SHUVER
MCID: SHK002
MIFTS: 20

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 12 73 6 17
Shuver 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
onset in infancy
variable severity
carrier females may have mild manifestations

Inheritance:
x-linked recessive


HPO:

31
shukla-vernon syndrome:
Onset and clinical course variable expressivity infantile onset
Inheritance x-linked recessive inheritance


Classifications:



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) (Updated 05-Mar-2021)

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). Related phenotypes are broad-based gait and cerebellar atrophy

Disease Ontology : 12 A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has material basis in hemizygous mutation in BCORL1 on chromosome Xq26.1.

UniProtKB/Swiss-Prot : 73 Shukla-Vernon syndrome: An X-linked neurodevelopmental disorder manifesting in affected males with intellectual and learning disability, motor and language delay, autism spectrum disorder, attention deficit and hyperactivity disorder, and dysmorphic features. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier females may have mild disease manifestations.

Related Diseases for Shukla-Vernon Syndrome

Symptoms & Phenotypes for Shukla-Vernon Syndrome

Human phenotypes related to Shukla-Vernon Syndrome:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 broad-based gait 31 very rare (1%) HP:0002136
2 cerebellar atrophy 31 very rare (1%) HP:0001272
3 generalized hypotonia 31 very rare (1%) HP:0001290
4 seizure 31 very rare (1%) HP:0001250
5 coarse facial features 31 HP:0000280
6 global developmental delay 31 HP:0001263
7 hypertelorism 31 HP:0000316
8 delayed speech and language development 31 HP:0000750
9 stereotypy 31 HP:0000733
10 attention deficit hyperactivity disorder 31 HP:0007018
11 downslanted palpebral fissures 31 HP:0000494
12 long face 31 HP:0000276
13 high forehead 31 HP:0000348
14 tapered finger 31 HP:0001182
15 sparse hair 31 HP:0008070
16 autistic behavior 31 HP:0000729
17 exotropia 31 HP:0000577
18 drooling 31 HP:0002307
19 wide nasal base 31 HP:0012810

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Face:
coarse facial features
long face
tall forehead
dysmorphic features, variable

Skin Nails Hair Hair:
sparse hair

Head And Neck Mouth:
drooling
thick vermilion

Neurologic Central Nervous System:
seizures (in some patients)
speech delay
learning difficulties
cerebellar atrophy (in some patients)
global developmental delay, variable severity
more
Head And Neck Nose:
broad nasal base

Growth Other:
poor overall growth (1 family)

Head And Neck Eyes:
hypertelorism
strabismus
exotropia
downslanting palpebral fissures

Skeletal Hands:
long fingers
tapering fingers

Head And Neck Ears:
dysmorphic ears

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

Muscle Soft Tissue:
hypotonia (in some patients)

Clinical features from OMIM®:

301029 (Updated 05-Mar-2021)

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

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. 57 6
30941876 2019
2
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 57
24123876 2013

Variations for Shukla-Vernon Syndrome

ClinVar genetic disease variations for Shukla-Vernon Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BCORL1 NM_021946.4(BCORL1):c.2459A>G (p.Asn820Ser) SNV Pathogenic 92122 rs398123004 X:129149207-129149207 X:130015231-130015231
2 BCORL1 NM_021946.4(BCORL1):c.2345T>A (p.Val782Glu) SNV Pathogenic 638168 rs1488781894 X:129149093-129149093 X:130015117-130015117
3 BCORL1 NM_021946.4(BCORL1):c.1487C>T (p.Ser496Phe) SNV Pathogenic 383470 rs1057521638 X:129148235-129148235 X:130014259-130014259
4 BCORL1 NM_021946.4(BCORL1):c.95C>T (p.Pro32Leu) SNV Pathogenic 638170 rs1603105985 X:129146562-129146562 X:130012586-130012586
5 BCORL1 NM_001379451.1(BCORL1):c.4054G>C (p.Glu1352Gln) SNV Uncertain significance 917532 X:129159330-129159330 X:130025355-130025355

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
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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