HAMP - hepcidin antimicrobial peptide Gene

Also Known as HEPC; PLTR; HFE2B; LEAP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57817

About HAMP

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,282,528-35,285,143 (from NCBI)

This gene has 3 transcripts (splice variants), 85 orthologues and is associated with 3 phenotypes. Biased expression in liver (RPKM 88.9) and heart (RPKM 10.6).

Summary

The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 Amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]

HAMP Products (1)

mRNA Protein Name
NM_021175.4 NP_066998.1 hepcidin preproprotein
Molecular Function GO Annotation Evidence Verweise Source
enables hormone activity IDA
IDA: Inferred from direct assay
15514116 GOA
enables iron ion transmembrane transporter inhibitor activity IDA
IDA: Inferred from direct assay
15514116 GOA
enables signaling receptor binding IPI
IPI: Inferred from physical interaction
15514116 GOA
enables transporter regulator activity IDA
IDA: Inferred from direct assay
29237594 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
IDA: Inferred from direct assay
11034317 GOA
involved in defense response to Gram-negative bacterium IDA
IDA: Inferred from direct assay
11034317 GOA
involved in defense response to Gram-positive bacterium IDA
IDA: Inferred from direct assay
11034317 GOA
involved in defense response to fungus IDA
IDA: Inferred from direct assay
11113131 GOA
involved in intracellular iron ion homeostasis IDA
IDA: Inferred from direct assay
15514116 GOA
involved in killing of cells of another organism IDA
IDA: Inferred from direct assay
11113131 GOA
involved in multicellular organismal-level iron ion homeostasis IMP
IMP: Inferred from mutant phenotype
12469120 GOA
involved in negative regulation of intestinal absorption IMP
IMP: Inferred from mutant phenotype
12469120 GOA
involved in negative regulation of ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
15514116 GOA
involved in negative regulation of iron export across plasma membrane IDA
IDA: Inferred from direct assay
15514116 GOA
involved in negative regulation of iron ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
15514116 GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
37277838 GOA
involved in positive regulation of protein polyubiquitination IDA
IDA: Inferred from direct assay
22682227 GOA
involved in positive regulation of receptor catabolic process IDA
IDA: Inferred from direct assay
15514116 GOA
involved in positive regulation of receptor internalization IDA
IDA: Inferred from direct assay
15514116 GOA
involved in response to iron ion IMP
IMP: Inferred from mutant phenotype
12469120 GOA
Cellular Component GO Annotation Evidence Verweise Source
is active in extracellular space IDA
IDA: Inferred from direct assay
37277838 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
11113131 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

HAMP Protein Structure

Hepcidin

Hepcidin: Hepcidin (33 - 84)

  • 0
  • 84 a.a.
Protein Preferred Names Protein Names

hepcidin

  • hepcidin preproprotein

Recombinant HAMP Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P70400 Hepcidin/HAMP Protein, Human (GST) P81172 (D60-T84) ≥ 90%, as determined by reducing SDS-PAGE.

HAMP Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P86908 Hepcidin Antibody (YA6601) WB, IHC-P Human, Rat

