LISX2
MCID: LSS037
MIFTS: 35
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Lissencephaly, X-Linked, 2 (LISX2)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Lissencephaly, X-Linked, 2:
Name: Lissencephaly, X-Linked, 2
56
71
Characteristics:Orphanet epidemiological data:58
x-linked lissencephaly with abnormal genitalia
Inheritance: X-linked recessive; Age of onset: Neonatal; Age of death: early childhood; OMIM:56
Inheritance:
x-linked
Miscellaneous:
early death in males some female carriers are more mildly affected HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Endocrine diseases Reproductive diseases Mental diseases
ICD10:
33
Orphanet: 58
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OMIM :
56
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). (300215)
MalaCards based summary : Lissencephaly, X-Linked, 2, also known as hydranencephaly with abnormal genitalia, is related to x-linked lissencephaly with abnormal genitalia and lissencephaly, and has symptoms including snoring and thick skin. An important gene associated with Lissencephaly, X-Linked, 2 is ARX (Aristaless Related Homeobox). Affiliated tissues include brain, testes and cortex, and related phenotypes are muscular hypotonia and spasticity UniProtKB/Swiss-Prot : 73 Lissencephaly, X-linked 2: A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia. |
Human phenotypes related to Lissencephaly, X-Linked, 2:58 31 (show all 42)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:300215UMLS symptoms related to Lissencephaly, X-Linked, 2:snoring, thick skin |
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MalaCards organs/tissues related to Lissencephaly, X-Linked, 2:40
Brain,
Testes,
Cortex,
Skin
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Articles related to Lissencephaly, X-Linked, 2:
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ClinVar genetic disease variations for Lissencephaly, X-Linked, 2:6 (show all 35)
UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly, X-Linked, 2:73
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Search
GEO
for disease gene expression data for Lissencephaly, X-Linked, 2.
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