Lissencephaly, X-linked, 2

Preferred Label : Lissencephaly, X-linked, 2;

Symbol : LISX2;

CISMeF acronym : LISX2; XLAG; XLISG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lissencephaly, X-linked, with ambiguous genitalia; XLAG; XLISG;

Included titles and symbols : Hydranencephaly and abnormal genitalia;

Description : X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 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 to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the X-linked aristaless-related homeobox gene (ARX, 300382.0005);

Prefixed ID : #300215;

Détails

Origin ID

300215;

UMLS CUI

C1846171;

Automatic exact mappings (from CISMeF team)
- X-linked acrogigantism [ORDO Disease]
- X-linked lissencephaly with abnormal genitalia [ORDO Disease]
- X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) [SNOMED CT concept]
- hydranencephaly and abnormal genitalia [MeSH concept]
Currated CISMeF NLP mapping
- lissencephaly, X-Linked, 2 [MeSH concept]
- lissencephaly, X-Linked, 2 [MeSH Supplementary Concept]
DO Cross reference
- lissencephaly [DO Concept]
Genes related to phenotype
- Aristaless-related homeobox, X-linked [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Ambiguous genitalia [HPO term]
- Decreased testicular size [HPO term]
- Diarrhea [HPO term]
- Duane anomaly [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Gliosis [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Lissencephaly [HPO term]
- Long philtrum [HPO term]
- Long upper lip [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Pachygyria [HPO term]
- Profound global developmental delay [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nasal root [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Spasticity [HPO term]
- Specific learning disability [HPO term]
- Thin upper lip vermilion [HPO term]
- Ventriculomegaly [HPO term]
- Wide anterior fontanel [HPO term]
- Wide nasal bridge [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked lissencephaly with abnormal genitalia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked lissencephaly with abnormal genitalia [ORDO Disease]
- X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) [SNOMED CT concept]
- lissencephaly, X-Linked, 2 [MeSH Supplementary Concept]
- lissencephaly, X-Linked, 2 [MeSH concept]

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