MCID: ICH004
MIFTS: 54

Ichthyosis

Categories: Rare diseases, Skin diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Ichthyosis

MalaCards integrated aliases for Ichthyosis:

Name: Ichthyosis 12 72 28 51 41 14
Ichthyoses 12 69
Non-Syndromic Ichthyosis 12
Congenital Ichthyosis 69

Classifications:



External Ids:

Disease Ontology 12 DOID:1697
MeSH 41 D007057

Summaries for Ichthyosis

Disease Ontology : 12 A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed.

MalaCards based summary : Ichthyosis, also known as ichthyoses, is related to ichthyosis, congenital, autosomal recessive 4a and ichthyosis, x-linked, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis is STS (Steroid Sulfatase), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Bezafibrate and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and thyroid, and related phenotypes are homeostasis/metabolism and integument

Wikipedia : 72 Ichthyosis is a family of rare genetic skin disorders characterized by dry, thickened, scaly... more...

Related Diseases for Ichthyosis

Diseases in the Ichthyosis family:

Ichthyosis, Congenital, Autosomal Recessive 2 Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Congenital, Autosomal Recessive 4b Ichthyosis, Congenital, Autosomal Recessive 4a
Ichthyosis, Congenital, Autosomal Recessive 11 Ichthyosis, Congenital, Autosomal Recessive 5
Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 6
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Congenital, Autosomal Recessive 9 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 12 Ichthyosis, Congenital, Autosomal Recessive 14
Ichthyosis, Congenital, Autosomal Recessive 13 Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Acquired

Diseases related to Ichthyosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 363)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 4a 34.4 ABCA12 TGM1
2 ichthyosis, x-linked 34.1 FLG KRT10 STS TGM1
3 ichthyosis bullosa of siemens 34.1 KRT1 KRT10 KRT2
4 ichthyosis, cyclic, with epidermolytic hyperkeratosis 34.0 KRT1 KRT10
5 ichthyosis, congenital, autosomal recessive 4b 33.6 ABCA12 ALOX12B ALOXE3 CYP4F22 FLG NIPAL4
6 erythroderma, ichthyosiform, congenital reticular 33.5 KRT1 KRT10
7 ichthyosis vulgaris 33.2 ABCA12 FLG KRT1 LOR STS TGM1
8 netherton syndrome 33.0 FLG SPINK5 TGM1
9 ichthyosis, congenital, autosomal recessive 2 32.8 ALOX12B ALOXE3 LOR NIPAL4 SPINK5 TGM1
10 self-improving collodion baby 32.6 ALOX12B ALOXE3 TGM1
11 epidermolytic hyperkeratosis 32.5 FLG KRT1 KRT10 KRT2 LOR
12 ectropion 32.3 ABCA12 TGM1
13 autosomal recessive congenital ichthyosis 32.0 ABCA12 ALOX12B ALOXE3 CERS3 CYP4F22 NIPAL4
14 ichthyosis, congenital, autosomal recessive 1 31.8 ABCA12 ALDH3A2 ALOX12B ALOXE3 CYP4F22 FLG
15 vohwinkel syndrome 31.7 GJB2 LOR TGM1
16 pseudoainhum 29.9 GJB2 LOR
17 acanthoma 29.7 KRT1 KRT10
18 epidermolysis bullosa simplex 29.6 FLG KRT1 KRT10
19 epidermodysplasia verruciformis 29.6 FLG KRT1 KRT10
20 dermatitis, atopic 29.6 FLG LOR SPINK5
21 keratosis 29.5 FLG GJB2 KRT1 KRT10 MBTPS2
22 papilloma 29.5 FLG KRT1 KRT10
23 psoriasis 29.3 FLG KRT1 KRT10 LOR TGM1
24 congenital ichthyosiform erythroderma 29.1 ABCA12 ABHD5 ALOX12B ALOXE3 CERS3 CYP4F22
25 skin disease 28.2 ABCA12 FLG GJB2 KRT1 KRT10 LOR
26 ichthyosis, congenital, autosomal recessive 11 12.5
27 ichthyosis, congenital, autosomal recessive 3 12.4
28 ichthyosis hystrix, curth-macklin type 12.4
29 ichthyosis, congenital, autosomal recessive 5 12.4
30 ichthyosis, congenital, autosomal recessive 8 12.4
31 keratitis-ichthyosis-deafness syndrome, autosomal dominant 12.4
32 ichthyosis, congenital, autosomal recessive 6 12.3
33 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 12.3
34 ichthyosis, congenital, autosomal recessive 10 12.3
35 ichthyosis prematurity syndrome 12.3
36 ichthyosis, congenital, autosomal recessive 9 12.3
37 ichthyosis hystrix gravior 12.3
38 ichthyosis, congenital, autosomal recessive 7 12.3
39 ichthyosis, spastic quadriplegia, and mental retardation 12.2
40 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 12.2
41 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 12.2
42 ichthyosis lamellar 1 12.2
43 ichthyosis follicularis atrichia photophobia syndrome 12.1
44 ichthyosis, congenital, autosomal recessive 12 12.1
45 ichthyosis, hystrix-like, with deafness 12.1
46 ichthyosis lamellar 3 12.1
47 ichthyosis lamellar 2 12.1
48 ichthyosis--cheek--eyebrow syndrome 12.1
49 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 12.1
50 ichthyosis, congenital, autosomal recessive 14 12.1

