Hemochromatosis type 4

General Information (adopted from Orphanet):

Synonyms, Signs: HFE4
Hemochromatosis, autosomal dominant
Autosomal dominant hereditary hemochromatosis
Ferroportin disease
hemochromatosis due to defect in ferroportin
Number of Symptoms 27
OrphanetNr: 139491
OMIM Id: 606069
ICD-10: E83.1
UMLs: C1853733
MeSH: C537249
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000
Inheritance: Autosomal dominant
16351644 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

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

Comment:

Ferroportin is encoded by the SLC40A1 gene and mediates iron export from cells by interacting with hepcidin. SLC40A1 gene mutations are associated with an autosomal type of genetic iron overload described as haemochromatosis type 4, or HFE4, or ferroportin disease (PMID:16351644).

Symptom Information: Sort by abundance 

1
 (HPO:0000802) Impotence 11518736 IBIS 20 / 7739
2
 (HPO:0001337) Tremor 12857562 IBIS 200 / 7739
3
 (HPO:0012378) Fatigue 16351644; 11431687; 12857562; 12091367 IBIS 50 / 7739
4
 (HPO:0000819) Diabetes mellitus 11518736; 18160816 IBIS 131 / 7739
5
 (HPO:0002758) Osteoarthritis 11431687 IBIS 78 / 7739
6
 (HPO:0001369) Arthritis 19937651 IBIS 44 / 7739
7
 (HPO:0003040) Arthropathy 21199650 IBIS 19 / 7739
8
 (HPO:0002829) Arthralgia Occasional[IBIS] Very frequent [Orphanet] 11431687; 21199650 IBIS 79 / 7739
9
 (HPO:0002910) Elevated hepatic transaminases 20230395 IBIS 158 / 7739
10
 (HPO:0002014) Diarrhea 12857562 IBIS 225 / 7739
11
 (HPO:0001397) Hepatic steatosis Frequent [Orphanet] 18160816; 20230395 IBIS 75 / 7739
12
 (HPO:0002240) Hepatomegaly 21199650 IBIS 467 / 7739
13
 (HPO:0001395) Hepatic fibrosis 11518736; 18160816 IBIS 67 / 7739
14
 (HPO:0000953) Hyperpigmentation of the skin Very frequent [Orphanet] hallmark [HPO] 10471458; 21199650 IBIS 75 / 7739
15
 (HPO:0001638) Cardiomyopathy 11431687 IBIS 192 / 7739
16
 (HPO:0011675) Arrhythmia 11518736 IBIS 226 / 7739
17
 (HPO:0001935) Microcytic anemia 14636642 IBIS 32 / 7739
18
 (HPO:0001903) Anemia 12123233 IBIS 289 / 7739
19
 (HPO:0012465) Elevated hepatic iron concentration 16351644; 10471458; 18160816; 16258219; 20230395 IBIS 8 / 7739
20
 (HPO:0003281) Increased serum ferritin Very frequent [IBIS] Very frequent [Orphanet] 16351644; 10471458; 11431687; 18160816; 16258219; 20230395; 19937651; 12857562; 12123233; 12091367; 14636642 IBIS 32 / 7739
21
 (HPO:0001952) Abnormal glucose tolerance 10471458 IBIS 9 / 7739
22
 (HPO:0011031) Abnormality of iron homeostasis Very frequent [IBIS] Very frequent [Orphanet] 16351644 IBIS 16 / 7739
23
 (HPO:0012464) Decreased transferrin saturation 12123233 IBIS 1 / 7739
24
 (HPO:0012463) Elevated transferrin saturation 10471458; 11431687; 12857562 IBIS 10 / 7739
25
 (HPO:0001324) Muscle weakness 21199650 IBIS 859 / 7739
26
 (OMIM) Normal transferrin saturation 20230395; 19937651; 16258219 IBIS 2 / 7739
27
 (OMIM) Decreased serum iron 12123233 IBIS 3 / 7739

Associated genes:

SLC40A1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pietrangelo et al. (1999) described an Italian family with an autosomal dominant form of hemochromatosis not associated with mutations in the HFE gene (613609) and not linked to 6p. Fifteen members of this pedigree suffered from iron overload ...
Molecular genetics OMIM Njajou et al. (2001) detected a missense mutation in the SLC40A1 gene (604653.0001) in a large Dutch family with autosomal dominant hemochromatosis.

Montosi et al. (2001) identified a missense mutation (604653.0002) in the SLC40A1 gene in ...