Summaries for Ichthyosis

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44Wikipedia, 22MalaCards
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Wikipedia: Ichthyosis (plural Ichthyoses) is a heterogeneous family of at least 28, generalized, mostly genetic...44 more...

MalaCards: Ichthyosis, also known as congenital ichthyosis, is related to x-linked ichthyosis and ichthyosis vulgaris. An important gene associated with Ichthyosis is TGM1 (transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)), and among its related pathways are Cytoskeleton remodeling Keratin filaments and Cytoskeleton remodeling_Keratin filaments. The compounds collodion and calcipotriol have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and kidney, and related mouse phenotypes are craniofacial and pigmentation.

Aliases & Descriptions for Ichthyosis

Sources:
7diseasecard, 17Genetics Home Reference, 32Novoseek , 43UMLS
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ichthyosis 7 17 32
congenital ichthyosis 43

Related Diseases for Ichthyosis

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13GeneCards, 14GeneDecks
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Diseases related to ichthyosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 242)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked ichthyosis35.9VCX3A, FLG, ARSH, TGM1, STS
2ichthyosis vulgaris34.7CDSN, IVL, FLG2, FLG, LOR, SPRR1B
3ichthyosis bullosa of siemens34.2KRT1, KRT10, KRT2, CSTA
4autosomal recessive congenital ichthyosis34.0LIPN, LI5, INLNE, ALOX12B, ALOX15B, ALOXE3
5harlequin type ichthyosis33.9FLG, DUSP19, ABCA12, TGM1, CST6
6congenital ichthyosiform erythroderma33.9LOR, ALOX12B, ALOXE3, SPINK5, TGM1
7ichthyosis with hypotrichosis31.8TMPRSS11A, ST14, PRSS8
8ichthyosis prematurity syndrome31.8ICR4, SLC27A4, SLC27A1
9kid syndrome31.2GJB2, GJB3, GJB6
10atopic dermatitis31.1LBR, CDSN, IVL, FLG, LOR, SPINK5
11ichthyosis, follicular30.9FLG, TMPRSS11A, ST14, PRSS8
12hypotrichosis30.9CLDN1, CDSN, FLG, GJB2, GJB3, TMPRSS11A
13exfoliative ichthyosis30.8RARG, ITGB7, IGFBP6, KRT5, KRT2, CSTA
14netherton syndrome30.6CDSN, FLG, SPINK5, TGM1, TGM3, GBA
15epidermolytic hyperkeratosis30.0FLG, KRT5, KRT1, KRT10
16kallmann syndrome30.0VCX, VCX2, VCX3A, VCX3B, XG, CGA
17dermatitis29.4RELA, CLDN1, LBR, KAL1, CDSN, IVL
18keratoderma29.4RARG, LELP1, FLG, LOR, ALOX12B, ALOXE3
19alopecia29.3CLDN1, FLG, MBTPS2, CYP4F22, KRT16, KRT86
20skin disease28.8GJB3, KRT1, KRT10, KRT9, TGM1
21ocular albinism28.5VCX, VCX2, VCX3A, VCX3B, XG, XGPY2
22albinism28.4VCX3A, XGPY2, KAL1, ARSH, ARSE, GPR143
23photosensitive trichothiodystrophy28.3GTF2H5, ERCC2, ERCC3
24chondrodysplasia punctata28.2XG, ARSH, ARSE, ARSA, ARSB, GPR143
25chondrodysplasia28.2XG, ARSH, ARSE, ARSA, ARSB, GPR143
26ectropion27.9MBTPS2, CYP4F22, ABCA12, ABHD5, TGM1
27vohwinkel syndrome27.8LOR, GJB2, KRT10, TGM1
28erythrokeratoderma27.6LOR, GJB3, KRT10, ABHD5
29epidermolytic palmoplantar keratoderma27.5KRT16, KRT17, KRT1, KRT9
30anosmia27.1XG, KAL1, PHYH, PEX7
31ectodermal dysplasia26.9GJB2, GJB3, GJB6, KRT16, KRT17, KRT14
32spasticity26.1ARSA, ALDH3A2, CAPN1, NIPA1, NIPA2, NIPAL1
33short stature25.0BRAF, ARSE, ARSB, MAP2K2, MAP2K1, ALDH3A2
34psoriasis24.6SERPINB2, CLDN1, LELP1, CDSN, IVL, FLG2
35cholesterol23.0RELA, SERPINA7, RARG, LIPN, CLDN1, LBR
36carcinoma16.6RELA, VPS37A, SERPINA7, SERPINB2, BRAF, RARG
37glucocorticoid deficiency13.9IVL, FLG, LOR, STS
38acanthoma13.9IVL, KRT16, KRT1, KRT10
39epidermolytic acanthoma13.9KRT16, KRT1, KRT10
40bowen syndrome13.9IVL, FLG, KRT16, KRT17, KRT1, KRT10
41molluscum contagiosum13.9IVL, FLG, LOR, KRT16, KRT14
42focal palmoplantar keratoderma13.8GJB2, KRT16, KRT1
43steatocystoma multiplex13.8KRT16, KRT17, KRT10
44epidermolysis bullosa13.8IVL, FLG, LOR, KRT5, KRT17, KRT1
45pachyonychia congenita13.8KRT5, KRT16, KRT17
46trichoepithelioma13.8IVL, KRT17, KRT10, KRT14
47chondrodysplasia punctata 2 x-linked dominant13.7GNPAT, STS, EBP
48epidermolysis bullosa simplex13.7IVL, FLG, LOR, KRT5, KRT16, KRT86
49monilethrix13.7IVL, KRT16, KRT86, KRT17, KRT9, KRT2
50palmoplantar keratosis13.7LOR, GJB2, GJB6, NIPAL4, KRT1, KRT9

Graphical network of the top 20 diseases related to ichthyosis:



Graphical network of diseases related to ichthyosis

Clinical Features for Ichthyosis

Drugs & Therapeutics for Ichthyosis

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Genetic Tests for Ichthyosis

Anatomical Context for Ichthyosis

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22MalaCards
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MalaCards organs/tissues related to ichthyosis:

22
Brain, Skin, Kidney, Testis, B cells, Fetal brain

Phenotypes for genes affiliated with Ichthyosis

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25MGI
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Publications for genes affiliated with Ichthyosis

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35PubMed
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Articles related to ichthyosis:

(show top 50)    (show all 256)
idTitleAuthorsYearAffiliating Genes
1Harlequin ichthyosis in two siblings. (21798141)Habib A.... Hameed A.2011ABCA12
2NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. (20016120)Wajid M.... Christiano A.M.2010NIPAL4
3Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby va riants of lamellar ichthyosis. (19863506)Hackett B.C.... Irvine A.D.2010TGM1
4Genotypic and clinical spectrum of self-improving col lodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients . (19890349)Vahlquist A.... Fischer J.2010ALOX12B, TGM1, ALOXE3
5A novel mutation in the L12 domain of keratin 1 is as sociated with mild epidermolytic ichthyosis. (20500210)Bolling M.C.... van Geel M.2010KRT1
6Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. (19241467)Herman M.L.... Toro J.R.2009TGM1
7Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene. (19200188)Gonzalez-Huerta L.... Cuevas-Covarrubias S.2009STS
8Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. (19183181)Oji V.... McLean W.H.2009FLG
9Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. (18200065)Nomura T.... McLean W.H.2008FLG
10X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. (18413370)Kent L.... Yates J.R.2008STS, NLGN4X
11Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation. (17113756)Hosomi N.... Ishii M.2007STS
12Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. (17139268)Lesueur F.... Fischer J.2007ALOX12B, ALOX15B, ALOXE3
13Recessive autosomal ichthyosis with hypotrichosis with mutation in the ST14 gene (17978729)Dereure O.2007ST14
14Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. (17273967)Basel-Vanagaite L.... Shohat M.2007ST14
15The South African 'bathing suit ichthyosis' is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. (16977323)Arita K.... McGrath J.A.2007TGM1
16On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis. (17573887)Hoffjan S.... Stemmler S.2007FLG
17Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. (15967693)Chabas A.... Vilageliu L.2005GBA
18STS gene in a pedigree with X-linked ichthyosis. (16196306)Liu A.... Liu Y.2005STS, KRT86
19Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. (15949009)Akiyama M.... Shimizu H.2005KRT2
20Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies. (16323556)Hou J.W.2005GPR143
21A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. (15968592)Sprecher E.... Mandel H.2005SNAP29
22A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene. (16120162)Mizuno Y.... Ogawa H.2005SPINK5
23A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. (15337980)Montgomery J.R.... Holland S.M.2004GJB2
24The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases. (12822194)Vahlquist A.... Westermark P.2003TGM1
25Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. (12752120)Yotsumoto S.... Kanzaki T.2003GJB2
26The ichq mutant mouse, a model for the human skin disorder harlequin ichthyosis: mapping, keratinocyte culture, and consideration of candidate genes involved in epidermal growth regulation. (12823437)Dunnwald M.... Dale B.A.2003RELA, CAPN1, PLCB3
27An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. (14636323)Doherty M.J.... Farrell D.F.2003ARSE
28The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis. (12839564)Zeeuwen P.L.... Schalkwijk J.2003CST6
29New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. (11531804)Whittock N.V.... McGrath J.A.2001KRT1, KRT2
30Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. (11298529)Cserhalmi-Friedman P.B.... Christiano A.M.2001TGM1
31Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis. (11477606)Valdes-Flores M.... Cuevas-Covarrubias S.A.2001STS
32Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population. (11844872)Jimenez Vaca A.L.... Cuevas-Covarrubias S.A.2001STS
33Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. (10712205)Fischer J.... Prud'homme J.F.2000CYP4F22
34Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis. (10692123)Valdes-Flores M.... Cuevas-Covarrubias S.A.2000STS
35Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes. (10844566)Oyama N.... Kaneko F.2000STS
36Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris. (11121144)Presland R.B.... Sundberg J.P.2000FLG
37Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus. (10094194)Parmentier L.... Weissenbach J.1999ABCA12
38Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. (10482949)Laiho E.... Saarialho-Kere U.1999TGM1
39A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. (9856845)Suga Y.... Roop D.R.1998KRT10
40Deletion pattern of the steroid sulphatase gene in Japanese patients with X-linked ichthyosis. (9764155)Saeki H.... Ishibashi Y.1998STS
41Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. (9545389)Hennies H.C.... Reis A.1998TGM1
42Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity. (9359043)Petit E.... Hovnanian A.1997TGM1
43Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. (9326318)Laiho E.... Palotie A.1997TGM1
44Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. (7521372)Steijlen P.M.... Mariman E.C.1994KRT1
45Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. (7977373)Russell L.J.... Bale S.J.1994TGM1
46X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hunermann syndrome and its murine homologue, the bare patches mouse. (8129411)Emami S.... Williams M.L.1994GNPAT
47Harlequin ichthyosis. Variability in expression and hypothesis for disease mechanism. (7694551)Dale B.A.... Kam E.1993DUSP19
48Keratohyalin granules are heterogeneous in ridged and non-ridged human skin: evidence from anti-filaggrin immunogold labelling of normal skin and skin of autosomal dominant ichthyosis vulgaris patients. (1724895)GA1nzel S.... Anton-Lamprecht I.1991FLG
49Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. (1785631)Ballabio A.... Strisciuglio P.1991STS
50Ichthyosis and steroid sulfatase: study of enzymatic activity in leukocytes and fibroblasts according to the sex and type of ichthyosis (2158060)Piraud M.... Barrut D.1990STS

