MCID: ICH004
MIFTS: 54

Ichthyosis

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

Aliases & Classifications for Ichthyosis

MalaCards integrated aliases for Ichthyosis:

Name: Ichthyosis 12 74 58 29 54 6 43 15 39
Ichthyoses 12 71
Non-Syndromic Ichthyosis 12
Congenital Ichthyosis 71

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:1697
MeSH 43 D007057
MESH via Orphanet 44 D007057
UMLS via Orphanet 72 C0020757 C0020758
Orphanet 58 ORPHA79354
UMLS 71 C0020757 C0020758

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, x-linked, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis is TGM1 (Transglutaminase 1), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Liarozole and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and t cells, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 74 Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more... 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 Inherited Ichthyosis
Autosomal Ichthyosis Syndrome

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

(show top 50) (show all 747)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 4b 35.7 TGM1 PNPLA1 NIPAL4 LIPN KRT1 FLG
2 ichthyosis, x-linked 35.6 TGM1 STS PNPLA1 NIPAL4 FLG CYP4F22
3 autosomal recessive congenital ichthyosis 35.6 TGM1 STS SPINK5 SLC27A4 PNPLA1 NIPAL4
4 ichthyosis, congenital, autosomal recessive 1 35.6 TGM1 PNPLA1 NIPAL4 CYP4F22 CERS3 ALOXE3
5 ichthyosis vulgaris 35.6 TGM1 STS SPINK5 NIPAL4 KRT10 KRT1
6 keratitis-ichthyosis-deafness syndrome, autosomal dominant 35.4 TGM1 GJB2 CERS3
7 ichthyosis bullosa of siemens 35.3 KRT2 KRT10 KRT1
8 ichthyosis, congenital, autosomal recessive 7 35.3 TGM1 PNPLA1 NIPAL4 LIPN CYP4F22 CERS3
9 ichthyosis, congenital, autosomal recessive 2 35.2 ALOXE3 ALOX12B
10 ichthyosis, congenital, autosomal recessive 4a 35.1 TGM1 ABCA12
11 ichthyosis, cyclic, with epidermolytic hyperkeratosis 35.0 KRT10 KRT1
12 epidermolytic hyperkeratosis 34.8 TGM1 PNPLA1 NIPAL4 KRT2 KRT10 KRT1
13 erythroderma, ichthyosiform, congenital reticular 34.5 KRT10 KRT1
14 netherton syndrome 34.5 TGM1 SPINK5 FLG
15 keratinopathic ichthyosis 34.4 KRT2 KRT10 KRT1
16 autosomal dominant epidermolytic ichthyosis 34.2 KRT10 KRT1
17 self-improving collodion baby 33.6 TGM1 ALOXE3 ALOX12B
18 ectropion 33.5 TGM1 PNPLA1 NIPAL4 CYP4F22 ALOXE3 ALOX12B
19 x-linked chondrodysplasia punctata 2 33.3 TGM1 ALOXE3 ALOX12B ABCA12
20 keratosis 32.5 KRT10 KRT1 GJB2 FLG ABCA12
21 skin disease 32.2 TGM1 STS SPINK5 KRT10 KRT1 GJB2
22 palmoplantar keratosis 32.0 NIPAL4 KRT2 KRT10 KRT1 GJB2
23 dermatitis, atopic 31.7 SPINK5 IL2RB FLG CYP4F22
24 erythrokeratoderma 31.6 PNPLA1 GJB2 FLG ABHD5
25 epidermolysis bullosa 31.5 KRT10 KRT1 FLG
26 erythrokeratodermia variabilis et progressiva 1 31.3 TGM1 NIPAL4 KRT1 GJB2 ABCA12
27 nevus, epidermal 31.2 KRT10 KRT1 GJB2
28 palmoplantar keratoderma, epidermolytic 31.1 TGM1 KRT2 KRT10 KRT1 GJB2 FLG
29 epidermolysis bullosa simplex 31.1 KRT10 KRT1 FLG
30 lichen planus 30.8 KRT10 KRT1 FLG
31 papilloma 30.8 KRT10 KRT1 FLG
32 acrokeratosis verruciformis 30.8 TGM1 NIPAL4 CYP4F22 ALOX12B ABHD5 ABCA12
33 acanthoma 30.7 KRT10 KRT1
34 striate palmoplantar keratoderma 30.6 KRT10 KRT1
35 punctate palmoplantar keratoderma 30.5 GJB2 CERS3
36 ichthyosis, congenital, autosomal recessive 11 12.8
37 ichthyosis, congenital, autosomal recessive 5 12.8
38 ichthyosis, congenital, autosomal recessive 8 12.8
39 ichthyosis, congenital, autosomal recessive 6 12.8
40 ichthyosis, congenital, autosomal recessive 3 12.8
41 ichthyosis, congenital, autosomal recessive 9 12.7
42 ichthyosis, congenital, autosomal recessive 10 12.7
43 ichthyosis hystrix, curth-macklin type 12.7
44 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 12.7
45 ichthyosis prematurity syndrome 12.7
46 ichthyosis, spastic quadriplegia, and mental retardation 12.6
47 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 12.6
48 ichthyosis, hystrix-like, with deafness 12.6
49 ichthyosis, congenital, autosomal recessive 12 12.6
50 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 12.6

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 ABCA12 ABHD5 ALOXE3 CERS3 CLDN1 GJB2
2 homeostasis/metabolism MP:0005376 10 ABCA12 ABHD5 ALOX12B ALOXE3 CERS3 CLDN1
3 integument MP:0010771 9.8 ABCA12 ABHD5 ALOX12B ALOXE3 CERS3 CLDN1
4 mortality/aging MP:0010768 9.47 ABCA12 ABHD5 ALOX12B ALOXE3 CERS3 CLDN1

Drugs & Therapeutics for Ichthyosis

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liarozole Investigational Phase 2, Phase 3 115575-11-6
2 Protective Agents Phase 3
3 Monolaurin Phase 3
4 Hormone Antagonists Phase 2, Phase 3
5 Hormones Phase 2, Phase 3
6 Androgen Antagonists Phase 2, Phase 3
7 Antineoplastic Agents, Hormonal Phase 2, Phase 3
8 Androgens Phase 2, Phase 3
9
Ethanol Approved Phase 2 64-17-5 702
10
Isotretinoin Approved Phase 2 4759-48-2 5282379 5538
11
Trifarotene Approved, Investigational Phase 2 895542-09-3
12
Chitosan Experimental Phase 2 9012-76-4 71853
13 Hemostatics Phase 2
14 Chelating Agents Phase 2
15 Coagulants Phase 2
16 Dermatologic Agents Phase 2
17 Immunoglobulins Phase 2
18 Antibodies Phase 2
19
Acitretin Approved 55079-83-9, 69427-46-9 6437841
20
Promethazine Approved, Investigational 60-87-7 4927
21
Diphenhydramine Approved, Investigational 58-73-1, 147-24-0 3100
22
carbamide peroxide Approved 124-43-6
23 Lemon Balm
24 Pramoxine
25 Sunscreening Agents
26 Omega 3 Fatty Acid

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 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
2 A RANDOMIZED, DOUBLE BLIND, MULTI-CENTER CLINICAL STUDY TO TEST THE SAFETY AND EFFICACY OF T4N5 LIPOSOME LOTION ON PATIENTS WITH XERODERMA PIGMENTOSUM IN THE PROTECTION AGAINST ACTINIC KERATOSES Unknown status NCT00002811 Phase 3 liposomal T4N5 lotion
3 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3 monolaurin cream
4 A Randomized, Double-blind, Placebo-controlled Phase II/III Trial to Evaluate the Efficacy and Safety of 2 Doses of Oral Liarozole (75 mg od and 150 mg od) Given During 12 Weeks in Lamellar Ichthyosis Completed NCT00282724 Phase 2, Phase 3 Liarozole
5 A Randomized, Bilateral Comparison, Vehicle-Controlled, Safety and Tolerability Study of Topical PAT-001 for the Treatment of Congenital Ichthyosis Completed NCT02864082 Phase 2 PAT-001, 0.1%;PAT-001, 0.2%;Vehicle
6 A Randomized, Double-blind, Vehicle-controlled Study to Evaluate the Safety and Efficacy of 146-9251 Cream Applied Twice-daily for Six Weeks in Subjects With Ichthyosis Vulgaris Completed NCT03173547 Phase 2 146-9251 cream;Vehicle cream
7 Phase II Study of the Safety, Pharmacokinetics, and Exploratory Activity of Once Daily (QD) Topical Application of NS2 Cream to Treat Ichthyosis in Subjects With Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2 Active topical NS2 1% dermatologic cream;Vehicle placebo 0.0% NS2 dermatologic cream
8 A Randomized Controlled Trial of the Efficacy and Safety of a a Biofunctional Textile in the Management of Atopic Dermatitis Completed NCT01597817 Phase 2
9 A Randomized, Parallel, Double-Blind, Vehicle Controlled Study to Evaluate the Safety and Efficacy of Two Concentrations of Topical TMB-001 for the Treatment of Congenital Ichthyosis Recruiting NCT04154293 Phase 2 Isotretinoin
10 A Phase I/II Clinical Trial of Topical KB105, a Replication-incompetent, Non-integrating HSV-1 Vector Expressing Human Transglutaminase 1 (TGM1) for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI) Recruiting NCT04047732 Phase 1, Phase 2
11 A Phase 2 Randomized, Multicenter, Doubleblind, Vehicle Controlled, 12 Week, Safety, Efficacy & Systemic Exposure Study Followed by a 12 Week Open-label Extension of CD5789 in Adults and Adolescents With Autosomal Recessive Ichthyosis With Lamellar Scale Recruiting NCT03738800 Phase 2 CD5789 Cream 200 µg/g;CD5789 Cream 100 µg/g;CD5789 Cream Vehicle
12 A Multicenter Study With a Randomized, Double-Blind, Placebo-Controlled Period, Followed by an Open-Label Maintenance Dosing Period to Evaluate the Efficacy and Safety of Secukinumab in Patients With Ichthyoses Active, not recruiting NCT03041038 Phase 2 Secukinumab;Placebo
13 Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
14 Research Registry for Inherited Disorders of Keratinization Unknown status NCT00074685
15 Prevalence of Ophthalmological Abnormalities in Children and Adults Suffering From Hereditary Ichthyosis Unknown status NCT03464994
16 Xeroderma Pigmentosum: A Survey of Patient Experiences Unknown status NCT01123694
17 Standardized Skin Care Regimen in the Diaper Area: a Prospective, Randomized Clinical Study on Skin Barrier Function and Epidermal IL-1α Completed NCT01131403
18 Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses Completed NCT00001292
19 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
20 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
21 A Single Center, Clinical Study to Determine the Safety and Efficacy of an Avena Sativa Skincare Regimen for Therapy-Related Pruritus and Xerosis in Cancer Patients Completed NCT03796052
22 Regular Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients, Particularly in Xeroderma Pigmentosum and Basal Cell Nevus Syndrome Completed NCT00555633
23 Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
24 Evaluation of the Feasibility and Effect of Therapeutic Education Sessions Using an Internet Application in Hereditary Ichthyosis Recruiting NCT03641261
25 Defining the Skin and Blood Biomarkers of Ichthyosis Recruiting NCT03417856
26 Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients Recruiting NCT00605878
27 AAD-PEPR: Asthma and Atopic Dermatitis Validation of PROMIS Pediatric Instruments Sub-Study: Clinically Relevant Endpoints in Atopic Dermatitis in Children (CREAD-C)--Funded by Regeneron Recruiting NCT03051347
28 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
29 A Multi-center, Randomized Controlled Clinical Trial Evaluating the Effect of Omega3 Wound Fish Skin Graft in the Treatment of Diabetic Foot Ulcers Recruiting NCT04133493
30 Cancer Risk in Xeroderma Pigmentosum Heterozygotes Recruiting NCT00046189
31 Pilot Study: Epidemiological Survey and Genetic Analysis of Patients With Atopic Dermatitis in Hong Kong Recruiting NCT04154839
32 MariGen Fish Skin Compared to Cadaver Skin as a Temporary Covering for Full Thickness Burns: An Early Feasibility Trial Recruiting NCT03984331
33 Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation Recruiting NCT02089789
34 The XPAND Evaluation of a Personalised Adherence Intervention to Improve Photoprotection Behaviour in Adults With Xeroderma Pigmentosum (XP): Randomised Controlled Trial. Recruiting NCT03445052
35 Sjogren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers Active, not recruiting NCT01971957
36 Double Blinded Randomized Clinical Study of Carbamide as Moisturizer 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:

# Genetic test Affiliating Genes
1 Ichthyosis (disease) 29

Anatomical Context for Ichthyosis

MalaCards organs/tissues related to Ichthyosis:

40
Skin, Testes, T Cells, Bone, Liver, Eye, Thyroid

Publications for Ichthyosis

Articles related to Ichthyosis:

(show top 50) (show all 4066)
# Title Authors PMID Year
1
Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma. 54 61
20236940 2010
2
A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis. 54 61
20500210 2010
3
Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58). 54 61
20023287 2010
4
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 54 61
19890349 2010
5
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. 54 61
19863506 2010
6
Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. 61 54
19681860 2009
7
Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. 54 61
19212342 2009
8
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. 54 61
19401457 2009
9
Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs. 61 54
19438474 2009
10
Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants. 54 61
19122646 2009
11
Filaggrin in the frontline: role in skin barrier function and disease. 54 61
19386895 2009
12
Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. 54 61
18843291 2009
13
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. 54 61
18948357 2009
14
CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes. 61 54
18832586 2008
15
Granulocytic nuclear differentiation of lamin B receptor-deficient mouse EPRO cells. 61 54
18495328 2008
16
Mouse neutrophils lacking lamin B-receptor expression exhibit aberrant development and lack critical functional responses. 54 61
18550262 2008
17
An update on molecular aspects of the non-syndromic ichthyoses. 54 61
18341575 2008
18
Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome. 61 54
17971613 2008
19
Characterization of bovine TGM1 and exclusion as candidate gene for ichthyosis in Chianina. 54 61
18165261 2008
20
Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form. 54 61
18086569 2008
21
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome. 54 61
17603054 2007
22
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. 54 61
17255957 2007
23
Epidermal lipoxygenase products of the hepoxilin pathway selectively activate the nuclear receptor PPARalpha. 54 61
17436029 2007
24
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. 54 61
16977323 2007
25
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. 61 54
16968736 2006
26
Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. 54 61
16908342 2006
27
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). 61 54
16741516 2006
28
Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene. 54 61
16549731 2006
29
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome. 54 61
16476818 2006
30
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. 54 61
16417221 2006
31
A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene. 61 54
16120162 2005
32
Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. 61 54
16029326 2005
33
Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome. 61 54
15834613 2005
34
LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum. 54 61
15675955 2005
35
Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. 61 54
15629692 2005
36
Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome. 54 61
15590704 2005
37
Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation. 61 54
15127008 2004
38
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). 54 61
15102081 2004
39
Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. 54 61
14708602 2003
40
Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. 54 61
12850625 2003
41
The molecular genetics of keratin disorders. 54 61
12688839 2003
42
Male-pattern baldness is common in men with X-linked recessive ichthyosis. 61 54
14571075 2003
43
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly. 54 61
12490533 2003
44
Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis. 54 61
11676820 2001
45
Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis. 54 61
11511296 2001
46
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 54 61
11531804 2001
47
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. 54 61
11558869 2001
48
Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. 54 61
11286616 2001
49
Pitfalls in the diagnosis of multiple sulfatase deficiency. 54 61
11315200 2001
50
Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome. 61 54
11306053 2001

Variations for Ichthyosis

ClinVar genetic disease variations for Ichthyosis:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IL2RB NM_000878.5(IL2RB):c.286C>T (p.Gln96Ter)SNV Pathogenic 545515 rs1569044747 22:37535259-37535259 22:37139219-37139219
2 PNPLA1 NM_173676.2(PNPLA1):c.102C>A (p.Asp34Glu)SNV Pathogenic 617846 rs200806519 6:36259278-36259278 6:36291501-36291501
3 ALOXE3 NC_000017.10:g.8017293_8022591delinsCindel Pathogenic 617845 17:8017293-8022591 17:8113975-8119273
4 PNPLA4 , PUDP , STS , VCX GRCh37/hg19 Xp22.31(chrX:6497085-7910475)copy number loss Pathogenic 625683 X:6497085-7910475
5 STS deletion Pathogenic 813270 X:6453783-8133115
6 ALOX12B NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)SNV Pathogenic 39546 rs199766569 17:7979005-7979005 17:8075687-8075687
7 TGM1 NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg)SNV Pathogenic 217304 rs863223405 14:24727530-24727530 14:24258324-24258324
8 ALOXE3 NM_001165960.1(ALOXE3):c.814C>T (p.Arg272Ter)SNV Pathogenic 217301 rs370031870 17:8018941-8018941 17:8115623-8115623
9 TGM1 NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter)duplication Pathogenic 372530 rs1057517836 14:24731001-24731002 14:24261795-24261796
10 FLG NM_002016.1(FLG):c.544A>T (p.Lys182Ter)SNV Pathogenic 523448 rs1218912272 1:152286818-152286818 1:152314342-152314342
11 ALOX12B NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln)SNV Pathogenic 374101 rs780420901 17:7976533-7976533 17:8073215-8073215
12 STS GRCh37/hg19 Xp22.31(chrX:6497085-7910475)copy number loss Pathogenic 374374 X:6497085-7910475
13 TGM1 NM_000359.3(TGM1):c.428G>A (p.Arg143His)SNV Pathogenic/Likely pathogenic 12481 rs121918719 14:24730981-24730981 14:24261775-24261775
14 COL7A1 NM_000094.3(COL7A1):c.1442G>A (p.Arg481His)SNV Likely pathogenic 373954 rs147040026 3:48629171-48629171 3:48591738-48591738
15 CYP4F22 NM_173483.4(CYP4F22):c.1211T>C (p.Leu404Pro)SNV Uncertain significance 523566 rs1555730246 19:15658993-15658993 19:15548182-15548182
16 CYP4F22 NM_173483.4(CYP4F22):c.1544G>T (p.Arg515Leu)SNV Uncertain significance 523567 rs1425964436 19:15662230-15662230 19:15551419-15551419
17 FLG NM_002016.1(FLG):c.10012A>T (p.Ser3338Cys)SNV Uncertain significance 523447 rs1553211230 1:152277350-152277350 1:152304874-152304874

Copy number variations for Ichthyosis from CNVD:

7
# CNVD ID Chromosome 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
12.71 TGM1 SPINK5 KRT2 KRT10 KRT1 IL2RB
2
Show member pathways
11.56 TGM1 SPINK5 KRT2 KRT10 KRT1 FLG
3 10.52 ALOXE3 ALOX12B

GO Terms for Ichthyosis

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.03 TGM1 SPINK5 KRT2 KRT10 KRT1 IL2RB
2 intermediate filament GO:0005882 9.46 KRT2 KRT10 KRT1 FLG
3 cornified envelope GO:0001533 9.02 TGM1 KRT2 KRT10 KRT1 FLG
4 epidermal lamellar body GO:0097209 8.96 SPINK5 ABCA12

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.92 STS SLC27A4 PNPLA1 LIPN CERS3 ALOXE3
2 keratinization GO:0031424 9.8 TGM1 KRT2 KRT10 KRT1 ABCA12
3 fatty acid metabolic process GO:0006631 9.78 SLC27A4 ALOXE3 ALOX12B ABHD5
4 epidermis development GO:0008544 9.72 STS KRT2 CERS3
5 sphingolipid metabolic process GO:0006665 9.67 CERS3 ALOXE3 ALOX12B
6 ceramide biosynthetic process GO:0046513 9.67 CYP4F22 CERS3 ALOXE3 ALOX12B
7 keratinocyte differentiation GO:0030216 9.65 TGM1 KRT10 FLG CERS3 ABCA12
8 lipid homeostasis GO:0055088 9.61 PNPLA1 ABHD5 ABCA12
9 linoleic acid metabolic process GO:0043651 9.56 ALOXE3 ALOX12B
10 peptide cross-linking GO:0018149 9.55 TGM1 KRT2 KRT10 KRT1 FLG
11 lipoxygenase pathway GO:0019372 9.54 ALOXE3 ALOX12B
12 protein heterotetramerization GO:0051290 9.52 KRT10 KRT1
13 hepoxilin biosynthetic process GO:0051122 9.51 ALOXE3 ALOX12B
14 positive regulation of epidermis development GO:0045684 9.46 KRT2 KRT10
15 establishment of skin barrier GO:0061436 9.43 KRT1 FLG CLDN1 ALOXE3 ALOX12B ABCA12
16 cornification GO:0070268 9.23 TGM1 SPINK5 LIPN KRT2 KRT10 KRT1

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.43 CYP4F22 ALOXE3 ALOX12B
2 triglyceride lipase activity GO:0004806 9.16 PNPLA1 ABHD5
3 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.96 ALOXE3 ALOX12B
4 structural constituent of epidermis GO:0030280 8.92 KRT2 KRT10 KRT1 FLG

Sources for Ichthyosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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