Hemochromatosis, type 2A

General Information (adopted from Orphanet):

Synonyms, Signs: Hemochromatosis, juvenile, included
HFE2A hemochromatosis, type 2, included
HFE2, included
JH, included
Number of Symptoms 65
OrphanetNr:
OMIM Id: 602390
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 (HFE2A) is caused by homozygous or compound heterozygous mutation in the gene encoding hemojuvelin (HJV, HFE2) (OMIM).

Symptom Information: Sort by abundance 

1
 (HPO:0000141) Amenorrhea 14982867; 16424663 IBIS 16 / 7739
2
 (HPO:0000802) Impotence 15997423 IBIS 20 / 7739
3
 (HPO:0000869) Secondary amenorrhea 15138164 IBIS 42 / 7739
4
 (HPO:0012569) Delayed menarche 16424663 IBIS 5 / 7739
5
 (HPO:0003076) Glycosuria 16099526 IBIS 32 / 7739
6
 (HPO:0000140) Abnormality of the menstrual cycle 20234129 IBIS 7 / 7739
7
 (HPO:0000044) Hypogonadotrophic hypogonadism 14982867; 15997423; 19796184; 15138164; 17768121; 15315789; 15710580; 15967692; 16424663 IBIS 56 / 7739
8
 (HPO:0000786) Primary amenorrhea 15315789 IBIS 61 / 7739
9
 (HPO:0012378) Fatigue 24584909 IBIS 50 / 7739
10
 (HPO:0001254) Lethargy 15710580 IBIS 104 / 7739
11
 (HPO:0008213) Gonadotropin deficiency 15997423 IBIS 6 / 7739
12
 (HPO:0000871) Panhypopituitarism 15710580 IBIS 8 / 7739
13
 (HPO:0000819) Diabetes mellitus 15138164; 15967692; 16099526; 24584909 IBIS 131 / 7739
14
 (HPO:0008230) Decreased testosterone in males 15997423; 24584909 IBIS 4 / 7739
15
 (HPO:0000823) Delayed puberty 15710580 IBIS 65 / 7739
16
 (HPO:0002797) Osteolysis 15997423 IBIS 68 / 7739
17
 (HPO:0100749) Chest pain 15138164 IBIS 92 / 7739
18
 (HPO:0002758) Osteoarthritis 15710580 IBIS 78 / 7739
19
 (HPO:0006253) Swelling of proximal interphalangeal joints 20234129 IBIS 3 / 7739
20
 (HPO:0002829) Arthralgia 17768121; 15710580 IBIS 79 / 7739
21
 (HPO:0004349) Reduced bone mineral density 15997423 IBIS 165 / 7739
22
 (HPO:0000939) Osteoporosis 15997423; 15710580 IBIS 129 / 7739
23
 (HPO:0004396) Poor appetite 24584909 IBIS 7 / 7739
24
 (HPO:0001409) Portal hypertension 18492090 IBIS 39 / 7739
25
 (HPO:0002027) Abdominal pain 15611318 IBIS 184 / 7739
26
 (HPO:0001541) Ascites 19796184 IBIS 94 / 7739
27
 (HPO:0006580) Portal fibrosis 15315789 IBIS 10 / 7739
28
 (HPO:0002240) Hepatomegaly 14982867; 15611318; 15138164; 18492090; 17768121 IBIS 467 / 7739
29
 (HPO:0001413) Micronodular cirrhosis 17768121; 15967692 IBIS 11 / 7739
30
 (HPO:0001410) Decreased liver function 15710580; 16424663 IBIS 59 / 7739
31
 (HPO:0001744) Splenomegaly 18492090 IBIS 337 / 7739
32
 (HPO:0001395) Hepatic fibrosis 15138164 IBIS 67 / 7739
33
 (HPO:0002910) Elevated hepatic transaminases 15138164; 18492090; 24584909 IBIS 158 / 7739
34
 (HPO:0003270) Abdominal distention 18492090 IBIS 46 / 7739
35
 (HPO:0001394) Cirrhosis 14982867; 18492090; 15710580; 16099526; 24584909 IBIS 102 / 7739
36
 (HPO:0004322) Short stature 15710580 IBIS 1232 / 7739
37
 (HPO:0001824) Weight loss 16424663 IBIS 42 / 7739
38
 (HPO:0002225) Sparse pubic hair 15997423 IBIS 76 / 7739
39
 (HPO:0003765) Psoriasis 15138164 IBIS 17 / 7739
40
 (HPO:0001009) Telangiectasia 18492090 IBIS 46 / 7739
41
 (HPO:0002215) Sparse axillary hair 15997423 IBIS 21 / 7739
42
 (HPO:0000953) Hyperpigmentation of the skin 14982867; 15138164; 16099526; 24584909 IBIS 75 / 7739
43
 (HPO:0001962) Palpitations 15138164 IBIS 62 / 7739
44
 (HPO:0002615) Hypotension 15967692 IBIS 52 / 7739
45
 (HPO:0001644) Dilated cardiomyopathy 15138164; 15967692; 15710580 IBIS 141 / 7739
46
 (HPO:0004756) Ventricular tachycardia 24584909 IBIS 55 / 7739
47
 (HPO:0004755) Supraventricular tachycardia 15611318 IBIS 20 / 7739
48
 (HPO:0001663) Ventricular fibrillation 19796184 IBIS 35 / 7739
49
 (HPO:0011675) Arrhythmia 19796184; 24584909 IBIS 226 / 7739
50
 (HPO:0005110) Atrial fibrillation 19796184; 15138164; 16424663 IBIS 71 / 7739
51
 (HPO:0001635) Congestive heart failure 19796184; 15315789; 15967692; 16424663; 24584909 IBIS 232 / 7739
52
 (HPO:0001723) Restrictive cardiomyopathy 16424663 IBIS 22 / 7739
53
 (HPO:0004751) Paroxysmal ventricular tachycardia 15967692 IBIS 5 / 7739
54
 (HPO:0001638) Cardiomyopathy 14982867; 15611318; 19796184; 24584909 IBIS 192 / 7739
55
 (HPO:0005162) Left ventricular failure 15315789 IBIS 18 / 7739
56
 (HPO:0003452) Increased serum iron Very frequent [IBIS] 7/7 [HPO] 14982867; 15138164; 15710580 IBIS 5 / 7739
57
 (HPO:0012463) Elevated transferrin saturation Very frequent [IBIS] 14982867; 15138164; 20234129; 18492090; 17768121; 17339196; 15315789; 15710580; 15967692; 16099526; 24584909 IBIS 10 / 7739
58
 (HPO:0012465) Elevated hepatic iron concentration 20234129; 18492090 IBIS 8 / 7739
59
 (HPO:0010741) Edema of the lower limbs 15967692 IBIS 34 / 7739
60
 (HPO:0003281) Increased serum ferritin Very frequent [IBIS] 4/4 [HPO] 14982867; 15138164; 20234129; 18492090; 17768121; 17339196; 15315789; 15710580; 15967692; 16099526; 24584909 IBIS 32 / 7739
61
 (HPO:0003074) Hyperglycemia 15138164; 16099526 IBIS 37 / 7739
62
 (HPO:0011031) Abnormality of iron homeostasis Very frequent [IBIS] 14982867 IBIS 16 / 7739
63
 (HPO:0002875) Exertional dyspnea 15967692 IBIS 29 / 7739
64
 (HPO:0002094) Dyspnea 15611318; 15138164; 16099526; 24584909 IBIS 132 / 7739
65
 (HPO:0001324) Muscle weakness 17768121 IBIS 859 / 7739

Associated genes:

HJV;

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). The common complications of ...
Clinical Description OMIM Cazzola et al. (1983) emphasized the special characteristics of juvenile hemochromatosis: onset with abdominal pain in the first decade, hypogonadotropic hypogonadism in the second decade, and cardiac arrhythmias and intractable heart failure in the third decade. Males and ...
Molecular genetics OMIM Papanikolaou et al. (2004) reported the positional cloning of the 1q locus associated with juvenile hemochromatosis and the identification of a gene (HJV) crucial to iron metabolism, the product of which they called hemojuvelin. Analysis of Greek, Canadian, ...