Arts syndrome - CISMeF

Preferred Label : Arts syndrome;

Symbol : ARTS;

CISMeF acronym : MRXSARTS; ARTS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic, arts type; Mental retardation, X-linked, syndromic 18; MRXSARTS; MRXS18; Ataxia, fatal X-linked, with deafness and loss of vision;

Description : Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy (de Brouwer et al., 2007). Susceptibility to infections, especially of the upper respiratory tract, can result in early death.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the phosphoribosylpyrophosphate synthetase 1 gene (PRPS1, 311850.0011);

Laboratory abnormalities : Reduced serum uric acid; Undetectable urinary hypoxanthine; Decreased PRPP synthetase activity in erythrocytes and fibroblasts;

Prefixed ID : #301835;

Détails

Origin ID

301835;

UMLS CUI

C0796028;

Automatic exact mappings (from CISMeF team)
- Antiretroviral therapy [LOINC Class]
- SEPTIN4 wt Allele [NCIt concept]
- Septin-4 [NCIt concept]
- art [MeSH Descriptor]
- art [MeSH concept]
- septin 4 [HGNC gene]
Currated CISMeF NLP mapping
- Arts syndrome [DO Concept]
- Arts syndrome [Disease (Nov.)]
- Arts syndrome [MeSH concept]
- Fatal X-linked ataxia with deafness and loss of vision (disorder) [SNOMED CT concept]
- Lethal ataxia with deafness and optic atrophy [ICD-11 More detail]
- Lethal ataxia with deafness and optic atrophy [ORDO Disease]
- arts syndrome [MeSH Supplementary Concept]
DO Cross reference
- Arts syndrome [DO Concept]
Genes related to phenotype
- Phosphoribosylpyrophosphate synthetase I [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Deafness [HPO term]
- Death in early childhood [HPO term]
- Death in infancy [HPO term]
- Drooling [HPO term]
- Dysphagia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hyperreflexia [HPO term]
- Immunodeficiency [HPO term]
- Intellectual disability [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive muscle weakness [HPO term]
- Recurrent infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Seizure [HPO term]
- Spinal cord posterior columns myelin loss [HPO term]
- Tetraplegia [HPO term]
- Visual loss [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Lethal ataxia with deafness and optic atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arts syndrome [MeSH concept]
- Arts syndrome [DO Concept]
- Arts syndrome [Disease (Nov.)]
- Fatal X-linked ataxia with deafness and loss of vision (disorder) [SNOMED CT concept]
- Lethal ataxia with deafness and optic atrophy [ORDO Disease]
- Lethal ataxia with deafness and optic atrophy [ICD-11 More detail]
- arts syndrome [MeSH Supplementary Concept]

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