Dehydrated hereditary stomatocytosis 2

Preferred Label : Dehydrated hereditary stomatocytosis 2;

Symbol : DHS2;

CISMeF acronym : DHS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Desiccytosis gardos; Xerocytosis gardos;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member-4 gene (KCNN4, 602754.0001);

Laboratory abnormalities : Hyperbilirubinemia;

Prefixed ID : #616689;

Détails

Origin ID

616689;

UMLS CUI

C4225242;

Automatic exact mappings (from CISMeF team)
- dehydrated hereditary stomatocytosis 2 [DO Concept]
DO Cross reference
- dehydrated hereditary stomatocytosis 2 [DO Concept]
Genes related to phenotype
- Potassium channel, calcium-activated, intermediate/small conductance, subfamily n, member 4 [OMIM gene]
HPO term(s)
- Acanthocytosis [HPO term]
- Anisopoikilocytosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bite cells [HPO term]
- Hemolytic anemia [HPO term]
- Hepatomegaly [HPO term]
- Hyperbilirubinemia [HPO term]
- Increased mean corpuscular hemoglobin concentration [HPO term]
- Increased mean corpuscular volume [HPO term]
- Jaundice [HPO term]
- Reticulocytosis [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Dehydrated hereditary stomatocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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