MCID: ATP003
MIFTS: 32

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

Aliases & Classifications for Atp6v0a2-Related Cutis Laxa

MalaCards integrated aliases for Atp6v0a2-Related Cutis Laxa:

Name: Atp6v0a2-Related Cutis Laxa 25 6
Autosomal Recessive Cutis Laxa Type 2a 25 58
Arcl2a 25 58
Cutis Laxa, Autosomal Recessive, Type Iia 70
Atp6v0a2-Cdg 25

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

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 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 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 joint hypermobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001382
3 persistent open anterior fontanelle 58 31 hallmark (90%) Very frequent (99-80%) HP:0004474
4 excessive wrinkled skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0007392
5 high myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011003
6 progeroid facial appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0005328
7 abnormal isoelectric focusing of serum transferrin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003160
8 abnormal cutaneous elastic fiber morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0025082
9 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
10 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
11 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
12 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
13 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
14 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
15 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
16 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
17 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
18 wide anterior fontanel 58 31 frequent (33%) Frequent (79-30%) HP:0000260
19 pachygyria 58 31 frequent (33%) Frequent (79-30%) HP:0001302
20 focal impaired awareness seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002384
21 thick hair 58 31 frequent (33%) Frequent (79-30%) HP:0100874
22 postnatal microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0005484
23 generalized-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002197
24 prominent nasolabial fold 58 31 frequent (33%) Frequent (79-30%) HP:0005272
25 congenital microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0011451
26 thick cerebral cortex 58 31 frequent (33%) Frequent (79-30%) HP:0006891
27 hypotonia 31 frequent (33%) HP:0001252
28 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
29 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
30 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
31 slurred speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001350
32 congenital hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001374
33 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
34 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
35 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
36 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
37 abnormal bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0001892
38 athetosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002305
39 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
40 dysplastic corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0006989
41 hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000365
42 increased susceptibility to fractures 58 31 very rare (1%) Very rare (<4-1%) HP:0002659
43 abnormal cornea morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0000481
44 seizures 58 Occasional (29-5%)
45 muscular hypotonia 58 Frequent (79-30%)
46 global developmental delay 58 Very frequent (99-80%)
47 corneal opacity 58 Excluded (0%)
48 hyperextensible skin 58 Excluded (0%)
49 delayed cranial suture closure 58 Frequent (79-30%)
50 cerebellar vermis hypoplasia 58 Occasional (29-5%)

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:

40
Cortex

Publications for Atp6v0a2-Related Cutis Laxa

Articles related to Atp6v0a2-Related Cutis Laxa:

(show all 23)
# Title Authors PMID Year
1
Defective protein glycosylation in patients with cutis laxa syndrome. 6 25
15657616 2005
2
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A. 25 61
33369135 2021
3
ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype. 25 61
29952037 2019
4
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. 25 61
24478233 2014
5
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. 6
22773132 2012
6
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 6
18157129 2008
7
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. 25
29341480 2018
8
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
9
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
10
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. 25
23963297 2014
11
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. 25
24241535 2014
12
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing. 25
23806237 2013
13
Arterial tortuosity syndrome: case report. 25
23431747 2012
14
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. 25
19171192 2009
15
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. 25
19631308 2009
16
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. 25
19321599 2009
17
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. 25
18716235 2008
18
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. 25
17971833 2008
19
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. 25
15955459 2005
20
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? 25
11424136 2001
21
[Clinical and genetic analysis of a patient with cutis laxa]. 61
29419872 2018
22
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. 61
27631729 2016
23
ATP6V0A2-Related Cutis Laxa 61
20301755 2009

Variations for Atp6v0a2-Related Cutis Laxa

ClinVar genetic disease variations for Atp6v0a2-Related Cutis Laxa:

