PTHLH - parathyroid hormone like hormone Gene

Also Known as HHM; PLP; BDE2; PTHR; PTHRP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5744

About PTHLH

Cytogenetic location: 12p11.22 Genomic coordinates (GRCh38): 12:27,958,084-27,972,733 (from NCBI)

This gene has 9 transcripts (splice variants), 269 orthologues and is associated with 4 phenotypes. Broad expression in esophagus (RPKM 1.7), endometrium (RPKM 1.5) and 19 other tissues.

Summary

The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013]

PTHLH Products (4)

mRNA Protein Name
NM_002820.3 NP_002811.1 parathyroid hormone-related protein isoform 2 preproprotein
NM_198964.2 NP_945315.1 parathyroid hormone-related protein isoform 2 preproprotein
NM_198965.2 NP_945316.1 parathyroid hormone-related protein isoform 1 preproprotein
NM_198966.2 NP_945317.1 parathyroid hormone-related protein isoform 1 preproprotein
Molecular Function GO Annotation Evidence References Source
enables peptide hormone receptor binding IDA
IDA: Inferred from direct assay
19674967 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19674967 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

PTHLH Protein Structure

Parathyroid

Parathyroid: Parathyroid hormone family (35 - 130)

  • 0
  • 100
  • 177 a.a.
Protein Preferred Names Protein Names

parathyroid hormone-related protein

  • PTH-rP

Related Diseases

Diseases Alias
Brachydactyly, Type E2
  • Brachydactyly Type E2

  • BDE2

  • Brachydactyly E2

Brachydactyly, Type E1
  • Brachydactyly Type E1

  • Brachydactyly Type E

  • BDE1

  • Brachydactyly, Type E

  • Bde

  • Type E Brachydactyly

  • Brachydactyly E1

  • Brachydactyly Syndrome Type E

Brachydactyly
Dysgerminoma
Primary Hyperparathyroidism
  • Familial Primary Hyperparathyroidism

  • Hyperparathyroidism, Primary

  • Hyperparathyroidism Primary

  • Hypocalciuric Hypercalcemia, Familial, Type 1

  • Familial Benign Hypercalcemia

  • Familial Hyperparathyroidism

  • Parathyroid Enlargement

Pseudohypoparathyroidism
  • Familial Pseudohypoparathyroidism

  • Parathyroid Hormone Resistant Hypoparathyroidism

  • Php - [Pseudohypoparathyroidism]

  • Constitutional Chronic Hypocalcaemia

Parathyroid Adenoma
  • Adenoma Of Parathyroid

  • Adenoma Of The Parathyroid Gland

  • Parathyroid Gland Adenoma

Leydig Cell Tumor
  • Leydig Cell Neoplasm

  • Tumor, Leydig Cell

  • Leydig Cell Tumor, Benign

Hypercalcemia, Infantile, 1
  • HCINF1

  • Infantile Hypercalcemia

  • Hypercalcemia

  • Hypercalcemia, Idiopathic, Of Infancy

  • Hypercalcemia Infantile

  • Idiopathic Hypercalcemia Of Infancy

  • Hypercalcemia, Infantile

  • Hypercalcemia, Infantile, Type 1

Enchondromatosis, Multiple, Ollier Type
  • Ollier Disease

  • Enchondromatosis

  • Dyschondroplasia

  • Osteochondromatosis

  • Multiple Cartilaginous Enchondroses

  • Multiple Enchondromatosis

  • Enchondromatosis With Haemangiomata

  • Enchondromatosis, Multiple

  • Kast'S Syndrome

  • Ollier'S Syndrome

  • Enchondromatosis Multiple

  • ENCHOM

  • Maffucci Disease

  • Olliers Disease

  • Hereditary Multiple Exostoses

  • Chondromatosis

Hyperparathyroidism
  • Hyperparathyroidism And Other Disorders Of Parathyroid Gland

  • Parathyroid Hyperfunction

  • Hpth - [Hyperparathyroidism]

  • Parathyroid Gland Hyperfunction

  • Parathyroid Glandular Hyperfunction

Hypoparathyroidism
  • Hypoparathyroidism, Idiopathic

  • Parathyroid, Underactivity Of

  • Syndrome With Hypoparathyroidism

  • Deficiency Of Parathyroid Hormone

  • Parathyroid Gland Insufficiency

  • Parathyroid Insufficiency

  • Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Adult T-Cell Leukemia/Lymphoma
  • Adult T-Cell Leukemia

  • Atll

  • Adult T-Cell Leukaemia

  • Adult T-Cell Leukaemia/Lymphoma

  • Adult T-Cell Lymphoma

  • T Cell Leukemia Lymphoma Adult

  • Leukemia-Lymphoma, Adult T-Cell

  • Leukemia, T-Cell

  • Adult T-Cell Lymphoma/Leukemia

Osteochondroma
  • Cartilaginous Exostosis

Malignant Ovarian Brenner Tumor
  • Malignant Brenner Tumor

Large Cell Carcinoma
  • Carcinoma, Large Cell

  • Carcinoma Large Cell

Pancreatic Endocrine Carcinoma
  • Carcinoma Of Endocrine Pancreas

  • Islet Cell Carcinoma

  • Malignant Neoplasm Of Islets Of Langerhans

  • Pancreatic Neuroendocrine Carcinoma

  • Carcinoma Islet Cell

  • Carcinoma, Islet Cell

Sclerosing Hepatic Carcinoma
  • Sclerosing Hepatocellular Carcinoma

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Metaphyseal Chondrodysplasia, Jansen Type
  • Metaphyseal Chondrodysplasia, Murk Jansen Type

  • Jansen'S Metaphyseal Chondrodysplasia

  • MCDJ

  • Murk Jansen Type Metaphyseal Chondrodysplasia

  • Jansen Type Metaphyseal Chondrodysplasia

  • Jansen Disease

  • Jansen Metaphyseal Chondrodysplasia

  • Jansen Metaphyseal Dysostosis

  • Metaphyseal Chondrodysplasia Murk Jansen Type

  • Chondrodysplasia, Metaphyseal, Murk Jansen Type

Pseudohypoparathyroidism, Type Ib
  • Pseudohypoparathyroidism Type 1b

  • PHP1B

  • Pseudohypoparathyroidism Ib

  • Pseudohypoparathyroidism Type Ib

  • Php Ib

  • Pseudohypoparathyroidism 1b

Osteomalacia
  • Adult Rickets

Parathyroid Gland Disease
  • Parathyroid Diseases

  • Disease Of Parathyroid Glands

  • Parathyroid Disease

Mineral Metabolism Disease
  • Mineral Metabolism Disorder

  • Disorder Of Mineral Metabolism

Bone Disease
  • Bone Diseases

  • Skeletal Disease

  • Skeletal Disorder

  • Disorder Of Skeletal System

Paraneoplastic Syndromes
Eiken Syndrome
  • Eiken Skeletal Dysplasia

  • Bone Modeling Defect Of Hands And Feet

  • EKNS

Chondrosarcoma
  • Cartilaginous Cancer

  • Chondrosarcoma Of Bone

  • Primary Chondrosarcoma Of The Bone

  • CHDSA

Hematologic Cancer
  • Hematologic Neoplasm

  • Hematologic Neoplasms

  • Hematologic Malignancies

  • Blood Cancer

  • Hematologic Malignancy

  • Hematological Tumors

  • Hematopoietic And Lymphoid System Tumor

  • Hematopoietic Cancer

  • Hematopoietic Neoplasm

  • Hematopoietic Tumors

  • Malignant Hematopoietic Neoplasm

  • Liquid Tumor

  • Hematopoietic Neoplasms

Hyperprolactinemia
  • Chiari-Frommel Syndrome

  • Hyperprolactinaemia

  • Familial Hyperprolactinemia

  • HPRL

  • Pregnancy-Related A-G Syndrome

  • Familial Isolated Prolactin Receptor Deficiency

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

Childhood Ovarian Dysgerminoma
  • Pediatric Ovarian Dysgerminoma

Childhood Ovarian Germ Cell Tumor
  • Pediatric Ovarian Germ Cell Tumor

  • Paediatric Ovarian Germ Cell Neoplasm

  • Paediatric Ovarian Germ Cell Tumour

  • Pediatric Ovarian Germ Cell Neoplasm

Fibrous Dysplasia
  • Fibrous Dysplasia Of Bone

Hypophosphatemia
  • Vitamin D-Resistant Rickets

  • Hereditary Hypophosphatemic Rickets

  • Vdrr

  • Vitamin D Resistant Rickets

  • Hypophosphatemic Rickets, X-Linked Dominant

  • Familial Hypophosphatemic Rickets

Hypertension And Brachydactyly Syndrome
  • Brachydactyly With Hypertension

  • Bilginturan Syndrome

  • HTNB

  • Brachydactyly-Arterial Hypertension Syndrome

  • Brachydactyly, Type E, With Short Stature And Hypertension

  • Bilginturan Brachydactyly

  • Brachydactyly Type E With Short Stature And Hypertension

  • Type E Brachydactyly With Short Stature And Hypertension

  • Brachydactyly Type E, With Short Stature And Hypertension

  • Hypertension With Brachydactyly

Squamous Cell Carcinoma
  • Epidermoid Carcinoma

  • Squamous Cell Cancer

  • Carcinoma, Squamous Cell

  • Squamous Cell Skin Cancer

  • Malignant Squamous Cell Tumor

  • Squamous Carcinoma

  • Squamous Cell Epithelioma

  • Carcinoma Squamous Cell

  • Neoplasms, Squamous Cell

  • Squamous Cell Carcinoma - Category

  • Malignant Squamous Cell Neoplasm

  • Squamous Cell Carcinoma Of Skin

Adenosquamous Carcinoma
  • Adenosquamous Cell Carcinoma

  • Mixed Adenocarcinoma And Squamous Carcinoma

  • Carcinoma Adenosquamous

  • Carcinoma, Adenosquamous

Failure Of Tooth Eruption, Primary
  • Primary Failure Of Tooth Eruption

  • PFE

  • Primary Retention Of Teeth

  • Unerupted Second Primary Molar

  • Dental Noneruption

  • Familial Posterior Openbite Malocclusion

  • Primary Failure Of Tooth Eruption, Nonsyndromic

  • Posterior Openbite Malocclusion, Familial

  • Nonsyndromic Primary Failure Of Eruption

  • Dental Non-Eruption

  • Non-Syndromic Primary Failure Of Eruption

  • Tooth Eruption, Failure, Primary

Ovarian Small Cell Carcinoma
  • Small Cell Carcinoma Of The Ovary

  • Scco

  • Small Cell Ovarian Carcinoma

Dysgerminoma Of Ovary
  • Ovarian Dysgerminoma

  • Malignant Dysgerminomatous Germ Cell Tumour Of Ovary

  • Dysgerminoma, Unspecified Site, Female

Hypocalcemia, Autosomal Dominant 1
  • Autosomal Dominant Hypocalcemia

  • Autosomal Dominant Hypocalcemia 1

  • HYPOC1

  • Hypocalcemia, Autosomal Dominant

  • Hypercalciuric Hypocalcemia

  • Hypocalcemia, Autosomal Dominant, With Bartter Syndrome

  • Familial Hypocalcemia

  • Hypocalcemia, Familial

  • Hypoc

  • Adh

  • Autosomal Dominant Hypoparathyroidism

  • Familial Hypercalciuric Hypocalcemia

  • Ad Hypocalcemia

  • Autosomal Dominant Hypocalcemia With Bartter Syndrome

  • Hypoparathyroidism - Autosomal Dominant

  • Hypocalcemia

Islet Cell Tumor
  • Pancreatic Neuroendocrine Tumor

  • Neuroendocrine Tumor Of Pancreas

  • Pnet

  • Pancreatic Net

  • Pancreatic Endocrine Tumor

  • Well-Differentiated Nen Of Pancreas

  • Well-Differentiated Neuroendocrine Neoplasm Of Pancreas

  • Well-Differentiated Pancreatic Nen

  • Well-Differentiated Pancreatic Neuroendocrine Neoplasm

  • Endocrine Pancreas Cancer

  • Islet Cell Neoplasm

  • Islet Cell Tumour

  • Malignant Pancreatic Endocrine Tumor

  • Malignant Pancreatic Endocrine Tumour

  • Malignant Tumor Of Endocrine Pancreas

  • Malignant Tumour Of Endocrine Pancreas

  • Pancreatic Endocrine Neoplasm

  • Pancreatic Neuroendocrine Neoplasm

  • Adenoma, Islet Cell

  • Well Differentiated Pancreatic Endocrine Tumor

  • Malignant Neoplasm Of Endocrine Pancreas

  • Pancreatic Endocrine Carcinoma

Clear Cell Adenocarcinoma
  • Mesonephroma

  • Water-Clear Cell Adenocarcinoma

  • Adenocarcinoma, Clear Cell

  • Malignant Mesonephroma

  • Mesonephroid Clear Cell Carcinoma

  • Mesonephroma, Malignant

  • Water-Clear Cell Carcinoma

  • Wolffian Duct Neoplasm

  • Adenocarcinoma Clear Cell

  • Mesonephric Tumor

Chondroblastoma
  • Chondroblastoma Of Bone

Hypervitaminosis D
  • Vitamin D Hyperalimentation

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Neutrophilia, Hereditary
  • Hereditary Neutrophilia

  • NEUTROPHILIA

  • Leukocytosis

  • Disorders With Increased Neutrophil Counts

Familial Hypocalciuric Hypercalcemia
  • Familial Benign Hypercalcemia

  • Fbh

  • Fbhh

  • Fhh

  • Familial Benign Hypocalciuric Hypercalcemia

  • Hypocalciuric Hypercalcemia, Familial, Type 1

Pseudohypoparathyroidism, Type Ia
  • Albright'S Hereditary Osteodystrophy

  • Albright Hereditary Osteodystrophy

  • Pseudohypoparathyroidism Type 1a

  • PHP1A

  • Albright Hereditary Osteodystrophy With Multiple Hormone Resistance

  • Pseudohypoparathyroidism Ia

  • AHO

  • Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy

  • Pseudo-Pseudohypoparathyroidism

  • Pseudohypoparathyroidism Type I A

  • Php Ia

  • Pseudopseudohypoparathyroidism

  • Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

  • Pphp

  • Pseudopseudo-Hypoparathyroidism

  • Aho-Php Syndrome Ia

  • Albright Hereditary Osteodystrophy-Php Syndrome Ia

  • Pseudohypoparathyroidism 1a

  • Pseudohypoparathyroidism

Metachondromatosis
  • METCDS

  • MC

Neuroendocrine Tumor
  • Neuroendocrine Neoplasm

  • Neuroendocrine Tumors

  • Carcinoma, Neuroendocrine

Granulomatous Myositis
Invasive Malignant Thymoma
  • Infiltrating Thymoma

  • Thymoma Malignant Invasive

  • Invasive Thymoma And Thymic Carcinoma

Her2-Receptor Negative Breast Cancer
Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Pseudopseudohypoparathyroidism
  • PPHP

  • Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

  • Normocalcemic Pseudohypoparathyroidism

  • Aho-Pphp Syndrome

  • Albright Hereditary Osteodystrophy-Pphp Syndrome

  • Pseudohypoparathyroidism

Acrodysostosis
  • Acrodysplasia

  • Arkless-Graham Syndrome

  • Maroteaux-Malamut Syndrome

  • Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome

  • Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome

Clear Cell Chondrosarcoma
  • Chondrosarcoma, Clear Cell

Multiple Enchondromatosis, Maffucci Type
  • Maffucci Syndrome

  • Chondrodysplasia With Hemangioma

  • Chondroplasia Angiomatosis

  • Enchondromatosis With Hemangiomata

  • Hemangiomatosis Chondrodystrophica

  • Kast Syndrome

  • Multiple Angiomas And Endochondromas

  • Dyschondrodysplasia With Hemangiomas

  • Enchondromatosis Type Ii

  • Enchondromatosis With Multiple Cavernous Hemangiomas

  • Dyschondroplasia And Cavernous Hemangioma

  • Hemangiomata With Dyschondroplasia

Tooth Ankylosis
  • Ankylosis Of Teeth

  • Ankylosis Of Tooth

Metaphyseal Dysplasia
  • Bakwin-Krida Syndrome

  • Pyle'S Disease

  • Pyle-Cohn Syndrome

Osteogenic Sarcoma
  • Osteosarcoma

  • OSRC

  • Osteosarcoma, Somatic

  • Neoplasms, Bone Tissue

  • Bone Tissue Neoplasm

  • Osteoid Sarcoma

  • Skeletal Sarcoma

  • Osteosarcoma Of Bone

  • Bone Sarcoma

Chondrodysplasia, Blomstrand Type
  • Chondrodysplasia Blomstrand Type

  • BOCD

  • Blomstrand Lethal Chondrodysplasia

  • Blomstrand Lethal Osteochondrodysplasia

  • Blomstrand'S Lethal Chondrodysplasia

  • Blc

  • Blomstrand Chondrodysplasia

  • Blomstrand Osteochondrodysplasia

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

Phosphorus Metabolism Disease
  • Phosphorus Metabolism Disorders

  • Disorder Of Phosphorus Metabolism

  • Phosphorus Disorder

  • Phosphorus Metabolism Disorder

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

T-Cell Acute Lymphoblastic Leukemia
  • T-Cell Leukemia

  • Acute T Cell Leukemia

  • Precursor T Lymphoblastic Leukemia

  • Precursor T-Lymphoblastic Lymphoma/Leukemia

  • T Acute Lymphoblastic Leukemia

  • T-Cell Acute Lymphocytic Leukaemia

  • T-Cell Lymphoblastic Leukemia/Lymphoma

  • Leukemia T-Cell

  • Leukemia, T-Cell

  • Leukemia, Acute, Lymphoblastic, T-Cell

  • Leukemia, T-Cell Acute Lymphoblastic

  • Leukemia, Acute T-Cell

  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

  • Precursor T-Cell Lymphoblastic Lymphoma

  • Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Syndactyly, Type V
  • Syndactyly Type 5

  • SDTY5

  • Syndactyly With Metacarpal And Metatarsal Fusion

  • Syndactyly With Associated Metacarpal And Metatarsal Fusion

  • Postaxial Syndactyly With Metacarpal Synostosis

  • Sd5

  • Syndactyly 5

  • Syndactyly Type V

Exostosis
  • Osteophyte

  • Exostoses

  • Orbital Exostosis

  • Exostosis Of Orbit

  • Bone Spur

  • Bony Outgrowth

  • Swimmer'S Exostosis

  • Osteophytes

  • External Exotoses

  • Cartilaginous Exostosis

Sarcoid Meningitis
  • Meningitis In Sarcoidosis

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Osseous Heteroplasia, Progressive
  • Progressive Osseous Heteroplasia

  • POH

  • Osteoma Cutis

  • Familial Ectopic Ossification

  • Ectopic Ossification Familial Type

  • Ectopic Ossification

  • Heterotopic Ossification

  • Ectopic Ossification, Familial

  • Cutaneous Ossification

  • Myositis Ossificans Progressiva

  • Osteodermia

  • Osteosis Cutis

  • Ossification Heterotopic

  • Heteroplasia, Osseous, Progressive

  • Fibrodysplasia Ossificans Progressiva

Lung Squamous Cell Carcinoma
  • Squamous Cell Carcinoma Of Lung

  • Squamous Cell Lung Carcinoma

  • Epidermoid Cell Carcinoma Of The Lung

  • Squamous Cell Lung Cancer

Bone Giant Cell Tumor
  • Giant Cell Tumor Of Bone

  • Osteoclastoma

  • Gct Of Bone

  • Bone Giant Cell Tumour

  • Giant Cell Myeloma

  • Giant Cell Neoplasm Of Bone

  • Giant Cell Tumour Of Bone

Myeloma, Multiple
  • Multiple Myeloma

  • Plasma Cell Myeloma

  • Kahler Disease

  • Myelomatosis

  • Medullary Plasmacytoma

  • Multiple Myeloma, Resistance To

  • Myeloma

  • Plasma Cell Dyscrasia

  • Kahler'S Disease

  • Multiple Myeloma, Susceptibility To

  • Myeloma - Multiple

  • Kahler-Bozzolo Disease

  • Plasma Cell Myelomas

  • MM

  • Plasma Cell Neoplasm

  • Primary Systemic Amyloidosis

  • Primary Amyloidosis

  • Immunoglobulin Deposition Disease

  • Plasmacytic Myeloma

  • Multiple Myelomata

  • Multiple Myeloma Nos

  • Multiple Myeloma Without Mention Of Remission

  • Monostotic Plasma Cell Myeloma

  • Mm - [Multiple Myeloma]

Ischemic Bone Disease
Brachydactyly, Type A1
  • Brachydactyly Type A1

  • BDA1

  • Farabee-Type Brachydactyly

  • Farabee Type Brachydactyly

  • Brachydactyly Farabee Type

  • Brachydactyly, Farabee Type

  • Brachydactyly A1

  • Brachydactyly

Bone Development Disease
Bone Remodeling Disease
Bone Resorption Disease
  • Bone Resorption

