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Non-Syndromic Ichthyosis


Name	OMIM	Mode Of Inheritance	Gene(s)
Ichthyosis Vulgaris	146700	Autosomal semi-dominant	FLG
X-linked recessive ichthyosis	308100	X-linked recessive	STS
Harlequin ichthyosis	242500	Autosomal recessive	ABCA12
Congenital ichthyosiform erythoderma	242100	Autosomal recessive	TGMI1, ALOX12B, ALOXE3, ABCA12, CYP4F22 , NIPAL4, LIPN, CERS3, PNPLA1, ST14, CASP14
Lamellar ichthyosis	242300	Autosomal recessive	TGMI1, ALOX12B, ALOXE3, ABCA12, CYP4F22 , NIPAL4, LIPN, CERS3, PNPLA1, ST14, CASP14
Self improving congenital ichthyosis	242300	Autosomal recessive	TGM1, ALOX12B, ALOXE3
Bathing suit ichthyosis	242300	Autosomal recessive	TGMI1
Epidermolytic ichthyosis	113800	Autosomal dominant	KRT1, KRT10
Superficial epidermolytic ichthyosis	146800	Autosomal dominant	KRT2
Annular epidermolytic ichthyosis	607602	Autosomal dominant	KRT1, KRT10
Ichthyosis Curth-Macklin	146590	Autosomal dominant	KRT1
Autosomal recessive epidermolytic ichthyosis	113800	Autosomal recessive	KRT10
Congenital reticular ichthyosiform erythroderma	609165	Autosomal dominant	KRT1, KRT10
Epidermolytic nevi	113800	Postzygotic mosaicism	KRT1, KRT10
Loricrin keratoderma	604117	Autosomal dominant	LOR
Erythrokeratodermia variabilis	133200	Autosomal dominant	GJB3, GJB4
Peeling skin disease	270300	Autosomal recessive	CDSN
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	601952	Autosomal recessive	POMP

Syndromic Ichthyosis


Name	OMIM	Mode Of Inheritance	Gene(s)
X-linked recessive ichthyosis syndromic forms	308700 300500 300533	X-linked recessive	STS
Ichthyosis follicularis with alopecia and photophobia syndrome	308205	X-linked recessive	MBTPS2
Conradi-Hunermann-Happle syndrome	302960	X-linked dominant	EBP
Netherton syndrome	256500	Autosomal recessive	SPINK5
Ichthyosis-hypotrichosis syndrome	610765	Autosomal recessive	ST14
Trichothiodystrophy	601675	Autosomal recessive	ERCC2, ERCC3, GTF2H5
Trichothiodystrophy (non-congenital forms)	275550 211390 601675	Autosomal recessive	C7Orf11, TTDN1
Sjögren-Larsson syndrome	270200	Autosomal recessive	ALDH3A2
Refsum's disease	266500	Autosomal recessive	PEX7
Mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome	609528	Autosomal recessive	SNAP29
Arthrogryposis, renal dysfunction, cholestasis syndrome	208085	Autosomal recessive	VPS33B
Keratitis-ichthosis-deafness syndrome	602450 148210	Autosomal dominant	GJB2
Neutral lipid storage disease with ichthyosis	275630	Autosomal recessive	ABHD5
Ichthyosis prematurity syndrome	608649	Autosomal recessive	SLC27A4