Hemochromatosis, type 2B

General Information (adopted from Orphanet):

Synonyms, Signs: HFE2B
Hemochromatosis, juvenile
Number of Symptoms 18
OrphanetNr:
OMIM Id: 613313
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
15747119 [IBIS]
Age of onset: Adolescent
Adult
15747119 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Hemochromatosis type 2
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -Rare genetic disease
 -Rare hepatic disease

Comment:

This form of juvenile hemochromatosis (HFE2B) is caused by homozygous mutation in the HAMP gene (OMIM).

Symptom Information: Sort by abundance 

1
(HPO:0001824) Weight loss 22297252 IBIS 42 / 7739
2
(HPO:0005162) Left ventricular failure 15099344 IBIS 18 / 7739
3
(HPO:0001638) Cardiomyopathy 12469120 IBIS 192 / 7739
4
(HPO:0001635) Congestive heart failure 15198949 IBIS 232 / 7739
5
(HPO:0011031) Abnormality of iron homeostasis Very frequent [IBIS] 12469120 IBIS 16 / 7739
6
(HPO:0012463) Elevated transferrin saturation Very frequent [IBIS] 15198949; 22297252 IBIS 10 / 7739
7
(HPO:0003281) Increased serum ferritin Very frequent [IBIS] 12469120; 15198949; 15099344; 22297252 IBIS 32 / 7739
8
(HPO:0002829) Arthralgia 15099344 IBIS 79 / 7739
9
(HPO:0001394) Cirrhosis 12469120; 15198949; 15099344 IBIS 102 / 7739
10
(HPO:0001410) Decreased liver function 22297252 IBIS 59 / 7739
11
(HPO:0002910) Elevated hepatic transaminases 15198949; 15099344 IBIS 158 / 7739
12
(HPO:0001395) Hepatic fibrosis 12469120 IBIS 67 / 7739
13
(HPO:0001405) Periportal fibrosis 15099344 IBIS 5 / 7739
14
(HPO:0001433) Hepatosplenomegaly 15198949 IBIS 78 / 7739
15
(HPO:0000135) Hypogonadism 12469120; 22297252 IBIS 89 / 7739
16
(HPO:0000044) Hypogonadotrophic hypogonadism 15198949; 15099344 IBIS 56 / 7739
17
(HPO:0000953) Hyperpigmentation of the skin Frequent [IBIS] 15198949; 22297252 IBIS 75 / 7739
18
(HPO:0000819) Diabetes mellitus 15198949; 15099344; 22297252 IBIS 131 / 7739

Associated genes:

HAMP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by ...
Clinical Description OMIM Papanikolaou et al. (2002) reported a single inbred pedigree with juvenile hemochromatosis that was not linked to 1q. The 2 affected daughters of third-cousin parents had a typical JH phenotype.
Molecular genetics OMIM Roetto et al. (2003) studied 2 families with juvenile hemochromatosis not linked to 1q, including the one studied by Papanikolaou et al. (2002). Using microsatellite markers encompassing a region of 2.7 cM on 19q13 in one family, they ...