Gabriele-De Vries Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

GADEVS MCID: GBR007 MIFTS: 30	Gabriele-De Vries Syndrome (GADEVS) Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Gabriele-De Vries Syndrome

MalaCards integrated aliases for Gabriele-De Vries Syndrome:

Name: Gabriele-De Vries Syndrome ⁵⁶ ²⁴ ⁵⁸ ⁷³ ⁶

Gadevs ⁵⁶ ⁷³

Yy1 Intellectual Disability Syndrome ²⁴

Yy1 Haploinsufficiency Syndrome ⁵⁸

Characteristics:

OMIM:

⁵⁶

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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 617557

MeSH ⁴³ D065886

Orphanet ⁵⁸ ORPHA506358

MedGen ⁴¹ C4479652 CN303159

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Summaries for Gabriele-De Vries Syndrome

OMIM : ⁵⁶ 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). Affiliated tissues include brain, breast and skin, and related phenotypes are malar flattening and tremor

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

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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
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:

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Symptoms & Phenotypes for Gabriele-De Vries Syndrome

Human phenotypes related to Gabriele-De Vries Syndrome:

⁵⁸ ³¹ (show top 50) (show all 78)

#	Description	Orphanet Frequency	HPO Source Accession
1	malar flattening ⁵⁸ ³¹	Very frequent (99-80%)	HP:0000272
2	tremor ⁵⁸ ³¹	Occasional (29-5%)	HP:0001337
3	global developmental delay ⁵⁸ ³¹	Very frequent (99-80%)	HP:0001263
4	abnormality of the dentition ⁵⁸ ³¹	Occasional (29-5%)	HP:0000164
5	delayed speech and language development ⁵⁸ ³¹	Frequent (79-30%)	HP:0000750
6	cryptorchidism ⁵⁸ ³¹	Occasional (29-5%)	HP:0000028
7	downslanted palpebral fissures ⁵⁸ ³¹	Frequent (79-30%)	HP:0000494
8	intrauterine growth retardation ⁵⁸ ³¹	Frequent (79-30%)	HP:0001511
9	thick lower lip vermilion ⁵⁸ ³¹	Very frequent (99-80%)	HP:0000179
10	strabismus ⁵⁸ ³¹	Frequent (79-30%)	HP:0000486
11	periorbital fullness ⁵⁸ ³¹	Frequent (79-30%)	HP:0000629
12	dystonia ⁵⁸ ³¹	Occasional (29-5%)	HP:0001332
13	waddling gait ⁵⁸ ³¹	Occasional (29-5%)	HP:0002515
14	ventriculomegaly ⁵⁸ ³¹	Occasional (29-5%)	HP:0002119
15	broad forehead ⁵⁸ ³¹	Very frequent (99-80%)	HP:0000337
16	posteriorly rotated ears ⁵⁸ ³¹	Frequent (79-30%)	HP:0000358
17	abnormality of the cerebral white matter ⁵⁸ ³¹	Occasional (29-5%)	HP:0002500
18	facial asymmetry ⁵⁸ ³¹	Frequent (79-30%)	HP:0000324
19	pointed chin ⁵⁸ ³¹	Frequent (79-30%)	HP:0000307
20	delayed myelination ⁵⁸ ³¹	Occasional (29-5%)	HP:0012448
21	low-set ears ⁵⁸	Occasional (29-5%)
22	agenesis of corpus callosum ⁵⁸	Occasional (29-5%)
23	intellectual disability ³¹		HP:0001249
24	ptosis ⁵⁸	Occasional (29-5%)
25	high palate ⁵⁸	Occasional (29-5%)
26	hypothyroidism ⁵⁸	Occasional (29-5%)
27	muscular hypotonia ⁵⁸	Frequent (79-30%)
28	behavioral abnormality ⁵⁸	Frequent (79-30%)
29	abnormal facial shape ⁵⁸	Very frequent (99-80%)
30	feeding difficulties ³¹		HP:0011968
31	micrognathia ⁵⁸	Occasional (29-5%)
32	craniosynostosis ⁵⁸	Occasional (29-5%)
33	hallux valgus ⁵⁸	Occasional (29-5%)
34	intellectual disability, moderate ⁵⁸	Frequent (79-30%)
35	feeding difficulties in infancy ⁵⁸	Frequent (79-30%)
36	intellectual disability, mild ⁵⁸	Frequent (79-30%)
37	intellectual disability, severe ⁵⁸	Occasional (29-5%)
38	dolichocephaly ⁵⁸	Occasional (29-5%)
39	severe global developmental delay ⁵⁸	Occasional (29-5%)
40	absent speech ⁵⁸	Occasional (29-5%)
41	autism ⁵⁸	Occasional (29-5%)
42	attention deficit hyperactivity disorder ⁵⁸	Occasional (29-5%)
43	anxiety ⁵⁸	Occasional (29-5%)
44	abnormality of the pinna ³¹		HP:0000377
45	joint laxity ³¹		HP:0001388
46	telecanthus ⁵⁸	Occasional (29-5%)
47	hydronephrosis ⁵⁸	Occasional (29-5%)
48	patent foramen ovale ⁵⁸	Occasional (29-5%)
49	sandal gap ⁵⁸	Occasional (29-5%)
50	bulbous nose ⁵⁸	Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Eyes:
strabismus
periorbital fullness
downslanting palpebral fissures

