VERBRAS
MCID: VRV001
MIFTS: 15

Ververi-Brady Syndrome (VERBRAS)

Categories: Genetic diseases

Aliases & Classifications for Ververi-Brady Syndrome

MalaCards integrated aliases for Ververi-Brady Syndrome:

Name: Ververi-Brady Syndrome 57 75 6
Verbras 57 75

Characteristics:

OMIM:

57
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 : 57 Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability 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 hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ververi-Brady Syndrome:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 ptosis 32 HP:0000508
4 delayed speech and language development 32 HP:0000750
5 abnormal facial shape 32 HP:0001999
6 smooth philtrum 32 HP:0000319
7 intellectual disability, mild 32 HP:0001256
8 everted lower lip vermilion 32 HP:0000232
9 intrauterine growth retardation 32 very rare (1%) HP:0001511
10 intention tremor 32 very rare (1%) HP:0002080
11 wide mouth 32 HP:0000154
12 upslanted palpebral fissure 32 HP:0000582
13 broad nasal tip 32 HP:0000455
14 thin upper lip vermilion 32 HP:0000219
15 wide nose 32 HP:0000445
16 prominent nose 32 HP:0000448
17 cupped ear 32 HP:0000378
18 unsteady gait 32 very rare (1%) HP:0002317

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

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 GRCh37 Chromosome 3, 49070148: 49070148
2 QRICH1 NM_017730.3(QRICH1): c.1954C> T (p.Arg652Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 49032715: 49032715
3 QRICH1 NM_017730.3(QRICH1): c.1953dup (p.Arg652Alafs) duplication Pathogenic GRCh37 Chromosome 3, 49070149: 49070149
4 QRICH1 NM_017730.3(QRICH1): c.1953dup (p.Arg652Alafs) duplication Pathogenic GRCh38 Chromosome 3, 49032716: 49032716
5 QRICH1 NM_017730.3(QRICH1): c.138_139delGCinsTT (p.Gln46_Gln47delinsHisTer) indel Pathogenic GRCh38 Chromosome 3, 49076879: 49076880
6 QRICH1 NM_017730.3(QRICH1): c.138_139delGCinsTT (p.Gln46_Gln47delinsHisTer) indel Pathogenic 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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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