LIWAS
MCID: LNG113
MIFTS: 25

Liang-Wang Syndrome (LIWAS)

Categories: Bone diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Liang-Wang Syndrome

MalaCards integrated aliases for Liang-Wang Syndrome:

Name: Liang-Wang Syndrome 57 73 29 6
Liwas 57 73

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:



Summaries for Liang-Wang Syndrome

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.

Related Diseases for Liang-Wang Syndrome

Symptoms & Phenotypes for Liang-Wang Syndrome

Human phenotypes related to Liang-Wang Syndrome:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 ataxia 31 very rare (1%) HP:0001251
3 macroglossia 31 very rare (1%) HP:0000158
4 gingival overgrowth 31 very rare (1%) HP:0000212
5 hypertelorism 31 very rare (1%) HP:0000316
6 wide nasal bridge 31 very rare (1%) HP:0000431
7 delayed speech and language development 31 very rare (1%) HP:0000750
8 everted lower lip vermilion 31 very rare (1%) HP:0000232
9 strabismus 31 very rare (1%) HP:0000486
10 wide mouth 31 very rare (1%) HP:0000154
11 downslanted palpebral fissures 31 very rare (1%) HP:0000494
12 downturned corners of mouth 31 very rare (1%) HP:0002714
13 laryngomalacia 31 very rare (1%) HP:0001601
14 thin upper lip vermilion 31 very rare (1%) HP:0000219
15 megalocornea 31 very rare (1%) HP:0000485
16 dystonia 31 very rare (1%) HP:0001332
17 synophrys 31 very rare (1%) HP:0000664
18 cerebellar atrophy 31 very rare (1%) HP:0001272
19 status epilepticus 31 very rare (1%) HP:0002133
20 cerebral atrophy 31 very rare (1%) HP:0002059
21 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
22 diastema 31 very rare (1%) HP:0000699
23 macrodontia of permanent maxillary central incisor 31 very rare (1%) HP:0000675
24 generalized non-motor (absence) seizure 31 very rare (1%) HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus
hypertelorism
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
cerebellar atrophy
cerebral atrophy
speech apraxia
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Liang-Wang Syndrome

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

Genetic Tests for Liang-Wang Syndrome

Genetic tests related to Liang-Wang Syndrome:

# Genetic test Affiliating Genes
1 Liang-Wang Syndrome 29 KCNMA1

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. 6 57
31152168 2019
2
Cerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiency. 57
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 NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg) SNV Pathogenic 521128 rs1554829003 10:78869939-78869939 10:77110181-77110181
2 KCNMA1 KCNMA1, SER351TYR Variation Pathogenic 804292
3 KCNMA1 G356R Variation Pathogenic 804293
4 KCNMA1 I663V Variation Pathogenic 804294
5 KCNMA1 D984N Variation Pathogenic 804295

UniProtKB/Swiss-Prot genetic disease variations for Liang-Wang Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 KCNMA1 p.Gly375Arg VAR_083554 rs155482900

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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