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autosomal recessive cutis laxa type II classic type

Synonym

Definition

A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia.

Super Class

autosomal recessive disease cutis laxa

Disease Ontology

DOID:0070141

ORDO

Related Genes

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Gene ID	Gene Symbol	Description	Source
142	PARP1	poly(ADP-ribose) polymerase 1	DisGeNET
523	ATP6V1A	ATPase H+ transporting V1 subunit A	DisGeNET DisGeNET DisGeNET
537	ATP6AP1	ATPase H+ transporting accessory protein 1	DisGeNET
847	CAT	catalase	DisGeNET
1634	DCN	decorin	DisGeNET
1717	DHCR7	7-dehydrocholesterol reductase	DisGeNET
1892	ECHS1	enoyl-CoA hydratase, short chain 1	DisGeNET
5336	PLCG2	phospholipase C gamma 2	DisGeNET
5373	PMM2	phosphomannomutase 2	DisGeNET
9469	CHST3	carbohydrate sulfotransferase 3	DisGeNET

Related Glycoprotein

Displaying entries **1 - 10** of 18 in total

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UniProt ID	Protein Name	Source
O15305	Phosphomannomutase 2	DisGeNET
O94766	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3	DisGeNET
O95528	Solute carrier family 2, facilitated glucose transporter member 10	DisGeNET
P04040	Catalase	DisGeNET
P07585	Decorin	DisGeNET
P09874	Poly [ADP-ribose] polymerase 1	DisGeNET
P16885	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2	DisGeNET
P30084	Enoyl-CoA hydratase, mitochondrial	DisGeNET
P38606	V-type proton ATPase catalytic subunit A	DisGeNET DisGeNET DisGeNET
P48651	Phosphatidylserine synthase 1	DisGeNET