MCID: ATP003
MIFTS: 35

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, Respiratory diseases, Skin diseases
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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
Autosomal Recessive Cutis Laxa Type 2a 24 58 5
Arcl2a 24 58
Cutis Laxa, Autosomal Recessive, Type Iia 71
Atp6v0a2-Cdg 24

Characteristics:


Inheritance:

Autosomal Recessive Cutis Laxa Type 2a: Autosomal recessive 58

Age Of Onset:

Autosomal Recessive Cutis Laxa Type 2a: Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Atp6v0a2-Related Cutis Laxa

Orphanet: 58 A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.

MalaCards based summary: Atp6v0a2-Related Cutis Laxa, also known as autosomal recessive cutis laxa type 2a, 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 skin, bone and cortex, and related phenotypes are intellectual disability and joint hypermobility

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

Human phenotypes related to Atp6v0a2-Related Cutis Laxa:

58 30 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 joint hypermobility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001382
3 excessive wrinkled skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007392
4 high myopia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011003
5 persistent open anterior fontanelle 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004474
6 progeroid facial appearance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005328
7 abnormal isoelectric focusing of serum transferrin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003160
8 abnormal cutaneous elastic fiber morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0025082
9 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001252
10 developmental regression 58 30 Frequent (33%) Frequent (79-30%)
HP:0002376
11 inguinal hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000023
12 pes planus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001763
13 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
14 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
15 postnatal growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0008897
16 downslanted palpebral fissures 58 30 Frequent (33%) Frequent (79-30%)
HP:0000494
17 prominent nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000426
18 severe global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0011344
19 wide anterior fontanel 58 30 Frequent (33%) Frequent (79-30%)
HP:0000260
20 pachygyria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001302
21 thick hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0100874
22 generalized-onset seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002197
23 focal impaired awareness seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002384
24 prominent nasolabial fold 58 30 Frequent (33%) Frequent (79-30%)
HP:0005272
25 thick cerebral cortex 58 30 Frequent (33%) Frequent (79-30%)
HP:0006891
26 secondary microcephaly 30 Frequent (33%) HP:0005484
27 primary microcephaly 30 Frequent (33%) HP:0011451
28 spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001257
29 frontal bossing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002007
30 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
31 slurred speech 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001350
32 congenital hip dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001374
33 dandy-walker malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001305
34 long philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000343
35 dystonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001332
36 blue sclerae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000592
37 abnormal bleeding 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001892
38 athetosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002305
39 inability to walk 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002540
40 dysplastic corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006989
41 hearing impairment 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000365
42 increased susceptibility to fractures 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002659
43 abnormal cornea morphology 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000481
44 seizure 58 Occasional (29-5%)
45 global developmental delay 58 Very frequent (99-80%)
46 corneal opacity 58 Excluded (0%)
47 hyperextensible skin 58 Excluded (0%)
48 delayed cranial suture closure 58 Frequent (79-30%)
49 cerebellar vermis hypoplasia 58 Occasional (29-5%)
50 postnatal microcephaly 58 Frequent (79-30%)

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

Organs/tissues related to Atp6v0a2-Related Cutis Laxa:

MalaCards : Skin, Bone, Cortex, Liver, Brain

Publications for Atp6v0a2-Related Cutis Laxa

Articles related to Atp6v0a2-Related Cutis Laxa:

(show all 40)
# Title Authors PMID Year
1
Defective protein glycosylation in patients with cutis laxa syndrome. 24 5
15657616 2005
2
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A. 62 24
33369135 2021
3
ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype. 62 24
29952037 2019
4
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. 62 24
24478233 2014
5
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. 5
22773132 2012
6
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 5
18157129 2008
7
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. 24
32596782 2020
8
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. 24
29341480 2018
9
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
10
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
11
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. 24
23963297 2014
12
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. 24
24241535 2014
13
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing. 24
23806237 2013
14
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. 24
19171192 2009
15
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. 24
19631308 2009
16
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. 24
19321599 2009
17
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. 24
18716235 2008
18
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 24
17935213 2008
19
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. 24
17971833 2008
20
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. 24
15955459 2005
21
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? 24
11424136 2001
22
Electrospray Ionization Mass Spectrometry of Apolipoprotein CIII to Evaluate O-glycan Site Occupancy and Sialylation in Congenital Disorders of Glycosylation. 62
36060528 2022
23
Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue! 62
34022244 2021
24
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up. 62
33407696 2021
25
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies. 62
32700771 2020
26
Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation. 62
32547898 2020
27
A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing 62
30474613 2019
28
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation. 62
29869806 2018
29
CCDC115-CDG: A new rare and misleading inherited cause of liver disease. 62
29759592 2018
30
[Clinical and genetic analysis of a patient with cutis laxa]. 62
29419872 2018
31
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. 62
28294978 2017
32
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II. 62
28122681 2017
33
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. 62
27631729 2016
34
MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis. 62
25641685 2015
35
ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA. 62
27896089 2014
36
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. 62
24555185 2014
37
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165. 62
23430531 2013
38
Metabolic cutis laxa syndromes. 62
21431621 2011
39
De Barsy syndrome and ATP6V0A2-CDG. 62
20010974 2010
40
ATP6V0A2-Related Cutis Laxa 62
20301755 2009

