VERBRAS
MCID: VRV001
MIFTS: 16

Ververi-Brady Syndrome (VERBRAS)

Categories: Genetic diseases

Aliases & Classifications for Ververi-Brady Syndrome

MalaCards integrated aliases for Ververi-Brady Syndrome:

Name: Ververi-Brady Syndrome 58 76 6
Verbras 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in infancy or first years of life
three unrelated patients have been reported (last curated may 2018)


Classifications:



Summaries for Ververi-Brady Syndrome

OMIM : 58 Ververi-Brady syndrome is characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018). (617982)

MalaCards based summary : Ververi-Brady Syndrome, is also known as verbras. An important gene associated with Ververi-Brady Syndrome is QRICH1 (Glutamine Rich 1). Related phenotypes are intrauterine growth retardation and intention tremor

UniProtKB/Swiss-Prot : 76 Ververi-Brady syndrome: An autosomal dominant disorder characterized by mild developmental delay and intellectual disability, speech delay, learning difficulties, autistic features, and mild facial dysmorphism.

Related Diseases for Ververi-Brady Syndrome

Symptoms & Phenotypes for Ververi-Brady Syndrome

Human phenotypes related to Ververi-Brady Syndrome:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 33 very rare (1%) HP:0001511
2 intention tremor 33 very rare (1%) HP:0002080
3 unsteady gait 33 very rare (1%) HP:0002317
4 hypertelorism 33 HP:0000316
5 low-set ears 33 HP:0000369
6 ptosis 33 HP:0000508
7 delayed speech and language development 33 HP:0000750
8 abnormal facial shape 33 HP:0001999
9 smooth philtrum 33 HP:0000319
10 intellectual disability, mild 33 HP:0001256
11 everted lower lip vermilion 33 HP:0000232
12 wide mouth 33 HP:0000154
13 upslanted palpebral fissure 33 HP:0000582
14 broad nasal tip 33 HP:0000455
15 thin upper lip vermilion 33 HP:0000219
16 wide nose 33 HP:0000445
17 prominent nose 33 HP:0000448
18 cupped ear 33 HP:0000378

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
upslanting palpebral fissures

Head And Neck Face:
smooth philtrum
dysmorphic facial features, variable

Head And Neck Mouth:
wide mouth
thin upper lip
protruding lower lip

Neurologic Peripheral Nervous System:
hyporeflexia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Head:
microcephaly (-6 sd) (in 1 patient)

Head And Neck Ears:
low-set ears
cupped ears

Neurologic Central Nervous System:
intellectual disability, mild
speech delay
intention tremor (1 patient)
delayed global development, mild
unsteady gait (1 patient)

Head And Neck Nose:
broad nasal tip
prominent nose
broad nose
long columella

Muscle Soft Tissue:
hypotonia

Growth Other:
intrauterine growth retardation (in some patients)
poor overall growth (in some patients)

Laboratory Abnormalities:
transiently increased serum creatine kinase (in some patients)

Clinical features from OMIM:

617982

Drugs & Therapeutics for Ververi-Brady Syndrome

Search Clinical Trials , NIH Clinical Center for Ververi-Brady Syndrome

Genetic Tests for Ververi-Brady Syndrome

Anatomical Context for Ververi-Brady Syndrome

Publications for Ververi-Brady Syndrome

Articles related to Ververi-Brady Syndrome:

# Title Authors Year
1
QRICH1 mutations cause a chondrodysplasia with developmental delay. ( 30281152 )
2019
2
Phenotypic spectrum associated with de novo mutations in QRICH1 gene. ( 28692176 )
2018

Variations for Ververi-Brady Syndrome

ClinVar genetic disease variations for Ververi-Brady Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 QRICH1 NM_017730.3(QRICH1): c.1954C> T (p.Arg652Ter) single nucleotide variant Pathogenic rs1236702036 GRCh37 Chromosome 3, 49070148: 49070148
2 QRICH1 NM_017730.3(QRICH1): c.1954C> T (p.Arg652Ter) single nucleotide variant Pathogenic rs1236702036 GRCh38 Chromosome 3, 49032715: 49032715
3 QRICH1 NM_017730.3(QRICH1): c.1953dup (p.Arg652Alafs) duplication Pathogenic rs1553738605 GRCh37 Chromosome 3, 49070149: 49070149
4 QRICH1 NM_017730.3(QRICH1): c.1953dup (p.Arg652Alafs) duplication Pathogenic rs1553738605 GRCh38 Chromosome 3, 49032716: 49032716
5 QRICH1 NM_017730.3(QRICH1): c.138_139delGCinsTT (p.Gln46_Gln47delinsHisTer) indel Pathogenic rs1553747119 GRCh38 Chromosome 3, 49076879: 49076880
6 QRICH1 NM_017730.3(QRICH1): c.138_139delGCinsTT (p.Gln46_Gln47delinsHisTer) indel Pathogenic rs1553747119 GRCh37 Chromosome 3, 49114312: 49114313
7 QRICH1 NM_017730.3(QRICH1): c.1378C> T (p.Gln460Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 49084640: 49084640
8 QRICH1 NM_017730.3(QRICH1): c.1378C> T (p.Gln460Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 49047207: 49047207
9 QRICH1 NM_001320585.1(QRICH1): c.1606C> T (p.Arg536Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 49046490: 49046490
10 QRICH1 NM_001320585.1(QRICH1): c.1606C> T (p.Arg536Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 49083923: 49083923

Expression for Ververi-Brady Syndrome

Search GEO for disease gene expression data for Ververi-Brady Syndrome.

Pathways for Ververi-Brady Syndrome

GO Terms for Ververi-Brady Syndrome

Sources for Ververi-Brady Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....