Related Diseases

Diseases Alias
Hemochromatosis, Type 2b
  • Hemochromatosis Type 2b

  • HFE2B

  • Hemochromatosis 2b

Hemochromatosis Type 2
  • Juvenile Hemochromatosis

  • Juvenile Hereditary Hemochromatosis

  • Hfe2

  • Jhh

  • Hemochromatosis Juvenile

  • Iron Overload Disease Juvenile

  • Hemochromatosis, Juvenile

  • Hemochromatosis, Type 2

  • Hemochromatosis

  • Hemochromatosis, Type 1

Hemochromatosis, Type 1
  • Hemochromatosis

  • Hemochromatosis Type 1

  • Hereditary Hemochromatosis

  • Hh

  • HFE1

  • Hfe Hemochromatosis, Modifier Of

  • Symptomatic Form Of Classic Hemochromatosis

  • Symptomatic Form Of Hemochromatosis Type 1

  • Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

  • Haemochromatosis

  • Iron Storage Disorder

  • Bronze Diabetes

  • Hereditary Haemochromatosis

  • Hlah

  • Hfe

  • Hemochromatosis, Hereditary

  • Diabetes Bronze

  • Classic Hemochromatosis

  • Hfe-Associated Hereditary Hemochromatosis

  • Hemochromatosis Classic

  • Bronzed Cirrhosis

  • Familial Hemochromatosis

  • Genetic Hemochromatosis

  • Hc

  • Pigmentary Cirrhosis

  • Primary Hemochromatosis

  • Troisier-Hanot-Chauffard Syndrome

  • Von Recklenhausen-Applebaum Disease

  • Hemochromatosis 1

  • Primary Hereditary Hemochromatosis

  • Bronze Cirrhosis

Deficiency Anemia
  • Anemia

  • Deficiency Anemias

  • Anaemia

Iron Deficiency Anemia
  • Iron-Deficiency Anemia

  • Fe Deficiency Anaemia

  • Ida - [Iron Deficiency Anemia]

  • Fe - [Iron] Deficiency Anemia Nos

Porphyria Cutanea Tarda
  • Hepatoerythropoietic Porphyria

  • HEP

  • Uroporphyrinogen Decarboxylase Deficiency

  • Pct

  • Pct, Type Ii

  • Porphyria, Hepatocutaneous Type

  • Urod Deficiency

  • Porphyria, Hepatoerythropoietic

  • Porphyria Cutanea Tarda, Susceptibility To

  • Familial Porphyria Cutanea Tarda

  • Porphyria Cutanea Tarda, Type Ii

  • Pct, 'Familial' Type

  • Porphyria, Hepatic

  • FPCT

  • Pct Type Ii

  • Porphyria Cutanea Tarda Type Ii

  • Porphyria Hepatocutaneous Type

  • Heterozygous Uroporphyrinogen Decarboxylase Deficiency

  • Urod - [Uroporphyrinogen Decarboxylase] Deficiency

  • Pct - [Porphyria Cutanea Tarda]

Metal Metabolism Disorder
  • Metal Metabolism, Inborn Errors

  • Inborn Metal Metabolism Disorder

Rare Hereditary Hemochromatosis
  • Iron Overload

  • Iron Overload Disease

  • Idiopathic Haemosiderosis

  • Hemosiderosis

Hemochromatosis, Type 4
  • Hemochromatosis Type 4

  • Hemochromatosis Due To Defect In Ferroportin

  • HFE4

  • Hemochromatosis, Autosomal Dominant

  • Autosomal Dominant Hereditary Hemochromatosis

  • Ferroportin Disease

  • Hemochromatosis 4

  • Hemochromatosis Autosomal Dominant

Porphyria
  • Hematoporphyria

  • Porphyrias

  • Disorder Of Porphyrin And Hem Metabolism

  • Disorder Of Porphyrin Metabolism

  • Porphyrinopathy

  • Porphyrin Disorder

  • Disorder Of Porphyrin And Heme Metabolism

  • Disorders Of Porphyrin Metabolism

Anemia, Sideroblastic, 1
  • Xlsa

  • X-Linked Sideroblastic Anemia

  • Hypochromic Anemia

  • Anh1

  • Hereditary Iron-Loading Anemia

  • Anemia, Sideroblastic, X-Linked

  • Anemia, Hereditary Sideroblastic

  • Erythroid 5-Aminolevulinate Synthase Deficiency

  • Hereditary Sideroblastic Anemia

  • SIDBA1

  • Anemia, Hypochromic

  • Sideroblastic Anemia 1

  • Anemia Hypochromic

  • X Chromosome-Linked Sideroblastic Anemia

  • Sideroblastic Anaemia 1

  • X-Linked Sideroblastic Anaemia

  • Anemia Hereditary Sideroblastic

  • Anemia Sex-Linked Hypochromic Sideroblastic

  • Congenital Sideroblastic Anemia

  • Sideroblastic Anemia X-Linked

  • Anemia, Sex-Linked Hypochromic Sideroblastic

  • Congenital Sideroblastic Anaemia

  • X-Linked Pyridoxine-Responsive Sideroblastic Anemia

  • Anemia Congenital Sideroblastic

  • Anemia, Sideroblastic, Type 1

  • Sex-Linked Hypochromic Sideroblastic Anaemia

  • Autosomal Recessive Sideroblastic Anaemia

  • Familial Sex Linked Hypochromic Anaemia

Beta-Thalassemia Intermedia
Atransferrinemia
  • Familial Hypotransferrinemia

  • Congenital Atransferrinemia

  • Hypotransferrinemia, Familial

  • Congenital Hypotransferrinemia

  • ATRAF

Sideroblastic Anemia
  • Anemia Sideroblastic

  • Anemia, Sideroblastic

  • Anemia, Hypochromic With Iron Loading

Thalassemia
  • Sickle-Cell Thalassemia With Crisis

  • Sickle-Cell Thalassemia Without Crisis

  • Thalassemia Hb-S Disease With Crisis

  • Thalassemia Hb-S Disease Without Crisis

  • Thalassemias

  • Hereditary Leptocytosis

  • Haemoglobin Thalassaemia Disorder

  • Thalassaemia Syndrome

  • Thalassaemia Nos

  • Thalassemia Variants

Beta-Thalassemia
  • Beta Thalassemia

  • Cooley'S Anemia

  • Mediterranean Anemia

  • Beta Thalassemia Intermedia

  • Erythroblastic Anemia

  • Thalassemia, Hispanic Gamma-Delta-Beta

  • Thalassemia Major

  • Thalassemia Minor

  • Beta-Plus-Thalassemia

  • Thalassemia, Beta

  • Beta Thalassemia Major

  • Beta Thalassemia Minor

  • Thalassemias, Beta-

  • Microcytemia, Beta Type

  • Thalassemia, Beta Type

  • B-THAL

  • Mediterranean Anaemia

  • Beta Thalassaemia Syndrome

  • Mediterranean Disease

  • Beta Thalassaemia Disease

Restless Legs Syndrome
  • Wed

  • Willis-Ekbom Disease

  • Restless Leg Syndrome

  • Ekbom Syndrome

  • Wittmaack-Ekbom Syndrome

  • Willis Ekbom Disease

  • Ekbom'S Syndrome

  • Rls

  • Restless Legs

  • Restless Legs Syndrome, Susceptibility To

Hemochromatosis, Type 3
  • Hemochromatosis Type 3

  • HFE3

  • Hemochromatosis Due To Defect In Transferrin Receptor 2

  • Tfr2-Related Hemochromatosis

  • Tfr2-Related Hereditary Hemochromatosis

  • Hemochromatosis 3

Folic Acid Deficiency Anemia
  • Folate Deficiency Anaemia

  • Folic Acid Deficiency Anaemia

  • Folate Deficiency Anemia

  • Folate-Deficiency Anaemia

  • Folate-Deficiency Anemia

  • Folate-Deficient Megaloblastic Anaemia

  • Megaloblastic Anemia Due To Folate Deficiency

  • Anaemia Of Folate Deficiency

  • Folate Or Folic Acid Deficiency Anaemia Nos

  • Folic Acid Deficiency Anaemia Nos

  • Acquired Megaloblastic Anaemia Due To Nutritional Folate Deficiency

  • Dietary Folic Acid Deficiency Anaemia

  • Dietary Folate Deficiency Anaemia

  • Folate Deficiency Anaemia Due To Dietary Causes

  • Goat'S Milk Anaemia

  • Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Increased Requirement

  • Megaloblastic Anaemia Due To Increased Requirements Of Folate

  • Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Intestinal Disorders

  • Acquired Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate

  • Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate

Anemia Of Prematurity
Polycythemia
  • Erythrocythemia

  • Polycythemia Vera

  • Polycythaemia Due To High Altitude

Beta-Thalassemia Major
  • Cooley'S Anemia

  • Cooley Anemia

  • Mediterranean Anemia

Anemia, Congenital Dyserythropoietic, Type Ia
  • Congenital Dyserythropoietic Anemia Type I

  • Cda I

  • CDAN1A

  • Congenital Dyserythropoietic Anemia Type 1

  • Congenital Dyserythropoietic Anemia Type Ia

  • Congenital Dyserythropoietic Anemia, Type I

  • Anemia, Congenital Dyserythropoietic, Type I

  • Cda Type 1

  • Cda Type I

  • Cda Ia

  • Dyserythropoietic Anemia, Congenital Type 1

  • Anemia, Congenital Dyserythropoietic, Type 1a

  • Dyserythropoietic Anemia, Congenital, Type Ia

  • Cda, Type Ia

  • Congenital Dyserythropoietic Anaemia Type 1

  • Congenital Dyserythropoietic Anaemia Type I

  • Anemia, Dyserythropoietic, Congenital Type 1

  • Type I Congenital Dyserythropoietic Anemia

  • Anemia, Congenital Dyserythropoietic, 1a

  • Anemia, Dyserythropoietic, Congenital, Type Ia

Arthropathy
  • Ankylosis Of Ankle And Foot Joint

  • Ankylosis Of Forearm Joint

  • Ankylosis Of Hand Joint

  • Ankylosis Of Joint Of Ankle And/Or Foot

  • Ankylosis Of Joint Of Forearm

  • Ankylosis Of Joint Of Hand

  • Ankylosis Of Joint Of Lower Leg

  • Ankylosis Of Joint Of Multiple Sites

  • Ankylosis Of Joint Of Pelvic Region And Thigh

  • Ankylosis Of Joint Of Shoulder Region

  • Ankylosis Of Joint Of Upper Arm

  • Ankylosis Of Lower Leg Joint

  • Ankylosis Of Multiple Joints

  • Ankylosis Of Upper Arm Joint

  • Infectious Arthropathy

  • Joint Ankylosis Of The Ankle And Foot

  • Joint Ankylosis Of The Ankle And/Or Foot

  • Joint Ankylosis Of The Forearm

  • Joint Ankylosis Of The Hand

  • Joint Ankylosis Of The Lower Leg

  • Joint Ankylosis Of The Pelvic Region And Thigh

  • Joint Ankylosis Of The Shoulder Region

  • Joint Ankylosis Of The Upper Arm

  • Joint Diseases

  • Joint Disease

  • Arthropathy Associated With Infection

Iron Overload In Africa
  • African Iron Overload

  • Bantu Siderosis

  • African Hemochromatosis

  • Hereditary Iron Overload And African Americans

  • African Nutritional Hemochromatosis

  • African Siderosis

Hypochromic Microcytic Anemia
  • Anemia, Hypochromic Microcytic

  • Microcytic Hypochromic Anemia

Alpha-1-Antitrypsin Deficiency
  • Alpha 1-Antitrypsin Deficiency

  • Alpha-1 Antitrypsin Deficiency

  • Aat Deficiency

  • Aatd

  • A1ATD

  • Emphysema Due To Aat Deficiency

  • A1at Deficiency

  • Emphysema-Cirrhosis, Due To Aat Deficiency

  • Hemorrhagic Diathesis Due To Antithrombin Pittsburgh

  • Alpha-1 Antiprotease Deficiency

  • Alpha 1 Antitrypsin Deficiency

  • Aat

  • Alpha-1 Protease Inhibitor Deficiency

  • Alpha-1 Related Emphysema

  • Genetic Emphysema

  • Hereditary Pulmonary Emphysema

  • Inherited Emphysema

  • Alpha-1-Proteinase Inhibitor Deficiency

  • Alpha1-Antitrypsin Deficiency

  • Alpha-1-Antitrypsin Deficiency, Autosomal Recessive

  • Emphysema, Hereditary Pulmonary

  • Aatd - [Alpha-1-Antitrypsin] Deficiency

Hemosiderosis
  • Haemosiderosis

  • Iron Overload

Malaria
  • Malaria, Susceptibility To

  • Malaria, Resistance To

  • Malaria, Cerebral

  • Cerebral Malaria

  • Malaria, Severe, Susceptibility To

  • Malaria, Severe, Resistance To

  • Malaria, Cerebral, Susceptibility To

  • Induced Malaria

  • Malaria, Vivax, Protection Against

  • Malaria, Severe

  • Malaria, Cerebral, Reduced Risk Of

  • Malaria, Protection Against

  • Resistance To Malaria Due To G6pd Deficiency

  • Malaria Due To G6pd Deficiency

  • Malarial Encephalitis

  • CM

  • Malaria Cerebral

  • Susceptibility To Malaria

  • Acute Pernicious Fever

