VIBOS
MCID: VSS003
MIFTS: 21

Vissers-Bodmer Syndrome (VIBOS)

Categories: Genetic diseases

Aliases & Classifications for Vissers-Bodmer Syndrome

MalaCards integrated aliases for Vissers-Bodmer Syndrome:

Name: Vissers-Bodmer Syndrome 57 29 6
Vibos 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype
de novo mutation (in most patients)


HPO:

31
vissers-bodmer syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Vissers-Bodmer Syndrome

OMIM® : 57 Vissers-Bodmer syndrome (VIBOS) is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy. The phenotype is highly variable: some individuals have only mild learning difficulties, whereas others have severe cognitive impairment with IQ in the 50s. Many patients have behavioral abnormalities, including autism spectrum disorder, ADD, ADHD, obsessive-compulsive disorder, and impulsivity. Other common features include growth impairment abnormalities, hypotonia, and distal skeletal defects, such as foot and hand deformities. Less common features include seizures, brain abnormalities on MRI, feeding problems, and joint hypermobility. Most individuals have dysmorphic facial features, but there is no recognizable gestalt (summary by Vissers et al., 2020). (619033) (Updated 05-Mar-2021)

MalaCards based summary : Vissers-Bodmer Syndrome, is also known as vibos. An important gene associated with Vissers-Bodmer Syndrome is CNOT1 (CCR4-NOT Transcription Complex Subunit 1). Affiliated tissues include brain, and related phenotypes are intellectual disability and sleep disturbance

Related Diseases for Vissers-Bodmer Syndrome

Symptoms & Phenotypes for Vissers-Bodmer Syndrome

Human phenotypes related to Vissers-Bodmer Syndrome:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 sleep disturbance 31 very rare (1%) HP:0002360
3 dysarthria 31 very rare (1%) HP:0001260
4 global developmental delay 31 very rare (1%) HP:0001263
5 delayed speech and language development 31 very rare (1%) HP:0000750
6 short stature 31 very rare (1%) HP:0004322
7 intrauterine growth retardation 31 very rare (1%) HP:0001511
8 motor delay 31 very rare (1%) HP:0001270
9 holoprosencephaly 31 very rare (1%) HP:0001360
10 tall stature 31 very rare (1%) HP:0000098
11 decreased body weight 31 very rare (1%) HP:0004325
12 premature birth 31 very rare (1%) HP:0001622
13 tapered finger 31 very rare (1%) HP:0001182
14 generalized hypotonia 31 very rare (1%) HP:0001290
15 decreased head circumference 31 very rare (1%) HP:0040195
16 seizure 31 very rare (1%) HP:0001250
17 abnormal facial shape 31 HP:0001999

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
vertebral abnormalities

Head And Neck Eyes:
hypertelorism
strabismus
myopia
hypermetropia
esotropia
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
impulsivity
autistic features
mood disorders
adhd
more
Skeletal Hands:
brachydactyly
clinodactyly
small hands
tapering fingers

Head And Neck Nose:
low nasal bridge

Head And Neck Ears:
large ears
dysplastic helix

Skeletal Limbs:
bowed legs

Abdomen Gastrointestinal:
feeding difficulties (in some patients)

Growth Weight:
increased or decreased weight

Skin Nails Hair Nails:
dysplastic nails (in some patients)

Neurologic Central Nervous System:
global developmental delay
motor delay
hypotonia
enlarged ventricles
seizures (in some patients)
more
Skeletal Feet:
pes planus
pes valgus

Skeletal:
joint hypermobility
skeletal abnormalities, nonspecific (in some patients)

Skeletal Pelvis:
hip dislocation

Head And Neck Mouth:
thick lips

Growth Height:
short stature (in some patients)

Skin Nails Hair Hair:
hirsutism (in some patients)

Head And Neck Head:
small head circumference (in some patients)

Head And Neck Face:
dysmorphic facial features, non-specific and variable

Clinical features from OMIM®:

619033 (Updated 05-Mar-2021)

Drugs & Therapeutics for Vissers-Bodmer Syndrome

Search Clinical Trials , NIH Clinical Center for Vissers-Bodmer Syndrome

Genetic Tests for Vissers-Bodmer Syndrome

Genetic tests related to Vissers-Bodmer Syndrome:

# Genetic test Affiliating Genes
1 Vissers-Bodmer Syndrome 29 CNOT1

Anatomical Context for Vissers-Bodmer Syndrome

MalaCards organs/tissues related to Vissers-Bodmer Syndrome:

40
Brain

Publications for Vissers-Bodmer Syndrome

Articles related to Vissers-Bodmer Syndrome:

# Title Authors PMID Year
1
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. 57 6
32553196 2020
2
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. 57
31006513 2019
3
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly. 57
31006510 2019
4
A novel vibratory stimulation-based occlusal splint for alleviation of TMD painful symptoms: a pilot study. 61
23281831 2013

Variations for Vissers-Bodmer Syndrome

ClinVar genetic disease variations for Vissers-Bodmer Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CNOT1 NM_016284.5(CNOT1):c.76C>T (p.Arg26Ter) SNV Pathogenic 978820 16:58633166-58633166 16:58599262-58599262
2 CNOT1 NM_016284.5(CNOT1):c.97C>T (p.Gln33Ter) SNV Pathogenic 978821 16:58633145-58633145 16:58599241-58599241
3 CNOT1 NM_016284.5(CNOT1):c.608_611del (p.Ile203fs) Deletion Pathogenic 421508 rs1064795181 16:58620475-58620478 16:58586571-58586574
4 CNOT1 NM_016284.5(CNOT1):c.2698C>T (p.Arg900Cys) SNV Pathogenic 978823 16:58589348-58589348 16:58555444-58555444
5 CNOT1 NM_016284.5(CNOT1):c.4432C>T (p.Arg1478Cys) SNV Pathogenic 978824 16:58577513-58577513 16:58543609-58543609
6 CNOT1 NM_016284.5(CNOT1):c.102+2T>C SNV Likely pathogenic 982380 16:58633138-58633138 16:58599234-58599234

Expression for Vissers-Bodmer Syndrome

Search GEO for disease gene expression data for Vissers-Bodmer Syndrome.

Pathways for Vissers-Bodmer Syndrome

GO Terms for Vissers-Bodmer Syndrome

Sources for Vissers-Bodmer 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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