Expression for genes affiliated with Ichthyosis

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Ichthyosis

Pathways for genes affiliated with Ichthyosis

Sources:
10EMD Millipore, 41Thomson Reuters, 20KEGG, 38Reactome, 34PharmGKB, 36QIAGEN, 37R&D Systems
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Pathways related to ichthyosis according to GeneDecks:

(show all 25)
idPathwayScoreTop Affiliating Genes
1Cytoskeleton remodeling Keratin filaments1010.6KRT5, KRT1, KRT2, KRT16, KRT14, KRT4
2Cytoskeleton remodeling_Keratin filaments4110.6KRT2, KRT17, KRT16, KRT4, KRT5, KRT14
3HETE and HPETE biosynthesis and metabolism4110.2EPHX2, ALOX12, ALOX15B, ALOX12B, CYP4F2
4HETE and HPETE biosynthesis and metabolism1010.2EPHX2, CYP4F2, ALOX15B, ALOX12B, ALOX12
5Arachidonic acid metabolism2010.1ALOX12B, ALOX15B, CYP4F2, EPHX2, ALOX12
6Metabolism of lipids and lipoproteins389.9LBR, GBA, EBP, SLC27A1, STS, ABHD5
7Sorafenib Pharmacodynamics349.5KRAS, MAP2K1, BRAF
8Pathway_PA165959425349.3KRAS, MAP2K2, MAP2K1, BRAF
9Signaling in Gap Junctions369.3BRAF, GJB2, GJB3, PLCB3, MAP2K1, MAP2K2
10Pathway_PA165980050349.3MAP2K1, BRAF, MAP2K2, KRAS
11Acute myeloid leukemia209.3MAP2K2, MAP2K1, BRAF, KRAS
12Thyroid cancer209.2KRAS, BRAF, MAP2K2, MAP2K1
13Development A2B receptor- action via G-protein alpha s109.2MAP2K1, BRAF, MAP2K2, PLCB3, RELA
14Common Cytokine Receptor Gamma-Chain Family Signaling Pathways379.2BRAF, MAP2K2, MAP2K1, KRAS
15Development_A2B receptor- action via G-protein alpha s419.2BRAF, MAP2K2, MAP2K1, PLCB3, RELA
16IL-2 Signaling Pathways379.2MAP2K2, BRAF, KRAS, MAP2K1
17G-protein signaling Ras family GTPases in kinase cascades (scheme)109.1MAP2K2, BRAF, MAP2K1, KRAS
18G-protein signaling_Ras family GTPases in kinase cascades (scheme)419.1BRAF, KRAS, MAP2K1, MAP2K2
19Long-term potentiation208.8BRAF, MAP2K2, MAP2K1, PLCB3, KRAS
20Long-term depression208.7PLCB3, KRAS, BRAF, MAP2K2, MAP2K1
21Non-small cell lung cancer208.7MAP2K2, BRAF, TGFA, MAP2K1, KRAS
22Glioma208.4KRAS, MAP2K1, MAP2K2, BRAF, TGFA
23Prostate cancer208.3RELA, BRAF, MAP2K1, KRAS, TGFA, MAP2K2
24Renal cell carcinoma208.3MAP2K1, MAP2K2, BRAF, KRAS, TGFA
25Pancreatic cancer208.0KRAS, MAP2K1, RELA, BRAF, TGFA

