Mast syndrome - CISMeF

Preferred Label : Mast syndrome;

Symbol : MASTS;

CISMeF acronym : SPG21;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spastic paraplegia 21, autosomal recessive; SPG21;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 33-kd acidic cluster protein gene (ACP33, 608181.0001);

Prefixed ID : #248900;

Détails

Origin ID

248900;

UMLS CUI

C1855346;

Automatic exact mappings (from CISMeF team)
- SPG21 abhydrolase domain containing, maspardin [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 21 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 21 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 21 (disorder) [SNOMED CT concept]
- MAST syndrome [MeSH concept]
- MAST syndrome [MeSH Supplementary Concept]
- Mast syndrome [DO Concept]
DO Cross reference
- Mast syndrome [DO Concept]
Genes related to phenotype
- Acidic cluster protein, 33-kd [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Adolescent onset [HPO term]
- Akinetic mutism [HPO term]
- Apraxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Dementia [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Gait disturbance [HPO term]
- Hyperreflexia [HPO term]
- Lower limb muscle weakness [HPO term]
- Motor delay [HPO term]
- Onset [HPO term]
- Peripheral neuropathy [HPO term]
- Primitive reflex [HPO term]
- Slowly progressive [HPO term]
- Spastic paraparesis [HPO term]
- Spastic paraplegia [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 21 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 21 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 21 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 21 (disorder) [SNOMED CT concept]
- MAST syndrome [MeSH Supplementary Concept]
- MAST syndrome [MeSH concept]
- Mast syndrome [DO Concept]

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