  • Aestivo-Autumnal Fever

  • Aestivo Autumnal Malaria

  • Chagres Fever

  • Continued Malaria Fever

  • Estivo-Autumnal Fever

  • Estivo-Autumnal Malaria

  • Estivo-Autumnal Malarial Fever

  • Falciparum Fever

  • Malignant Tertian Fever

  • Malignant Tertian Malaria

  • Pernicious Intermittent Fever

  • Pernicious Malaria

  • Quotidian Malaria

  • Subtertian Fever

  • Subtertian Malaria Fever

  • Subtertian Malignant Tertian Malaria

  • Tropical Malaria

  • Algid Malaria

  • Bilious Haemoglobinuric Fever

  • Black Water Fever

  • Blackwater Fever

  • Malarial Blackwater Fever

  • Severe Malarial Falciparum

  • West African Fever

  • Malarial Haematinuria

  • Haemoglobinuric Fever

  • Haemoglobinuric Malaria

  • Severe Plasmodium Falciparum Malaria

  • Malarial Haemoglobinuria

  • Malarial Haematuria

  • Falciparum Malaria [Malignant Tertian]

  • Malaria Tropica

  • Malarial Shock

  • Chagres Virus Disease

  • Malignant Malaria

  • Mtm - [Malignant Tertian Malaria]

  • Tm -[Malignant Tertian Malaria]

  • Panama Fever

  • St - [Subtertian Malaria]

  • Malarial Quotidian

  • Benign Tertian Malaria

  • Tertian Ague

  • Vivax Fever

  • Plasmodium Vivax Malaria Nos

  • Btm - [Benign Tertian Malaria]

  • Bt - [Benign Tertian Malaria]

  • Vivax Malaria

  • Benign Tertian Vivax Malaria

  • Tertian Malaria

  • Quartan Malaria

  • Quartan Ague

  • Quartan Fever

  • Plasmodium Malariae Malaria Nos

  • Quartan Malarial

  • Malaria By Plasmodium Malariae

  • Malariae Malaria

  • Ovale Tertian Malaria

  • Plasmodium Ovale Fever

  • Malaria Fever By Plasmodium Ovale

  • Ovale Malaria

  • Malaria By Plasmodium Ovale

  • Malarial Ovale

  • Marsh Fever

  • Remittent Congestive Fever

  • Coastal Fever

  • Remittent Gastric Fever

  • Miasmatic Fever

  • Congestive Remittent Fever

  • Intermittent Fever

  • Jungle Fever

  • Paludism

  • Cameroon Fever

  • Ague

  • Corsican Fever

  • Intermittent Bilious Fever

  • Disease Due To Plasmodiidae

  • Malarial Fever

  • Plasmodiosis

  • Remittent Fever

  • Roman Fever

  • Malaria Fever Nos

  • Malaria Nos

  • Paludal Fever

  • Clinically Diagnosed Malaria

  • Clinically Diagnosed Malaria Without Parasitological Confirmation

  • Congestive Fever

  • Malarial Cachexia

  • Marsh Cachexia

  • Paludal Cachexia

  • Recurrent Malaria

  • Remittent Malaria

Iron Metabolism Disease
  • Iron Deficiency

  • Iron Disorder

  • Iron Metabolism Disorders

  • Disorder Of Iron Metabolism

  • Iron

  • Fe Deficiency

  • Iron Storage Disease

  • Iron Storage Disorder

Microcytic Anemia
  • Iron-Refractory Iron Deficiency Anemia

Nutritional Deficiency Disease
  • Malnutrition

  • Nutritional Disorder

  • Nutritional Deficiency

  • Nutrition

  • Deficiency Diseases

  • Carbamoyl-Phosphate Synthase I Deficiency Disease

  • Nutrition Disorders

Thalassemia Minor
Polycythemia Vera
  • PV

  • Polycythemia Rubra Vera

  • Prv

  • Osler-Vaquez Disease

  • Chronic Erythremia

  • Polycythaemia Rubra Vera

  • Primary Polycythemia

  • Vaquez Disease

  • Polycythemia Vera, Somatic

  • Osler-Vaquez Syndrome

  • Proliferative Polycythaemia

  • Polycythemia Ruba Vera

  • Acquired Primary Erythrocytosis

  • Heilmeyer-Schoner Disease

  • Vaquez Osler Disease

  • Primary Polycythaemia

Hyperferritinemia With Or Without Cataract
  • Hyperferritinemia-Cataract Syndrome