Variations for Atp6v0a2-Related Cutis Laxa

ClinVar genetic disease variations for Atp6v0a2-Related Cutis Laxa:

5 (show top 50) (show all 167)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) DEL Pathogenic
39452 rs1566294545 GRCh37: 12:124241423-124241429
GRCh38: 12:123756876-123756882
2 ATP6V0A2 ATP6V0A2, 1-BP INS, 100A INSERT Pathogenic
39453 GRCh37:
GRCh38:
3 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2176-3_2176-2del DEL Pathogenic
21496 rs367543007 GRCh37: 12:124238964-124238965
GRCh38: 12:123754417-123754418
4 ATP6V0A2 NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) DEL Pathogenic
996059 rs1956462432 GRCh37: 12:124212342-124212342
GRCh38: 12:123727795-123727795
5 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) DEL Pathogenic
996063 rs1956563926 GRCh37: 12:124221782-124221782
GRCh38: 12:123737235-123737235
6 ATP6V0A2 NM_012463.4(ATP6V0A2):c.294+1G>A SNV Pathogenic
21499 rs80356751 GRCh37: 12:124206996-124206996
GRCh38: 12:123722449-123722449
7 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) SNV Pathogenic
844 rs80356758 GRCh37: 12:124239084-124239084
GRCh38: 12:123754537-123754537
8 ATP6V0A2 NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) SNV Pathogenic
845 rs80356750 GRCh37: 12:124203239-124203239
GRCh38: 12:123718692-123718692
9 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) DEL Likely Pathogenic
21495 rs80356756 GRCh37: 12:124233326-124233326
GRCh38: 12:123748779-123748779
10 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) SNV Uncertain Significance
307595 rs144946016 GRCh37: 12:124236846-124236846
GRCh38: 12:123752299-123752299
11 ATP6V0A2 NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) SNV Uncertain Significance
Uncertain Significance
307580 rs143802431 GRCh37: 12:124212422-124212422
GRCh38: 12:123727875-123727875
12 ATP6V0A2 NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) SNV Uncertain Significance
307579 rs563333869 GRCh37: 12:124209218-124209218
GRCh38: 12:123724671-123724671
13 ATP6V0A2 NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) SNV Uncertain Significance
307582 rs571403150 GRCh37: 12:124220140-124220140
GRCh38: 12:123735593-123735593
14 ATP6V0A2 NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) SNV Uncertain Significance
Uncertain Significance
307578 rs144499089 GRCh37: 12:124209215-124209215
GRCh38: 12:123724668-123724668
15 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) SNV Uncertain Significance
307586 rs372416067 GRCh37: 12:124228389-124228389
GRCh38: 12:123743842-123743842
16 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) SNV Uncertain Significance
533136 rs774276857 GRCh37: 12:124241407-124241407
GRCh38: 12:123756860-123756860
17 ATP6V0A2 NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) SNV Uncertain Significance
883835 rs747354658 GRCh37: 12:124210751-124210751
GRCh38: 12:123726204-123726204
18 ATP6V0A2 NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) SNV Uncertain Significance
676662 rs140835376 GRCh37: 12:124210758-124210758
GRCh38: 12:123726211-123726211
19 ATP6V0A2 NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) SNV Uncertain Significance
78884 rs181112338 GRCh37: 12:124212411-124212411
GRCh38: 12:123727864-123727864
20 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) SNV Uncertain Significance
1034405 rs199698721 GRCh37: 12:124228405-124228405
GRCh38: 12:123743858-123743858
21 ATP6V0A2 NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) SNV Uncertain Significance
Uncertain Significance
390767 rs143509747 GRCh37: 12:124209328-124209328
GRCh38: 12:123724781-123724781
22 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) SNV Uncertain Significance
872301 rs777130500 GRCh37: 12:124236890-124236890
GRCh38: 12:123752343-123752343
23 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) SNV Uncertain Significance
210384 rs138886791 GRCh37: 12:124239029-124239029
GRCh38: 12:123754482-123754482
24 ATP6V0A2 NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) SNV Uncertain Significance
425021 rs752689489 GRCh37: 12:124197138-124197138
GRCh38: 12:123712591-123712591
25 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr) SNV Uncertain Significance
1698977 GRCh37: 12:124241509-124241509
GRCh38: 12:123756962-123756962
26 ATP6V0A2 NM_012463.4(ATP6V0A2):c.522-9G>A SNV Uncertain Significance
284399 rs189175284 GRCh37: 12:124212321-124212321
GRCh38: 12:123727774-123727774
27 ATP6V0A2 NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) SNV Uncertain Significance
880544 rs201247720 GRCh37: 12:124220137-124220137
GRCh38: 12:123735590-123735590
28 ATP6V0A2 NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) SNV Uncertain Significance
307583 rs367873118 GRCh37: 12:124221773-124221773
GRCh38: 12:123737226-123737226
29 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) SNV Uncertain Significance
284751 rs149700024 GRCh37: 12:124233163-124233163
GRCh38: 12:123748616-123748616
30 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3684C>T SNV Uncertain Significance
884117 rs1051636200 GRCh37: 12:124246263-124246263
GRCh38: 12:123761716-123761716
31 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3707A>G SNV Uncertain Significance
884118 rs1203316393 GRCh37: 12:124246286-124246286
GRCh38: 12:123761739-123761739
32 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) SNV Uncertain Significance
307587 rs371908109 GRCh37: 12:124229479-124229479
GRCh38: 12:123744932-123744932
33 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) SNV Uncertain Significance
499896 rs768609186 GRCh37: 12:124241406-124241406
GRCh38: 12:123756859-123756859
34 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys) SNV Uncertain Significance
1098631 GRCh37: 12:124235753-124235753
GRCh38: 12:123751206-123751206
35 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3368T>G SNV Uncertain Significance
882410 rs1956822109 GRCh37: 12:124245947-124245947
GRCh38: 12:123761400-123761400
36 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) SNV Uncertain Significance
883132 rs985944979 GRCh37: 12:124228881-124228881
GRCh38: 12:123744334-123744334
37 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) SNV Uncertain Significance
194085 rs532258057 GRCh37: 12:124229247-124229247
GRCh38: 12:123744700-123744700
38 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1515-12T>G SNV Uncertain Significance
883134 rs201512900 GRCh37: 12:124229417-124229417
GRCh38: 12:123744870-123744870
39 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu) SNV Uncertain Significance
883191 rs775425809 GRCh37: 12:124242555-124242555
GRCh38: 12:123758008-123758008
40 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*63C>T SNV Uncertain Significance
883192 rs576086591 GRCh37: 12:124242642-124242642
GRCh38: 12:123758095-123758095
41 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3262G>A SNV Uncertain Significance
882408 rs1593929112 GRCh37: 12:124245841-124245841
GRCh38: 12:123761294-123761294
42 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1803C>T SNV Uncertain Significance
883247 rs117646592 GRCh37: 12:124244382-124244382
GRCh38: 12:123759835-123759835
43 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1950G>A SNV Uncertain Significance
883249 rs1956794312 GRCh37: 12:124244529-124244529
GRCh38: 12:123759982-123759982
44 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*575G>A SNV Uncertain Significance
883986 rs996318859 GRCh37: 12:124243154-124243154
GRCh38: 12:123758607-123758607
45 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*643C>T SNV Uncertain Significance
883987 rs377386130 GRCh37: 12:124243222-124243222
GRCh38: 12:123758675-123758675
46 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*706T>G SNV Uncertain Significance
883988 rs1288578795 GRCh37: 12:124243285-124243285
GRCh38: 12:123758738-123758738
47 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*742G>A SNV Uncertain Significance
883989 rs964496583 GRCh37: 12:124243321-124243321
GRCh38: 12:123758774-123758774
48 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2090C>T SNV Uncertain Significance
884054 rs772018611 GRCh37: 12:124244669-124244669
GRCh38: 12:123760122-123760122
49 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*191T>C SNV Uncertain Significance
307601 rs150408179 GRCh37: 12:124242770-124242770
GRCh38: 12:123758223-123758223
50 ATP6V0A2 NM_012463.4(ATP6V0A2):c.-148C>T SNV Uncertain Significance
307575 rs886049059 GRCh37: 12:124196965-124196965
GRCh38: 12:123712418-123712418

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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