Entry Search - 219200 278250 611716 - OMIM
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Search: '219200 278250 611716 (Search in: MIM number)'
Results: 3 entries.

1:
* 611716. ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2
Cytogenetic location: 12q24.31, Genomic coordinates (GRCh38): 12:123,712,353-123,761,755
Matching terms: 611716
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
12q24.31 Cutis laxa, autosomal recessive, type IIA 219200 AR 3
Wrinkly skin syndrome 278250 AR 3
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ICD+
SNOMEDCT: 238875009, 784381008
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2:
# 219200. CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A
Cytogenetic location: 12q24.31
Matching terms: 219200
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12q24.31 Cutis laxa, autosomal recessive, type IIA 219200 AR 3 ATP6V0A2 611716
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Cutis laxa - PS123700 - 14 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2p22.3 Cutis laxa, autosomal recessive, type IIE AR 3 619451 LTBP1 150390
2p16.1 Cutis laxa, autosomal recessive, type ID AR 3 620780 EFEMP1 601548
3q13.31 Cutis laxa, autosomal recessive, type IID AR 3 617403 ATP6V1A 607027
7q11.23 Cutis laxa, autosomal dominant AD 3 123700 ELN 130160
10q24.1 Cutis laxa, autosomal recessive, type IIIA AR 3 219150 ALDH18A1 138250
10q24.1 Cutis laxa, autosomal dominant 3 AD 3 616603 ALDH18A1 138250
11q13.1 Cutis laxa, autosomal recessive, type IB AR 3 614437 EFEMP2 604633
12q24.31 Cutis laxa, autosomal recessive, type IIA AR 3 219200 ATP6V0A2 611716
14q32.12 ?Cutis laxa, autosomal dominant 2 AD 3 614434 FBLN5 604580
14q32.12 Cutis laxa, autosomal recessive, type IA AR 3 219100 FBLN5 604580
17q25.3 Cutis laxa, autosomal recessive, type IIIB AR 3 614438 PYCR1 179035
17q25.3 Cutis laxa, autosomal recessive, type IIB AR 3 612940 PYCR1 179035
19q13.2 Cutis laxa, autosomal recessive, type IC AR 3 613177 LTBP4 604710
22q11.21 Cutis laxa, autosomal recessive, type IIC AR 3 617402 ATP6V1E1 108746
Congenital disorders of glycosylation, type I - PS212065 - 29 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.12 Congenital disorder of glycosylation, type Ir AR 3 614507 DDOST 602202
1p36.11 Retinitis pigmentosa 59 AR 3 613861 DHDDS 608172
1p36.11 ?Congenital disorder of glycosylation, type 1bb AR 3 613861 DHDDS 608172
1p31.3 Congenital disorder of glycosylation, type Ic AR 3 603147 ALG6 604566
1p31.3 Congenital disorder of glycosylation, type It AR 3 614921 PGM1 171900
1q22 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 AR 3 612937 DPM3 605951
3p23 Congenital disorder of glycosylation, type Ix AR 3 615597 STT3B 608605
3p21.1 Congenital disorder of glycosylation, type In AR 3 612015 RFT1 611908
3q27.1 Congenital disorder of glycosylation, type Id AR 3 601110 ALG3 608750
4q12 Congenital disorder of glycosylation, type Iq AR 3 612379 SRD5A3 611715
6q22.1 ?Congenital disorder of glycosylation, type 1aa AR 3 617082 NUS1 610463
9q22.33 Congenital disorder of glycosylation, type Ii AR 3 607906 ALG2 607905
9q34.11 Congenital disorder of glycosylation, type Iu AR 3 615042 DPM2 603564
9q34.11 Congenital disorder of glycosylation, type Im AR 3 610768 DOLK 610746
11q14.1 Congenital disorder of glycosylation, type Ih AR 3 608104 ALG8 608103
11q23.1 Congenital disorder of glycosylation, type Il AR 3 608776 ALG9 606941
11q23.3 Congenital disorder of glycosylation, type Ij AR 3 608093 DPAGT1 191350
11q24.2 Congenital disorder of glycosylation, type Iw, autosomal recessive AR 3 615596 STT3A 601134
12q24.31 Cutis laxa, autosomal recessive, type IIA AR 3 219200 ATP6V0A2 611716
13q14.3 Congenital disorder of glycosylation, type Ip AR 3 613661 ALG11 613666
15q24.1-q24.2 Congenital disorder of glycosylation, type Ib AR 3 602579 MPI 154550
16p13.3 Congenital disorder of glycosylation, type Ik AR 3 608540 ALG1 605907
16p13.2 Congenital disorder of glycosylation, type Ia AR 3 212065 PMM2 601785
17p13.1 Congenital disorder of glycosylation, type If AR 3 609180 MPDU1 604041
20q13.13 Congenital disorder of glycosylation, type Ie AR 3 608799 DPM1 603503
22q13.33 Congenital disorder of glycosylation, type Ig AR 3 607143 ALG12 607144
Xq21.1 Congenital disorder of glycosylation, type Icc XLR 3 301031 MAGT1 300715
Xq23 Developmental and epileptic encephalopathy 36 XL 3 300884 ALG13 300776
Xq28 Congenital disorder of glycosylation, type Iy XLR 3 300934 SSR4 300090
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ICD+
SNOMEDCT: 784381008
ORPHA: 357058, 357074
DO: 0070134
▲ Close

3:
# 278250. WRINKLY SKIN SYNDROME; WSS
Cytogenetic location: 12q24.31
Matching terms: 278250
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12q24.31 Wrinkly skin syndrome 278250 AR 3 ATP6V0A2 611716
▲ Close
ICD+
SNOMEDCT: 238875009
ORPHA: 2834, 357058
DO: 0112171
▲ Close
Search: 219200 278250 611716 (Search in: MIM number)
Results: 3 entries.

1:
* 611716. ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2
Cytogenetic location: 12q24.31, Genomic coordinates (GRCh38): 12:123,712,353-123,761,755
Matching terms: 611716

2:
# 219200. CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A
Cytogenetic location: 12q24.31
Matching terms: 219200

3:
# 278250. WRINKLY SKIN SYNDROME; WSS
Cytogenetic location: 12q24.31
Matching terms: 278250


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025