Compounds for genes affiliated with Ichthyosis

Sources:
32Novoseek , 42Tocris Bioscience, 9DrugBank, 18HMDB, 34PharmGKB
See all sources

Compounds related to ichthyosis according to GeneDecks:

(show top 50)    (show all 53)
idCompoundScoreTop Affiliating Genes
1collodion32 10.9LOR, IVL, TGM1, GBA
2calcipotriol32 42 9 9 13.8FLG, KRT14, TGM1, KRT16, IVL, KRT5
3cholesterol-sulfate32 9 9 12.8TGM1, SULT2A1, IVL, STS
4tazarotene32 9 9 12.8KRT1, RARG, KRT2, KRT10
5hematoxylin32 10.8KRT1, KRT10, LOR, KRT14, FLG, IVL
6pregnenolone sulfate32 10.7SULT2A1, ARSH, STS
7epsilon-(gamma-glutamyl)lysine32 10.5IVL, LOR, TGM1
8acitretin32 9 9 12.5IVL, RARG, KRT5, KRT17
9histidine32 10.5KRT10, STS, KRT14, KRT5, ARSH, FLG
10ceramides32 10.4KRT1, DUSP19, IVL, PPP2R4, GBA
11asparagine32 10.4GJB2, KRT17, KRT5, GBA, KRT1, SERPINA7
12retinoid32 10.4IGFBP6, RARG, IVL, FLG, GJB2, CRABP2
13dydrogesterone32 9 9 12.4STS, ARSH, CGA
14sodium dodecylsulfate32 10.4SERPINA7, KRT1, TGM1, CRABP2, KRT16, KRT17
15mucopolysaccharide32 10.3ARSH, ARSA, ARSB, STS
16cerebroside32 10.3STS, ARSH, ARSB, ARSA
17formylglycine32 10.3ARSB, ARSA, ARSH, SUMF1
18dithranol32 10.2KRT10, KRT16, FLG, IVL, TGFA
19lysine32 10.0KRT5, KRT86, IVL, SERPINB2, RELA, LELP1
20tcdd32 10.0KRT10, IVL, SERPINB2, TGFA, ARSH
21estrone32 9 18 9 12.9STS, ARSH, ARSE, ARSA, ARSB, SULT2A1
22bromodeoxyuridine32 9.9TGFA, KRT14, KRT10, FLG, IVL, LBR
23gf 109203x32 42 10.8TGM1, FLG, TGFA, IVL, DUSP19, MAP2K1
24vitamin a32 9 18 9 12.8KRT14, TGM1, SOD1, LOR, KRT16, KRT5
25ceramide32 9.7IVL, FLG, ARSA, MAP2K1, DUSP19, PPP2R4
26cholesterol32 9 18 9 12.7IVL, MBTPS2, MAP2K1, LOR, ERCC2, SULT2A1
27arachidonic acid32 9 18 9 12.4ALOXE3, ALOX15B, EPHX2, SLC27A1, ALOX12B, PNPLA2
28phorbol32 9.3MAP2K1, ALOX12, ALOX15B, DUSP19, PPP2R4, TGFA
29tamoxifen32 34 9 9 12.1EPHX2, IGFBP6, EBP, STS, TGFA, KRT14
30vitamin d32 9.0SULT2A1, IVL, CGA, LBR, CRABP2, TGM1
3112-o-tetradecanoylphorbol 13-acetate32 8.9BRAF, CSTA, MAP2K1, TGFA, KRT5, PPP2R4
32forskolin32 42 9 9 11.8GJB2, BRAF, DUSP19, LBR, CGA, IVL
33ascorbic acid32 18 9.8PPP2R4, SERPINB2, CGA, EPHX2, FLG, DUSP19
34matrigel32 8.5SERPINB2, TIAM1, GJB2, ALOX12, MAP2K1, BRAF
35fatty acid32 8.5BRAF, IVL, ALDH3A2, ALOX12, GNPAT, HLCS
36cysteine32 8.4ARSA, EPHX2, STS, TGFA, FLG, KRT14
37steroid32 8.3FLG, ARSH, TGFA, ALOX15B, SULT2A1, CRABP2
38progesterone32 42 9 18 9 12.3IGFBP6, KRT5, KRT1, KRT10, KRT14, TGFA
39paraffin32 8.2KRT17, KRT1, BRAF, KRT10, KRAS, KRT14
40proline32 8.2GJB3, GJB2, CAPN1, LOR, MAP2K1, ARSA
41cisplatin32 34 9 9 11.1BRAF, LBR, PPP2R4, KRT14, KRAS, DUSP19
42testosterone32 9 18 9 10.9PPP2R4, SULT2A1, LBR, CGA, MAP2K1, ARSH
43arginine32 7.7TGFA, TGM1, SOD1, KRT14, EPHX2, KRT9
44cycloheximide32 7.6ALOX12, MAP2K1, MAP2K2, CGA, LBR, SERPINB2
45retinoic acid32 42 18 9.5IVL, KRAS, MAP2K1, IGFBP6, LOR, ALOX12
46estrogen32 7.2KRT4, KRT5, KRT1, KRAS, KRT14, KRT10
47calcium32 9 18 9 10.1LELP1, TGM3, ST14, EBP, STS, ITGB7
48lipid32 6.9SERPINA7, SULT2A1, PPP2R4, PNPLA2, CRABP2, NISCH
49serine32 6.6ALDH3A2, RELA, SERPINA7, SERPINB2, BRAF, CDSN
50tyrosine32 6.4MAP2K1, KRT1, MAP2K2, ARSH, FLG, ITGB7

