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 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:

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

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 617557

MeSH ⁴⁵ D065886

Orphanet ⁶⁰ ORPHA506358

MedGen ⁴³ C4479652 CN303159

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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.

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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:

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

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Symptoms & Phenotypes for Gabriele-De Vries Syndrome

Human phenotypes related to Gabriele-De Vries Syndrome:

³³ (show all 21)

#	Description	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

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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:

⁴²

Brain

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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 )	Morales-Rosado JA...Dhamija R	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	1579.1	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Causative variation ⁷⁶ GeneCards inferred via : Disorders Variants (show sections)	28575647 21076407
2	MIR6764	MicroRNA 6764	RNA Gene	8.6	GeneCards inferred via : Variants (show sections)
3	SLC25A29	Solute Carrier Family 25 Member 29	Protein Coding	7.91	GeneCards inferred via : Variants (show sections)

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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

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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) ⁶⁷ Show member pathways DNA Damage Recognition in GG-NER ⁶⁷ Dual incision in TC-NER ⁶⁷ Formation of Incision Complex in GG-NER ⁶⁷ Formation of TC-NER Pre-Incision Complex ⁶⁷ Gap-filling DNA repair synthesis and ligation in TC-NER ⁶⁷ Global Genome Nucleotide Excision Repair (GG-NER) ⁶⁷ Nucleotide Excision Repair ⁶⁷	11.99	MIR6764 YY1
2	Deubiquitination ⁶⁷ Show member pathways Ub-specific processing proteases ⁶⁷	11.88	MIR6764 YY1
3	Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors ⁶⁷ Show member pathways Activation of the TFAP2 (AP-2) family of transcription factors ⁶⁷ Negative regulation of activity of TFAP2 (AP-2) family transcription factors ⁶⁷ TFAP2 (AP-2) family regulates transcription of cell cycle factors ⁶⁷ TFAP2 (AP-2) family regulates transcription of growth factors and their receptors ⁶⁷ TFAP2 (AP-2) family regulates transcription of other transcription factors ⁶⁷ TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation ⁶⁷	10.92	MIR6764 YY1
4	Sterol Regulatory Element-Binding Proteins (SREBP) signalling ¹	10.49	MIR6764 YY1

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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:

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

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

ClinVar 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