SHUVER
MCID: SHK002
MIFTS: 11

Shukla-Vernon Syndrome (SHUVER)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Shukla-Vernon Syndrome

MalaCards integrated aliases for Shukla-Vernon Syndrome:

Name: Shukla-Vernon Syndrome 57 6
Shuver 57

Classifications:



External Ids:

OMIM 57 301029

Summaries for Shukla-Vernon Syndrome

OMIM : 57 Shukla-Vernon syndrome (SHUVER) is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development, and behavioral abnormalities, including autism spectrum disorder and ADHD. Dysmorphic features are common and may include tall forehead, downslanting palpebral fissures, and tapering fingers. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier mothers may have mild manifestations, including learning disabilities (summary by Shukla et al., 2019). (301029)

MalaCards based summary : Shukla-Vernon Syndrome, is also known as shuver. An important gene associated with Shukla-Vernon Syndrome is BCORL1 (BCL6 Corepressor Like 1). Affiliated tissues include brain.

Related Diseases for Shukla-Vernon Syndrome

Symptoms & Phenotypes for Shukla-Vernon Syndrome

Clinical features from OMIM:

301029

Drugs & Therapeutics for Shukla-Vernon Syndrome

Search Clinical Trials , NIH Clinical Center for Shukla-Vernon Syndrome

Genetic Tests for Shukla-Vernon Syndrome

Anatomical Context for Shukla-Vernon Syndrome

MalaCards organs/tissues related to Shukla-Vernon Syndrome:

41
Brain

Publications for Shukla-Vernon Syndrome

Articles related to Shukla-Vernon Syndrome:

# Title Authors PMID Year
1
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. 8 71
30941876 2019
2
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 8
24123876 2013

Variations for Shukla-Vernon Syndrome

ClinVar genetic disease variations for Shukla-Vernon Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BCORL1 NM_021946.4(BCORL1): c.2459A> G (p.Asn820Ser) single nucleotide variant Pathogenic rs398123004 X:129149207-129149207 X:130015231-130015231
2 BCORL1 NM_021946.4(BCORL1): c.2345T> A (p.Val782Glu) single nucleotide variant Pathogenic X:129149093-129149093 X:130015117-130015117
3 BCORL1 NM_021946.4(BCORL1): c.95C> T (p.Pro32Leu) single nucleotide variant Pathogenic X:129146562-129146562 X:130012586-130012586
4 BCORL1 NM_021946.4(BCORL1): c.1487C> T (p.Ser496Phe) single nucleotide variant Uncertain significance rs1057521638 X:129148235-129148235 X:130014259-130014259

Expression for Shukla-Vernon Syndrome

Search GEO for disease gene expression data for Shukla-Vernon Syndrome.

Pathways for Shukla-Vernon Syndrome

GO Terms for Shukla-Vernon Syndrome

Sources for Shukla-Vernon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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