Atp6v0a2-Related Cutis Laxa disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Atp6v0a2-Related Cutis Laxa

MalaCards integrated aliases for Atp6v0a2-Related Cutis Laxa:

Name: Atp6v0a2-Related Cutis Laxa ²⁴

Arcl2a ²⁴ ⁵³ ⁵⁹

Autosomal Recessive Cutis Laxa Type 2a ²⁴ ⁵⁹

Cutis Laxa with Joint Laxity and Retarded Development ⁵³

Cutis Laxa with Growth and Developmental Delay ⁵³

Cutis Laxa, Autosomal Recessive, Type Iia ⁷³

Cutis Laxa, Autosomal Recessive Type 2a ⁵³

Cutis Laxa with Bone Dystrophy ⁵³

Cutis Laxa, Debre Type ⁵³

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Bone diseases Skin diseases Mental diseases Gastrointestinal diseases Nephrological diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁹

Rare neurological diseases

Rare eye diseases

Rare bone diseases

Rare skin diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁹ ORPHA357058

UMLS via Orphanet ⁷⁴ C0268355

ICD10 via Orphanet ³⁴ Q82.8

UMLS ⁷³ C0268355

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Summaries for Atp6v0a2-Related Cutis Laxa

MalaCards based summary : Atp6v0a2-Related Cutis Laxa, also known as arcl2a, is related to cutis laxa, autosomal recessive, type iia and cutis laxa, autosomal recessive, type iib, and has symptoms including seizures An important gene associated with Atp6v0a2-Related Cutis Laxa is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2). Affiliated tissues include bone, skin and eye.

GeneReviews: NBK5200

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Related Diseases for Atp6v0a2-Related Cutis Laxa

Diseases in the Cutis Laxa family:

Cutis Laxa, Autosomal Dominant 1	Cutis Laxa, Autosomal Recessive, Type Ia
Cutis Laxa, Autosomal Recessive, Type Iiia	Cutis Laxa, Autosomal Recessive, Type Iia
Cutis Laxa, Autosomal Recessive, Type Iib	Cutis Laxa, Autosomal Recessive, Type Ic
Cutis Laxa, Autosomal Dominant 2	Cutis Laxa, Autosomal Recessive, Type Ib
Cutis Laxa, Autosomal Recessive, Type Iiib	Cutis Laxa, Autosomal Dominant 3
Cutis Laxa, Autosomal Recessive, Type Iic	Cutis Laxa, Autosomal Recessive, Type Iid
Autosomal Recessive Cutis Laxa Type Iii	Autosomal Recessive Cutis Laxa Type I
Atp6v0a2-Related Cutis Laxa	Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa	Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa

Diseases related to Atp6v0a2-Related Cutis Laxa via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	cutis laxa, autosomal recessive, type iia	11.7
2	cutis laxa, autosomal recessive, type iib	10.9
3	cutis laxa	10.3
4	ehlers-danlos syndrome	9.9

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Symptoms & Phenotypes for Atp6v0a2-Related Cutis Laxa

UMLS symptoms related to Atp6v0a2-Related Cutis Laxa:

seizures

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Drugs & Therapeutics for Atp6v0a2-Related Cutis Laxa

Search Clinical Trials , NIH Clinical Center for Atp6v0a2-Related Cutis Laxa

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Genetic Tests for Atp6v0a2-Related Cutis Laxa

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Anatomical Context for Atp6v0a2-Related Cutis Laxa

MalaCards organs/tissues related to Atp6v0a2-Related Cutis Laxa:

⁴¹

Bone, Skin, Eye

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Publications for Atp6v0a2-Related Cutis Laxa

Articles related to Atp6v0a2-Related Cutis Laxa:

#	Title	Authors	Year
1	ATP6V0A2-related cutis laxa in ten novel patients: focus on clinical variability and expansion of the phenotype. ( 29952037 )	Beyens A....Callewaert B.	2018
2	Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. ( 27631729 )	Cohen R....Straussberg R.	2016
3	Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. ( 24478233 )	Greally M.T....Van Maldergem L.	2014
4	ATP6V0A2-Related Cutis Laxa ( 20301755 )	Pagon R.A....Stephens K.	1993

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Genes for Atp6v0a2-Related Cutis Laxa

Genes related to Atp6v0a2-Related Cutis Laxa (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP6V0A2	ATPase H+ Transporting V0 Subunit A2	Protein Coding	400	Pathogenic ⁶

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Variations for Atp6v0a2-Related Cutis Laxa

ClinVar genetic disease variations for Atp6v0a2-Related Cutis Laxa:

⁶

(show all 28)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ATP6V0A2	NM_012463.3(ATP6V0A2): c.2293C> T (p.Gln765Ter)	single nucleotide variant	Pathogenic	rs80356758	GRCh37	Chromosome 12, 124239084: 124239084
2	ATP6V0A2	NM_012463.3(ATP6V0A2): c.2293C> T (p.Gln765Ter)	single nucleotide variant	Pathogenic	rs80356758	GRCh38	Chromosome 12, 123754537: 123754537
3	ATP6V0A2	NM_012463.3(ATP6V0A2): c.187C> T (p.Arg63Ter)	single nucleotide variant	Pathogenic	rs80356750	GRCh37	Chromosome 12, 124203239: 124203239
4	ATP6V0A2	NM_012463.3(ATP6V0A2): c.187C> T (p.Arg63Ter)	single nucleotide variant	Pathogenic	rs80356750	GRCh38	Chromosome 12, 123718692: 123718692
5	ATP6V0A2	NM_012463.3(ATP6V0A2): c.1324G> T (p.Glu442Ter)	single nucleotide variant	Pathogenic	rs80356755	GRCh37	Chromosome 12, 124228882: 124228882
6	ATP6V0A2	NM_012463.3(ATP6V0A2): c.1324G> T (p.Glu442Ter)	single nucleotide variant	Pathogenic	rs80356755	GRCh38	Chromosome 12, 123744335: 123744335
7	ATP6V0A2	NM_012463.3(ATP6V0A2): c.1929delA (p.Gln645Argfs)	deletion	Pathogenic	rs80356756	GRCh37	Chromosome 12, 124233326: 124233326
8	ATP6V0A2	NM_012463.3(ATP6V0A2): c.1929delA (p.Gln645Argfs)	deletion	Pathogenic	rs80356756	GRCh38	Chromosome 12, 123748779: 123748779
9	ATP6V0A2	NM_012463.3(ATP6V0A2): c.2176-3_2176-2delCA	deletion	Pathogenic	rs367543007	GRCh37	Chromosome 12, 124238964: 124238965
10	ATP6V0A2	NM_012463.3(ATP6V0A2): c.2176-3_2176-2delCA	deletion	Pathogenic	rs367543007	GRCh38	Chromosome 12, 123754417: 123754418
11	ATP6V0A2	NM_012463.3(ATP6V0A2): c.294+1G> A	single nucleotide variant	Pathogenic	rs80356751	GRCh37	Chromosome 12, 124206996: 124206996
12	ATP6V0A2	NM_012463.3(ATP6V0A2): c.294+1G> A	single nucleotide variant	Pathogenic	rs80356751	GRCh38	Chromosome 12, 123722449: 123722449
13	ATP6V0A2	NM_012463.3(ATP6V0A2): c.353_354delTG (p.Leu118Glnfs)	deletion	Pathogenic	rs80356752	GRCh37	Chromosome 12, 124209259: 124209260
14	ATP6V0A2	NM_012463.3(ATP6V0A2): c.353_354delTG (p.Leu118Glnfs)	deletion	Pathogenic	rs80356752	GRCh38	Chromosome 12, 123724712: 123724713
15	ATP6V0A2	NM_012463.3(ATP6V0A2): c.732-2A> G	single nucleotide variant	Pathogenic	rs80356753	GRCh37	Chromosome 12, 124220076: 124220076
16	ATP6V0A2	NM_012463.3(ATP6V0A2): c.732-2A> G	single nucleotide variant	Pathogenic	rs80356753	GRCh38	Chromosome 12, 123735529: 123735529
17	ATP6V0A2	NM_012463.3(ATP6V0A2): c.839delC (p.Glu281Argfs)	deletion	Pathogenic	rs80356754	GRCh37	Chromosome 12, 124221619: 124221619
18	ATP6V0A2	NM_012463.3(ATP6V0A2): c.839delC (p.Glu281Argfs)	deletion	Pathogenic	rs80356754	GRCh38	Chromosome 12, 123737072: 123737072
19	ATP6V0A2	ATP6V0A2, 7-BP DEL, NT2355	deletion	Pathogenic
20	ATP6V0A2	ATP6V0A2, 1-BP INS, 100A	insertion	Pathogenic
21	ATP6V0A2	NM_012463.3(ATP6V0A2): c.1514+1G> A	single nucleotide variant	Pathogenic	rs374480381	GRCh37	Chromosome 12, 124229332: 124229332
22	ATP6V0A2	NM_012463.3(ATP6V0A2): c.1514+1G> A	single nucleotide variant	Pathogenic	rs374480381	GRCh38	Chromosome 12, 123744785: 123744785
23	ATP6V0A2	NM_012463.3(ATP6V0A2): c.825+2T> C	single nucleotide variant	Pathogenic	rs398124257	GRCh37	Chromosome 12, 124220173: 124220173
24	ATP6V0A2	NM_012463.3(ATP6V0A2): c.825+2T> C	single nucleotide variant	Pathogenic	rs398124257	GRCh38	Chromosome 12, 123735626: 123735626
25	ATP6V0A2	NM_012463.3(ATP6V0A2): c.304C> T (p.Gln102Ter)	single nucleotide variant	Pathogenic	rs794727643	GRCh37	Chromosome 12, 124209210: 124209210
26	ATP6V0A2	NM_012463.3(ATP6V0A2): c.304C> T (p.Gln102Ter)	single nucleotide variant	Pathogenic	rs794727643	GRCh38	Chromosome 12, 123724663: 123724663
27	ATP6V0A2	NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs)	duplication	Pathogenic	rs886043377	GRCh37	Chromosome 12, 124197190: 124197190
28	ATP6V0A2	NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs)	duplication	Pathogenic	rs886043377	GRCh38	Chromosome 12, 123712643: 123712643

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Expression for Atp6v0a2-Related Cutis Laxa

Search GEO for disease gene expression data for Atp6v0a2-Related Cutis Laxa.

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Pathways for Atp6v0a2-Related Cutis Laxa

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GO Terms for Atp6v0a2-Related Cutis Laxa

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Sources for Atp6v0a2-Related Cutis Laxa

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