Congenital ichthyosis | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 1	MONDO:0009441	TGM1	Causal	16968736 7824952	ClinVar, GenCC	Formation of the cornified envelope
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 10	MONDO:0014011	PNPLA1	Causal	22246504 24344921 26691440 28403545 31120544 31833240 33786896 34899144 36647593	ClinVar, GenCC	—
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 11	MONDO:0011218	ST14	Causal	—	ClinVar, GenCC	MicroRNAs in cancer Formation of the cornified envelope
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 11	MONDO:0011218	KRT1	Unknown	—	GenCC	Neutrophil degranulation Keratinization Formation of the cornified envelope
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 2	MONDO:0009439	ALOX12B	Causal	11773004 17139268	ClinVar, GWAS catalog	Arachidonic acid metabolism Metabolic pathways Serotonergic synapse +1 more
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 2	MONDO:0009439	ALOXE3	Causal	—	ClinVar	Arachidonic acid metabolism Metabolic pathways Synthesis of 12-eicosatetraenoic acid derivatives
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 3	MONDO:0011680	ALOXE3	Causal	11773004 16116617	ClinVar, GWAS catalog	Arachidonic acid metabolism Metabolic pathways Synthesis of 12-eicosatetraenoic acid derivatives
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 4A	MONDO:0011026	ABCA12	Causal	—	ClinVar, GenCC	ABC transporters ABC transporters in lipid homeostasis Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 4B	MONDO:0009443	ABCA12	Causal	15756637 16007253 12915478	ClinVar, GWAS catalog	ABC transporters ABC transporters in lipid homeostasis Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 5	MONDO:0011485	CYP4F22	Causal	—	ClinVar, GenCC	Fatty acids Miscellaneous substrates Eicosanoids +2 more
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 6	MONDO:0012847	NIPAL4	Causal	—	ClinVar, GenCC	Miscellaneous transport and binding events
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 8	MONDO:0013495	LIPN	Unknown	21439540	ClinVar, GenCC	Formation of the cornified envelope
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 9	MONDO:0014010	CERS3	Causal	—	ClinVar, GenCC	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
CONGENITAL ICHTHYOSIS	C0020758	ABCA12	Unknown	—	Disgenet	ABC transporters ABC transporters in lipid homeostasis Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B
CONGENITAL ICHTHYOSIS	C0020758	SDR9C7	Unknown	—	Disgenet	The canonical retinoid cycle in rods (twilight vision)
CONGENITAL ICHTHYOSIS OF SKIN		SDR9C7	Causal	—	ClinVar	The canonical retinoid cycle in rods (twilight vision)
CONGENITAL ICHTHYOSIS OF SKIN		CASP14	Unknown	—	ClinVar	Formation of the cornified envelope