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 56 73 6 17
Shuver 56 73

Characteristics:

OMIM:

56
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 : 56 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, and related phenotypes are seizures and generalized hypotonia

UniProtKB/Swiss-Prot : 73 Shukla-Vernon syndrome: A 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 seizures 31 very rare (1%) HP:0001250
2 generalized hypotonia 31 very rare (1%) HP:0001290
3 cerebellar atrophy 31 very rare (1%) HP:0001272
4 broad-based gait 31 very rare (1%) HP:0002136
5 hypertelorism 31 HP:0000316
6 coarse facial features 31 HP:0000280
7 global developmental delay 31 HP:0001263
8 delayed speech and language development 31 HP:0000750
9 downslanted palpebral fissures 31 HP:0000494
10 stereotypy 31 HP:0000733
11 attention deficit hyperactivity disorder 31 HP:0007018
12 high forehead 31 HP:0000348
13 long face 31 HP:0000276
14 autistic behavior 31 HP:0000729
15 drooling 31 HP:0002307
16 tapered finger 31 HP:0001182
17 sparse hair 31 HP:0008070
18 wide nasal base 31 HP:0012810
19 exotropia 31 HP:0000577

Symptoms via clinical synopsis from OMIM:

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

Head And Neck Mouth:
drooling
thick vermilion

Skeletal Hands:
long fingers
tapering fingers

Neurologic Central Nervous System:
seizures (in some patients)
speech delay
learning difficulties
cerebellar atrophy (in some patients)
wide-based gait (in some patients)
more
Head And Neck Nose:
broad nasal base

Growth Other:
poor overall growth (1 family)

Head And Neck Face:
coarse facial features
long face
tall forehead
dysmorphic features, variable

Skin Nails Hair Hair:
sparse hair

Head And Neck Ears:
dysmorphic ears

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

Muscle Soft Tissue:
hypotonia (in some patients)

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:

40
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. 56 6
30941876 2019
2
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 56
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.95C>T (p.Pro32Leu)SNV Pathogenic 638170 X:129146562-129146562 X:130012586-130012586
3 BCORL1 NM_021946.4(BCORL1):c.2345T>A (p.Val782Glu)SNV Pathogenic 638168 X:129149093-129149093 X:130015117-130015117
4 BCORL1 NM_021946.4(BCORL1):c.1487C>T (p.Ser496Phe)SNV Uncertain significance 383470 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 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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