Partington syndrome

Preferred Label : Partington syndrome;

Symbol : PRTS;

CISMeF acronym : MRXS1; MRX36; PRTS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 36; MRXS1; Mental retardation, X-linked, with dystonic movements, ataxia, and seizures; MRX36; Mental retardation, X-linked, syndromic 1; Partington X-linked mental retardation syndrome; Intellectual developmental disorder, X-linked, syndromic 1;

Description : Partington syndrome is an X-linked developmental disorder characterized by mental retardation and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to nonsyndromic mental retardation (300419). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the X-linked aristaless-related homeobox gene (ARX, 300382.0002).;

Prefixed ID : #309510;

Details

Origin ID

309510;

UMLS CUI

C0796250;

Automatic exact mappings (from CISMeF team)
- ARX wt Allele [NCIt concept]
- Partington syndrome [DO Concept]
- Portugal [NCIt concept]
- X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) [SNOMED CT concept]
- anthranilate phosphoribosyltransferase activity [GO term]
- symbol withdrawn PRTS [HGNC gene]
Currated CISMeF NLP mapping
- Partington X-linked mental retardation syndrome [MeSH concept]
- Partington syndrome [ORDO Disease]
- partington X-linked mental retardation syndrome [MeSH Supplementary Concept]
DO Cross reference
- Partington syndrome [DO Concept]
Genes related to phenotype
- Aristaless-related homeobox, X-linked [OMIM gene]
HPO term(s)
- Behavioral abnormality [HPO term]
- Camptodactyly [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- EEG abnormality [HPO term]
- Flexion contracture [HPO term]
- Focal dystonia [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability [HPO term]
- Limb dystonia [HPO term]
- Lower limb spasticity [HPO term]
- Seizure [HPO term]
- Speech delay [HPO term]
- Triangular face [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Partington syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Partington X-linked mental retardation syndrome [MeSH concept]
- Partington syndrome [ORDO Disease]
- X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) [SNOMED CT concept]
- partington X-linked mental retardation syndrome [MeSH Supplementary Concept]

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