Ataxia-pancytopenia syndrome

Preferred Label : Ataxia-pancytopenia syndrome;

Symbol : ATXPC;

CISMeF acronym : ATXPC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myelocerebellar disorder;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sterile alpha motif domain-containing protein 9-like gene (SAMD9L, 611170.0001);

Neoplasia : Increased risk of myeloid leukemia (in some patients);

Prefixed ID : #159550;

Détails

Origin ID

159550;

UMLS CUI

C1327919;

Automatic exact mappings (from CISMeF team)
- SAMD9L wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Ataxia pancytopenia syndrome (disorder) [SNOMED CT concept]
- Ataxia-Pancytopenia Syndrome [NCIt concept]
- Ataxia-pancytopenia syndrome [ORDO Disease]
- SAMD9L-Related Ataxia Pancytopenia Syndrome [NCIt concept]
- myelocerebellar disorder [MeSH concept]
- myelocerebellar disorder [MeSH Supplementary Concept]
Genes related to phenotype
- Sterile alpha motif domain-containing protein 9-like [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Acute myelomonocytic leukemia [HPO term]
- Anemia [HPO term]
- Ankle clonus [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Brisk deep tendon reflexes [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Hyperactive deep tendon reflexes [HPO term]
- Hypoplastic anemia [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Neutropenia [HPO term]
- Nystagmus [HPO term]
- Pancytopenia [HPO term]
- Thrombocytopenia [HPO term]
- Unsteady gait [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Ataxia-pancytopenia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia pancytopenia syndrome (disorder) [SNOMED CT concept]
- Ataxia-Pancytopenia Syndrome [NCIt concept]
- Ataxia-pancytopenia syndrome [ORDO Disease]
- SAMD9L-Related Ataxia Pancytopenia Syndrome [NCIt concept]
- myelocerebellar disorder [MeSH Supplementary Concept]
- myelocerebellar disorder [MeSH concept]

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