MCID: GBR007
MIFTS: 17

Gabriele-De Vries Syndrome

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

Aliases & Classifications for Gabriele-De Vries Syndrome

MalaCards integrated aliases for Gabriele-De Vries Syndrome:

Name: Gabriele-De Vries Syndrome 57 75 6
Gadevs 57 75
Yy1 Haploinsufficiency Syndrome 59
Gabriele De Vries Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation
additional variable congenital abnormalities may occur


Classifications:



External Ids:

OMIM 57 617557
Orphanet 59 ORPHA506358
MeSH 44 D065886

Summaries for Gabriele-De Vries Syndrome

OMIM : 57 Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017). (617557)

MalaCards based summary : Gabriele-De Vries Syndrome, is also known as gadevs. An important gene associated with Gabriele-De Vries Syndrome is YY1 (YY1 Transcription Factor). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 75 Gabriele-de Vries syndrome: An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability. Most patients have behavioral and feeding problems, movement abnormalities, mild distal skeletal anomalies, and dysmorphic facial features.

Related Diseases for Gabriele-De Vries Syndrome

Symptoms & Phenotypes for Gabriele-De Vries Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
malar flattening
broad forehead
pointed chin
facial asymmetry

Abdomen Gastrointestinal:
feeding difficulties

Genitourinary External Genitalia Male:
cryptorchidism

Skeletal Hands:
long fingers
finger joint laxity

Growth Other:
intrauterine growth retardation, mild

Head And Neck Teeth:
tooth abnormalities

Neurologic Central Nervous System:
intellectual disability
tremor
dystonia
waddling gait
delayed myelination
more
Head And Neck Eyes:
strabismus
periorbital fullness
downslanting palpebral fissures

Head And Neck Ears:
posteriorly rotated ears
simple ears

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral abnormalities

Head And Neck Mouth:
thick lower lip
indented upper lip

Head And Neck Nose:
full nasal tip


Clinical features from OMIM:

617557

Drugs & Therapeutics for Gabriele-De Vries Syndrome

Search Clinical Trials , NIH Clinical Center for Gabriele-De Vries Syndrome

Genetic Tests for Gabriele-De Vries Syndrome

Anatomical Context for Gabriele-De Vries Syndrome

MalaCards organs/tissues related to Gabriele-De Vries Syndrome:

41
Brain

Publications for Gabriele-De Vries Syndrome

Variations for Gabriele-De Vries Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Gabriele-De Vries Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 YY1 p.Asp380Tyr VAR_065086
2 YY1 p.Leu366Pro VAR_079206

ClinVar genetic disease variations for Gabriele-De Vries Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 YY1 NM_003403.4(YY1): c.1030C> T (p.Gln344Ter) single nucleotide variant Pathogenic rs1131692045 GRCh38 Chromosome 14, 100276616: 100276616
2 YY1 NM_003403.4(YY1): c.1138G> T (p.Asp380Tyr) single nucleotide variant Pathogenic rs1131692043 GRCh38 Chromosome 14, 100277493: 100277493
3 YY1 NM_003403.4(YY1): c.1138G> T (p.Asp380Tyr) single nucleotide variant Pathogenic rs1131692043 GRCh37 Chromosome 14, 100743830: 100743830
4 YY1 NM_003403.4(YY1): c.1097T> C (p.Leu366Pro) single nucleotide variant Pathogenic rs1131692163 GRCh38 Chromosome 14, 100277452: 100277452
5 YY1 NM_003403.4(YY1): c.1097T> C (p.Leu366Pro) single nucleotide variant Pathogenic rs1131692163 GRCh37 Chromosome 14, 100743789: 100743789
6 YY1 NM_003403.4(YY1): c.1096C> G (p.Leu366Val) single nucleotide variant Pathogenic rs1131692044 GRCh38 Chromosome 14, 100277451: 100277451
7 YY1 NM_003403.4(YY1): c.1096C> G (p.Leu366Val) single nucleotide variant Pathogenic rs1131692044 GRCh37 Chromosome 14, 100743788: 100743788
8 YY1 NM_003403.4(YY1): c.1030C> T (p.Gln344Ter) single nucleotide variant Pathogenic rs1131692045 GRCh37 Chromosome 14, 100742953: 100742953
9 YY1 NM_003403.4(YY1): c.535A> T (p.Lys179Ter) single nucleotide variant Pathogenic rs1131692046 GRCh38 Chromosome 14, 100239779: 100239779
10 YY1 NM_003403.4(YY1): c.535A> T (p.Lys179Ter) single nucleotide variant Pathogenic rs1131692046 GRCh37 Chromosome 14, 100706116: 100706116

Expression for Gabriele-De Vries Syndrome

Search GEO for disease gene expression data for Gabriele-De Vries Syndrome.

Pathways for Gabriele-De Vries Syndrome

GO Terms for Gabriele-De Vries Syndrome

Sources for Gabriele-De Vries 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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