6 (show top 50) (show all 165)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) SNV Pathogenic 844 rs80356758 GRCh37: 12:124239084-124239084
GRCh38: 12:123754537-123754537
2 ATP6V0A2 NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) SNV Pathogenic 845 rs80356750 GRCh37: 12:124203239-124203239
GRCh38: 12:123718692-123718692
3 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter) SNV Pathogenic 21494 rs80356755 GRCh37: 12:124228882-124228882
GRCh38: 12:123744335-123744335
4 ATP6V0A2 NM_012463.4(ATP6V0A2):c.732-2A>G SNV Pathogenic 21501 rs80356753 GRCh37: 12:124220076-124220076
GRCh38: 12:123735529-123735529
5 ATP6V0A2 NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs) Deletion Pathogenic 21502 rs80356754 GRCh37: 12:124221619-124221619
GRCh38: 12:123737072-123737072
6 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) Deletion Pathogenic 39452 rs1566294545 GRCh37: 12:124241423-124241429
GRCh38: 12:123756876-123756882
7 ATP6V0A2 ATP6V0A2, 1-BP INS, 100A Insertion Pathogenic 39453 GRCh37:
GRCh38:
8 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2176-3_2176-2del Deletion Pathogenic 21496 rs367543007 GRCh37: 12:124238964-124238965
GRCh38: 12:123754417-123754418
9 ATP6V0A2 NM_012463.4(ATP6V0A2):c.294+1G>A SNV Pathogenic 21499 rs80356751 GRCh37: 12:124206996-124206996
GRCh38: 12:123722449-123722449
10 ATP6V0A2 NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) Deletion Pathogenic 996059 GRCh37: 12:124212342-124212342
GRCh38: 12:123727795-123727795
11 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) Deletion Pathogenic 996063 GRCh37: 12:124221782-124221782
GRCh38: 12:123737235-123737235
12 ATP6V0A2 NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) Deletion Pathogenic 21500 rs80356752 GRCh37: 12:124209259-124209260
GRCh38: 12:123724712-123724713
13 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) Deletion Pathogenic/Likely pathogenic 21495 rs80356756 GRCh37: 12:124233326-124233326
GRCh38: 12:123748779-123748779
14 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1599C>T SNV Uncertain significance 307614 rs534414817 GRCh37: 12:124244178-124244178
GRCh38: 12:123759631-123759631
15 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=) SNV Uncertain significance 307598 rs535703391 GRCh37: 12:124242513-124242513
GRCh38: 12:123757966-123757966
16 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val) SNV Uncertain significance 307596 rs886049062 GRCh37: 12:124239064-124239064
GRCh38: 12:123754517-123754517
17 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3159G>A SNV Uncertain significance 307637 rs539564846 GRCh37: 12:124245738-124245738
GRCh38: 12:123761191-123761191
18 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) SNV Uncertain significance 307584 rs147411055 GRCh37: 12:124221818-124221818
GRCh38: 12:123737271-123737271
19 ATP6V0A2 NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) SNV Uncertain significance 307582 rs571403150 GRCh37: 12:124220140-124220140
GRCh38: 12:123735593-123735593
20 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1681G>A SNV Uncertain significance 307617 rs575925916 GRCh37: 12:124244260-124244260
GRCh38: 12:123759713-123759713
21 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1828C>G SNV Uncertain significance 307620 rs886049068 GRCh37: 12:124244407-124244407
GRCh38: 12:123759860-123759860
22 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) SNV Uncertain significance 307587 rs371908109 GRCh37: 12:124229479-124229479
GRCh38: 12:123744932-123744932
23 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3665T>G SNV Uncertain significance 307646 rs2651 GRCh37: 12:124246244-124246244
GRCh38: 12:123761697-123761697
24 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2198C>T SNV Uncertain significance 307626 rs886049073 GRCh37: 12:124244777-124244777
GRCh38: 12:123760230-123760230
25 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3505A>G SNV Uncertain significance 307643 rs868846588 GRCh37: 12:124246084-124246084
GRCh38: 12:123761537-123761537
26 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*577C>T SNV Uncertain significance 307606 rs577796265 GRCh37: 12:124243156-124243156
GRCh38: 12:123758609-123758609
27 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*434T>A SNV Uncertain significance 307603 rs886049065 GRCh37: 12:124243013-124243013
GRCh38: 12:123758466-123758466
28 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2454T>C SNV Uncertain significance 307629 rs776825961 GRCh37: 12:124245033-124245033
GRCh38: 12:123760486-123760486
29 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1252A>G SNV Uncertain significance 307612 rs141136421 GRCh37: 12:124243831-124243831
GRCh38: 12:123759284-123759284
30 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) SNV Uncertain significance 307595 rs144946016 GRCh37: 12:124236846-124236846
GRCh38: 12:123752299-123752299
31 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2833A>T SNV Uncertain significance 307632 rs117111955 GRCh37: 12:124245412-124245412
GRCh38: 12:123760865-123760865
32 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1820A>G (p.Tyr607Cys) SNV Uncertain significance 307592 rs886049061 GRCh37: 12:124233217-124233217
GRCh38: 12:123748670-123748670
33 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu) SNV Uncertain significance 307599 rs769901746 GRCh37: 12:124242550-124242550
GRCh38: 12:123758003-123758003
34 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) SNV Uncertain significance 307597 rs762614200 GRCh37: 12:124241401-124241401
GRCh38: 12:123756854-123756854
35 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3269A>G SNV Uncertain significance 307641 rs567165258 GRCh37: 12:124245848-124245848
GRCh38: 12:123761301-123761301
36 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2039C>G SNV Uncertain significance 307621 rs886049069 GRCh37: 12:124244618-124244618
GRCh38: 12:123760071-123760071
37 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3166C>T SNV Uncertain significance 307638 rs777687879 GRCh37: 12:124245745-124245745
GRCh38: 12:123761198-123761198
38 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*191T>C SNV Uncertain significance 307601 rs150408179 GRCh37: 12:124242770-124242770
GRCh38: 12:123758223-123758223
39 ATP6V0A2 NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) SNV Uncertain significance 307579 rs563333869 GRCh37: 12:124209218-124209218
GRCh38: 12:123724671-123724671
40 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*271A>G SNV Uncertain significance 307602 rs886049064 GRCh37: 12:124242850-124242850
GRCh38: 12:123758303-123758303
41 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1799A>C SNV Uncertain significance 307619 rs755729836 GRCh37: 12:124244378-124244378
GRCh38: 12:123759831-123759831
42 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2161C>G SNV Uncertain significance 307624 rs886049071 GRCh37: 12:124244740-124244740
GRCh38: 12:123760193-123760193
43 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*709C>T SNV Uncertain significance 307607 rs547048918 GRCh37: 12:124243288-124243288
GRCh38: 12:123758741-123758741
44 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*564T>C SNV Uncertain significance 307604 rs886049066 GRCh37: 12:124243143-124243143
GRCh38: 12:123758596-123758596
45 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1454A>G SNV Uncertain significance 307613 rs3748272 GRCh37: 12:124244033-124244033
GRCh38: 12:123759486-123759486
46 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1680C>T SNV Uncertain significance 307616 rs886049067 GRCh37: 12:124244259-124244259
GRCh38: 12:123759712-123759712
47 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3042T>G SNV Uncertain significance 307636 rs886049076 GRCh37: 12:124245621-124245621
GRCh38: 12:123761074-123761074
48 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1789A>G (p.Ile597Val) SNV Uncertain significance 307591 rs757775762 GRCh37: 12:124233186-124233186
GRCh38: 12:123748639-123748639
49 ATP6V0A2 NM_012463.4(ATP6V0A2):c.522-9G>A SNV Uncertain significance 284399 rs189175284 GRCh37: 12:124212321-124212321
GRCh38: 12:123727774-123727774
50 ATP6V0A2 NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln) SNV Uncertain significance 880542 GRCh37: 12:124220122-124220122
GRCh38: 12:123735575-123735575

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....