GH1 - growth hormone 1 Gene

Also Known as GH; GHN; GH-N; GHB5; IGHD2; hGH-N; IGHD1A; IGHD1B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2688

About GH1

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:63,917,203-63,918,839 (from NCBI)

This gene has 6 transcripts (splice variants), 195 orthologues, 5 paralogues and is associated with 8 phenotypes. Restricted expression toward placenta (RPKM 13.6).

Summary

The protein encoded by this gene is a member of the somatotropin/Prolactin family of Hormones which play an important role in growth control. The gene, along with four Other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth Hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the Other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]

GH1 Products (3)

mRNA Protein Name
NM_000515.5 NP_000506.2 somatotropin isoform 1 precursor
NM_022559.4 NP_072053.1 somatotropin isoform 2 precursor
NM_022560.4 NP_072054.1 somatotropin isoform 3 precursor
Molecular Function GO Annotation Evidence References Source
enables cytokine activity IDA
IDA: Inferred from direct assay
7782332 GOA
enables growth factor activity IDA
IDA: Inferred from direct assay
1549776 GOA
enables growth factor activity IPI
IPI: Inferred from physical interaction
9360546 GOA
enables growth hormone activity IDA
IDA: Inferred from direct assay
1549776 GOA
enables growth hormone receptor binding IDA
IDA: Inferred from direct assay
6303755 GOA
enables growth hormone receptor binding IPI
IPI: Inferred from physical interaction
1549776 GOA
enables prolactin receptor binding IDA
IDA: Inferred from direct assay
10890569 GOA
enables prolactin receptor binding IPI
IPI: Inferred from physical interaction
7984244 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8943276 GOA
Biological Process GO Annotation Evidence References Source
involved in bone maturation IDA
IDA: Inferred from direct assay
20110402 GOA
involved in cell surface receptor signaling pathway via JAK-STAT IDA
IDA: Inferred from direct assay
8063815 GOA
involved in cell surface receptor signaling pathway via STAT IDA
IDA: Inferred from direct assay
12552091 GOA
involved in cytokine-mediated signaling pathway IDA
IDA: Inferred from direct assay
7782332 GOA
involved in growth hormone receptor signaling pathway IDA
IDA: Inferred from direct assay
1549776 GOA
involved in growth hormone receptor signaling pathway via JAK-STAT IDA
IDA: Inferred from direct assay
12552091 GOA
acts upstream of or within positive regulation of D-glucose transmembrane transport IDA
IDA: Inferred from direct assay
9144201 GOA
involved in positive regulation of insulin-like growth factor receptor signaling pathway IDA
IDA: Inferred from direct assay
7565946 GOA
involved in positive regulation of multicellular organism growth IDA
IDA: Inferred from direct assay
7565946 GOA
involved in positive regulation of multicellular organism growth IMP
IMP: Inferred from mutant phenotype
8496314 GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: Inferred from direct assay
7782332 GOA
NOT involved in positive regulation of receptor internalization IDA
IDA: Inferred from direct assay
9360546 GOA
involved in positive regulation of receptor signaling pathway via JAK-STAT IDA
IDA: Inferred from direct assay
8923468 GOA
involved in response to estradiol IDA
IDA: Inferred from direct assay
12552091 GOA
Cellular Component GO Annotation Evidence References Source
is active in extracellular space IDA
IDA: Inferred from direct assay
5810834 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
11549663 GOA
part of growth hormone receptor complex IDA
IDA: Inferred from direct assay
1549776 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

somatotropin

  • growth hormone B5

GH1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GH1 P01241 GHR Homo sapiens P10912 9353194
Intra
GH1 P01241 GHR Homo sapiens P10912 31279174
Intra
GH1 P01241 GHR Homo sapiens P10912 8943276
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GH1 Proteins

Cat. No. Product Name Accession Purity
HY-P7183 GH/Somatotropin Protein, Human P01241-1 (F27-F217) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P7360 GH/Somatotropin Protein, Human (CHO) CAA23779.1 (F27-F217) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P73085 GH/Somatotropin Protein, Human (His) P01241-1 (F27-F217) ≥ 85%, as determined by reducing SDS-PAGE.
HY-P700610 GH/Somatotropin Protein, Human (Biotinylated, HEK293, N-His, C-Avi) P01241-1 (F27-F217) ≥ 90%, as determined by reducing SDS-PAGE.

