GADEVS
MCID: GBR007
MIFTS: 26

Gabriele-De Vries Syndrome (GADEVS)

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

Aliases & Classifications for Gabriele-De Vries Syndrome

MalaCards integrated aliases for Gabriele-De Vries Syndrome:

Name: Gabriele-De Vries Syndrome 58 60 76 6
Gadevs 58 76
Yy1 Haploinsufficiency Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
gabriele-de vries syndrome:
Onset and clinical course phenotypic variability


Classifications:



Summaries for Gabriele-De Vries Syndrome

OMIM : 58 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, also known as gadevs, is related to myasthenia gravis and learning disability. An important gene associated with Gabriele-De Vries Syndrome is YY1 (YY1 Transcription Factor), and among its related pathways/superpathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Deubiquitination. Affiliated tissues include brain, and related phenotypes are malar flattening and intellectual disability

UniProtKB/Swiss-Prot : 76 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

Diseases related to Gabriele-De Vries Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myasthenia gravis 10.4
2 learning disability 10.4
3 myasthenia gravis congenital 10.4

Symptoms & Phenotypes for Gabriele-De Vries Syndrome

Human phenotypes related to Gabriele-De Vries Syndrome:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 intellectual disability 33 HP:0001249
3 tremor 33 HP:0001337
4 global developmental delay 33 HP:0001263
5 delayed speech and language development 33 HP:0000750
6 thick lower lip vermilion 33 HP:0000179
7 strabismus 33 HP:0000486
8 periorbital fullness 33 HP:0000629
9 dystonia 33 HP:0001332
10 waddling gait 33 HP:0002515
11 abnormality of the pinna 33 HP:0000377
12 ventriculomegaly 33 HP:0002119
13 joint laxity 33 HP:0001388
14 broad forehead 33 HP:0000337
15 downslanted palpebral fissures 33 HP:0000494
16 pointed chin 33 HP:0000307
17 facial asymmetry 33 HP:0000324
18 long fingers 33 HP:0100807
19 posteriorly rotated ears 33 HP:0000358
20 abnormality of the cerebral white matter 33 HP:0002500
21 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
malar flattening
broad forehead
pointed chin
facial asymmetry

Abdomen Gastrointestinal:
feeding difficulties

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Ears:
posteriorly rotated ears
simple ears

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

Skeletal Hands:
long fingers
finger joint laxity

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:

42
Brain

Publications for Gabriele-De Vries Syndrome

Articles related to Gabriele-De Vries Syndrome:

# Title Authors Year
1
A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis. ( 30549423 )
2018

Variations for Gabriele-De Vries Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 YY1 p.Asp380Tyr VAR_065086 rs113169204
2 YY1 p.Leu366Pro VAR_079206 rs113169216

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.1138G> T (p.Asp380Tyr) single nucleotide variant Pathogenic rs1131692043 GRCh38 Chromosome 14, 100277493: 100277493
2 YY1 NM_003403.4(YY1): c.1138G> T (p.Asp380Tyr) single nucleotide variant Pathogenic rs1131692043 GRCh37 Chromosome 14, 100743830: 100743830
3 YY1 NM_003403.4(YY1): c.1097T> C (p.Leu366Pro) single nucleotide variant Pathogenic rs1131692163 GRCh38 Chromosome 14, 100277452: 100277452
4 YY1 NM_003403.4(YY1): c.1097T> C (p.Leu366Pro) single nucleotide variant Pathogenic rs1131692163 GRCh37 Chromosome 14, 100743789: 100743789
5 YY1 NM_003403.4(YY1): c.1096C> G (p.Leu366Val) single nucleotide variant Pathogenic rs1131692044 GRCh38 Chromosome 14, 100277451: 100277451
6 YY1 NM_003403.4(YY1): c.1096C> G (p.Leu366Val) single nucleotide variant Pathogenic rs1131692044 GRCh37 Chromosome 14, 100743788: 100743788
7 YY1 NM_003403.4(YY1): c.1030C> T (p.Gln344Ter) single nucleotide variant Pathogenic rs1131692045 GRCh38 Chromosome 14, 100276616: 100276616
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 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
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