GADEVS
MCID: GBR007
MIFTS: 30

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 57 24 59 74 6
Gadevs 57 74
Yy1 Intellectual Disability Syndrome 24
Yy1 Haploinsufficiency Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
gabriele-de vries syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617557
MeSH 44 D065886
Orphanet 59 ORPHA506358

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, also known as gadevs, is related to alacrima, achalasia, and mental retardation syndrome and gastroesophageal reflux. 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 : 74 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.

GeneReviews: NBK541730

Related Diseases for Gabriele-De Vries Syndrome

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.5
2 gastroesophageal reflux 10.3
3 cleft palate, isolated 10.3
4 attention deficit-hyperactivity disorder 10.3
5 strabismus 10.3
6 cryptorchidism, unilateral or bilateral 10.3
7 myasthenia gravis 10.3
8 pierre robin syndrome 10.3
9 constipation 10.3
10 craniosynostosis 10.3
11 congenital myasthenic syndrome 10.3
12 schizoaffective disorder 10.3
13 learning disability 10.3
14 mechanical strabismus 10.3
15 refractive error 10.3
16 isolated pierre robin sequence 10.3
17 hypotonia 10.3

Graphical network of the top 20 diseases related to Gabriele-De Vries Syndrome:



Diseases related to Gabriele-De Vries Syndrome

Symptoms & Phenotypes for Gabriele-De Vries Syndrome

Human phenotypes related to Gabriele-De Vries Syndrome:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 intellectual disability 32 HP:0001249
3 tremor 32 HP:0001337
4 global developmental delay 32 HP:0001263
5 abnormality of the dentition 32 HP:0000164
6 delayed speech and language development 32 HP:0000750
7 feeding difficulties 32 HP:0011968
8 thick lower lip vermilion 32 HP:0000179
9 strabismus 32 HP:0000486
10 periorbital fullness 32 HP:0000629
11 cryptorchidism 32 HP:0000028
12 intrauterine growth retardation 32 HP:0001511
13 dystonia 32 HP:0001332
14 waddling gait 32 HP:0002515
15 abnormality of the pinna 32 HP:0000377
16 ventriculomegaly 32 HP:0002119
17 joint laxity 32 HP:0001388
18 broad forehead 32 HP:0000337
19 facial asymmetry 32 HP:0000324
20 downslanted palpebral fissures 32 HP:0000494
21 pointed chin 32 HP:0000307
22 long fingers 32 HP:0100807
23 posteriorly rotated ears 32 HP:0000358
24 delayed myelination 32 HP:0012448
25 abnormality of the cerebral white matter 32 HP:0002500

Symptoms via clinical synopsis from OMIM:

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

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:

41
Brain

Publications for Gabriele-De Vries Syndrome

Articles related to Gabriele-De Vries Syndrome:

(show all 21)
# Title Authors PMID Year
1
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. 4 8 71
28575647 2017
2
A de novo paradigm for mental retardation. 4 8 71
21076407 2010
3
Gabriele-de Vries Syndrome 38 71
31145572 2019
4
The Yin and Yang of YY1 in tumor growth and suppression. 4
29322514 2018
5
The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes. 4
29309830 2018
6
YY1 Is a Structural Regulator of Enhancer-Promoter Loops. 4
29224777 2017
7
YY1 and CTCF orchestrate a 3D chromatin looping switch during early neural lineage commitment. 4
28536180 2017
8
Targeting the Overexpressed YY1 in Cancer Inhibits EMT and Metastasis. 4
29604936 2017
9
Timing, rates and spectra of human germline mutation. 4
26656846 2016
10
A structural hierarchy mediated by multiple nuclear factors establishes IgH locus conformation. 4
26302788 2015
11
Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas. 4
25763608 2015
12
Function of YY1 in Long-Distance DNA Interactions. 4
24575094 2014
13
Flexible long-range loops in the VH gene region of the Igh locus facilitate the generation of a diverse antibody repertoire. 4
23973221 2013
14
Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1. 4
24326773 2013
15
Yin Yang-1 suppresses differentiation of hepatocellular carcinoma cells through the downregulation of CCAAT/enhancer-binding protein alpha. 4
22391813 2012
16
Yin yang 1 expression in human tumors. 4
20081375 2010
17
The Yin and Yang of YY1 in the nervous system. 4
18485096 2008
18
The transcription factor Yin Yang 1 is essential for oligodendrocyte progenitor differentiation. 4
17640524 2007
19
Targeted disruption of mouse Yin Yang 1 transcription factor results in peri-implantation lethality. 4
10490658 1999
20
Transcriptional repression by YY1, a human GLI-Krüppel-related protein, and relief of repression by adenovirus E1A protein. 4
1655281 1991
21
A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis. 38
30549423 2018

Variations for Gabriele-De Vries Syndrome

ClinVar genetic disease variations for Gabriele-De Vries Syndrome:

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

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

74
# Symbol AA change Variation ID SNP ID
1 YY1 p.Asp380Tyr VAR_065086 rs113169204
2 YY1 p.Leu366Pro VAR_079206 rs113169216

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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