VERBRAS
MCID: VRV001
MIFTS: 24

Ververi-Brady Syndrome (VERBRAS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ververi-Brady Syndrome

MalaCards integrated aliases for Ververi-Brady Syndrome:

Name: Ververi-Brady Syndrome 57 72 36 6
Verbras 57 72
Qrich1-Related Intellectual Disability-Chondrodysplasia Syndrome 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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)


HPO:

31
ververi-brady syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Ververi-Brady Syndrome

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Ververi-Brady Syndrome, also known as verbras, is related to wilms tumor 1 and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Ververi-Brady Syndrome is QRICH1 (Glutamine Rich 1). Related phenotypes are intrauterine growth retardation and unsteady gait

KEGG : 36 Ververi-Brady syndrome (VERBRAS) is characterized by by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. It has been suggested that mutations in QRICH1 cause VERBRAS.

UniProtKB/Swiss-Prot : 72 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

Diseases related to Ververi-Brady Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 10.2
2 alacrima, achalasia, and mental retardation syndrome 10.2
3 microcephaly 10.2

Symptoms & Phenotypes for Ververi-Brady Syndrome

Human phenotypes related to Ververi-Brady Syndrome:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 31 very rare (1%) HP:0001511
2 unsteady gait 31 very rare (1%) HP:0002317
3 intention tremor 31 very rare (1%) HP:0002080
4 ptosis 31 HP:0000508
5 hypertelorism 31 HP:0000316
6 delayed speech and language development 31 HP:0000750
7 abnormal facial shape 31 HP:0001999
8 microcephaly 31 HP:0000252
9 smooth philtrum 31 HP:0000319
10 intellectual disability, mild 31 HP:0001256
11 everted lower lip vermilion 31 HP:0000232
12 low-set ears 31 HP:0000369
13 wide mouth 31 HP:0000154
14 upslanted palpebral fissure 31 HP:0000582
15 thin upper lip vermilion 31 HP:0000219
16 hyporeflexia 31 HP:0001265
17 wide nose 31 HP:0000445
18 cupped ear 31 HP:0000378
19 prominent nose 31 HP:0000448
20 broad nasal tip 31 HP:0000455
21 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
hypertelorism
upslanting palpebral fissures

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

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

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

Neurologic Behavioral Psychiatric Manifestations:
autistic features

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

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

Head And Neck Ears:
low-set ears
cupped ears

Neurologic Peripheral Nervous System:
hyporeflexia

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 (Updated 20-May-2021)

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 PMID Year
1
QRICH1 mutations cause a chondrodysplasia with developmental delay. 6 57
30281152 2019
2
Phenotypic spectrum associated with de novo mutations in QRICH1 gene. 6 57
28692176 2018
3
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 57
19344873 2009
4
A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature review. 61
33738978 2021
5
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. 61
33009816 2021

Variations for Ververi-Brady Syndrome

ClinVar genetic disease variations for Ververi-Brady Syndrome:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 QRICH1 NM_198880.3(QRICH1):c.1954C>T (p.Arg652Ter) SNV Pathogenic 523657 rs1236702036 GRCh37: 3:49070148-49070148
GRCh38: 3:49032715-49032715
2 QRICH1 NM_198880.3(QRICH1):c.1953dup (p.Arg652fs) Duplication Pathogenic 523658 rs1553738605 GRCh37: 3:49070148-49070149
GRCh38: 3:49032715-49032716
3 QRICH1 NM_198880.3(QRICH1):c.138_139delinsTT (p.Gln46_Gln47delinsHisTer) Indel Pathogenic 523659 rs1553747119 GRCh37: 3:49114312-49114313
GRCh38: 3:49076879-49076880
4 QRICH1 NM_198880.3(QRICH1):c.1378C>T (p.Gln460Ter) SNV Pathogenic 584433 rs1559931177 GRCh37: 3:49084640-49084640
GRCh38: 3:49047207-49047207
5 QRICH1 NM_198880.3(QRICH1):c.1606C>T (p.Arg536Ter) SNV Pathogenic 620666 rs1559930732 GRCh37: 3:49083923-49083923
GRCh38: 3:49046490-49046490
6 QRICH1 NM_198880.3(QRICH1):c.1143_1144CT[2] (p.Leu383fs) Microsatellite Pathogenic 801969 rs1376687924 GRCh37: 3:49094483-49094486
GRCh38: 3:49057050-49057053
7 QRICH1 NM_198880.3(QRICH1):c.64dup (p.Val22fs) Duplication Pathogenic 801970 rs1575373920 GRCh37: 3:49114386-49114387
GRCh38: 3:49076953-49076954
8 QRICH1 NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn) SNV Likely pathogenic 929834 GRCh37: 3:49068009-49068009
GRCh38: 3:49030576-49030576
9 QRICH1 NM_198880.3(QRICH1):c.1807G>T (p.Val603Leu) SNV Uncertain significance 982709 GRCh37: 3:49070641-49070641
GRCh38: 3:49033208-49033208
10 QRICH1 NM_198880.3(QRICH1):c.770C>T (p.Ser257Phe) SNV Uncertain significance 989278 GRCh37: 3:49094863-49094863
GRCh38: 3:49057430-49057430
11 QRICH1 NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu) SNV Uncertain significance 1030588 GRCh37: 3:49094782-49094782
GRCh38: 3:49057349-49057349
12 QRICH1 NM_198880.3(QRICH1):c.1306C>G (p.Gln436Glu) SNV Uncertain significance 801968 rs1575347805 GRCh37: 3:49094327-49094327
GRCh38: 3:49056894-49056894

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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