Graphical network of the top 20 diseases related to Ichthyosis:



Diseases related to Ichthyosis

Symptoms & Phenotypes for Ichthyosis

UMLS symptoms related to Ichthyosis:


trichorrhexis invaginata

MGI Mouse Phenotypes related to Ichthyosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ABCA12 ABHD5 ALDH3A2 ALOX12B ALOXE3 CERS3
2 integument MP:0010771 9.4 ABCA12 ABHD5 ALDH3A2 ALOX12B ALOXE3 CERS3

Drugs & Therapeutics for Ichthyosis

Drugs for Ichthyosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2 Anticholesteremic Agents Phase 4,Phase 2
3 Antimetabolites Phase 4,Phase 2
4 Clofibric Acid Phase 4 882-09-7
5 Hypolipidemic Agents Phase 4,Phase 2
6 Lipid Regulating Agents Phase 4,Phase 2
7 Liarozole Investigational Phase 2, Phase 3 115575-11-6
8 Androgen Antagonists Phase 2, Phase 3
9 Androgens Phase 2, Phase 3
10 Antineoplastic Agents, Hormonal Phase 2, Phase 3
11 Dermatologic Agents Phase 2, Phase 3,Phase 1
12 Hormone Antagonists Phase 2, Phase 3
13 Hormones Phase 2, Phase 3
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
15 Cariostatic Agents Phase 3
16 Monolaurin Phase 3
17 Protective Agents Phase 3
18
Ethanol Approved Phase 2 64-17-5 702
19
Adalimumab Approved Phase 2 331731-18-1 16219006
20
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 17753757 6447131
21
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
22 Anti-Inflammatory Agents Phase 2,Phase 1
23 Antirheumatic Agents Phase 2,Phase 1
24 Analgesics Phase 1, Phase 2
25 Analgesics, Non-Narcotic Phase 1, Phase 2
26 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
27 Calcineurin Inhibitors Phase 1, Phase 2
28 Immunosuppressive Agents Phase 1, Phase 2
29 Peripheral Nervous System Agents Phase 1, Phase 2
30 Antibodies Phase 2
31 Antibodies, Monoclonal Phase 2
32 Immunoglobulins Phase 2
33 Pharmaceutical Solutions Phase 2
34
Acitretin Approved 55079-83-9 5284513 6437841
35 Keratolytic Agents
36 Radiation-Protective Agents
37 Sunscreening Agents

Interventional clinical trials:

(show all 36)

# Name Status NCT ID Phase Drugs
1 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
2 Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous Unknown status NCT01222000 Phase 3 apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side;apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side
3 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3 liposomal T4N5 lotion
4 Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar Ichthyosis Completed NCT00282724 Phase 2, Phase 3 Liarozole
5 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3 monolaurin cream
6 A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS) Not yet recruiting NCT03445650 Phase 3 ADX-102 1% Topical Dermal Cream;Vehicle of ADX-102 Topical Dermal Cream
7 A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis Completed NCT02864082 Phase 2 PAT-001, 0.1%;PAT-001, 0.2%;Vehicle
8 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2 Active topical NS2 1% dermatologic cream;Vehicle placebo 0.0% NS2 dermatologic cream
9 Clinical Trial Using Humira in Netherton Syndrome Completed NCT02113904 Phase 2 Adalimumab
10 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome Completed NCT00208026 Phase 1, Phase 2 Pimecrolimus 1% Cream
11 A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris Recruiting NCT03173547 Phase 2 146-9251 cream;Vehicle cream
12 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2 Secukinumab;Placebo
13 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
14 A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome Completed NCT01428297 Phase 1 BPR277 ointment (controlled application);Placebo (Vehicle);BPR277 ointment;Placebo (Vehicle);BPR277;Placebo (Vehicle)
15 Gene Therapy for Netherton Syndrome Recruiting NCT01545323 Phase 1
16 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
17 Xeroderma Pigmentosum Patient Experiences Unknown status NCT01123694
18 Natural History and Biological Study of Netherton Syndrome Unknown status NCT02081313
19 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
20 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
21 Use of Fish Skin Extracellular Matrix (ECM) to Facilitate Chronic Wound Healing Completed NCT01348581
22 Healing of Punch Graft Wounds. Comparative Study Between MariGen and Oasis: a Non-inferiority Study Completed NCT01917591
23 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660
24 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
25 Defining the Skin and Blood Biomarkers of Ichthyosis Recruiting NCT03417856
26 A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
27 Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers Recruiting NCT01971957
28 Asthma and Atopic Dermatitis Validation of PROMIS Pediatric Instruments Recruiting NCT03051347
29 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
30 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
31 Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum Recruiting NCT00046189
32 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
33 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
34 Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis Vulgaris Enrolling by invitation NCT02978209
35 Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Enrolling by invitation NCT02830763
36 XPAND Trial: Enhancing XP Photoprotection Activities - New Directions Not yet recruiting NCT03445052

Search NIH Clinical Center for Ichthyosis

Cochrane evidence based reviews: ichthyosis

Genetic Tests for Ichthyosis

Genetic tests related to Ichthyosis:

# Genetic test Affiliating Genes
1 Ichthyosis 28

Anatomical Context for Ichthyosis

MalaCards organs/tissues related to Ichthyosis:

38
Skin, Testes, Thyroid, Liver, Eye, Neutrophil, Brain

Publications for Ichthyosis

Articles related to Ichthyosis:

(show top 50) (show all 976)
# Title Authors Year
1
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ( 29400301 )
2018
2
Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis. ( 29396135 )
2018
3
Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis. ( 29346172 )
2018
4
Compound heterozygous mutations with novel missense<i>ABCA12</i>mutation in harlequin ichthyosis. ( 29298786 )
2018
5
Whole-exome sequencing for diagnosis of hereditary ichthyosis. ( 29444371 )
2018
6
Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency. ( 29417556 )
2018
7
A Possible Case of Statin-Induced Ichthyosis in an Elderly Woman. ( 29383212 )
2018
8
Severe ectropion in lamellar ichthyosis managed medically with oral acitretin. ( 29334142 )
2018
9
Recurrent terbinafine resistant Trichophyton rubrum infection in a child with congenital ichthyosis. ( 29341312 )
2018
10
Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis. ( 29377090 )
2018
11
Ichthyosis with Confetti Inherited from a Mosaic Father. ( 29135017 )
2018
12
Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location. ( 29277919 )
2018
13
Superficial epidermolytic ichthyosis concomitant with atopic dermatitis. ( 29171394 )
2017
14
Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing-cholangitis syndrome without signs of liver disease. ( 28906553 )
2017
15
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. ( 28730607 )
2017
16
Pseudoainhum and autoamputation associated with lamellar ichthyosis. ( 28936990 )
2017
17
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26. ( 28158657 )
2017
18
X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report. ( 28934990 )
2017
19
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome IsA Caused by VPS33B Mutations AffectingA Rab Protein Interaction andA Collagen Modification. ( 28017832 )
2017
20
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. ( 28575648 )
2017
21
Whole Exome Sequencing Identified a Novel Frameshift Mutation in SDR9C7 underlying Autosomal Recessive Congenital Ichthyosis in a Pakistani Family. ( 28369735 )
2017
22
Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation. ( 27868147 )
2017
23
Keratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection. ( 28635012 )
2017
24
Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature. ( 28884032 )
2017
25
Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 28591443 )
2017
26
Whole-Exome-Sequencing reveals small deletions in CASP14 in patients with autosomal recessive inherited ichthyosis. ( 27494380 )
2017
27
A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease. ( 28747283 )
2017
28
Vegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome. ( 28111777 )
2017
29
Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis. ( 28833017 )
2017
30
Treatment of ichthyosis vulgaris with a urea-based emulsion: videodermatoscopy and confocal microscopy evaluation. ( 29050444 )
2017
31
In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report. ( 28302098 )
2017
32
Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy. ( 28944608 )
2017
33
A Child with Epidermolytic Ichthyosis fromA aA Parent with Epidermolytic Nevus: RiskA Evaluation of Transmission from MosaicA toA Germline. ( 28532675 )
2017
34
Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10. ( 28556375 )
2017
35
Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities. ( 28913623 )
2017
36
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. ( 28403434 )
2017
37
Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome. ( 28839390 )
2017
38
Enhanced expression of genes related to xenobiotic metabolism in the skin of patients with atopic dermatitis but not with ichthyosis vulgaris. ( 28899689 )
2017
39
Cutaneous Melanoma in Association With Ichthyosis Vulgaris. ( 28902080 )
2017
40
Acral lamellar Ichthyosis - expanding the phenotype of temperature-sensitive keratinization disorders. ( 29194782 )
2017
41
PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. ( 28369476 )
2017
42
Harlequin Ichthyosis - A Case Report. ( 29341518 )
2017
43
Ichthyosis fetalis in Polled Hereford and Shorthorn calves. ( 28782451 )
2017
44
Surgical management of digital ischemia caused by constriction band formation in a patient with ichthyosis vulgaris. ( 29423165 )
2017
45
Decreased Skin Barrier Lipid Acylceramide and Differentiation-Dependent Gene Expression in Ichthyosis Gene Nipal4 Knockout Mice. ( 29174370 )
2017
46
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. ( 28122049 )
2017
47
Long term follow up of mucous membrane grafting for cicatricial ectropion in Ichthyosis: A case report. ( 28314226 )
2017
48
Ichthyosis, X-Linked ( 28846233 )
2017
49
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function. ( 28093717 )
2017
50
Identification of Mutations in SDR9C7 in 6 Families with Autosomal Recessive Congenital Ichthyosis. ( 28906551 )
2017

Variations for Ichthyosis

ClinVar genetic disease variations for Ichthyosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALOX12B NM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh37 Chromosome 17, 7979005: 7979005
2 ALOX12B NM_001139.2(ALOX12B): c.1859C> A (p.Pro620Gln) single nucleotide variant Pathogenic rs780420901 GRCh38 Chromosome 17, 8073215: 8073215
3 STS GRCh37/hg19 Xp22.31(chrX: 6497085-7910475) copy number loss Pathogenic GRCh37 Chromosome X, 6497085: 7910475

Copy number variations for Ichthyosis from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 264091 X 6000000 9500000 Deletion Ichthyosis

Expression for Ichthyosis

Search GEO for disease gene expression data for Ichthyosis.

Pathways for Ichthyosis

Pathways related to Ichthyosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 FLG KRT1 KRT10 KRT2 LOR SPINK5
2
Show member pathways
11.62 FLG KRT1 KRT10 KRT2 LOR SPINK5
3 10.32 ALOX12B ALOXE3

GO Terms for Ichthyosis

Cellular components related to Ichthyosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.8 ABCA12 ALDH3A2 CYP4F22 FLG SPINK5 STS
2 endoplasmic reticulum membrane GO:0005789 9.7 ALDH3A2 CERS3 CYP4F22 MBTPS2 SLC27A4 SPINK5
3 intermediate filament GO:0005882 9.56 FLG KRT1 KRT10 KRT2
4 cornified envelope GO:0001533 9.1 FLG KRT1 KRT10 KRT2 LOR TGM1
5 epidermal lamellar body GO:0097209 8.96 ABCA12 SPINK5
6 cytosol GO:0005829 10.15 ABCA12 ABHD5 ALOX12B ALOXE3 FLG GJB2

Biological processes related to Ichthyosis according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.92 ABHD5 ALOX12B ALOXE3 CERS3 MBTPS2 PNPLA1
2 keratinization GO:0031424 9.85 ABCA12 KRT1 KRT10 KRT2 LOR TGM1
3 fatty acid metabolic process GO:0006631 9.73 ABHD5 ALOX12B ALOXE3 SLC27A4
4 keratinocyte differentiation GO:0030216 9.73 ABCA12 CERS3 FLG KRT10 LOR TGM1
5 epidermis development GO:0008544 9.67 ALDH3A2 KRT2 STS
6 ceramide biosynthetic process GO:0046513 9.58 ALOX12B ALOXE3 CERS3
7 establishment of skin barrier GO:0061436 9.55 ABCA12 ALOX12B ALOXE3 FLG KRT1
8 lipid homeostasis GO:0055088 9.54 ABCA12 PNPLA1
9 arachidonic acid metabolic process GO:0019369 9.52 ALOX12B ALOXE3
10 linoleic acid metabolic process GO:0043651 9.51 ALOX12B ALOXE3
11 lipoxygenase pathway GO:0019372 9.48 ALOX12B ALOXE3
12 hepoxilin biosynthetic process GO:0051122 9.46 ALOX12B ALOXE3
13 peptide cross-linking GO:0018149 9.43 FLG KRT1 KRT10 KRT2 LOR TGM1
14 cornification GO:0070268 9.17 FLG KRT1 KRT10 KRT2 LOR SPINK5

Molecular functions related to Ichthyosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.5 ALOX12B ALOXE3 CYP4F22
2 structural molecule activity GO:0005198 9.35 FLG KRT1 KRT10 KRT2 LOR
3 triglyceride lipase activity GO:0004806 9.26 ABHD5 PNPLA1
4 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.16 ALOX12B ALOXE3
5 structural constituent of epidermis GO:0030280 9.02 FLG KRT1 KRT10 KRT2 LOR

Sources for Ichthyosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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