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

MCID: ATP003 MIFTS: 22	Atp6v0a2-Related Cutis Laxa Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Atp6v0a2-Related Cutis Laxa

MalaCards integrated aliases for Atp6v0a2-Related Cutis Laxa:

Name: Atp6v0a2-Related Cutis Laxa ²⁵

Arcl2a ²⁵ ⁵⁴ ⁶⁰

Autosomal Recessive Cutis Laxa Type 2a ²⁵ ⁶⁰

Cutis Laxa with Joint Laxity and Retarded Development ⁵⁴

Cutis Laxa with Growth and Developmental Delay ⁵⁴

Cutis Laxa, Autosomal Recessive, Type Iia ⁷⁴

Cutis Laxa, Autosomal Recessive Type 2a ⁵⁴

Cutis Laxa with Bone Dystrophy ⁵⁴

Cutis Laxa, Debre Type ⁵⁴

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁶⁰

Rare neurological diseases

Rare bone diseases

Rare skin diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³⁵ Q82.8

UMLS via Orphanet ⁷⁵ C0268355

Orphanet ⁶⁰ ORPHA357058

UMLS ⁷⁴ C0268355

Sources

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

Sources

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	12.2
2	cutis laxa, autosomal recessive, type iib	11.1
3	cutis laxa	10.3
4	epilepsy	10.3
5	early myoclonic encephalopathy	10.3
6	polymicrogyria	10.3
7	wrinkly skin syndrome	10.2
8	ehlers-danlos syndrome	10.1

Graphical network of the top 20 diseases related to Atp6v0a2-Related Cutis Laxa:

Sources

Symptoms & Phenotypes for Atp6v0a2-Related Cutis Laxa

UMLS symptoms related to Atp6v0a2-Related Cutis Laxa:

seizures

Sources

Drugs & Therapeutics for Atp6v0a2-Related Cutis Laxa

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

Sources

Genetic Tests for Atp6v0a2-Related Cutis Laxa

Sources

Anatomical Context for Atp6v0a2-Related Cutis Laxa

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

⁴²

Bone, Skin, Eye

Sources

Publications for Atp6v0a2-Related Cutis Laxa

Articles related to Atp6v0a2-Related Cutis Laxa:

#	Title	Authors	Year
1	ATP6V0A2-related cutis laxa in 10 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 MT...Van Maldergem L	2014

Sources

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 Pathogenic/Likely pathogenic ⁶

Sources

Variations for Atp6v0a2-Related Cutis Laxa

ClinVar genetic disease variations for Atp6v0a2-Related Cutis Laxa:

⁶ (show all 39)

#	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/Likely pathogenic	rs80356756	GRCh37	Chromosome 12, 124233326: 124233326
8	ATP6V0A2	NM_012463.3(ATP6V0A2): c.1929delA (p.Gln645Argfs)	deletion	Pathogenic/Likely 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.2302G> A (p.Asp768Asn)	single nucleotide variant	Benign	rs367543008	GRCh37	Chromosome 12, 124241370: 124241370
12	ATP6V0A2	NM_012463.3(ATP6V0A2): c.2302G> A (p.Asp768Asn)	single nucleotide variant	Benign	rs367543008	GRCh38	Chromosome 12, 123756823: 123756823
13	ATP6V0A2	NM_012463.3(ATP6V0A2): c.*115C> T	single nucleotide variant	Benign	rs367543009	GRCh37	Chromosome 12, 124242694: 124242694
14	ATP6V0A2	NM_012463.3(ATP6V0A2): c.*115C> T	single nucleotide variant	Benign	rs367543009	GRCh38	Chromosome 12, 123758147: 123758147
15	ATP6V0A2	NM_012463.3(ATP6V0A2): c.294+1G> A	single nucleotide variant	Pathogenic	rs80356751	GRCh37	Chromosome 12, 124206996: 124206996
16	ATP6V0A2	NM_012463.3(ATP6V0A2): c.294+1G> A	single nucleotide variant	Pathogenic	rs80356751	GRCh38	Chromosome 12, 123722449: 123722449
17	ATP6V0A2	NM_012463.3(ATP6V0A2): c.353_354delTG (p.Leu118Glnfs)	deletion	Pathogenic	rs80356752	GRCh37	Chromosome 12, 124209259: 124209260
18	ATP6V0A2	NM_012463.3(ATP6V0A2): c.353_354delTG (p.Leu118Glnfs)	deletion	Pathogenic	rs80356752	GRCh38	Chromosome 12, 123724712: 123724713
19	ATP6V0A2	NM_012463.3(ATP6V0A2): c.732-2A> G	single nucleotide variant	Pathogenic	rs80356753	GRCh37	Chromosome 12, 124220076: 124220076
20	ATP6V0A2	NM_012463.3(ATP6V0A2): c.732-2A> G	single nucleotide variant	Pathogenic	rs80356753	GRCh38	Chromosome 12, 123735529: 123735529
21	ATP6V0A2	NM_012463.3(ATP6V0A2): c.839delC (p.Glu281Argfs)	deletion	Pathogenic	rs80356754	GRCh37	Chromosome 12, 124221619: 124221619
22	ATP6V0A2	NM_012463.3(ATP6V0A2): c.839delC (p.Glu281Argfs)	deletion	Pathogenic	rs80356754	GRCh38	Chromosome 12, 123737072: 123737072
23	ATP6V0A2	NM_012463.3(ATP6V0A2): c.2356_2362delGGCGTCT (p.Gly786Cysfs)	deletion	Pathogenic		GRCh37	Chromosome 12, 124241424: 124241430
24	ATP6V0A2	NM_012463.3(ATP6V0A2): c.2356_2362delGGCGTCT (p.Gly786Cysfs)	deletion	Pathogenic		GRCh38	Chromosome 12, 123756877: 123756883
25	ATP6V0A2	ATP6V0A2, 1-BP INS, 100A	insertion	Pathogenic
26	ATP6V0A2	NM_012463.3(ATP6V0A2): c.1514+1G> A	single nucleotide variant	Pathogenic	rs374480381	GRCh37	Chromosome 12, 124229332: 124229332
27	ATP6V0A2	NM_012463.3(ATP6V0A2): c.1514+1G> A	single nucleotide variant	Pathogenic	rs374480381	GRCh38	Chromosome 12, 123744785: 123744785
28	ATP6V0A2	NM_012463.3(ATP6V0A2): c.825+2T> C	single nucleotide variant	Pathogenic	rs398124257	GRCh37	Chromosome 12, 124220173: 124220173
29	ATP6V0A2	NM_012463.3(ATP6V0A2): c.825+2T> C	single nucleotide variant	Pathogenic	rs398124257	GRCh38	Chromosome 12, 123735626: 123735626
30	ATP6V0A2	NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs)	duplication	Pathogenic	rs745590426	GRCh37	Chromosome 12, 124197190: 124197190
31	ATP6V0A2	NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs)	duplication	Pathogenic	rs745590426	GRCh38	Chromosome 12, 123712643: 123712643
32	ATP6V0A2	NM_012463.3(ATP6V0A2): c.309G> T (p.Lys103Asn)	single nucleotide variant	Uncertain significance	rs144499089	GRCh37	Chromosome 12, 124209215: 124209215
33	ATP6V0A2	NM_012463.3(ATP6V0A2): c.309G> T (p.Lys103Asn)	single nucleotide variant	Uncertain significance	rs144499089	GRCh38	Chromosome 12, 123724668: 123724668
34	ATP6V0A2	NM_012463.3(ATP6V0A2): c.614C> T (p.Ala205Val)	single nucleotide variant	Uncertain significance	rs143802431	GRCh37	Chromosome 12, 124212422: 124212422
35	ATP6V0A2	NM_012463.3(ATP6V0A2): c.614C> T (p.Ala205Val)	single nucleotide variant	Uncertain significance	rs143802431	GRCh38	Chromosome 12, 123727875: 123727875
36	ATP6V0A2	NM_012463.3(ATP6V0A2): c.422G> T (p.Arg141Leu)	single nucleotide variant	Uncertain significance	rs143509747	GRCh37	Chromosome 12, 124209328: 124209328
37	ATP6V0A2	NM_012463.3(ATP6V0A2): c.422G> T (p.Arg141Leu)	single nucleotide variant	Uncertain significance	rs143509747	GRCh38	Chromosome 12, 123724781: 123724781
38	ATP6V0A2	NM_012463.3(ATP6V0A2): c.1018C> T (p.Arg340Trp)	single nucleotide variant	Uncertain significance	rs781305219	GRCh37	Chromosome 12, 124221798: 124221798
39	ATP6V0A2	NM_012463.3(ATP6V0A2): c.1018C> T (p.Arg340Trp)	single nucleotide variant	Uncertain significance	rs781305219	GRCh38	Chromosome 12, 123737251: 123737251

Sources

Expression for Atp6v0a2-Related Cutis Laxa

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

Sources

Pathways for Atp6v0a2-Related Cutis Laxa

Sources

GO Terms for Atp6v0a2-Related Cutis Laxa

Sources

Sources for Atp6v0a2-Related Cutis Laxa

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia