WSKA
MCID: WSS006
MIFTS: 25

Weiss-Kruszka Syndrome (WSKA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Weiss-Kruszka Syndrome

MalaCards integrated aliases for Weiss-Kruszka Syndrome:

Name: Weiss-Kruszka Syndrome 56 24 73 6 17
Wska 56 73
Znf462 Disorder 24

Characteristics:

OMIM:

56
Miscellaneous:
variable expressivity
onset in infancy
de novo mutation (in most patients)

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 56 618619
MeSH 43 D000015
MedGen 41 CN262386

Summaries for Weiss-Kruszka Syndrome

OMIM : 56 Weiss-Kruszka syndrome (WSKA) is an autosomal dominant multiple congenital anomaly syndrome characterized by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose. Many patients have hypotonia and feeding difficulties. A few patients show agenesis of the corpus callosum on brain imaging. Most cases occur sporadically, but there are rare familial cases that show highly variable expressivity in the phenotypic manifestations (summary by Kruszka et al., 2019). (618619)

MalaCards based summary : Weiss-Kruszka Syndrome, also known as wska, is related to ptosis and synostosis. An important gene associated with Weiss-Kruszka Syndrome is ZNF462 (Zinc Finger Protein 462). Affiliated tissues include brain, heart and cortex.

UniProtKB/Swiss-Prot : 73 Weiss-Kruszka syndrome: An autosomal dominant, multiple congenital anomaly syndrome with variable expressivity and complete penetrance. Patients manifest developmental delay, hypotonia, feeding difficulties, craniofacial abnormalities including ptosis, abnormal head shape, downslanting palpebral fissures, metopic ridging, and craniosynostosis. Variable congenital heart defects can be observed in some patients. A few patients show agenesis of the corpus callosum on brain imaging.

GeneReviews: NBK549204

Related Diseases for Weiss-Kruszka Syndrome

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

# Related Disease Score Top Affiliating Genes
1 ptosis 10.6
2 synostosis 10.4
3 craniosynostosis 10.4
4 dysphagia 10.4
5 hypotonia 10.4

Graphical network of the top 20 diseases related to Weiss-Kruszka Syndrome:



Diseases related to Weiss-Kruszka Syndrome

Symptoms & Phenotypes for Weiss-Kruszka Syndrome

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures
epicanthal folds
arched eyebrows

Head And Neck Face:
retrognathia
small mandible
dysmorphic facial features, variable
wide philtrum

Head And Neck Head:
dolichocephaly
plagiocephaly
abnormal head shape (in some patients)
pointed head

Skeletal Hands:
fifth finger clinodactyly

Neurologic Central Nervous System:
speech delay
agenesis of the corpus callosum (in some patients)
global developmental delay, mild
impaired intellectual development, mild
special schooling

Skeletal Skull:
craniosynostosis (in some patients)
metopic ridging (in some patients)

Cardiovascular Heart:
congenital heart defects, variable (in some patients)

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Ears:
low-set ears
hearing loss (in some patients)
abnormal ears

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
high-arched palate
cupid bow

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
attention deficit-hyperactivity disorder

Head And Neck Nose:
bulbous nasal tip
short upturned nose

Clinical features from OMIM:

618619

Drugs & Therapeutics for Weiss-Kruszka Syndrome

Search Clinical Trials , NIH Clinical Center for Weiss-Kruszka Syndrome

Genetic Tests for Weiss-Kruszka Syndrome

Anatomical Context for Weiss-Kruszka Syndrome

MalaCards organs/tissues related to Weiss-Kruszka Syndrome:

40
Brain, Heart, Cortex

Publications for Weiss-Kruszka Syndrome

Articles related to Weiss-Kruszka Syndrome:

(show all 12)
# Title Authors PMID Year
1
Phenotype delineation of ZNF462 related syndrome. 56 6 24
31361404 2019
2
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. 56 24 6
28513610 2017
3
Weiss-Kruszka Syndrome 61 6
31670927 2019
4
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 24
29469822 2018
5
ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. 24
29427787 2018
6
A map of general and specialized chromatin readers in mouse tissues generated by label-free interaction proteomics. 24
23201125 2013
7
Involvement of ZFPIP/Zfp462 in chromatin integrity and survival of P19 pluripotent cells. 24
20219459 2010
8
ZFPIP/Zfp462 is maternally required for proper early Xenopus laevis development. 24
19111535 2009
9
Graded expression of Zfp462 in the embryonic mouse cerebral cortex. 24
17207666 2007
10
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. 24
12825074 2003
11
Temtamy-like syndrome associated with translocation of 2p24 and 9q32. 24
14564155 2003
12
A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report. 61
32543299 2020

Variations for Weiss-Kruszka Syndrome

ClinVar genetic disease variations for Weiss-Kruszka Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF462 NM_021224.6(ZNF462):c.3787C>T (p.Arg1263Ter)SNV Pathogenic 402116 rs1060499549 9:109689980-109689980 9:106927699-106927699
2 ZNF462 NM_021224.6(ZNF462):c.2979_2980delinsA (p.Val994fs)indel Pathogenic 402118 rs1060499550 9:109689172-109689173 9:106926891-106926892
3 ZNF462 NM_021224.6(ZNF462):c.5145del (p.Tyr1716fs)deletion Pathogenic 691878 9:109691338-109691338 9:106929057-106929057
4 ZNF462 NM_021224.6(ZNF462):c.2542del (p.Cys848fs)deletion Pathogenic 691879 9:109688735-109688735 9:106926454-106926454
5 ZNF462 NM_021224.6(ZNF462):c.763C>T (p.Arg255Ter)SNV Pathogenic 691880 9:109686956-109686956 9:106924675-106924675
6 ZNF462 NM_021224.6(ZNF462):c.882dup (p.Ser295fs)duplication Pathogenic 691881 9:109687070-109687071 9:106924789-106924790
7 ZNF462 NM_021224.6(ZNF462):c.4165C>T (p.Gln1389Ter)SNV Pathogenic 691882 9:109690358-109690358 9:106928077-106928077
8 ZNF462 NM_021224.6(ZNF462):c.1552del (p.Val518fs)deletion Pathogenic 801363 9:109687744-109687744 9:106925463-106925463
9 ZNF462 NM_021224.6(ZNF462):c.6671_6672insG (p.Asp2224fs)insertion Likely pathogenic 828154 9:109734529-109734530 9:106972248-106972249
10 ZNF462 NM_021224.6(ZNF462):c.7190A>G (p.Glu2397Gly)SNV Uncertain significance 801364 9:109771826-109771826 9:107009545-107009545

Expression for Weiss-Kruszka Syndrome

Search GEO for disease gene expression data for Weiss-Kruszka Syndrome.

Pathways for Weiss-Kruszka Syndrome

GO Terms for Weiss-Kruszka Syndrome

Sources for Weiss-Kruszka Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
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53 NINDS
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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