Liang-Wang Syndrome (LIWAS)

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OMIM® 57 618729 MeSH 44 D000015

MedGen 41 C5231479 CN263138 SNOMED-CT via HPO 68 128602000 162294008 194021007 204118005 22006008 22066006 229721007 230413002 230456007 246800008 249321001 25273001 253207002 263681008 268158009 278849000 29164008 35591002 38086007 40159009 418143002 432241000124101 441787004 441798003 50866000 52522001 54711002 563001 62415009 79631006 85102008 95646004 more

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.

Clinical features from OMIM®:

618729 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Liang-Wang Syndrome

Search GEO for disease gene expression data for Liang-Wang Syndrome.