Intellectual developmental disorder, X-linked 21

Preferred Label : Intellectual developmental disorder, X-linked 21;

Symbol : XLID21;

CISMeF acronym : MRX21; MRX34;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRX34; Mental retardation, X-linked 34; MRX21; Mental retardation, X-linked 21;

Description : This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the IL1 receptor accessory protein-like 1 gene (IL1RAPL, 300206.0001);

Prefixed ID : #300143;

Détails

Origin ID

300143;

UMLS CUI

C5551510;

Automatic exact mappings (from CISMeF team)
- IL1RAPL1 wt Allele [NCIt concept]
- X-linked non-syndromic intellectual disability [ORDO Disease]
- mental retardation, X-Linked 34 [MeSH concept]
- mental retardation, X-Linked 34 [MeSH Supplementary Concept]
- symbol withdrawn MRX21 [HGNC gene]
Currated CISMeF NLP mapping
- Mental Retardation, X-linked 21/34 [NCIt concept]
- atkin syndrome [MeSH Supplementary Concept]
- non-syndromic X-linked intellectual disability 21 [DO Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 21 [DO Concept]
Genes related to phenotype
- Interleukin 1 receptor accessory protein-like 1 [OMIM gene]
HPO term(s)
- Autism [HPO term]
- Dental crowding [HPO term]
- Hyperactivity [HPO term]
- Hypertelorism [HPO term]
- Impulsivity [HPO term]
- Intellectual disability, moderate [HPO term]
- Joint hypermobility [HPO term]
- Macroorchidism [HPO term]
- Mandibular prognathia [HPO term]
- Nasal speech [HPO term]
- Open mouth [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Tented upper lip vermilion [HPO term]
- Uplifted earlobe [HPO term]
- Upslanted palpebral fissure [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atkin syndrome [MeSH concept]
- Atkin-Flaitz syndrome [ORDO Disease]
- X-linked intellectual disability Atkin type (disorder) [SNOMED CT concept]
- atkin syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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