GH1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83522 Growth Hormone 1 Antibody (YA3267) WB, IHC-P, IP Human
HY-P83522A Growth Hormone 1 Antibody (YA3267)(PBS only) WB, IHC-P, IP Human
HY-P86060 Humanm Placental lactogen Antibody (YA5752) IHC-P, ICC/IF, ELISA Human

Related Diseases

Diseases Alias
Isolated Growth Hormone Deficiency, Type Ib
  • Isolated Growth Hormone Deficiency Type Ib

  • IGHD1B

  • Ighd Ib

  • Growth Hormone Deficiency, Isolated, Type Ib

  • Congenital Ighd Type Ib

  • Congenital Isolated Gh Deficiency Type Ib

  • Congenital Isolated Growth Hormone Deficiency Type Ib

  • Dwarfism Of Sindh

  • Pituitary Dwarfism I

  • Isolated Growth Hormone Deficiency Type 1b

  • Ighd 1b

  • Growth Hormone Deficiency, Isolated, 1b

Kowarski Syndrome
  • Biodefective Growth Hormone

  • Pituitary Dwarfism With Normal Immunoreactive Growth Hormone And Low Somatomedin

  • Short Stature Due To Growth Hormone Qualitative Anomaly

  • KWKS

Isolated Growth Hormone Deficiency, Type Ii
  • Ighd Ii

  • Isolated Growth Hormone Deficiency Type Ii

  • IGHD2

  • Growth Hormone Deficiency, Isolated, Type Ii

  • Congenital Ighd Type Ii

  • Congenital Isolated Gh Deficiency Type Ii

  • Congenital Isolated Growth Hormone Deficiency Type Ii

  • Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant

  • Growth Hormone Deficiency, Isolated, Autosomal Dominant

  • Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant

  • Autosomal Dominant Isolated Growth Hormone Deficiency

  • Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency

  • Isolated Growth Hormone Deficiency Type 2

  • Growth Hormone Deficiency, Isolated Autosomal Dominant

  • Growth Hormone Deficiency, Isolated, 2

  • Growth Hormone Deficiency Isolated Autosomal Dominant

Isolated Growth Hormone Deficiency, Type Ia
  • Ighd Ia

  • Primordial Dwarfism

  • Isolated Growth Hormone Deficiency Type Ia

  • Sexual Ateleiotic Dwarfism

  • Pituitary Dwarfism I

  • IGHD1A

  • Illig-Type Growth Hormone Deficiency

  • Growth Hormone Deficiency, Isolated, Type Ia

  • Congenital Ighd Type Ia

  • Congenital Isolated Gh Deficiency Type Ia

  • Congenital Isolated Growth Hormone Deficiency Type Ia

  • Pituitary Dwarfism 1

  • Growth Hormone Deficiency, Isolated, Autosomal Recessive

  • Autosomal Recessive Isolated Growth Hormone Deficiency

  • Isolated Growth Hormone Deficiency Type 1a

  • Congenital Ighd

  • Congenital Isolated Gh Deficiency

  • Congenital Isolated Growth Hormone Deficiency

  • Growth Hormone Deficiency, Isolated Autosomal Recessive

  • Illig Type Growth Hormone Deficiency

  • Non-Acquired Isolated Growth Hormone Deficiency

  • Growth Hormone Deficiency, Isolated, 1a

  • Growth Hormone Deficiency Isolated Autosomal Recessive

  • Dwarfism, Primordial

  • Dwarfism

Growth Hormone Deficiency
  • Somatotropin Deficiency

  • Isolated Somatotropin Deficiency

Acromegaly
  • Gigantism

  • Growth Hormone Excess

  • Pituitary Giant

  • Somatotroph Adenoma

  • Growth Hormone-Secreting Pituitary Adenoma

Empty Sella Syndrome
  • Empty Sella Turcica

  • Empty Sella

Pituitary Gland Disease
  • Pituitary Diseases

  • Pituitary Dysfunction

  • Pituitary Disease

  • Pituitary Deficiency

  • Pituitary Disorders

Laron Syndrome
  • Growth Hormone Insensitivity Syndrome

  • Growth Hormone Receptor Deficiency

  • Laron Dwarfism

  • Pituitary Dwarfism Ii

  • Laron-Type Isolated Somatotropin Defect

  • Primary Growth Hormone Resistance

  • Laron-Type Dwarfism

  • Laron Type Pituitary Dwarfism I

  • Primary Growth Hormone Insensitivity

  • Primary Gh Resistance

  • Gh-R Deficiency

  • Growth Hormone Receptor Defect

  • Laron-Type Pituitary Dwarfism

  • Laron-Type Short Stature

  • Severe Gh Insensitivity

  • Ghis

  • Short Stature Due To A Defect In Growth Hormone Receptor Or Post-Receptor Pathway

  • Complete Growth Hormone Insensitivity

  • Gh Receptor Deficiency

  • Primary Gh Insensitivity

  • Short Stature Due To Growth Hormone Resistance

  • LARS

Turner Syndrome
  • Monosomy X

  • Gonadal Dysgenesis Turner Type

  • Ullrich-Turner Syndrome

  • Bonnevie-Ullrich Syndrome

  • Karyotype 45, X

  • Genital Dwarfism, Turner Type

  • Gonadal Dysgenesis

  • 45,X

  • Turner'S Syndrome

  • Gonadal Dysgenesis - Turner

  • Monosomy X Syndrome

  • Xo Syndrome

  • Genital Dwarfism

  • 45, X Syndrome

  • Bonnevie-Ulrich Syndrome

  • Chromosome X Monosomy X

  • Schereshevkii Turner Syndrome

  • Turner Varny Syndrome

  • Ts

  • 45,X Syndrome

  • 45,X/46,Xx Syndrome

  • Turners Syndrome

  • Gonadal Dysgenesis, 45,X

  • X0 Syndrome

Hypopituitarism
  • Pituitary Hypofunction

  • Pituitary Insufficiency

  • Pituitary Hormone Deficiency

  • Subpituitarism

  • Hypophyseal Dystrophy

  • Hypohypophysism

  • Anterior Pituitary Insufficiency

  • Deficient Secretion Of One Or More Pituitary Hormones

  • Hypopituitarism Syndrome

  • Pituitary Deficiency

  • Pituitary Failure

  • Pituitary Insufficiency Nos

  • Anterior Pituitary Hypofunction

  • Deficient Secretion Of All Pituitary Hormones

  • Hypopituitary Dwarfism

  • Hyposomatotropic Dwarfism

  • Hypophyseal Dwarfism

  • Hypopituitary Cachexia

  • Hypophyseal Short Stature

  • Panhypopituitarism Syndrome

  • Pituitary Cachexia

  • Juvenile Hypopituitarism

  • Pituitary Dwarfism

  • Pituitary Gland Hypofunction

  • Primary Hypopituitarism

  • Secondary Hypogonadism

  • Prepubertal Panhypopituitarism

  • Prepubertal Dwarfism

  • Postpartum Panhypopituitary Syndrome

  • Postpartum Hypopituitarism

  • Pituitary Short Stature

  • Pituitary Infantilism

  • Pituitary Hypogonadism

  • Pituitary Hypoadrenocorticism

Hyperprolactinemia
  • Chiari-Frommel Syndrome

  • Hyperprolactinaemia

  • Familial Hyperprolactinemia

  • HPRL

  • Pregnancy-Related A-G Syndrome

  • Familial Isolated Prolactin Receptor Deficiency

Prolactinoma
  • Prolactin-Producing Pituitary Gland Adenoma

  • Prolactin-Secreting Pituitary Adenoma

  • Forbes-Albright Syndrome

  • Lactotroph Adenoma

  • Prl-Secreting Pituitary Adenoma

  • Prloma

  • Pituitary Lactotrophic Adenoma

  • Familial Prolactinoma

  • Pituitary Adenoma, Prolactin-Secreting

  • Prolactinoma Of Pituitary Gland

  • PSPA

Pituitary Tumors
  • Pituitary Tumor

  • Pituitary Neoplasms

Mccune-Albright Syndrome
  • Mass Syndrome

  • Polyostotic Fibrous Dysplasia

  • MAS

  • Fibrous Dysplasia Of Bone

  • Albright Syndrome

  • Mass Phenotype

  • Overlap Connective Tissue Disease

  • Mccune Albright Syndrome

  • Osteitis Fibrosa Disseminata

  • OCTD

  • Albright'S Disease

  • Pfd

  • Pofd

  • Albright'S Syndrome

  • Mccune-Albright Syndrome, Somatic, Mosaic

  • Albright'S Disease Of Bone

  • Albright'S Syndrome With Precocious Puberty

  • Albright-Mccune-Sternberg Syndrome

  • Albright-Sternberg Syndrome

  • Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty

  • Gonadotropin-Independent Female-Limited Sexual Precocity

  • Fibrous Dysplasia Polyostotic

  • Fibrous Dysplasia, Polyostotic

Chromophobe Adenoma
  • Adenoma, Chromophobe

  • Chromophobe Adenoma Of The Pituitary Gland

  • Adenoma Chromophobe

Fibrous Dysplasia
  • Fibrous Dysplasia Of Bone

Pituitary Hormone Deficiency, Combined, 2
  • Panhypopituitarism

  • Combined Pituitary Hormone Deficiency

  • CPHD2

  • Ateliotic Dwarfism With Hypogonadism

  • Pituitary Dwarfism Iii

  • Hanhart Dwarfism

  • Simmond'S Disease

  • Simmonds' Disease

  • Cphd

  • Pituitary Hormone Deficiency, Combined

  • Hormone Deficiency, Pituitary, Combined, Type 2

  • Pituitary Dwarfism Type 3

  • Sheehan Syndrome

Hypothalamic Disease
  • Hypothalamic Diseases

  • Hypothalamic Dysfunction

  • Hypothalamic Disorder

  • Hypothalamic Dysfunction Syndromes

Precocious Puberty
  • Familial Precocious Puberty

  • Idiopathic Sexual Precocity

  • Sexual Precocity

  • Puberty Precocious

  • Cryptogenic Sexual Precocity

Isolated Growth Hormone Deficiency
  • Congenital Ighd

  • Congenital Isolated Gh Deficiency

  • Congenital Isolated Growth Hormone Deficiency

  • Non-Acquired Isolated Growth Hormone Deficiency

  • Pituitary Dwarfism

  • Dwarfism, Pituitary

  • Isolated Somatotropin Deficiency

  • Isolated Congenital Growth Hormone Deficiency

  • Familial Isolated Growth Hormone Deficiency

  • Ighd

  • Dwarfism, Growth Hormone Deficiency

  • Growth Hormone Deficiency Dwarfism

  • Isolated Gh Deficiency

  • Isolated Hgh Deficiency

  • Isolated Human Growth Hormone Deficiency

  • Isolated Somatotropin Deficiency Disorder

  • Dwarfism Pituitary

Adenoma
  • Acinar Cell Adenoma

  • Adenomas

  • Acinic Cell Adenoma

Anorexia Nervosa
  • Anorexia Nervosa, Susceptibility To

  • ANON

  • Anorexia Nervosa, Susceptibility To, 1

  • An

  • Anorexia Nervosa 1

  • An - [Anorexia Nervosa]

Pituitary Adenoma
  • Adenoma Of The Pituitary Gland

  • Pituitary Adenomas

  • Adenoma, Pituitary

  • Pituitary Gland Adenoma

  • Pituitary Neoplasms

Insulin-Like Growth Factor I
  • Insulin-Like Growth Factor I Deficiency

  • IGF1 DEFICIENCY

  • Insulin-Like Growth Factor I, Resistance To

  • Growth Retardation With Deafness And Mental Retardation Due To Igf1 Deficiency

  • Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency

  • Growth Delay Due To Insulin-Like Growth Factor I Resistance

  • IGF1RES

  • Igf-I Resistance

  • Somatomedin, End-Organ Insensitivity To

  • Somatomedin-C

  • Somatomedin-C, Resistance To

  • Growth Retardation With Sensorineural Deafness And Mental Retardation

  • Insulin-Like Growth Factor 1 Resistance To

  • Igf-1 Resistance

  • Somatomedin End-Organ Insensitivity To

  • Somatomedin-C Resistance To

  • Growth Restriction With Sensorineural Deafness And Intellectual Disability

  • Growth Delay-Deafness-Intellectual Disability Syndrome

  • Growth Delay-Hearing Loss-Intellectual Disability Syndrome

  • Igf-1 Deficiency

  • Primary Insulin-Like Growth Factor Deficiency

  • Resistance To Igf-1

  • Insulin-Like Growth Factor 1 Resistance

  • End-Organ Insensitivity To Somatomedin

  • Igf1 Resistance

  • Resistance To Insulin-Like Growth Factor I

  • Resistance To Somatomedin-C

  • Insulin-Like Growth Factor 1, Resistance To

Pituitary Apoplexy
  • Pituitary Tumor Apoplexy

Hyperthyroidism
  • Overactive Thyroid

Conn'S Syndrome
  • Cushing Syndrome

  • Hyperaldosteronism

  • Primary Hyperaldosteronism

  • Hypercortisolism

  • Primary Aldosteronism

  • Cushing'S Syndrome

  • Adrenal Gland Hyperfunction

  • Conn Syndrome

  • Hyperadrenalism

  • Ectopic Acth Syndrome

  • Hyperadrenocorticism

  • Cushing Disease

  • Cushing'S Disease

  • Adrenal Cortex Adenoma

  • Corticotroph Pituitary Adenoma

  • Pituitary Corticotroph Micro-Adenoma

  • Pituitary-Dependent Cushing Syndrome

  • Pituitary Acth Hypersecretion

  • Acth Syndrome, Ectopic

  • Acth-Secreting Pituitary Adenoma

  • Adrenal Hyperfunction Resulting From Pituitary Acth Excess

  • Ectopic Adrenocorticotropic Hormone Syndrome

  • Nodular Primary Adrenocortical Dysplasia

  • Pituitary Dependent Cushing Syndrome

  • Pituitary Cushing Syndrome

  • Pituitary-Dependant Cushing Syndrome

  • Pituitary-Dependant Hypercortisolism

  • Pituitary-Dependant Hypercortisolism Disorder

  • Aldosteronism Primary

  • Acth Syndrome Ectopic

  • Adrenal Cushing'S Syndrome

  • Adrenal Cortical Adenoma

  • Cushing Syndrome Nos

  • Cortisol Hypersecretion

  • Corticoadrenal Hypersecretion

  • Cushing Syndrome Secondary To Ectopic Acth-Secretion

  • Ectopic Cushing Syndrome

  • Hypercortisolism Due To Nonpituitary Tumour

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

  • Idiopathic Aldosteronism

  • Aldosteronism

  • Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

  • Primary Aldosteronism Due To Adrenal Hyperplasia

Hypothyroidism, Congenital, Nongoitrous, 4
  • Tsh Deficiency

  • CHNG4

  • Thyrotropin Deficiency, Isolated

  • Pituitary Cretinism

  • Congenital Nongoitrous Hypothyroidism 4

  • Isolated Thyrotropin Deficiency

  • Thyroid-Stimulating Hormone Deficiency

  • Hypothyroidism, Congenital, Nongoitrous 4

  • Thyroid-Stimulating Hormone, Deficiency Of

  • Isolated Thyroid-Stimulating Hormone Deficiency

  • Isolated Tsh Deficiency

  • Hypothyroidism, Congenital, Nongoitrous, Type 4

  • Secondary Hypothyroidism

  • Tsh - [Thyroid Stimulating Hormone] Deficiency

Central Diabetes Insipidus
  • Neurogenic Diabetes Insipidus

  • Diabetes Insipidus Cranial Type

  • Diabetes Insipidus Neurogenic

  • Diabetes Insipidus Neurohypophyseal

  • Neurohypophyseal Diabetes Insipidus

  • Pituitary Diabetes Insipidus

  • Cdi

  • Doid:0081055

  • Diabetes Insipidus

  • Di - [Diabetes Insipidus]

  • Adh - [Antidiuretic Hormone Secretion] Deficiency

  • Diabetes Mellitus Insipidus

  • Familial Diabetes Insipidus

  • Antidiuretic Hormone Hyposecretion

  • Vasopressin Deficiency Syndrome

  • Primary Central Diabetes Insipidus

  • Vasopressin Deficiency

  • Vasopressin Hyposecretion

  • Diabetes Insipidus Secondary To Vasopressin Deficiency

Marasmus
  • Nutritional Marasmus

  • Nutritional Atrophy

Short Bowel Syndrome
  • Short Gut Syndrome

  • Acquired Short Bowel Syndrome

  • Secondary Short Bowel Syndrome

  • Short Bowel Nos

Protein-Deficiency Anemia
  • Anemia Due To Protein Deficiency

  • Protein-Deficiency Anaemia

  • Amino-Acid Deficiency Anaemia

  • Anaemia Due To Amino-Acid Disorder

Polycystic Ovary Syndrome
  • Polycystic Ovarian Syndrome

  • Pcos

  • Polycystic Ovarian Disease

  • Polycystic Ovaries

  • Stein-Leventhal Syndrome

  • Multicystic Ovaries

  • Polycystic Ovary

  • Sclerocystic Ovaries

  • Sclerocystic Ovary Syndrome

  • Stein-Leventhal Synd.

  • Cystic Disease Of Ovaries

  • Cystic Disease Of Ovary

  • Pco

  • Pcod

  • Sclerocystic Ovarian Degeneration

  • Polycystic Ovary Syndrome, Susceptibility To

  • Pcos - [Polycystic Ovary Syndrome]

  • Polycystic Ovary Nos

  • Pco - [Polycystic Ovary]

Prader-Willi Syndrome
  • Prader-Labhart-Willi Syndrome

  • PWS

  • Willi-Prader Syndrome

  • Prader-Willi Syndrome Due To Translocation

  • Prader-Willi Syndrome Due To Imprinting Mutation

  • Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

  • Prader Willi Syndrome

  • Upd(15)Mat

Hyperinsulinism
  • Hyperinsulinemia

Hypoglycemia
  • Hypoglycaemia

  • Low Blood Sugar

  • Hypoglycaemia Nos

  • Spontaneous Hypoglycaemia

  • Nondiabetic Hypoglycaemia

  • Hypoglycaemic Disorder Nos

  • Hypoglycaemic Syndrome

Glucose Intolerance
  • Glucose: Intolerance

  • Glucose: Malabsorption

  • Malabsorption Of Glucose

  • Impaired Glucose Tolerance

Premature Ovarian Failure 7
  • Adrenocortical Insufficiency

  • POF7

  • Adrenal Insufficiency, Nr5a1-Related

  • AINR

  • Ovarian Failure, Premature, Type 7

  • Hypoaldosteronism

  • Adrenal Cortical Hypofunction

  • Adrenal Failure Nos

  • Hypoadrenocorticism

  • Adrenocortical Hypofunction

  • Adrenal Cortex Hypofunction

  • Adrenal Cortex Deficiency

  • Adrenal Gland Insufficiency

  • Adrenal Hypofunction

  • Adrenal Insufficiency

  • Suprarenal Insufficiency

  • Corticoadrenal Insufficiency Nos

  • Corticoadrenal Hypofunction

  • Corticoadrenal Deficiency

  • Hypoadrenia

  • Hypoadrenalism

  • Aldosterone Deficiency

Uremia
  • Uremia Of Renal Origin

Septooptic Dysplasia
  • Septo-Optic Dysplasia

  • De Morsier Syndrome

  • Growth Hormone Deficiency With Pituitary Anomalies

  • SOD

  • Pituitary Hormone Deficiency, Combined, 5

  • Septo-Optic Dysplasia Spectrum

  • Septo-Optic Dysplasia With Growth Hormone Deficiency

  • Pituitary Hormone Deficiency, Combined 5

  • Hypopituitarism And Septooptic 'Dysplasia'

  • GHDPA

  • CPHD5

  • Dysplasia, Septo-Optic

  • Kallmann Syndrome

Hyperandrogenism
  • Hyperandrogenization Syndrome

Hypogonadism
Acanthosis Nigricans
  • Keratosis Nigricans

  • An

Hypothyroidism
  • Thyroid Diseases

  • Thyroid Disease

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Dysfunction

Syringomyelia
  • Hydromyelia

Vipoma
  • Wdha Syndrome

  • Pancreatic Cholera

  • Pancreatic Vipoma

  • Verner-Morrison Syndrome

  • Diarrheogenic Islet Cell Tumor

  • Vip-Secreting Tumor

  • Malignant Vasoactive Intestinal Peptide-Secreting Tumor

  • Vasoactive Intestinal Peptide-Secreting Tumor

  • Vip- Secreting Tumor

  • Vipoma, Malignant

  • Vipoma Syndrome

  • Watery Diarrhea Syndrome

  • Watery Diarrhea, Hypokalemia, And Achlorhydria Syndrome

  • Vasoactive Intestinal Peptide Tumor

  • Vasoactive Intestinal Peptide-Producing Tumor

  • Watery Diarrhea-Hypokalemia-Achlorhydria Syndrome

  • Malignant Vipoma

Chronic Fatigue Syndrome
  • Myalgic Encephalomyelitis

  • Postviral Fatigue Syndrome

  • Cfs

  • Myalgic Encephalitis

  • Encephalomyelitis, Myalgic

  • Chronic Fatigue

  • Fatigue Syndrome, Chronic

  • Benign Myalgic Encephalomyelitis

  • Akureyri

  • Akureyri Disease

  • Cfs - [Chronic Fatigue Syndrome]

  • Epidemic Neuromyasthenia

  • Myalgic Encephalomyelitis Syndrome

  • Me - [Myalgic Encephalomyelitis]

  • Pvfs - [Postviral Fatigue Syndrome]

  • Neuromyasthenia

  • Iceland Disease

  • Icelandic Disease

Hyperpituitarism
Diabetes Insipidus
Insulinoma
  • Islet Cell Adenoma

  • Insulin-Producing Tumor Of Islet Cells

  • Adenoma Islet Cell

  • Islet Cell Tumor

  • Experimental Organism Islet Cell Adenoma Neoplasm

Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent

  • Diabetes Mellitus Type 1

  • IDDM

  • Type 1 Diabetes

  • Insulin-Dependent Diabetes Mellitus

  • T1D

  • Juvenile-Onset Diabetes

  • Jod

  • Diabetes Mellitus, Type 1

  • Diabetes Mellitus, Insulin-Dependent-1

  • Type I Diabetes Mellitus

  • Autoimmune Diabetes

  • Juvenile Diabetes

  • Juvenile-Onset Diabetes Mellitus

  • Diabetes, Insulin Dependent

  • Insulin-Dependent Diabetes Mellitus-1

  • Diabetes Mellitus Insulin-Dependent

  • Diabetes Autoimmune

  • Diabetes Mellitus, Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 1, Susceptibility To

