LIWAS
MCID: LNG113
MIFTS: 18

Liang-Wang Syndrome (LIWAS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Liang-Wang Syndrome

MalaCards integrated aliases for Liang-Wang Syndrome:

Name: Liang-Wang Syndrome 56 6
Liwas 56

Characteristics:

OMIM:

56
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)


Classifications:



External Ids:

OMIM 56 618729

Summaries for Liang-Wang Syndrome

OMIM : 56 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)

MalaCards based summary : Liang-Wang Syndrome, also known as liwas, is related to malaria. 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.

Related Diseases for Liang-Wang Syndrome

Diseases related to Liang-Wang Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 malaria 10.3

Symptoms & Phenotypes for Liang-Wang Syndrome

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
downslanting palpebral fissures

Head And Neck Face:
coarse facial features
craniofacial dysmorphism, severe (phenotypic group a)

Cardiovascular Vascular:
aortic aneurysm
vascular ectasia
vascular tortuosity, intracranial and aortic (group a)

Muscle Soft Tissue:
axial hypotonia

Head And Neck Ears:
sensorineural deafness (1 patient)

Abdomen Gastrointestinal:
pseudoobstruction (group a)
intestinal atresia (group a)
intestinal dilatation (group a)
malrotation (group a)

Skeletal:
increased bone density (group a)
dysplastic bones, axial and appendicular (group a)
sclerosing dysplasia (group a)

Skin Nails Hair Skin:
hemangioma (group a)

Neurologic Central Nervous System:
ataxia
tremor
speech apraxia
cerebellar atrophy
cerebral atrophy
more
Head And Neck Mouth:
wide mouth
thin upper lip
downturned corners of the mouth
gingival hyperplasia
thick everted lower lip
more
Head And Neck Nose:
broad nasal root

Neurologic Behavioral Psychiatric Manifestations:
autistic features (1 patient)

Chest Ribs Sternum Clavicles And Scapulae:
enlarged ribs (group a)

Genitourinary Bladder:
enlarged bladder (group a)

Skeletal Skull:
thickened skull base (group a)

Skin Nails Hair Hair:
hirsutism (group a)

Clinical features from OMIM:

618729

Drugs & Therapeutics for Liang-Wang Syndrome

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

Genetic Tests for Liang-Wang Syndrome

Anatomical Context for Liang-Wang Syndrome

MalaCards organs/tissues related to Liang-Wang Syndrome:

40
Bone, Brain, Tongue

Publications for Liang-Wang Syndrome

Articles related to Liang-Wang Syndrome:

# Title Authors PMID Year
1
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. 56 6
31152168 2019
2
Cerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiency. 56
15194823 2004
3
Ticks (Ixodoidea) of domestic animals in Iraq. 5. Infestations in the Liwas of Diwaniya and Nasiriya (spring), Karbala (winter), and Hilla (autumn and winter). 61
5807852 1969
4
Ticks (Ixodoidea) of domestic animals in Iraq. 3. Autumn infestations in the Liwas of Kut, Amara and Basra; winter and summer infestations in the Liwa of Baghdad. 61
5690608 1968
5
Ticks (Ixodoidea) of domestic animals in Iraq. 2. Summer infestations in the Liwas of Hilla, Karbala, Diwaniya and Nasiriya. 61
5642174 1968
6
Ticks (Ixodoidea) of domestic animals in Iraq. Spring and early summer infestations in the Liwas of Baghdad, Kut, Amara, and Basra. 61
6069350 1967

Variations for Liang-Wang Syndrome

ClinVar genetic disease variations for Liang-Wang Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNMA1 KCNMA1, SER351TYRundetermined variant Pathogenic 804292
2 KCNMA1 KCNMA1, GLY356ARGundetermined variant Pathogenic 804293
3 KCNMA1 KCNMA1, ILE663VALundetermined variant Pathogenic 804294
4 KCNMA1 KCNMA1, ASP984ASNundetermined variant Pathogenic 804295
5 KCNMA1 NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg)SNV Uncertain significance 521128 rs1554829003 10:78869939-78869939 10:77110181-77110181

Expression for Liang-Wang Syndrome

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

Pathways for Liang-Wang Syndrome

GO Terms for Liang-Wang Syndrome

Sources for Liang-Wang Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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