Hemochromatosis type 2

General Information (adopted from Orphanet):

Synonyms, Signs: Juvenile hemochromatosis
Number of Symptoms 11
OrphanetNr: 79230
OMIM Id: 602390
613313
ICD-10: E83.1
UMLs:
MeSH: C537247
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1
Inheritance: Autosomal recessive
15747119 [IBIS]
Age of onset: Adolescent
Adult
15747119 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Rare hereditary hemochromatosis
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -Rare genetic disease
 -Rare hepatic disease

Comment:

Two types of the disease have been described, both being transmitted in an autosomal recessive way. Type 2A, the most frequent form, is caused by mutations in the hemojuvelin (HFE2) gene on chromosome 1 and type 2B is caused by mutations in the hepcidin (HAMP) gene on chromosome 19. These mutations result in complete or major hepcidin deficiency, thus increasing drastically duodenal iron absorption and iron release from the spleen (Orphanet). This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. Juvenile hemochromatosis comprises the following Phenodis entries: Phenodis:10851 Hemochromatosis, type 2A, OMIM:602390; Phenodis:11565 Hemochromatosis, type 2B, OMIM:613313;

Symptom Information: Sort by abundance 

1
 (HPO:0000078) Abnormality of the genital system Very frequent [Orphanet] 22408404 IBIS 33 / 7739
2
 (HPO:0000044) Hypogonadotrophic hypogonadism 22408404 IBIS 56 / 7739
3
 (HPO:0000818) Abnormality of the endocrine system 22408404 IBIS 26 / 7739
4
 (HPO:0000819) Diabetes mellitus Very frequent [Orphanet] 22408404 IBIS 131 / 7739
5
 (HPO:0001369) Arthritis 22408404 IBIS 44 / 7739
6
 (HPO:0001394) Cirrhosis 22408404 IBIS 102 / 7739
7
 (HPO:0001410) Decreased liver function 22408404 IBIS 59 / 7739
8
 (HPO:0000953) Hyperpigmentation of the skin Very frequent [Orphanet] hallmark [HPO] 22408404 IBIS 75 / 7739
9
 (HPO:0001638) Cardiomyopathy 22408404 IBIS 192 / 7739
10
 (HPO:0011031) Abnormality of iron homeostasis Very frequent [IBIS] Very frequent [Orphanet] 22408404 IBIS 16 / 7739
11
 (HPO:0003281) Increased serum ferritin Very frequent [IBIS] Very frequent [Orphanet] 22408404 IBIS 32 / 7739

Associated genes:

HJV; HAMP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: