GADEVS
MCID: GBR007
MIFTS: 34

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 25 58 73 36
Gadevs 57 73
Yy1 Intellectual Disability Syndrome 25
Yy1 Haploinsufficiency Syndrome 58
Gabriele De Vries Syndrome 6

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
gabriele-de vries syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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) (Updated 05-Mar-2021)

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). Affiliated tissues include breast and brain, and related phenotypes are thick lower lip vermilion and malar flattening

KEGG : 36 Gabriele-de Vries syndrome (GADEVS) is an intellectual disability syndrome caused by mutations in YY1. YY1 encodes a multi-functional transcription factor involved in many regulatory processes.

UniProtKB/Swiss-Prot : 73 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 28)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.5
2 gastroesophageal reflux 10.4
3 cleft palate, isolated 10.2
4 attention deficit-hyperactivity disorder 10.2
5 strabismus 10.2
6 vesicoureteral reflux 1 10.2
7 cryptorchidism, unilateral or bilateral 10.2
8 myasthenia gravis 10.2
9 pierre robin syndrome 10.2
10 ataxia and polyneuropathy, adult-onset 10.2
11 apraxia 10.2
12 urinary tract infection 10.2
13 pyelonephritis 10.2
14 heart septal defect 10.2
15 atrial heart septal defect 10.2
16 constipation 10.2
17 craniosynostosis 10.2
18 congenital myasthenic syndrome 10.2
19 movement disease 10.2
20 schizoaffective disorder 10.2
21 dystonia 10.2
22 acute pyelonephritis 10.2
23 learning disability 10.2
24 mechanical strabismus 10.2
25 refractive error 10.2
26 isolated pierre robin sequence 10.2
27 hypotonia 10.2
28 tremor 10.2

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:

58 31 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
2 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
3 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
4 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
5 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
6 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
7 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
8 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
9 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
10 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
11 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
12 posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000358
13 gastrostomy tube feeding in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0011471
14 oral-pharyngeal dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0200136
15 periorbital fullness 58 31 frequent (33%) Frequent (79-30%) HP:0000629
16 abnormality of upper lip vermillion 58 31 frequent (33%) Frequent (79-30%) HP:0011339
17 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
18 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
19 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
20 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
21 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
22 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
23 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
24 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
25 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
26 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
27 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
28 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
29 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
30 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
31 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
32 waddling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002515
33 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
34 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
35 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
36 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
37 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
38 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001822
39 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
40 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
41 severe global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011344
42 hyperextensible skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000974
43 ureteropelvic junction obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000074
44 neuroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0003006
45 esophageal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002032
46 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
47 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
48 recurrent infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002719
49 ebstein anomaly of the tricuspid valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0010316
50 sparse eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0045075

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
tremor
waddling gait
dystonia
delayed myelination
more
Genitourinary External Genitalia Male:
cryptorchidism

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Hands:
long fingers
finger joint laxity

Growth Other:
intrauterine growth retardation, mild

Head And Neck Teeth:
tooth abnormalities

Head And Neck Eyes:
strabismus
periorbital fullness
downslanting palpebral fissures

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

Head And Neck Ears:
posteriorly rotated ears
simple ears

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
autistic features

Head And Neck Mouth:
thick lower lip
indented upper lip

Head And Neck Nose:
full nasal tip

Clinical features from OMIM®:

617557 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Gabriele-De Vries Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Maraba virus infection GR00252-A-1 8.92 EML1 YY1
2 Decreased viability after Maraba virus infection GR00252-A-2 8.92 YY1
3 Decreased viability after Maraba virus infection GR00252-A-3 8.92 EML1

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:

40
Breast, Brain

Publications for Gabriele-De Vries Syndrome

Articles related to Gabriele-De Vries Syndrome:

(show all 24)
# Title Authors PMID Year
1
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. 25 6 57
28575647 2017
2
A de novo paradigm for mental retardation. 6 57 25
21076407 2010
3
The Yin and Yang of YY1 in tumor growth and suppression. 25
29322514 2018
4
The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes. 25
29309830 2018
5
YY1 Is a Structural Regulator of Enhancer-Promoter Loops. 25
29224777 2017
6
YY1 and CTCF orchestrate a 3D chromatin looping switch during early neural lineage commitment. 25
28536180 2017
7
Targeting the Overexpressed YY1 in Cancer Inhibits EMT and Metastasis. 25
29604936 2017
8
Timing, rates and spectra of human germline mutation. 25
26656846 2016
9
A structural hierarchy mediated by multiple nuclear factors establishes IgH locus conformation. 25
26302788 2015
10
Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas. 25
25763608 2015
11
Function of YY1 in Long-Distance DNA Interactions. 25
24575094 2014
12
Flexible long-range loops in the VH gene region of the Igh locus facilitate the generation of a diverse antibody repertoire. 25
23973221 2013
13
Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1. 25
24326773 2013
14
Yin Yang-1 suppresses differentiation of hepatocellular carcinoma cells through the downregulation of CCAAT/enhancer-binding protein alpha. 25
22391813 2012
15
Yin yang 1 expression in human tumors. 25
20081375 2010
16
The Yin and Yang of YY1 in the nervous system. 25
18485096 2008
17
The transcription factor Yin Yang 1 is essential for oligodendrocyte progenitor differentiation. 25
17640524 2007
18
Targeted disruption of mouse Yin Yang 1 transcription factor results in peri-implantation lethality. 25
10490658 1999
19
Transcriptional repression by YY1, a human GLI-Krüppel-related protein, and relief of repression by adenovirus E1A protein. 25
1655281 1991
20
A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene. 61
33369188 2020
21
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome). 61
32627382 2020
22
The effect of D380Y pathogenic mutation in human Yin Yang 1 on the protein's structure and function. 61
32077676 2020
23
Gabriele-de Vries Syndrome 61
31145572 2019
24
A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis. 61
30549423 2018

Variations for Gabriele-De Vries Syndrome

ClinVar genetic disease variations for Gabriele-De Vries Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 YY1 NM_003403.5(YY1):c.1096C>G (p.Leu366Val) SNV Pathogenic 430619 rs1131692044 14:100743788-100743788 14:100277451-100277451
2 YY1 NM_003403.5(YY1):c.1138G>T (p.Asp380Tyr) SNV Pathogenic 430617 rs1131692043 14:100743830-100743830 14:100277493-100277493
3 YY1 NM_003403.5(YY1):c.1030C>T (p.Gln344Ter) SNV Pathogenic 430620 rs1131692045 14:100742953-100742953 14:100276616-100276616
4 YY1 NM_003403.5(YY1):c.1097T>C (p.Leu366Pro) SNV Pathogenic 430618 rs1131692163 14:100743789-100743789 14:100277452-100277452
5 YY1 NM_003403.5(YY1):c.535A>T (p.Lys179Ter) SNV Pathogenic 430621 rs1131692046 14:100706116-100706116 14:100239779-100239779
6 EML1 GRCh37/hg19 14q32.2(chr14:100317190-101012999) copy number loss Pathogenic 813332 14:100317190-101012999
7 YY1 NM_003403.5(YY1):c.1118A>G (p.His373Arg) SNV Likely pathogenic 976756 14:100743810-100743810 14:100277473-100277473
8 YY1 NM_003403.5(YY1):c.207CCA[7] (p.His80dup) Microsatellite Uncertain significance 931670 14:100705787-100705788 14:100239450-100239451

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

73
# 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
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57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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