Spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia

Preferred Label : Spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia;

Symbol : SCAX6;

CISMeF acronym : ASAT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ASAT; Anemia, sideroblastic, and spinocerebellar ataxia;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in the ATP-binding cassette, subfamily B, member 7 gene (ABCB7, 300135.0001).;

Laboratory abnormalities : Increased free erythrocyte protoporphyrin; Lack of excessive parenchymal iron storage;

Prefixed ID : #301310;

Détails

Origin ID

301310;

UMLS CUI

C1845028;

Automatic exact mappings (from CISMeF team)
- ASAT [MedDRA LLT]
- ATP binding cassette subfamily B member 7 [ORDO Gene]
- ATP binding cassette subfamily B member 7 [HGNC gene]
- Aspartate Aminotransferase [NCIt concept]
- Aspartate aminotransferase [LOINC component]
- Aspartate aminotransferase measurement (procedure) [SNOMED CT concept]
- aspartate aminotransferase [COVID-19 Thesaurus concept]
- aspartate aminotransferases [MeSH Descriptor]
- transaminase [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Anemia, sideroblastic spinocerebellar ataxia [MeSH concept]
- X-linked sideroblastic anemia and spinocerebellar ataxia [ORDO Disease]
- X-linked sideroblastic anemia with ataxia [DO Concept]
- anemia, sideroblastic spinocerebellar ataxia [MeSH Supplementary Concept]
- sideroblastic anemia with spinocerebellar ataxia [DO Concept]
DO Cross reference
- X-linked sideroblastic anemia with ataxia [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily b, member 7 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Babinski sign [HPO term]
- Clonus [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Hyperreflexia [HPO term]
- Hypochromic microcytic anemia [HPO term]
- Intention tremor [HPO term]
- Juvenile onset [HPO term]
- Nonprogressive cerebellar ataxia [HPO term]
- Sideroblastic anemia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked sideroblastic anemia and spinocerebellar ataxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, sideroblastic spinocerebellar ataxia [MeSH concept]
- X-linked sideroblastic anemia and spinocerebellar ataxia [ORDO Disease]
- X-linked sideroblastic anemia with ataxia [DO Concept]
- X-linked sideroblastic anemia with spinocerebellar ataxia (disorder) [SNOMED CT concept]
- anemia, sideroblastic spinocerebellar ataxia [MeSH Supplementary Concept]
- sideroblastic anemia with spinocerebellar ataxia [DO Concept]

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