MCID: ICH004
MIFTS: 52

Ichthyosis malady

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

Aliases & Classifications for Ichthyosis

Aliases & Descriptions 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, autosomal recessive 4b and ichthyosis histrix, curth-macklin type, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis is TGM1 (Transglutaminase 1), and among its related pathways/superpathways are Keratinization and Prostaglandin 2 biosynthesis and metabolism FM. The drugs Bezafibrate and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and thyroid, and related phenotype is integument.

Wikipedia : 71 Ichthyosis (plural ichthyoses) is a heterogeneous family of at least 28, generalized, mostly genetic... more...

Related Diseases for Ichthyosis

Diseases in the Ichthyosis family:

Ichthyosis, Congenital, Autosomal Recessive 4a Ichthyosis, 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 1
Ichthyosis, Congenital, Autosomal Recessive 9 Ichthyosis, Congenital, Autosomal Recessive 2
Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 5
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 335)
id Related Disease Score Top Affiliating Genes
1 ichthyosis, autosomal recessive 4b 33.9 ABCA12 TGM1
2 ichthyosis histrix, curth-macklin type 33.0 FLG KRT1 KRT10 KRT2
3 squamous cell carcinoma 29.8 KRT1 KRT10
4 ichthyosis vulgaris 12.4
5 ichthyosis, x-linked 12.3
6 ichthyosis, congenital, autosomal recessive 11 12.3
7 ichthyosis, congenital, autosomal recessive 1 12.3
8 ichthyosis bullosa of siemens 12.3
9 ichthyosis, congenital, autosomal recessive 6 12.2
10 ichthyosis, congenital, autosomal recessive 8 12.2
11 ichthyosis, congenital, autosomal recessive 4a 12.2
12 ichthyosis, congenital, autosomal recessive 5 12.2
13 keratitis-ichthyosis-deafness syndrome 12.2
14 ichthyosis, congenital, autosomal recessive 3 12.2
15 ichthyosis, congenital, autosomal recessive 9 12.2
16 ichthyosis, congenital, autosomal recessive 10 12.2
17 ichthyosis, congenital, autosomal recessive 2 12.2
18 ichthyosis with confetti 12.2
19 ichthyosis prematurity syndrome 12.2
20 ichthyosis hystrix gravior 12.2
21 ichthyosis, congenital, autosomal recessive 7 12.1
22 vohwinkel syndrome with ichthyosis 12.1
23 exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like 12.1
24 ichthyosis, spastic quadriplegia, and mental retardation 12.1
25 ichthyosis, cyclic, with epidermolytic hyperkeratosis 12.1
26 epidermolytic ichthyosis 12.1
27 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 12.1
28 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 12.0
29 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 12.0
30 hystrix-like ichthyosis with deafness 12.0
31 autosomal recessive congenital ichthyosis 12.0
32 ichthyosis linearis circumflexa 12.0
33 congenital ichthyosiform erythroderma 11.9
34 exfoliative ichthyosis 11.9
35 kid syndrome 11.9
36 ichthyosis, acquired 11.8
37 netherton syndrome 11.8
38 ichthyosis--cheek--eyebrow syndrome 11.8
39 ichthyosis, follicular 11.8
40 dominant ichthyosis vulgaris 11.7
41 ichthyosis, hepatosplenomegaly, and cerebellar degeneration 11.7
42 chanarin-dorfman syndrome 11.7
43 osteosclerosis with ichthyosis and premature ovarian failure 11.7
44 ichthyosis lamellar 1 11.7
45 ichthyosis lamellar 3 11.7
46 sjogren-larsson syndrome 11.7
47 cataract and congenital ichthyosis 11.7
48 ichthyosis lamellar 2 11.7
49 ichthyosis, mental retardation, dwarfism, and renal impairment 11.7
50 epidermolytic hyperkeratosis 11.6

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 integument MP:0010771 9.28 ABCA12 ALDH3A2 ALOX12B ALOXE3 GJB2 KRT1

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 Androgen Antagonists Phase 2, Phase 3
8 Androgens Phase 2, Phase 3
9 Antineoplastic Agents, Hormonal Phase 2, Phase 3
10 Dermatologic Agents Phase 2, Phase 3,Phase 1
11 Hormone Antagonists Phase 2, Phase 3
12 Hormones Phase 2, Phase 3
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
14 liarozole 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
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 6447131 17753757
20
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
21
Adalimumab Approved Phase 2 331731-18-1 16219006
22 Analgesics Phase 1, Phase 2
23 Analgesics, Non-Narcotic Phase 1, Phase 2
24 Anti-Inflammatory Agents Phase 1, Phase 2
25 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
26 Antirheumatic Agents 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
1 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4
2 Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous Unknown status NCT01222000 Phase 3
3 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3
4 Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar Ichthyosis Completed NCT00282724 Phase 2, Phase 3
5 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3
6 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2
7 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome Completed NCT00208026 Phase 1, Phase 2
8 A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris Recruiting NCT03173547 Phase 2
9 A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis Recruiting NCT02864082 Phase 2
10 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2
11 Clinical Trial Using Humira in Netherton Syndrome Active, not recruiting NCT02113904 Phase 2
12 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2
13 A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome Completed NCT01428297 Phase 1
14 Gene Therapy for Netherton Syndrome Recruiting NCT01545323 Phase 1
15 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
16 Xeroderma Pigmentosum Patient Experiences Unknown status NCT01123694
17 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
18 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
19 Use of Fish Skin Extracellular Matrix (ECM) to Facilitate Chronic Wound Healing Completed NCT01348581
20 Healing of Punch Graft Wounds. Comparative Study Between MariGen and Oasis: a Non-inferiority Study Completed NCT01917591
21 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
22 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
23 A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
24 Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers Recruiting NCT01971957
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, Neutrophil, Eye, Liver, Brain

Publications for Ichthyosis

Articles related to Ichthyosis:

(show top 50) (show all 907)
id Title Authors Year
1
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. ( 27769845 )
2017
2
Prevalence of filaggrin gene mutations in patients with atopic dermatitis and ichthyosis vulgaris in Kyushu area of Japan and South Korea. ( 28143684 )
2017
3
Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis. ( 27735052 )
2017
4
Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis. ( 27722766 )
2017
5
Whole-Exome-Sequencing reveals small deletions in CASP14 in patients with autosomal recessive inherited ichthyosis. ( 27494380 )
2017
6
Targeted next-generation sequencing identifies 9 novel FLG variants in Chinese Han patients with ichthyosis vulgaris. ( 28407221 )
2017
7
Ichthyosis Prematurity Syndrome: From Fetus to Adulthood. ( 27224495 )
2016
8
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype. ( 27127007 )
2016
9
Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome. ( 27168232 )
2016
10
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. ( 27884779 )
2016
11
Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization. ( 27478344 )
2016
12
Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders. ( 27085231 )
2016
13
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. ( 27538420 )
2016
14
Expanding the Mutation SpectrumA ofA Ichthyosis with Confetti. ( 27664712 )
2016
15
A case of epidermolytic ichthyosis showing a very mild phenotype due to a novel tail extension mutation in KRT10. ( 27225831 )
2016
16
From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome. ( 26777423 )
2016
17
Successful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with Keratitis-Ichthyosis-Deafness syndrome: a case report. ( 27617521 )
2016
18
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. ( 26646773 )
2016
19
A Case of Syndromic X-linked Ichthyosis with LAcri-Weill Dyschondrosteosis. ( 26832328 )
2016
20
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. ( 28067622 )
2016
21
A rare association between constrictive pericarditis and congenital ichthyosis. ( 27808428 )
2016
22
Management of Epidermolytic Ichthyosis in the Newborn. ( 26842536 )
2016
23
Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation inA KRT1. ( 27283508 )
2016
24
Treatment of ichthyosis and hypernatremia in a patient with Netherton syndrome with a SPINK5 c.153delT mutation using kallikrein inhibiting ointment. ( 26889743 )
2016
25
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family. ( 26778108 )
2016
26
CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT. ( 27192889 )
2016
27
Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis. ( 27601192 )
2016
28
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. ( 27449533 )
2016
29
Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation. ( 27530091 )
2016
30
Ichthyosis congenita with biliary atresia: a rare association. ( 27824632 )
2016
31
Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis. ( 27920816 )
2016
32
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report. ( 27141831 )
2016
33
Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation. ( 27208707 )
2016
34
[Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris]. ( 27577213 )
2016
35
Keratitis-ichthyosis-deafness syndrome with recurrent pneumonia but no mucocutaneous infection. ( 27097757 )
2016
36
Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma. ( 27617465 )
2016
37
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. ( 27025581 )
2016
38
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India. ( 26783444 )
2016
39
Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond. ( 27667308 )
2016
40
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. ( 26691440 )
2016
41
Linear epidermolytic ichthyosis: detection of granular degeneration with shrinking nuclei showing focal parakeratosis. ( 26872854 )
2016
42
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature. ( 26596219 )
2016
43
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. ( 26581228 )
2016
44
Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy. ( 27237723 )
2016
45
Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma. ( 26620415 )
2016
46
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families. ( 27061915 )
2016
47
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. ( 27476651 )
2016
48
Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis. ( 26990434 )
2016
49
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. ( 26620441 )
2016
50
Oral squamous cell carcinoma in a patient with keratitis-ichthyosis-deafness syndrome: a rare case. ( 25758847 )
2015

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 NC_000023.10: g.(6497085_?)_(?_7910475)del 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
11.56 FLG KRT1 KRT10 KRT2 SPINK5 TGM1
2 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 endoplasmic reticulum membrane GO:0005789 9.72 ALDH3A2 CYP4F22 SLC27A4 SPINK5 STS
2 intracellular membrane-bounded organelle GO:0043231 9.63 ABCA12 ALDH3A2 CYP4F22 FLG SPINK5 STS
3 intermediate filament GO:0005882 9.56 FLG KRT1 KRT10 KRT2
4 cornified envelope GO:0001533 9.02 FLG KRT1 KRT10 KRT2 TGM1
5 epidermal lamellar body GO:0097209 8.96 ABCA12 SPINK5
6 cytosol GO:0005829 10.07 ABCA12 ALOX12B ALOXE3 FLG GJB2 KRT1

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.87 ALDH3A2 PNPLA1 SLC27A4 STS
2 lipid metabolic process GO:0006629 9.83 ALOX12B ALOXE3 PNPLA1 SLC27A4 STS
3 keratinization GO:0031424 9.72 ABCA12 KRT1 KRT10 KRT2 TGM1
4 fatty acid metabolic process GO:0006631 9.7 ALOX12B ALOXE3 SLC27A4
5 keratinocyte differentiation GO:0030216 9.67 ABCA12 FLG KRT10 TGM1
6 peptide cross-linking GO:0018149 9.65 FLG KRT1 KRT10 KRT2 TGM1
7 epidermis development GO:0008544 9.63 ALDH3A2 KRT2 STS
8 cornification GO:0070268 9.63 FLG KRT1 KRT10 KRT2 SPINK5 TGM1
9 sphingolipid metabolic process GO:0006665 9.56 ALOX12B ALOXE3
10 lipid homeostasis GO:0055088 9.55 ABCA12 PNPLA1
11 ceramide biosynthetic process GO:0046513 9.54 ALOX12B ALOXE3
12 arachidonic acid metabolic process GO:0019369 9.51 ALOX12B ALOXE3
13 linoleic acid metabolic process GO:0043651 9.49 ALOX12B ALOXE3
14 lipoxygenase pathway GO:0019372 9.48 ALOX12B ALOXE3
15 hepoxilin biosynthetic process GO:0051122 9.4 ALOX12B ALOXE3
16 skin epidermis development GO:0098773 9.26 FLG KRT1 KRT10 KRT2
17 establishment of skin barrier GO:0061436 9.02 ABCA12 ALOX12B ALOXE3 FLG KRT1

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 9.33 ALOX12B ALOXE3 CYP4F22
2 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.96 ALOX12B ALOXE3
3 structural constituent of epidermis GO:0030280 8.92 FLG KRT1 KRT10 KRT2

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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