Phenotype: Excessive wrinkled skin (HP:0007392)
Associated genes and diseases:
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: SMARCA2
disease_id: ORPHA:3051
disease_name: Nicolaides-Baraitser syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
gene_symbol: COG7
disease_id: OMIM:608779
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe
gene_symbol: COG7
disease_id: ORPHA:79333
disease_name: COG7-CDG
CDG syndrome type IIe
CDG-IIe
CDG2E
Carbohydrate deficient glycoprotein syndrome type IIe
Congenital disorder of glycosylation type 2e
Congenital disorder of glycosylation type IIe
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
gene_symbol: COL3A1
disease_id: ORPHA:2500
disease_name: Acrogeria
Acrogeria, Gottron type
Acrometageria
Gottron syndrome
gene_symbol: PIK3R1
disease_id: ORPHA:3163
disease_name: SHORT syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
gene_symbol: ATP6V0A2
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: ATP6V0A2
disease_id: OMIM:219200
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA
gene_symbol: ATP6V1A
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: ATP6V1E1
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: FGFR3
disease_id: ORPHA:1860
disease_name: Thanatophoric dysplasia type 1
TD1
Thanatophoric dwarfism type 1
gene_symbol: PYCR1
disease_id: OMIM:612940
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
gene_symbol: PYCR1
disease_id: OMIM:614438
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: MAP2K2
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: KRAS
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: BRAF
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: ENPP1
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: ABCC6
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: ADAMTSL2
disease_id: ORPHA:1901
disease_name: Dermatosparaxis Ehlers-Danlos syndrome
Dermatosparaxis EDS
Ehlers-Danlos syndrome type 7C
Human dermatosparaxis EDS VIIC
dEDS
gene_symbol: ADAMTS2
disease_id: ORPHA:1901
disease_name: Dermatosparaxis Ehlers-Danlos syndrome
Dermatosparaxis EDS
Ehlers-Danlos syndrome type 7C
Human dermatosparaxis EDS VIIC
dEDS
gene_symbol: RTEL1
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: ACD
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: PARN
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: TERT
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: TINF2
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: DKC1
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: PTPN11
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: RAF1
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: PTEN
disease_id: ORPHA:137608
disease_name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
SOLAMEN syndrome
gene_symbol: TWIST2
disease_id: ORPHA:920
disease_name: Ablepharon macrostomia syndrome
gene_symbol: CFTR
disease_id: ORPHA:498359
disease_name: Aquagenic palmoplantar keratoderma
Aquagenic keratoderma
Aquagenic syringeal acrokeratoderma
Aquagenic wrinkling of the palms
Transient reactive papulotranslucent acrokeratoderma
gene_symbol: C1R
disease_id: OMIM:130080
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
gene_symbol: MRAS
disease_id: OMIM:618499
disease_name: NOONAN SYNDROME 11
gene_symbol: LZTR1
disease_id: OMIM:616564
disease_name: NOONAN SYNDROME 10
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: ZNF469
disease_id: OMIM:229200
disease_name: BRITTLE CORNEA SYNDROME 1
gene_symbol: RIT1
disease_id: OMIM:615355
disease_name: NOONAN SYNDROME 8
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: TGM5
disease_id: ORPHA:263534
disease_name: Acral peeling skin syndrome
Acral PSS
Localized PSS
PSS 2
Peeling skin syndrome 2
gene_symbol: CSTA
disease_id: ORPHA:263534
disease_name: Acral peeling skin syndrome
Acral PSS
Localized PSS
PSS 2
Peeling skin syndrome 2
gene_symbol: TBL1XR1
disease_id: ORPHA:487825
disease_name: Pierpont syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome