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

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:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁸

Rare neurological diseases

Rare bone diseases

Rare skin diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

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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

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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
Cutis Laxa, Autosomal Recessive, Type Iie	Autosomal Recessive Cutis Laxa Type Iii
Autosomal Recessive Cutis Laxa Type I	Atp6v0a2-Related Cutis Laxa
Efemp2-Related Cutis Laxa	Eln-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:

(show all 16)

#	Related Disease	Score
1	cutis laxa, autosomal recessive, type iia	11.5
2	cutis laxa, autosomal recessive, type iib	11.0
3	cutis laxa	10.4
4	polymicrogyria	10.3
5	epilepsy	10.3
6	early myoclonic encephalopathy	10.3
7	inguinal hernia	10.3
8	myopia	10.3
9	von willebrand's disease	10.3
10	enterocele	10.3
11	connective tissue disease	10.3
12	hypotonia	10.3
13	cutis laxa, autosomal recessive, type iiia	10.1
14	autosomal recessive cutis laxa type iii	10.1
15	ehlers-danlos syndrome	10.0
16	classic ehlers-danlos syndrome	10.0

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

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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

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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

Organs/tissues related to Atp6v0a2-Related Cutis Laxa:

MalaCards : Skin, Bone, Cortex, Liver, Brain

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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	Morava E...Grunewald S	15657616	2005
2	Review of clinical and molecular variability in autosomal recessive cutis laxa 2A. ⁶² ²⁴	Morlino S...Castori M	33369135	2021
3	ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype. ⁶² ²⁴	Beyens A...Callewaert B	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	Greally MT...Van Maldergem L	24478233	2014
5	Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. ⁵	Fischer B...Kornak U	22773132	2012
6	Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. ⁵	Kornak U...Mundlos S	18157129	2008
7	The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. ²⁴	Stenson PD...Cooper DN	32596782	2020
8	Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. ²⁴	Piard J...Van Maldergem L	29341480	2018
9	Parental influence on human germline de novo mutations in 1,548 trios from Iceland. ²⁴	Jonsson H...Stefansson K	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	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015
11	Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. ²⁴	Gardeitchik T...Morava E	23963297	2014
12	Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. ²⁴	Sousa SB...Moore GE	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	Jones MA...Hegde MR	23806237	2013
14	Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. ²⁴	Guillard M...Wevers RA	19171192	2009
15	RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. ²⁴	Basel-Vanagaite L...Sprecher E	19631308	2009
16	Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. ²⁴	Hucthagowder V...Urban Z	19321599	2009
17	Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. ²⁴	Van Maldergem L...Dobyns WB	18716235	2008
18	Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. ²⁴	Callewaert BL...De Paepe AM	17935213	2008
19	Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. ²⁴	Morava E...Wevers RA	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	Wopereis S...Wevers RA	15955459	2005
21	Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? ²⁴	Al-Gazali LI...Haas D	11424136	2001
22	Electrospray Ionization Mass Spectrometry of Apolipoprotein CIII to Evaluate O-glycan Site Occupancy and Sialylation in Congenital Disorders of Glycosylation. ⁶²	Wada Y...Okamoto N	36060528	2022
23	Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue! ⁶²	Raynor A...Bruneel A	34022244	2021
24	Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up. ⁶²	Bogdanska A...Tylki-Szymanska A	33407696	2021
25	Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies. ⁶²	Haouari W...Bruneel A	32700771	2020
26	Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation. ⁶²	Wada Y	32547898	2020
27	A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing ⁶²	Karacan I...Turanli ET	30474613	2019
28	Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation. ⁶²	Bruneel A...Fenaille F	29869806	2018
29	CCDC115-CDG: A new rare and misleading inherited cause of liver disease. ⁶²	Girard M...Bruneel A	29759592	2018
30	[Clinical and genetic analysis of a patient with cutis laxa]. ⁶²	Zhang P...Chen Q	29419872	2018
31	Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. ⁶²	Kariminejad A...Morava E	28294978	2017
32	Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II. ⁶²	Al Teneiji A...Mercimek-Mahmutoglu S	28122681	2017
33	Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. ⁶²	Cohen R...Straussberg R	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	Yen-Nicolay S...Bruneel A	25641685	2015
35	ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA. ⁶²	Bahena-Bahena D...Martinez-Duncker I	27896089	2014
36	Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. ⁶²	Kouwenberg D...Morava E	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	Zeevaert R...Jaeken J	23430531	2013
38	Metabolic cutis laxa syndromes. ⁶²	Mohamed M...Morava E	21431621	2011
39	De Barsy syndrome and ATP6V0A2-CDG. ⁶²	Leao-Teles E...Jaeken J	20010974	2010
40	ATP6V0A2-Related Cutis Laxa ⁶²	Van Maldergem L...Kornak U	20301755	2009

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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	PubMed IDs
1	ATP6V0A2	ATPase H+ Transporting V0 Subunit A2	Protein Coding	433.17	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Publications (show sections)	15657616 18157129 22773132

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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

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 BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

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⁶ CNVD

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⁹ dbSNP

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²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Atp6v0a2-Related Cutis Laxa

Aliases & Classifications for Atp6v0a2-Related Cutis Laxa

MalaCards integrated aliases for Atp6v0a2-Related Cutis Laxa:

Characteristics:

Inheritance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Atp6v0a2-Related Cutis Laxa

Related Diseases for Atp6v0a2-Related Cutis Laxa

Diseases in the Cutis Laxa family:

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

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

Symptoms & Phenotypes for Atp6v0a2-Related Cutis Laxa

Human phenotypes related to Atp6v0a2-Related Cutis Laxa:

UMLS symptoms related to Atp6v0a2-Related Cutis Laxa:

Drugs & Therapeutics 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:

Publications for Atp6v0a2-Related Cutis Laxa

Articles related to Atp6v0a2-Related Cutis Laxa:

Genes for Atp6v0a2-Related Cutis Laxa

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

Variations for Atp6v0a2-Related Cutis Laxa

ClinVar genetic disease variations for Atp6v0a2-Related Cutis Laxa:

Expression for Atp6v0a2-Related Cutis Laxa

Pathways for Atp6v0a2-Related Cutis Laxa

GO Terms for Atp6v0a2-Related Cutis Laxa

Sources for Atp6v0a2-Related Cutis Laxa