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

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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:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 617557

MeSH ⁴⁴ D065886

Orphanet ⁵⁹ ORPHA506358

MedGen ⁴² C4479652 CN303159

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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

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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:

³² (show all 25)

#	Description	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

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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:

⁴¹

Brain

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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. ⁴ ⁸ ⁷¹	Gabriele M...de Vries BBA	28575647	2017
2	A de novo paradigm for mental retardation. ⁴ ⁸ ⁷¹	Vissers LE...Veltman JA	21076407	2010
3	Gabriele-de Vries Syndrome ³⁸ ⁷¹	Nabais Sa MJ...de Vries BBA	31145572	2019
4	The Yin and Yang of YY1 in tumor growth and suppression. ⁴	Khachigian LM	29322514	2018
5	The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes. ⁴	Gabriele M...Testa G	29309830	2018
6	YY1 Is a Structural Regulator of Enhancer-Promoter Loops. ⁴	Weintraub AS...Young RA	29224777	2017
7	YY1 and CTCF orchestrate a 3D chromatin looping switch during early neural lineage commitment. ⁴	Beagan JA...Phillips-Cremins JE	28536180	2017
8	Targeting the Overexpressed YY1 in Cancer Inhibits EMT and Metastasis. ⁴	Cho AA...Bonavida B	29604936	2017
9	Timing, rates and spectra of human germline mutation. ⁴	Rahbari R...Hurles ME	26656846	2016
10	A structural hierarchy mediated by multiple nuclear factors establishes IgH locus conformation. ⁴	Gerasimova T...Sen R	26302788	2015
11	Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas. ⁴	Lichtenauer UD...Beuschlein F	25763608	2015
12	Function of YY1 in Long-Distance DNA Interactions. ⁴	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. ⁴	Medvedovic J...Busslinger M	23973221	2013
14	Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1. ⁴	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. ⁴	Zhang S...Jin H	22391813	2012
16	Yin yang 1 expression in human tumors. ⁴	Zaravinos A...Spandidos DA	20081375	2010
17	The Yin and Yang of YY1 in the nervous system. ⁴	He Y...Casaccia-Bonnefil P	18485096	2008
18	The transcription factor Yin Yang 1 is essential for oligodendrocyte progenitor differentiation. ⁴	He Y...Casaccia-Bonnefil P	17640524	2007
19	Targeted disruption of mouse Yin Yang 1 transcription factor results in peri-implantation lethality. ⁴	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. ⁴	Shi Y...Shenk T	1655281	1991
21	A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis. ³⁸	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	1588.97	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁴ GeneCards inferred via : Disorders Publications Variants (show sections)	31145572 28575647 21076407
2	MIR6764	MicroRNA 6764	RNA Gene	8.58	GeneCards inferred via : Variants (show sections)
3	SLC25A29	Solute Carrier Family 25 Member 29	Protein Coding	7.89	GeneCards inferred via : Variants (show sections)

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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

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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

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

#	Super pathways	Score	Top Affiliating Genes
1	Transcription-Coupled Nucleotide Excision Repair (TC-NER) ⁶⁶ Show member pathways DNA Damage Recognition in GG-NER ⁶⁶ Dual incision in TC-NER ⁶⁶ Formation of Incision Complex in GG-NER ⁶⁶ Formation of TC-NER Pre-Incision Complex ⁶⁶ Gap-filling DNA repair synthesis and ligation in TC-NER ⁶⁶ Global Genome Nucleotide Excision Repair (GG-NER) ⁶⁶ Nucleotide Excision Repair ⁶⁶	11.99	YY1 MIR6764
2	Deubiquitination ⁶⁶ Show member pathways Ub-specific processing proteases ⁶⁶	11.88	YY1 MIR6764
3	Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors ⁶⁶ Show member pathways Activation of the TFAP2 (AP-2) family of transcription factors ⁶⁶ Negative regulation of activity of TFAP2 (AP-2) family transcription factors ⁶⁶ TFAP2 (AP-2) family regulates transcription of cell cycle factors ⁶⁶ TFAP2 (AP-2) family regulates transcription of growth factors and their receptors ⁶⁶ TFAP2 (AP-2) family regulates transcription of other transcription factors ⁶⁶ TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation ⁶⁶	10.92	YY1 MIR6764
4	Sterol Regulatory Element-Binding Proteins (SREBP) signalling ¹	10.49	YY1 MIR6764

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GO Terms for Gabriele-De Vries Syndrome

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Sources for Gabriele-De Vries Syndrome

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⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

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

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

GO Terms for Gabriele-De Vries Syndrome

Sources for Gabriele-De Vries Syndrome