  • Hhcs

  • Hereditary Hyperferritinemia With Congenital Cataracts

  • Hyperferritinemia, Hereditary, With Congenital Cataracts

  • Bonneau-Beaumont Syndrome

  • HRFTC

  • Hereditary Hyperferritinemia-Cataract Syndrome

  • Cataract-Hyperferritinemia Syndrome

  • Hyperferritinemia Cataract Syndrome

  • Hereditary Hyperferritinemia Cataract Syndrome

Siderosis
  • Pulmonary Siderosis

  • Deposition Of Iron

  • Arc-Welders' Disease

  • Arc-Welders' Lung

  • Arc-Welders' Nodulation

  • Arc-Welders' Pneumoconiosis

  • Iron Oxide Lung

  • Iron Pneumoconiosis

  • Pneumoconiosis Siderotico

  • Siderotic Lung Disease

  • Steel Grinders' Disease

  • Welders' Lung

  • Welders' Siderosis

  • Lung Fibrosis With Siderosis

Neonatal Anemia
  • Anemia Neonatal

  • Anemia, Neonatal

  • Anaemia Neonatal

  • Neonatal Anaemia

Mineral Metabolism Disease
  • Mineral Metabolism Disorder

  • Disorder Of Mineral Metabolism

Congenital Dyserythropoietic Anemia
  • Congenital Dyshaematopoietic Anaemia

  • Dyserythropoietic Anemia, Congenital

  • Cda

  • Anemia, Dyserythropoietic, Congenital

  • Anemia Dyserythropoietic Congenital

  • Cda - [Congenital Dyserythropoietic Anaemia]

