LIWAS
MCID: LNG113
MIFTS: 25
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Liang-Wang Syndrome (LIWAS)
Categories:
Bone diseases, Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Liang-Wang Syndrome:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy highly variable phenotype de novo mutation highly variable severity patients with type a phenotype have the most severe disorder with multisystem involvement (last curated january 2020) HPO:31
liang-wang syndrome:
Inheritance autosomal dominant inheritance Onset and clinical course infantile onset Classifications: |
OMIM® :
57
Liang-Wang syndrome (LIWAS) is a polymalformation syndrome apparent from birth that shows large phenotypic variability and severity. However, all patients have some degree of neurologic dysfunction. The most severely affected individuals have severe global developmental delay with impaired intellectual development and poor or absent speech, marked craniofacial dysmorphism, and visceral and connective tissue abnormalities affecting the bones and vessels. The least severely affected individuals lack seizures, significant dysmorphism, and visceral involvement; they come to attention for neurologic signs and symptoms, including developmental delay with speech delay, strabismus, and/or ataxia. About half of patients have brain imaging anomalies, notably cerebral and cerebellar atrophy and thin corpus callosum, whereas the other half have normal brain imaging (summary by Liang et al., 2019). (618729) (Updated 05-Mar-2021)
MalaCards based summary : Liang-Wang Syndrome, is also known as liwas. An important gene associated with Liang-Wang Syndrome is KCNMA1 (Potassium Calcium-Activated Channel Subfamily M Alpha 1). Affiliated tissues include bone, brain and tongue, and related phenotypes are nystagmus and ataxia UniProtKB/Swiss-Prot : 73 Liang-Wang syndrome: An autosomal dominant syndrome characterized by a highly variable phenotype and severity. The broad spectrum of clinical features includes developmental delay, intellectual disability, ataxia, axial hypotonia, and poor or absent speech, visceral and cardiac malformations, connective tissue presentations with arterial involvement, bone dysplasia and characteristic craniofacial dysmorphism. About half of patients have cerebral and cerebellar atrophy, and thin corpus callosum. |
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Human phenotypes related to Liang-Wang Syndrome:31 (show all 24)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618729 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Liang-Wang Syndrome:40
Bone,
Brain,
Tongue
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Articles related to Liang-Wang Syndrome:
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ClinVar genetic disease variations for Liang-Wang Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Liang-Wang Syndrome:73
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Search
GEO
for disease gene expression data for Liang-Wang Syndrome.
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