Renal Cell Carcinoma, Nonpapillary
  • Renal Cell Carcinoma

  • RCC

  • Nonpapillary Renal Cell Carcinoma

  • Clear Cell Renal Cell Carcinoma

  • Hypernephroma

  • Adenocarcinoma Of Kidney

  • Renal Carcinoma, Chromophobe, Somatic

  • Clear Cell Carcinoma Of Kidney

  • Clear-Cell Metastatic Renal Cell Carcinoma

  • Clear Cell Renal Carcinoma

  • Renal Cell Carcinoma, Somatic

  • Conventional Renal Cell Carcinoma

  • Conventional Renal Cell Carcinoma

  • Renal Clear Cell Carcinoma

  • Ccrcc

  • Hereditary Clear Cell Renal Cell Carcinoma

  • Carcinoma, Renal Cell

  • Renal Cell Carcinoma, Clear Cell, Somatic

  • Renal Cell Carcinoma, Clear Cell

  • Clear Cell Kidney Carcinoma

  • Clear Cell Rcc

  • Cystic-Multilocular Variant

  • Clear Cell Renal Cell Adenocarcinoma

  • Hereditary Clear Cell Renal Cell Adenocarcinoma

  • Common Renal Cell Carcinoma

  • Crcc

  • Renal Cell Carcinoma Non-Papillary

  • Carcinoma Renal Cell

  • Renal Cell Cancer

  • Carcinoma, Renal Cell, Nonpapillary

Thyroid Gland Anaplastic Carcinoma
  • Anaplastic Thyroid Carcinoma

  • Anaplastic Thyroid Cancer

  • Thyroid Cancer, Anaplastic

  • Thyroid Carcinoma, Anaplastic

  • Thyroid Carcinoma Anaplastic

Leukemia, Acute Lymphoblastic
  • Acute Lymphoblastic Leukemia

  • ALL

  • Acute Lymphocytic Leukemia

  • Leukemia, Acute Lymphocytic, Susceptibility To, 1

  • Acute Lymphoblastic Leukaemia

  • Precursor Lymphoblastic Lymphoma/Leukemia

  • Precursor Lymphoid Neoplasm

  • Leukemia, Acute Lymphoblastic, Susceptibility To

  • B-Cell Acute Lymphoblastic Leukemia

  • Leukemia, Acute Lymphocytic 1

  • Acute Lymphocytic Leukaemia

  • Acute Lymphoblastic Leukemia/Lymphoma

  • All1

  • Childhood Acute Lymphoblastic Leukemia

  • Leukemia Acute Lymphoblastic 1

  • Leukemia Acute Lymphoblastic B-Hyperdiploid

  • Leukemia Acute Lymphocytic

  • Leukemia Acute Lymphocytic 1

  • Leukemia B-Cell Acute Lymphoblastic

  • Leukemia T-Cell Acute Lymphoblastic

  • Leukemia, Acute Lymphoblastic, 3

  • ALL3

  • Lymphoblastic Leukemia Acute

  • Leukemia, Acute, Lymphoblastic

  • Precursor Cell Lymphoblastic Leukemia Lymphoma

  • Leukemia, Lymphocytic, Acute, L1

  • Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Congenital Granular Cell Tumor
Brittle Bone Disorder
  • Osteogenesis Imperfecta

  • Brittle Bone Disease

  • Fragilitas Ossium

  • Osteopsathyrosis

  • Lobstein Disease

  • Oi

  • Vrolik Disease

  • Lobstein'S Disease

  • Lobstein'S Syndrome

  • Vrolik'S Disease

  • Porak And Durante Disease

  • Glass Bone Disease

  • Osteogenesis Imperfecta, Dominant Perinatal Lethal

  • Osteogenesis Imperfecta, Recessive Perinatal Lethal

  • Brittle Bone Syndrome

  • Oi - [Osteogenesis Imperfecta]

  • Ossium Fragility

  • Osteitis Fragilitans

  • Bony Fragility

  • Blue Sclera With Fragility Of Bone And Deafness

  • White Blue Sclera - Fragility Of Bone - Deafness

Breast Adenocarcinoma
  • Mammary Adenocarcinoma

  • Adenocarcinoma Of Breast

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
Canis familiaris PTHLH VGNC VGNC:45157
Felis catus PTHLH VGNC VGNC:69149
Mus musculus PTHLH MGD MGI:97800
Bos taurus PTHLH VGNC VGNC:33517
Rattus norvegicus PTHLH RGD RGD:3441
Macaca mulatta PTHLH VGNC VGNC:76590
Others PTHLH NCBI