  • Diabetes Type 1

  • Type I Diabetes

  • Diabetes, Autoimmune

  • T1dm - [Type 1 Diabetes Mellitus]

  • Iddm - [Insulin Dependent Diabetes Mellitus]

  • Type 1 Iddm

  • Juvenile Diabetes Mellitus Without Compications

  • Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

  • Juvenile-Onset Diabetes Mellitus Without Compications

  • Ketosis-Prone Diabetes Mellitus Without Compications

  • Juvenile-Onset-Type Diabetes Mellitus Without Compications

Diencephalic Astrocytoma
  • Astrocytoma Of Diencephalon

Hyperglycemia
Pituitary Adenoma 1, Multiple Types
  • Pituitary Adenoma Predisposition

  • PITA1

  • Isolated Familial Somatotropinoma

  • Fis

  • Ifs

  • Somatotrophinoma, Familial

  • Acromegaly Due To Pituitary Adenoma 1

  • Pagh1

  • Pituitary Adenoma 1

  • Somatotropinoma, Familial Isolated

  • Somatotropic Adenoma

  • Somatotropinoma

  • Pituitary Gigantism

  • Hypophyseal Gigantism

  • Infantile And Juvenile Forms Of Acromegaly

  • Acromegaly Due To Pituitary Adenoma

  • Familial Isolated Pituitary Adenoma

  • Familial Isolated Somatotropinomas

  • Familial Somatotrophinoma

  • Fipa

  • Pituitary Adenoma, Growth Hormone-Secreting, 1

  • Gigantism Pituitary

  • Pituitary Adenoma, Type 1, Multiple Types

  • Gigantism

  • Pituitary Adenoma, Familial Isolated

  • Multiple Gastrointestinal Atresias

Pituitary-Dependent Cushing'S Disease
  • Pituitary-Dependent Cushing Disease

  • Pituitary Acth Hypersecretion

  • Overproduction Of Acth

  • Pituitary-Dependent Cushings Disease

  • Overproduction Of Pituitary Acth

  • Pituitary-Dependent Hyperadrenocorticism

  • Corticotroph Pituitary Adenoma

  • Acth- [Adrenocorticotropic Hormone] Secreting Pituitary Adenoma

  • Cushing Syndrome Or Disease, Pituitary-Dependent

  • Cushings Basophilism

  • Cushing'S Syndrome 3

  • Itsenko-Cushing Syndrome

  • Itsenko Disease

  • Pituitary Basophilism

  • Pituitary-Dependent Hypercorticalism

  • Suprarenogenic Syndrome

  • Cushing Disease

  • Cushing'S Disease

Craniopharyngioma
  • Neoplasm Of Rathke'S Pouch

  • Adamantinomatous Tumor

  • Craniopharyngeal Duct Tumor

  • Dysodontogenic Epithelial Tumor

  • Rathke'S Pouch Tumor

Prediabetes Syndrome
  • Prediabetes

  • Impaired Glucose Tolerance

  • Prediabetic State

  • IGT

  • Igt - [Impaired Glucose Tolerance]

  • Impaired Glucose Tolerance With Unspecified Complication

  • Impaired Glucose Tolerance Without Complication

  • Abnormal Glucose Tolerance

Adermatoglyphia
  • ADERM

  • Immigration Delay Disease

  • Absence Of Fingerprints

  • Adg

  • Congenital Absence Of Fingerprints

  • Isolated Congenital Adermatoglyphia

  • Fingerprints, Absence Of

  • Skin Abnormalities

Cystinosis
  • Cystine Storage Disease

  • Cystine Diathesis

  • Cystine Disease

  • Cystinoses

  • Protein Defect Of Cystin Transport

  • Cystin Transport, Protein Defect Of

  • Nephropathic Cystinosis

  • Protein Defect Of Cystine Transport

Primary Hyperparathyroidism
  • Familial Primary Hyperparathyroidism

  • Hyperparathyroidism, Primary

  • Hyperparathyroidism Primary

  • Hypocalciuric Hypercalcemia, Familial, Type 1

  • Familial Benign Hypercalcemia

  • Familial Hyperparathyroidism

  • Parathyroid Enlargement

Congenital Hypothyroidism
  • Cretinism

  • Neonatal Hypothyroidism

  • Ch

  • Cht

  • Congenital Myxedema

  • Myxedema, Congenital

  • Endemic Cretinism

  • Congenital Iodine-Deficiency Syndrome

  • Fetal Iodine Deficiency Syndrome

  • Congenital Iodine-Deficiency Hypothyroidism Nos

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Osteoporosis
  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis

Nickel Allergic Contact Dermatitis
  • Allergic Contact Dermatitis To Ni

Sheehan Syndrome
  • Postpartum Hypopituitarism

  • Sheehan'S Syndrome

  • Postpartum Panhypopituitarism

  • Postpartum Panhypopituitary Syndrome

  • Postpartum Pituitary Necrosis

  • Simmond'S Disease

Diabetes Mellitus
  • Diabetes

Nutritional Deficiency Disease
  • Malnutrition

  • Nutritional Disorder

  • Nutritional Deficiency

  • Nutrition

  • Deficiency Diseases

  • Carbamoyl-Phosphate Synthase I Deficiency Disease

  • Nutrition Disorders

Proprotein Convertase 1/3 Deficiency
  • Obesity Due To Prohormone Convertase I Deficiency

  • Obesity With Impaired Prohormone Processing

  • Obesity And Endocrinopathy Due To Impaired Processing Of Prohormones

  • Pci Deficiency

  • Proprotein Convertase 1 3 Deficiency

  • Endocrinopathy Due To Proprotein Convertase 1/3 Deficiency

  • Proprotein Convertase 1 Deficiency

  • PC1 DEFICIENCY

Scoliosis
Functioning Pituitary Adenoma
  • Secretory Adenoma Of The Pituitary Gland

  • Endocrine Active Pituitary Adenoma

  • Secreting Pituitary Adenoma

  • Pituitary Adenoma, Functioning

Van Maldergem Syndrome 1
  • Cerebrofacioarticular Syndrome

  • VMLDS1

  • Van Maldergem Syndrome

  • Cerebro-Facio-Articular Syndrome

  • Van Maldergem Wetzburger Verloes Syndrome

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Motor Neuron Disease
  • Anterior Horn Cell Disease

  • Motor Neuron Diseases

  • Mnd - [Motor Neurone Disease]

  • Lou Gehrig Disease

  • Creeping Palsy

  • Creeping Paralysis

  • Bulbar Motor Neuron Disease

  • Bulbar Syndrome

  • Anterior Horn Cell Disorder

  • Hereditary Motor Neuron Disease

Growth Hormone Secreting Pituitary Adenoma
  • Somatotroph Adenoma

  • Growth Hormone-Secreting Pituitary Adenoma

  • Growth Hormone Producing Adenoma Of The Pituitary

  • Growth Hormone Secreting Adenoma Of Pituitary

Partial Third-Nerve Palsy
  • Partial Third Nerve Palsy

  • Third Nerve Palsy With Pupil Sparing

  • Third Or Oculomotor Nerve Palsy, Partial

  • Oculomotor Nerve Diseases

  • Oculomotor Nerve Paralysis

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
  • 17-Ksr Deficiency

  • Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency

  • Pseudohermaphroditism, Male, With Gynecomastia

  • 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency

  • Testosterone 17-Beta-Dehydrogenase Deficiency

  • 17-Ketosteroid Reductase Deficiency Of Testis

  • 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

  • 17-Ketoreductase Deficiency

  • 17-Ketosteroidreductase Deficiency

  • 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

  • Male Pseudohermaphroditism With Gynecomastia

  • 17 Alpha Ksr Deficiency

  • 17 Alpha Ketosteroid Reductase Deficiency Of Testis

  • 17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency

  • Male Pseudoherma-Phroditism With Gynecomastia

  • Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency

  • Male Pseudohermaphrodism With Gynecomastia

  • MPH

  • 17-Hydroxysteroid Dehydrogenase Deficiency

Disorder Of Sexual Development
  • Disorder Of Sex Development

  • Disorders Of Sex Development

  • Sex Development Disorder

  • Sex Differentiation Disease

  • Dsd

  • Sex Differentiation Disorders

Deficiency Anemia
  • Anemia

  • Deficiency Anemias

  • Anaemia

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

Noonan Syndrome 1
  • Noonan Syndrome

  • NS1

  • Male Turner Syndrome

  • Female Pseudo-Turner Syndrome

  • Turner Phenotype With Normal Karyotype

  • Noonan Syndrome With Pigmented Villonodular Synovitis

  • Turner'S Phenotype, Karyotype Normal

  • Familial Turner Syndrome

  • Noonan'S Syndrome

  • Noonan-Ehmke Syndrome

  • Ns

  • Pseudo-Ullrich-Turner Syndrome

  • Turner Syndrome In Female With X Chromosome

  • Turner-Like Syndrome

  • Ullrich-Noonan Syndrome

  • Noonan-Like/Multiple Giant Cell Lesion Syndrome

  • Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

  • Pterygium Colli Syndrome

  • Noonan Syndrome, Type 1

  • Turner Syndrome, Male

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus GH1 RGD RGD:2686
Mus musculus GH1 MGD MGI:95707