Ectropion malady

Wikipedia: Ectropion is a medical condition in which the lower eyelid turns outwards. It is one of the notable...⁴⁴ more...

MalaCards: Ectropion, also known as everted margin (morphologic abnormality), is related to keratosis follicularis spinulosa decalvans and corneal degeneration. An important gene associated with Ectropion is TGM1 (transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)). The compound Heme have been mentioned in the context of this disorder. Related mouse phenotypes are integument and growth/size.

Aliases & Descriptions:

ectropion 6 8 32 everted margin (morphologic abnormality) 6 unspecified ectropion (disorder) 6

ectropion of eyelid (disorder) 6 ectropion nos (disorder) 6 ectropion, unspecified 6

Diseases related to ectropion by text searches and GeneDecks gene sharing:

(show all 22)

id	Related Disease	Score	Top Affiliating Genes
1	keratosis follicularis spinulosa decalvans	13.0	MBTPS2, SAT1
2	corneal degeneration	13.0	SAT1, MBTPS2
3	harlequin type ichthyosis	12.9	ABCA12, TGM1
4	mongolian spot	12.9	SAT1, MBTPS2
5	ichthyosis vulgaris	12.8	ABCA12, TGM1
6	blepharitis	12.7	MBTPS2, SAT1
7	autosomal recessive congenital ichthyosis	12.7	TGM1, ABCA12, CYP4F22
8	lagophthalmos	12.5	MBD5, LAX1
9	alopecia	12.4	MBTPS2, CYP4F22, ABCA12, TGM1
10	congenital ichthyosiform erythroderma	12.4	TGM1, ABHD5, ABCA12, CYP4F22
11	ichthyosis	12.1	TGM1, ABHD5, ABCA12, CYP4F22, MBTPS2
12	keratopathy	12.0	PAX6, MBD5
13	twinning	11.3	PAX6, SAT1, NF1, ABHD5
14	cicatricial ectropion	7.3
15	mechanical ectropion	7.3
16	senile ectropion	7.3
17	spastic ectropion	7.3
18	ectropion inferior cleft lip and or palate	7.0
19	barber say syndrome	6.4
20	ichthyosis alopecia eclabion ectropion mental retardation	6.4
21	jones hersh yusk syndrome	5.5
22	sezary's disease	5.5

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to ectropion:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument phenotype	MP:0010771	7.5	PAX6, UROS, NF1, ABCA12, ABHD5, TGM1
2	growth/size phenotype	MP:0005378	7.4	ABHD5, ABCA12, NF1, SAT1, UROS, PAX6

Articles related to ectropion:

id	Title	Authors	Year	Affiliating Genes
1	Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae. (15627836)	Trovo-Marqui A.B.... Tajara E.H.	2004	NF1

Genes related to ectropion according to GeneCards:

(show all 13)

id	Symbol	Description	Score	GeneCards Section Context
1	TGM1	transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)	11.0
2	MBTPS2	membrane-bound transcription factor peptidase, site 2	11.0
3	LAX1	lymphocyte transmembrane adaptor 1	11.0	Disorders
4	AADAC	arylacetamide deacetylase	11.0	Disorders
5	CYP4F22	cytochrome P450, family 4, subfamily F, polypeptide 22	11.0
6	ABHD5	abhydrolase domain containing 5	11.0
7	SAT1	spermidine/spermine N1-acetyltransferase 1	11.0
8	CYP4V2	cytochrome P450, family 4, subfamily V, polypeptide 2	11.0
9	UROS	uroporphyrinogen III synthase	11.0	Disorders
10	ABCA12	ATP-binding cassette, sub-family A (ABC1), member 12	11.0
11	PAX6	paired box 6	11.0
12	MBD5	methyl-CpG binding domain protein 5	11.0	Disorders
13	NF1	neurofibromin 1	11.0	Publications

Compounds related to ectropion according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	Heme9 18 9	11.3	UROS, CYP4V2, CYP4F22

Biological processes related to ectropion according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	keratinocyte differentiation	GO:030216	9.6	PAX6, TGM1
2	positive regulation of triglyceride catabolic process	GO:010898	9.5	ABHD5, AADAC

Molecular functions related to ectropion according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	monooxygenase activity	GO:004497	9.7	CYP4V2, CYP4F22
2	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:016705	9.6	CYP4V2, CYP4F22
3	triglyceride lipase activity	GO:004806	9.5	ABHD5, AADAC