  • Dyserythropoietic Dyshaematopoietic Congenital Anaemia

  • Dyshaematopoietic Anaemia

  • Dyserythropoietic Anaemia

Acute Porphyria
  • Porphyrias, Hepatic

  • Hepatic Porphyria

  • Porphyria Hepatic

  • Acute Intermittent Porphyria

Hemoglobin H Disease
  • HBH

  • Hemoglobin H Disease, Nondeletional

  • Hemoglobin H Disease, Deletional

  • Alpha-Thalassemia Intermedia

  • Haemoglobin H Disease

  • Alpha-Thalassemia, Hemoglobin H Type

  • Hemoglobin H Disease, Deletional And Nondeletional

  • Alpha Thalassemia, Haemoglobin H Type

  • Alpha Thalassemia, Hemoglobin H Type

  • Haemoglobin H Disease, Deletional

  • Hbh Disease

  • Alpha-Thalassemia Hemoglobin H Type

  • Hemoglobin H Disease Deletional

  • Hemoglobin H Disease Non-Deletional

  • Alpha-Thalassemia

  • Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia

  • Alpha Thalassaemia Intermedia

Congenital Hemolytic Anemia
  • Anemia Hemolytic Congenital

  • Anemia, Hemolytic, Congenital

  • Congenital Hemolytic Anaemia

  • Hereditary Hemolytic Anaemia

  • Hereditary Hemolytic Anemia

Hemoglobinopathy
  • Hemoglobinopathies

Vitamin B12 Deficiency
  • Cobalamin Deficiency

  • Hypocobalaminemia

  • Vitamin B 12 Deficiency

  • Cyanocobalamin Deficiency

  • Deficiency Of Vitamin B12

Cutaneous Porphyria
  • Porphyria, Erythropoietic

  • Erythropoietic Porphyria

Vitamin Metabolic Disorder
Multicentric Castleman Disease
  • Mcd

  • Multicentric Giant Lymph Node Hyperplasia

  • Plasmablastic Multicentric Castleman Disease

  • Pmcd

  • Idiopathic Multicentric Castleman Disease

  • Multi-Centric Castleman'S Disease

  • Idiopathic Multicentric Castleman'S Disease

  • Multicentric Plasma Cell Variant Of Castleman'S Disease

  • Hhv-8-Negative Multicentric Castleman Disease

  • Human Herpesvirus-8-Negative Multicentric Castleman Disease

Erythrocytosis, Familial, 2
  • Chuvash Polycythemia

  • ECYT2

  • Familial Erythrocytosis 2

  • Autosomal Recessive Benign Erythrocytosis

  • Polycythemia, Vhl-Dependent

  • Chuvash Erythromatosis

  • Chuvash Type Polycythemia

  • Chuvash Erythrocytosis

  • Von Hippel-Lindau-Dependent Polycythemia

  • Polycythemia Chuvash Type

  • Vhl-Dependent Polycythemia

  • Erythrocytosis, Familial, Type 2

Sickle Cell Anemia
  • Hemoglobin Sc Disease

  • Anemia, Sickle Cell

  • Hbsc Disease

  • Sickle Cell-Hemoglobin C Disease Syndrome

  • Hb Ss Disease

  • Sickle Cell Trait

  • Drepanocytosis

  • Haemoglobin Sc Disease

  • Hb Sc Disease

  • Hb-S/Hb-C Disease

  • Hb-Ss Disease Without Crisis

  • Hemoglobin S Disease Without Crisis

  • Sickle Cell Anaemia

  • Sickle-Cell/Hb-C Disease Without Crisis

  • Sickle Cell - Hemoglobin C Disease

  • Hbs Disease

  • Hemoglobin S Disease

  • Sickling Disorder Due To Hemoglobin S

  • SKCA

  • Sickle Cell Disease

  • Sickle Cell-Hemoglobin C Disease

  • Sickle-Cell Disease Carrier

  • Sickle-Cell Heterozygous Disorder

  • Haemoglobin A-S Genotype

  • Hb-S - [Sickle Cell Haemoglobin] Carrier

  • Sickle Cell Haemoglobin Trait

  • As - [Sickle Cell Trait]

  • Hbas - [Sickle Cell Haemoglobin Trait]

  • Sickle-Cell Trait Haemoglobin Disease

  • Haemoglobin Sickle Cell Trait Disorder

  • Heterozygous Sickle Cell Trait

  • Hbas - [Heterozygous Haemoglobin S]

Lung Clear Cell Carcinoma
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
  • Dehydrated Hereditary Stomatocytosis

  • Hereditary Xerocytosis

  • Xerocytosis, Hereditary

  • Pshk1

  • Pseudohyperkalemia Edinburgh

  • Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema

  • DHS1

  • Dhs

  • Hereditary Desiccytosis

  • Dehydrated Hereditary Stomatocytosis 1

  • Desiccytosis, Hereditary

  • Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak

  • Pseudohyperkalemia Familial 1, Due To Red Cell Leak

  • Desiccytosis Hereditary

  • Xerocytosis Hereditary

  • Familial Pseudohyperkalemia 1 Due To Red Cell Leak

  • Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema

  • Xerocytosis

Aceruloplasminemia
  • Cerebellar Ataxia

  • Hypoceruloplasminemia

  • Hemosiderosis, Systemic, Due To Aceruloplasminemia

  • Familial Apoceruloplasmin Deficiency

  • Hereditary Ceruloplasmin Deficiency

  • Deficiency Of Ferroxidase

  • Hypoceruloplasminemia, Hereditary

  • Ceruloplasmin Deficiency

  • Systemic Hemosiderosis Due To Aceruloplasminemia

  • ACERULOP

Hemolytic Anemia
  • Anemia, Hemolytic

  • Anemia Hemolytic

  • Anaemia Due To Other Disorders Of Glutathione Metabolism

  • Chronic Non Spherocytic Anaemia

  • G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

  • Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

  • Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

  • Favism Anaemia

  • Haemolytic Anaemia Due Tog6pd Deficiency

  • Favism

  • Pentose Phosphate Pathway Disorder Anaemia

  • Anaemia Due To Pentose Phosphate Pathway Defect

Hereditary Spherocytosis
  • Congenital Spherocytic Hemolytic Anemia

  • Spherocytic Anemia

  • Congenital Spherocytosis

  • Spherocytosis, Type 1

  • Minkowski Chauffard Syndrome

  • Hs

  • Minkowski-Chauffard Disease

  • Minkowski-Chauffard Syndrome

  • Spherocytosis Hereditary

  • Spherocytosis, Hereditary

  • Anemia, Hereditary Spherocytic Hemolytic

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

Anemia, Congenital Dyserythropoietic, Type Ib
  • CDAN1B

  • Congenital Dyserythropoietic Anemia Type Ib

  • Cda, Type Ib

  • Congenital Dyserythropoietic Anemia Type Type 1b

  • Dyserythropoietic Anemia, Congenital, Type Ib

  • Anemia, Congenital Dyserythropoietic, 1b

  • Cda Ib

  • Anemia, Dyserythropoietic, Congenital

  • Anemia, Dyserythropoietic, Congenital, Type Ib

Autosomal Dominant Beta Thalassemia
  • Inclusion Body Beta-Thalassemia

Alpha-Thalassemia
  • Alpha Thalassemia

  • Alpha Thalassaemia

  • Alpha Plus Thalassemia

  • Thalassemia, Alpha-

  • Thalassemias, Alpha-

  • A-Thalassemia

  • Α-Thalassemia

  • A-THAL

  • Thalassemia

  • Alpha Thalassaemia Syndrome

Intracranial Cavernous Angioma
  • Intracranial Cavernoma

  • Intracranial Cavernous Hemangioma

Intracranial Structure Hemangioma
  • Angioma Of Intracranial Structure

  • Hemangioma Of Intracranial Structure

  • Hemangioma Of Intracranial Structures

Diamond-Blackfan Anemia
  • Congenital Pure Red Cell Aplasia

  • Aase Syndrome

  • Erythrogenesis Imperfecta

  • Anemia, Diamond-Blackfan

  • Congenital Hypoplastic Anemia

  • Aase-Smith Ii Syndrome

  • Bds

  • Blackfan-Diamond Anemia

  • Congenital Prca

  • Congenital Hypoplastic Anemia, Blackfan-Diamond Type

  • Dba

  • Blackfan - Diamond Syndrome

  • Chronic Constitutional Pure Red Cell Anaemia

  • Anemia Diamond Blackfan Type

  • Anemia Congenital Erythroid Hypoplastic

  • Aregenerative Anemia Chronic Congenital

  • Blackfan Diamond Syndrome

  • Red Cell Aplasia, Pure Hereditary

  • Aase-Smith Syndrome Ii

  • Bda

  • Blackfan Diamond Anemia

  • Blackfan-Diamond Disease

  • Blackfan-Diamond Syndrome

  • Chronic Congenital Agenerative Anemia

  • Congenital Erythroid Hypoplastic Anemia

  • Congenital Hypoplastic Anemia Of Blackfan And Diamond

  • Congenital Pure Red Cell Anemia

  • Hypoplastic Congenital Anemia

  • Inherited Erythroblastopenia

  • Pure Hereditary Red Cell Aplasia

  • Anemia, Hypoplastic, Congenital

  • Anemia Hypoplastic Congenital

  • Fanconi Anemia

  • Constitutional Aplastic Anemia

  • Diamond-Blackfan Anemia 1

  • Aase Smith Syndrome 2

  • Congenital Red Cell Aplasia

  • Red Cell Aplasia Of Infants

  • Pure Red Cell Aplasia Of Infants

  • Congenital Red Cell Aplastic Anaemia

  • Congenital Pure Red Cell Anaemia

  • Congenital Erythroid Hypoplasia

  • Pearson Marrow-Pancreas Syndrome

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
Bos taurus HAMP VGNC VGNC:29745
Canis familiaris HAMP VGNC VGNC:41588
Mus musculus HAMP MGD MGI:1933533
Rattus norvegicus HAMP RGD RGD:70971
Macaca mulatta HAMP VGNC VGNC:73171
Others HAMP NCBI