Stomatin-deficient cryohydrocytosis with neurologic defects

Preferred Label : Stomatin-deficient cryohydrocytosis with neurologic defects;

Symbol : SDCHCN;

CISMeF acronym : SDCHCN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glut1 deficiency syndrome with pseudohyperkalemia and hemolysis; Cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (SLC2A1, 138140.0023);

Laboratory abnormalities : Increased serum bilirubin; In vitro hyperkalemia (pseudohyperkalemia) due to rupture of erythrocyte membranes;

Prefixed ID : #608885;

Details

Origin ID

608885;

UMLS CUI

C1837206;

Automatic exact mappings (from CISMeF team)
- cryohydrocytosis, Stomatin-Deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly [MeSH Supplementary Concept]
- cryohydrocytosis, Stomatin-Deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly [MeSH concept]
Currated CISMeF NLP mapping
- Hereditary cryohydrocytosis with reduced stomatin [ICD-11 More detail]
- Hereditary cryohydrocytosis with reduced stomatin [ORDO Disease]
- Hereditary cryohydrocytosis with reduced stomatin (disorder) [SNOMED CT concept]
Genes related to phenotype
- Solute carrier family 2 (facilitated glucose transporter), member 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Delayed myelination [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hemolytic anemia [HPO term]
- Hepatomegaly [HPO term]
- Hyperkalemia [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypoglycorrhachia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Jaundice [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Hereditary cryohydrocytosis with reduced stomatin [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary cryohydrocytosis with reduced stomatin [ORDO Disease]
- Hereditary cryohydrocytosis with reduced stomatin [ICD-11 More detail]
- cryohydrocytosis, Stomatin-Deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly [MeSH Supplementary Concept]
- cryohydrocytosis, Stomatin-Deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary cryohydrocytosis [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients