MCID: ICH004
MIFTS: 53

Ichthyosis

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

Aliases & Classifications for Ichthyosis

MalaCards integrated aliases for Ichthyosis:

Name: Ichthyosis 12 29 52 42 14
Ichthyoses 12 69
Non-Syndromic Ichthyosis 12
Congenital Ichthyosis 69

Classifications:



External Ids:

Disease Ontology 12 DOID:1697
MeSH 42 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 4b and ichthyosis histrix, curth-macklin type, 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 4a Ichthyosis, Congenital, Autosomal Recessive 4b
Ichthyosis, Congenital, Autosomal Recessive 6 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 11
Ichthyosis, Congenital, Autosomal Recessive 7 Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Congenital, Autosomal Recessive 1 Ichthyosis, Congenital, Autosomal Recessive 9
Ichthyosis, Congenital, Autosomal Recessive 2 Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Congenital, Autosomal Recessive 5 Ichthyosis, Congenital, Autosomal Recessive 12
Ichthyosis, Congenital, Autosomal Recessive 14 Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Acquired Abca12-Related Autosomal Recessive Congenital Ichthyosis
Alox12b-Related Autosomal Recessive Congenital Ichthyosis Aloxe3-Related Autosomal Recessive Congenital Ichthyosis
Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis Lipn-Related Autosomal Recessive Congenital Ichthyosis
Pnpla1-Related Autosomal Recessive Congenital Ichthyosis St14-Related Autosomal Recessive Congenital Ichthyosis
Tgm1-Related Autosomal Recessive Congenital Ichthyosis

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

(show top 50) (show all 337)
id Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 4b 34.7 ABCA12 TGM1
2 ichthyosis histrix, curth-macklin type 34.0 KRT1 KRT10
3 hystrix-like ichthyosis with deafness 33.9 GJB2 SLC27A4
4 ichthyosis vulgaris 32.9 ABCA12 FLG KRT1 LOR STS TGM1
5 ichthyosis, cyclic, with epidermolytic hyperkeratosis 32.6 FLG KRT1 KRT10 KRT2 LOR
6 ichthyosis, congenital, autosomal recessive 3 32.3 ALOX12B ALOXE3 LOR NIPAL4 SPINK5 TGM1
7 squamous cell carcinoma 30.5 KRT1 KRT10
8 ichthyosis, x-linked 12.4
9 ichthyosis bullosa of siemens 12.3
10 ichthyosis, congenital, autosomal recessive 11 12.3
11 ichthyosis, congenital, autosomal recessive 1 12.2
12 ichthyosis, congenital, autosomal recessive 4a 12.2
13 keratitis-ichthyosis-deafness syndrome 12.2
14 ichthyosis, congenital, autosomal recessive 8 12.2
15 ichthyosis, congenital, autosomal recessive 6 12.2
16 ichthyosis, congenital, autosomal recessive 5 12.2
17 ichthyosis, congenital, autosomal recessive 9 12.2
18 ichthyosis, congenital, autosomal recessive 10 12.2
19 ichthyosis, congenital, autosomal recessive 2 12.2
20 ichthyosis with confetti 12.2
21 ichthyosis prematurity syndrome 12.2
22 ichthyosis hystrix gravior 12.1
23 ichthyosis, congenital, autosomal recessive 7 12.1
24 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 12.1
25 ichthyosis, spastic quadriplegia, and mental retardation 12.1
26 vohwinkel syndrome with ichthyosis 12.1
27 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 12.0
28 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 12.0
29 autosomal recessive congenital ichthyosis 12.0
30 ichthyosis, congenital, autosomal recessive 12 12.0
31 congenital ichthyosiform erythroderma 12.0
32 ichthyosis--cheek--eyebrow syndrome 12.0
33 ichthyosis linearis circumflexa 11.9
34 ichthyosis follicularis atrichia photophobia syndrome 11.9
35 exfoliative ichthyosis 11.9
36 ichthyosis lamellar 1 11.9
37 ichthyosis lamellar 2 11.9
38 ichthyosis, mental retardation, dwarfism, and renal impairment 11.9
39 ichthyosis lamellar 3 11.9
40 kid syndrome 11.9
41 ichthyosis tapered fingers midline groove up 11.9
42 ichthyosis lamellar, autosomal dominant 11.8
43 epidermolytic hyperkeratosis 11.8
44 ichthyosis, acquired 11.8
45 exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like 11.8
46 netherton syndrome 11.7
47 ichthyosis, follicular 11.7
48 ichthyosis, hepatosplenomegaly, and cerebellar degeneration 11.7
49 osteosclerosis with ichthyosis and premature ovarian failure 11.7
50 dominant ichthyosis vulgaris 11.7

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 ABCA12 ABHD5 ALDH3A2 ALOX12B ALOXE3 CERS3
2 integument MP:0010771 9.36 GJB2 KRT1 SLC27A4 SPINK5 TGM1 ABCA12

Drugs & Therapeutics for Ichthyosis

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

(show all 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved 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 6447131 17753757
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 6437841 5284513
35 Keratolytic Agents
36 Radiation-Protective Agents
37 Sunscreening Agents

Interventional clinical trials:

(show all 33)

id 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 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
7 Clinical Trial Using Humira in Netherton Syndrome Completed NCT02113904 Phase 2 Adalimumab
8 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome Completed NCT00208026 Phase 1, Phase 2 Pimecrolimus 1% Cream
9 A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris Recruiting NCT03173547 Phase 2 146-9251 cream;Vehicle cream
10 A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis Recruiting NCT02864082 Phase 2 PAT-001, 0.1%;PAT-001, 0.2%;Vehicle
11 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2 Secukinumab;Placebo
12 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
13 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)
14 Gene Therapy for Netherton Syndrome Recruiting NCT01545323 Phase 1
15 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
16 Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers Unknown status NCT01971957
17 Xeroderma Pigmentosum Patient Experiences Unknown status NCT01123694
18 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
19 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
20 Use of Fish Skin Extracellular Matrix (ECM) to Facilitate Chronic Wound Healing Completed NCT01348581
21 Healing of Punch Graft Wounds. Comparative Study Between MariGen and Oasis: a Non-inferiority Study Completed NCT01917591
22 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
23 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
24 A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
25 Asthma and Atopic Dermatitis Validation of PROMIS Pediatric Instruments Recruiting NCT03051347
26 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
27 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
28 Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum Recruiting NCT00046189
29 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
30 Natural History and Biological Study of Netherton Syndrome Recruiting NCT02081313
31 Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Recruiting NCT02830763
32 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
33 Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis Vulgaris Enrolling by invitation NCT02978209

Search NIH Clinical Center for Ichthyosis

Cochrane evidence based reviews: ichthyosis

Genetic Tests for Ichthyosis

Genetic tests related to Ichthyosis:

id Genetic test Affiliating Genes
1 Ichthyosis 29

Anatomical Context for Ichthyosis

MalaCards organs/tissues related to Ichthyosis:

39
Skin, Testes, Thyroid, Liver, Neutrophil, Eye, Brain

Publications for Ichthyosis

Articles related to Ichthyosis:

(show top 50) (show all 950)
id Title Authors Year
1
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. ( 28403545 )
2017
2
Ichthyosis Uteri Associated with Endometrial Adenocarcinoma: A Case Report. ( 28764184 )
2017
3
Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature. ( 28884032 )
2017
4
Targeted next-generation sequencing identifies 9 novel FLG variants in Chinese Han patients with ichthyosis vulgaris. ( 28407221 )
2017
5
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. ( 28403434 )
2017
6
Keratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection. ( 28635012 )
2017
7
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. ( 28122049 )
2017
8
Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management. ( 28554884 )
2017
9
Enhanced expression of genes related to xenobiotic metabolism in the skin of patients with atopic dermatitis but not with ichthyosis vulgaris. ( 28899689 )
2017
10
X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report. ( 28934990 )
2017
11
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. ( 28730607 )
2017
12
Whole-Exome-Sequencing reveals small deletions in CASP14 in patients with autosomal recessive inherited ichthyosis. ( 27494380 )
2017
13
Ectropion Improvement with Topical Tazarotene in Children with Lamellar Ichthyosis. ( 28815772 )
2017
14
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome IsA Caused by VPS33B Mutations AffectingA Rab Protein Interaction andA Collagen Modification. ( 28017832 )
2017
15
An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. ( 27554821 )
2017
16
Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis. ( 28833017 )
2017
17
Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities. ( 28913623 )
2017
18
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. ( 27769845 )
2017
19
Whole Exome Sequencing Identified a Novel Frameshift Mutation in SDR9C7 underlying Autosomal Recessive Congenital Ichthyosis in a Pakistani Family. ( 28369735 )
2017
20
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes. ( 28875980 )
2017
21
Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10. ( 28556375 )
2017
22
Pseudoainhum and autoamputation associated with lamellar ichthyosis. ( 28936990 )
2017
23
Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 28591443 )
2017
24
Ichthyosis, X-Linked ( 28846233 )
2017
25
Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing-cholangitis syndrome without signs of liver disease. ( 28906553 )
2017
26
A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease. ( 28747283 )
2017
27
Harlequin ichthyosis: A rare case. ( 28913151 )
2017
28
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. ( 28575648 )
2017
29
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26. ( 28158657 )
2017
30
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
31
Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome. ( 28839390 )
2017
32
Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis. ( 27735052 )
2017
33
Ichthyosis fetalis in Polled Hereford and Shorthorn calves. ( 28782451 )
2017
34
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
35
Prevalence of filaggrin gene mutations in patients with atopic dermatitis and ichthyosis vulgaris in Kyushu area of Japan and South Korea. ( 28143684 )
2017
36
Cutaneous Melanoma in Association With Ichthyosis Vulgaris. ( 28902080 )
2017
37
Lamellar ichthyosis associated bilateral pseudoainhum of fingers and toes successfully treated with tazarotene. ( 28730635 )
2017
38
Vegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome. ( 28111777 )
2017
39
Long term follow up of mucous membrane grafting for cicatricial ectropion in Ichthyosis: A case report. ( 28314226 )
2017
40
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
41
Identification of Mutations in SDR9C7 in 6 Families with Autosomal Recessive Congenital Ichthyosis. ( 28906551 )
2017
42
Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis. ( 27722766 )
2017
43
In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report. ( 28302098 )
2017
44
A case of epidermolytic ichthyosis showing a very mild phenotype due to a novel tail extension mutation in KRT10. ( 27225831 )
2016
45
Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome. ( 27168232 )
2016
46
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report. ( 27141831 )
2016
47
Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis. ( 27601192 )
2016
48
Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation. ( 27530091 )
2016
49
From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome. ( 26777423 )
2016
50
Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation. ( 27208707 )
2016

Variations for Ichthyosis

ClinVar genetic disease variations for Ichthyosis:

6
id 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 GRCh37 Chromosome 17, 7976533: 7976533
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
id 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:

id 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:

id 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 15)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.97 ABHD5 ALOX12B ALOXE3 CERS3 MBTPS2 PNPLA1
2 keratinization GO:0031424 9.88 ABCA12 KRT1 KRT10 KRT2 LOR TGM1
3 keratinocyte differentiation GO:0030216 9.8 ABCA12 CERS3 FLG KRT10 LOR TGM1
4 fatty acid metabolic process GO:0006631 9.76 ABHD5 ALOX12B ALOXE3 SLC27A4
5 epidermis development GO:0008544 9.7 ALDH3A2 KRT2 STS
6 establishment of skin barrier GO:0061436 9.65 ABCA12 ALOX12B ALOXE3 FLG KRT1
7 peptide cross-linking GO:0018149 9.63 FLG KRT1 KRT10 KRT2 LOR TGM1
8 ceramide biosynthetic process GO:0046513 9.61 ALOX12B ALOXE3 CERS3
9 lipid homeostasis GO:0055088 9.55 ABCA12 PNPLA1
10 arachidonic acid metabolic process GO:0019369 9.54 ALOX12B ALOXE3
11 linoleic acid metabolic process GO:0043651 9.51 ALOX12B ALOXE3
12 cornification GO:0070268 9.5 FLG KRT1 KRT10 KRT2 LOR SPINK5
13 lipoxygenase pathway GO:0019372 9.49 ALOX12B ALOXE3
14 hepoxilin biosynthetic process GO:0051122 9.48 ALOX12B ALOXE3
15 skin epidermis development GO:0098773 9.02 FLG KRT1 KRT10 KRT2 LOR

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

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.5 ALOX12B ALOXE3 CYP4F22
2 triglyceride lipase activity GO:0004806 9.26 ABHD5 PNPLA1
3 structural molecule activity GO:0005198 9.26 FLG KRT1 KRT2 LOR
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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