LISX2
MCID: LSS037
MIFTS: 53
|
Lissencephaly, X-Linked, 2 (LISX2)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases
|
|
|
MalaCards integrated aliases for Lissencephaly, X-Linked, 2:
Name: Lissencephaly, X-Linked, 2
57
71
Characteristics:Inheritance:
Lissencephaly, X-Linked, 2:
X-linked 57
X-Linked Lissencephaly with Abnormal Genitalia:
X-linked recessive 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
early death in males some female carriers are more mildly affected Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Endocrine diseases Reproductive diseases Mental diseases
ICD10:
32
Orphanet: 58
![]() ![]() ![]() External Ids:
|
MedlinePlus Genetics: 42 X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males.XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. Individuals without any folds in the brain (agyria) typically have more severe symptoms than people with reduced folds and grooves (pachygyria). Individuals with XLAG may also have a lack of development (agenesis) of the tissue connecting the left and right halves of the brain (corpus callosum). The brain abnormalities can cause severe intellectual disability and developmental delay, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. Starting soon after birth, babies with XLAG have frequent and recurrent seizures (epilepsy). Most children with XLAG do not survive past early childhood.Another key feature of XLAG in males is abnormal genitalia that can include an unusually small penis (micropenis), undescended testes (cryptorchidism), or external genitalia that do not look clearly male or clearly female (ambiguous genitalia).Additional signs and symptoms of XLAG include chronic diarrhea, periods of increased blood sugar (transient hyperglycemia), and problems with body temperature regulation. MalaCards based summary: Lissencephaly, X-Linked, 2, also known as x-linked lissencephaly with abnormal genitalia, is related to intellectual developmental disorder, x-linked 29 and corpus callosum, agenesis of, with abnormal genitalia, and has symptoms including snoring and thick skin. An important gene associated with Lissencephaly, X-Linked, 2 is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Signal Transduction and Activation of AMPK downstream of NMDARs. Affiliated tissues include brain, cortex and testes, and related phenotypes are intellectual disability and seizure OMIM®: 57 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 (DEE1; 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) (Updated 08-Dec-2022) GARD: 19 X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed. Orphanet: 58 X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed. UniProtKB/Swiss-Prot: 73 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. Disease Ontology: 11 A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has material basis in mutation in ARX on chromosome Xp21.3. |
Human phenotypes related to Lissencephaly, X-Linked, 2:58 30 (show all 41)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:300215 (Updated 08-Dec-2022)UMLS symptoms related to Lissencephaly, X-Linked, 2:snoring; thick skin MGI Mouse Phenotypes related to Lissencephaly, X-Linked, 2:45
|
|
Organs/tissues related to Lissencephaly, X-Linked, 2:
MalaCards :
Brain,
Cortex,
Testes,
Skin,
Globus Pallidus,
Pancreas,
Hypothalamus
|
Articles related to Lissencephaly, X-Linked, 2:(show top 50) (show all 66)
|
ClinVar genetic disease variations for Lissencephaly, X-Linked, 2:5 (show all 40)
UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly, X-Linked, 2:73
|
Search
GEO
for disease gene expression data for Lissencephaly, X-Linked, 2.
|
Biological processes related to Lissencephaly, X-Linked, 2 according to GeneCards Suite gene sharing:
|
|