GO Terms for genes affiliated with Ichthyosis

Sources:
12Gene Ontology
See all sources

Cellular components related to ichthyosis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:04509510.1KRT2, KRT9, KRT10, KRT1, KRT86, KRT5
2cornified envelopeGO:00153310.1CDSN, CSTA, CST6, TGM1, RPTN, SPRR1B
3intermediate filamentGO:0058829.9KRT14, KRT2, KRT10, KRT1, KRT17, KRT86

Biological processes related to ichthyosis according to GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1magnesium ion transportGO:01569310.5NIPAL4, NIPA1, NIPA2, NIPAL1
2peptide cross-linkingGO:01814910.3IVL, CSTA, LOR, SPRR1B, SPRR3, TGM1
3leukotriene biosynthetic processGO:01937010.3ALOX12B, ALOX15B, ALOXE3, ALOX12
4keratinizationGO:03142410.2TGM3, TGM1, KRT2, PPHLN1, SPRR3, LOR
5hair cell differentiationGO:03531510.2SPINK5, ERCC3, ERCC2
6skin developmentGO:04358810.1GJB3, ERCC2, KRT9, STS, SLC27A4
7keratinocyte differentiationGO:0302169.9IVL, TGM1, MAP2K1, CDSN, FLG, SPRR3
8glycosphingolipid metabolic processGO:0066879.9GBA, SUMF1, ARSA, ARSE, ARSH, ARSB
9epidermis developmentGO:0085449.9ALDH3A2, KRT17, SPRR1B, SPRR3, CRABP2, KRT5
10sphingolipid metabolic processGO:0066659.9ARSB, SUMF1, ARSH, ARSE, ARSA, STS
11phospholipid metabolic processGO:0066449.6ARSH, SUMF1, PNPLA2, STS, GBA, ARSE
12small molecule metabolic processGO:0442818.1SULT2A1, SUMF1, CYP4F2, PNPLA2, PHYH, ABHD5

Molecular functions related to ichthyosis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00520010.2KRT2, KRT14, LOR, KRT5, KRT16, KRT17
2lipoxygenase activityGO:01616510.0ALOX12, ALOX12B, ALOX15B, ALOXE3
3structural molecule activityGO:0051989.9CSTA, KRT86, KRT4, SPRR3, CLDN1, IVL
4arylsulfatase activityGO:0040659.8ARSB, ARSA, ARSE, ARSH

Sources for Ichthyosis

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS