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

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:



External Ids:

ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C0268355
Orphanet 60 ORPHA357058
UMLS 74 C0268355

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

Related Diseases for Atp6v0a2-Related Cutis Laxa

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



Diseases related to Atp6v0a2-Related Cutis Laxa

Symptoms & Phenotypes for Atp6v0a2-Related Cutis Laxa

UMLS symptoms related to Atp6v0a2-Related Cutis Laxa:


seizures

Drugs & Therapeutics for Atp6v0a2-Related Cutis Laxa

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

Genetic Tests for Atp6v0a2-Related Cutis Laxa

Anatomical Context for Atp6v0a2-Related Cutis Laxa

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

42
Bone, Skin, Eye

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 )
2018
2
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. ( 27631729 )
2016
3
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. ( 24478233 )
2014

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

Expression for Atp6v0a2-Related Cutis Laxa

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

Pathways for Atp6v0a2-Related Cutis Laxa

GO Terms for Atp6v0a2-Related Cutis Laxa

Sources for Atp6v0a2-Related Cutis Laxa

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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