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

Genitourinary External Genitalia Male:
cryptorchidism

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

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Drugs & Therapeutics for Gabriele-De Vries Syndrome

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

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Genetic Tests for Gabriele-De Vries Syndrome

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Anatomical Context for Gabriele-De Vries Syndrome

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

⁴⁰

Brain, Breast, Skin

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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. ²⁴ ⁵⁶ ⁶	Gabriele M...de Vries BBA	28575647	2017
2	A de novo paradigm for mental retardation. ²⁴ ⁵⁶ ⁶	Vissers LE...Veltman JA	21076407	2010
3	Gabriele-de Vries Syndrome ⁶¹ ⁶	Nabais Sa MJ...de Vries BBA	31145572	2019
4	The Yin and Yang of YY1 in tumor growth and suppression. ²⁴	Khachigian LM	29322514	2018
5	The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes. ²⁴	Gabriele M...Testa G	29309830	2018
6	YY1 Is a Structural Regulator of Enhancer-Promoter Loops. ²⁴	Weintraub AS...Young RA	29224777	2017
7	YY1 and CTCF orchestrate a 3D chromatin looping switch during early neural lineage commitment. ²⁴	Beagan JA...Phillips-Cremins JE	28536180	2017
8	Targeting the Overexpressed YY1 in Cancer Inhibits EMT and Metastasis. ²⁴	Cho AA...Bonavida B	29604936	2017
9	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
10	A structural hierarchy mediated by multiple nuclear factors establishes IgH locus conformation. ²⁴	Gerasimova T...Sen R	26302788	2015
11	Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas. ²⁴	Lichtenauer UD...Beuschlein F	25763608	2015
12	Function of YY1 in Long-Distance DNA Interactions. ²⁴	Atchison ML	24575094	2014
13	Flexible long-range loops in the VH gene region of the Igh locus facilitate the generation of a diverse antibody repertoire. ²⁴	Medvedovic J...Busslinger M	23973221	2013
14	Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1. ²⁴	Cao Y...Ning G	24326773	2013
15	Yin Yang-1 suppresses differentiation of hepatocellular carcinoma cells through the downregulation of CCAAT/enhancer-binding protein alpha. ²⁴	Zhang S...Jin H	22391813	2012
16	Yin yang 1 expression in human tumors. ²⁴	Zaravinos A...Spandidos DA	20081375	2010
17	The Yin and Yang of YY1 in the nervous system. ²⁴	He Y...Casaccia-Bonnefil P	18485096	2008
18	The transcription factor Yin Yang 1 is essential for oligodendrocyte progenitor differentiation. ²⁴	He Y...Casaccia-Bonnefil P	17640524	2007
19	Targeted disruption of mouse Yin Yang 1 transcription factor results in peri-implantation lethality. ²⁴	Donohoe ME...Shi Y	10490658	1999
20	Transcriptional repression by YY1, a human GLI-Krüppel-related protein, and relief of repression by adenovirus E1A protein. ²⁴	Shi Y...Shenk T	1655281	1991
21	A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis. ⁶¹	Morales-Rosado JA...Dhamija R	30549423	2018

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Genes for Gabriele-De Vries Syndrome

Genes related to Gabriele-De Vries Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	YY1	YY1 Transcription Factor	Protein Coding	1578.99	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ GeneCards inferred via : Disorders Publications Variants (show sections)	28575647 21076407 31145572

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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.1138G>T (p.Asp380Tyr)	SNV	Pathogenic	430617	rs1131692043	14:100743830-100743830	14:100277493-100277493
2	YY1	NM_003403.5(YY1):c.1097T>C (p.Leu366Pro)	SNV	Pathogenic	430618	rs1131692163	14:100743789-100743789	14:100277452-100277452
3	YY1	NM_003403.5(YY1):c.1096C>G (p.Leu366Val)	SNV	Pathogenic	430619	rs1131692044	14:100743788-100743788	14:100277451-100277451
4	YY1	NM_003403.5(YY1):c.1030C>T (p.Gln344Ter)	SNV	Pathogenic	430620	rs1131692045	14:100742953-100742953	14:100276616-100276616
5	YY1	NM_003403.5(YY1):c.535A>T (p.Lys179Ter)	SNV	Pathogenic	430621	rs1131692046	14:100706116-100706116	14:100239779-100239779

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

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Expression for Gabriele-De Vries Syndrome

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

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Pathways for Gabriele-De Vries Syndrome

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GO Terms for Gabriele-De Vries Syndrome

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Gabriele-De Vries Syndrome (GADEVS)

Aliases & Classifications for Gabriele-De Vries Syndrome

MalaCards integrated aliases for Gabriele-De Vries Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Gabriele-De Vries Syndrome

Related Diseases for Gabriele-De Vries Syndrome

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

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

Symptoms & Phenotypes for Gabriele-De Vries Syndrome

Human phenotypes related to Gabriele-De Vries Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Gabriele-De Vries Syndrome

Articles related to Gabriele-De Vries Syndrome:

Genes for Gabriele-De Vries Syndrome

Genes related to Gabriele-De Vries Syndrome (1 elite genes):

Variations for Gabriele-De Vries Syndrome

ClinVar genetic disease variations for Gabriele-De Vries Syndrome:

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

Expression for Gabriele-De Vries Syndrome

Pathways for Gabriele-De Vries Syndrome

GO Terms for Gabriele-De Vries Syndrome

Sources for Gabriele-De Vries Syndrome