SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 109270
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000952) Jaundice 105 / 7739
2
(HPO:0001744) Splenomegaly 337 / 7739
3
(HPO:0005502) Increased red cell osmotic fragility 5 / 7739
4
(HPO:0004445) Elliptocytosis 15 / 7739
5
(HPO:0004446) Stomatocytosis 11 / 7739
6
(HPO:0001923) Reticulocytosis 28 / 7739
7
(HPO:0001927) Acanthocytosis 11 / 7739
8
(HPO:0002904) Hyperbilirubinemia 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: