MCID: ICH004
MIFTS: 56

Ichthyosis

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

Aliases & Classifications for Ichthyosis

MalaCards integrated aliases for Ichthyosis:

Name: Ichthyosis 12 74 58 29 54 6 44 15 39
Congenital Ichthyosis 71 32
Ichthyoses 12 71
Non-Syndromic Ichthyosis 12

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:1697
MeSH 44 D007057
ICD10 32 Q80 Q80.9
MESH via Orphanet 45 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 congenital ichthyosis, is related to ichthyosis, congenital, autosomal recessive 4b and autosomal recessive congenital ichthyosis, 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, eye and neutrophil, 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 746)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 4b 33.7 TGM1 PNPLA1 NIPAL4 KRT1 FLG CYP4F22
2 autosomal recessive congenital ichthyosis 33.6 TGM1 STS SPINK5 SLC27A4 PNPLA1 NIPAL4
3 ichthyosis, congenital, autosomal recessive 1 33.6 TGM1 PNPLA1 NIPAL4 KRT2 CYP4F22 CERS3
4 ichthyosis vulgaris 33.6 TGM1 STS SPINK5 PNPLA1 NIPAL4 KRT10
5 ichthyosis bullosa of siemens 33.4 KRT2 KRT10 KRT1
6 ichthyosis, congenital, autosomal recessive 4a 33.4 TGM1 ABCA12
7 keratitis-ichthyosis-deafness syndrome, autosomal dominant 33.4 TGM1 CERS3
8 epidermolytic hyperkeratosis 33.3 TGM1 STS PNPLA1 NIPAL4 KRT2 KRT10
9 erythroderma, ichthyosiform, congenital reticular 33.3 KRT10 KRT1
10 ichthyosis, congenital, autosomal recessive 7 33.2 TGM1 PNPLA1 NIPAL4 CYP4F22 CERS3 ALOXE3
11 ichthyosis, congenital, autosomal recessive 2 33.2 ALOXE3 ALOX12B
12 ichthyosis, cyclic, with epidermolytic hyperkeratosis 33.2 KRT10 KRT1
13 ifap syndrome 1, with or without bresheck syndrome 33.1 TGM1 SPINK5
14 ichthyosis, x-linked 33.0 TGM1 STS SPINK5 PNPLA4 PNPLA1 NIPAL4
15 netherton syndrome 33.0 TGM1 SPINK5 FLG
16 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 32.8 NIPAL4 ALOXE3 ALOX12B ABCA12
17 ectropion 32.4 TGM1 PNPLA1 NIPAL4 CYP4F22 ALOXE3 ALOX12B
18 keratinopathic ichthyosis 32.2 KRT2 KRT10 KRT1
19 x-linked chondrodysplasia punctata 2 32.2 TGM1 ALOXE3 ALOX12B ABCA12
20 keratosis 32.1 TGM1 KRT10 KRT1 FLG ABCA12
21 self-improving collodion baby 32.1 TGM1 ALOXE3 ALOX12B
22 nephrotic syndrome, type 14 32.0 CERS3 ALDH3A2
23 autosomal dominant epidermolytic ichthyosis 32.0 KRT10 KRT1
24 skin disease 31.7 TGM1 STS SPINK5 KRT10 KRT1 FLG-AS1
25 erythrokeratoderma 31.2 PNPLA1 FLG ABHD5
26 epidermolysis bullosa 31.2 KRT10 KRT1 FLG
27 dermatitis 31.1 SPINK5 IL2RB FLG-AS1 FLG
28 dermatitis, atopic 31.1 SPINK5 IL2RB FLG CYP4F22
29 erythrokeratodermia variabilis et progressiva 1 30.9 TGM1 NIPAL4 KRT10 KRT1 ABCA12
30 epidermolysis bullosa simplex 30.7 KRT10 KRT1 FLG
31 papilloma 30.7 KRT10 KRT1 FLG
32 tinea corporis 30.7 SPINK5 FLG
33 palmoplantar keratoderma, epidermolytic 30.5 KRT2 KRT10 KRT1
34 lichen planus 30.5 KRT10 KRT1 FLG
35 acrokeratosis verruciformis 30.4 TGM1 NIPAL4 CYP4F22 ALOX12B ABHD5 ABCA12
36 dermatitis, atopic, 2 30.3 FLG-AS1 FLG
37 acanthoma 30.3 KRT10 KRT1
38 clear cell acanthoma 30.3 KRT10 FLG
39 striate palmoplantar keratoderma 30.3 KRT10 KRT1
40 seborrheic dermatitis 30.0 SPINK5 FLG
41 ichthyosis, congenital, autosomal recessive 11 11.7
42 ichthyosis, congenital, autosomal recessive 5 11.7
43 ichthyosis, congenital, autosomal recessive 8 11.7
44 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.6
45 ichthyosis, congenital, autosomal recessive 6 11.6
46 ichthyosis, congenital, autosomal recessive 3 11.6
47 ichthyosis prematurity syndrome 11.6
48 ichthyosis hystrix, curth-macklin type 11.6
49 ichthyosis, congenital, autosomal recessive 9 11.6
50 ichthyosis, congenital, autosomal recessive 10 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 ABCA12 ABHD5 ALOXE3 CERS3 CYP4F22 IL2RB
2 homeostasis/metabolism MP:0005376 9.97 ABCA12 ABHD5 ALDH3A2 ALOX12B ALOXE3 CERS3
3 integument MP:0010771 9.8 ABCA12 ABHD5 ALDH3A2 ALOX12B ALOXE3 CERS3
4 mortality/aging MP:0010768 9.44 ABCA12 ABHD5 ALOX12B ALOXE3 CERS3 CYP4F22

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 5538 5282379
11
Trifarotene Approved, Investigational Phase 2 895542-09-3
12 Dermatologic Agents Phase 2
13 Immunoglobulins Phase 2
14 Antibodies Phase 2
15 Antibodies, Monoclonal Phase 2
16
Ipilimumab Approved Phase 1 477202-00-9
17
nivolumab Approved Phase 1 946414-94-4
18 Antineoplastic Agents, Immunological Phase 1
19
carbamide peroxide Approved 124-43-6
20
Diphenhydramine Approved, Investigational 147-24-0, 58-73-1 3100
21
Promethazine Approved, Investigational 60-87-7 4927
22
Ustekinumab Approved, Investigational Early Phase 1 815610-63-0
23 Lemon Balm
24 Pramoxine
25 Sunscreening Agents
26 Omega 3 Fatty Acid

Interventional clinical trials:

(show all 35)
# 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 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 Completed NCT03041038 Phase 2 Secukinumab;Placebo
7 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
8 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
9 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
10 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
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 Phase 2, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of ANB019 in the Treatment of Subjects With Ichthyosis Not yet recruiting NCT04697056 Phase 2 ANB019
13 Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
14 3CI Study: Childhood Cancer Combination Immunotherapy. Phase Ib and Expansion Study of Nivolumab Combination Immunotherapy in Children, Adolescent, and Young Adult (CAYA) Patients With Relapsed/Refractory Hypermutant Cancers Not yet recruiting NCT04500548 Phase 1
15 Prevalence of Ophthalmological Abnormalities in Children and Adults Suffering From Hereditary Ichthyosis Unknown status NCT03464994
16 Research Registry for Inherited Disorders of Keratinization Unknown status NCT00074685
17 Double Blinded Randomized Clinical Study of Carbamide as Moisturizer in Ichthyosis Vulgaris Unknown status NCT02978209
18 Xeroderma Pigmentosum: A Survey of Patient Experiences Unknown status NCT01123694
19 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
20 Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses Completed NCT00001292
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 The XPAND Evaluation of a Personalised Adherence Intervention to Improve Photoprotection Behaviour in Adults With Xeroderma Pigmentosum (XP): Randomised Controlled Trial. Completed NCT03445052
23 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
24 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 Completed NCT03051347
25 Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients Recruiting NCT00605878
26 Defining the Skin and Blood Biomarkers of Ichthyosis Recruiting NCT03417856
27 Evaluation of the Feasibility and Effect of Therapeutic Education Sessions Using an Internet Application in Hereditary Ichthyosis Recruiting NCT03641261
28 Cancer Risk in Xeroderma Pigmentosum Heterozygotes Recruiting NCT00046189
29 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
30 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
31 Sjogren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers Active, not recruiting NCT01971957
32 MariGen Fish Skin Compared to Cadaver Skin as a Temporary Covering for Full Thickness Burns: An Early Feasibility Trial Active, not recruiting NCT03984331
33 An Open-Label and Long-Term Extension Study to Evaluate the Efficacy and Safety of Ustekinumab in the Treatment of Patients With Ichthyoses. Not yet recruiting NCT04549792 Early Phase 1 Ustekinumab
34 The Role Of Neutrophil Proteases As Global Regulators Of Il-1 Family Cytokine Activity In Skin Disorders Not yet recruiting NCT04750161
35 Prospective Evaluation of Infants and Children With Congenital Ichthyosis Terminated NCT02655861

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, Eye, Neutrophil, Thyroid, Lymph Node, Breast, Testis

Publications for Ichthyosis

Articles related to Ichthyosis:

(show top 50) (show all 4193)
# Title Authors PMID Year
1
Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma. 61 54
20236940 2010
2
A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis. 61 54
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
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. 61 54
19863506 2010
5
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 54 61
19890349 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
Comèl-Netherton syndrome defined as primary immunodeficiency. 61 54
19683336 2009
8
Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. 54 61
19212342 2009
9
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. 61 54
19401457 2009
10
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. 61 54
19556108 2009
11
Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs. 54 61
19438474 2009
12
Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants. 54 61
19122646 2009
13
Filaggrin in the frontline: role in skin barrier function and disease. 61 54
19386895 2009
14
Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. 61 54
18843291 2009
15
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. 54 61
18948357 2009
16
Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients. 54 61
19197545 2009
17
CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes. 61 54
18832586 2008
18
Mouse neutrophils lacking lamin B-receptor expression exhibit aberrant development and lack critical functional responses. 61 54
18550262 2008
19
Granulocytic nuclear differentiation of lamin B receptor-deficient mouse EPRO cells. 54 61
18495328 2008
20
An update on molecular aspects of the non-syndromic ichthyoses. 61 54
18341575 2008
21
Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome. 61 54
17971613 2008
22
Characterization of bovine TGM1 and exclusion as candidate gene for ichthyosis in Chianina. 61 54
18165261 2008
23
Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form. 54 61
18086569 2008
24
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome. 54 61
17603054 2007
25
Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. 54 61
17635512 2007
26
The hepoxilin connection in the epidermis. 54 61
17608720 2007
27
Epidermal lipoxygenase products of the hepoxilin pathway selectively activate the nuclear receptor PPARalpha. 54 61
17436029 2007
28
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. 61 54
17255957 2007
29
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. 61 54
17139268 2007
30
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. 61 54
16977323 2007
31
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. 61 54
16968736 2006
32
Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. 61 54
16908342 2006
33
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). 54 61
16741516 2006
34
Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome. 54 61
16525484 2006
35
Plasminogen activator inhibitor-2 is expressed in different types of congenital ichthyosis: in vivo evidence for its cross-linking into the cornified cell envelope by transglutaminase-1. 61 54
16634887 2006
36
Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene. 61 54
16549731 2006
37
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome. 54 61
16476818 2006
38
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. 61 54
16417221 2006
39
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
40
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
41
Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome. 61 54
15834613 2005
42
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
43
Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome. 54 61
15590704 2005
44
Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. 61 54
15629692 2005
45
Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation. 61 54
15127008 2004
46
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). 61 54
15102081 2004
47
Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. 61 54
14708602 2003
48
Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. 61 54
12850625 2003
49
The molecular genetics of keratin disorders. 54 61
12688839 2003
50
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

Variations for Ichthyosis

ClinVar genetic disease variations for Ichthyosis:

6 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PNPLA1 NM_173676.2(PNPLA1):c.419C>T (p.Pro140Leu) SNV Pathogenic 684644 rs376245108 6:36262166-36262166 6:36294389-36294389
2 PNPLA1 NM_173676.2(PNPLA1):c.136A>G (p.Lys46Glu) SNV Pathogenic 684645 rs1582078740 6:36259312-36259312 6:36291535-36291535
3 PNPLA1 NM_173676.2(PNPLA1):c.-80-20704T>C SNV Pathogenic 684646 rs1582046125 6:36238393-36238393 6:36270616-36270616
4 PNPLA1 NM_173676.2(PNPLA1):c.-80-20703C>G SNV Pathogenic 684647 rs1207879599 6:36238394-36238394 6:36270617-36270617
5 PNPLA1 NM_173676.2(PNPLA1):c.229G>A (p.Asp77Asn) SNV Pathogenic 684638 rs373148099 6:36261976-36261976 6:36294199-36294199
6 PNPLA4 GRCh37/hg19 Xp22.31(chrX:6497085-7910475) copy number loss Pathogenic 374374 X:6497085-7910475
7 PNPLA1 NM_173676.2(PNPLA1):c.179C>T (p.Pro60Leu) SNV Pathogenic 684636 rs766188849 6:36260863-36260863 6:36293086-36293086
8 PNPLA1 NM_173676.2(PNPLA1):c.-80-20769C>A SNV Pathogenic 684637 rs1231123861 6:36238328-36238328 6:36270551-36270551
9 PNPLA1 NM_173676.2(PNPLA1):c.163T>C (p.Cys55Arg) SNV Pathogenic 684639 rs1582081682 6:36260847-36260847 6:36293070-36293070
10 PNPLA1 NM_173676.2(PNPLA1):c.1015del (p.Ala339fs) Deletion Pathogenic 684640 rs753687060 6:36270158-36270158 6:36302381-36302381
11 PNPLA1 NM_173676.2(PNPLA1):c.77A>C (p.His26Pro) SNV Pathogenic 684641 rs1407871103 6:36259253-36259253 6:36291476-36291476
12 FLG-AS1 NM_002016.1(FLG):c.544A>T (p.Lys182Ter) SNV Pathogenic 523448 rs1218912272 1:152286818-152286818 1:152314342-152314342
13 IL2RB NM_000878.5(IL2RB):c.286C>T (p.Gln96Ter) SNV Pathogenic 545515 rs1569044747 22:37535259-37535259 22:37139219-37139219
14 TGM1 NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) SNV Pathogenic 217304 rs863223405 14:24727530-24727530 14:24258324-24258324
15 ALOXE3 NM_001165960.1(ALOXE3):c.814C>T (p.Arg272Ter) SNV Pathogenic 217301 rs370031870 17:8018941-8018941 17:8115623-8115623
16 ALOXE3 NC_000017.10:g.8017293_8022591delinsC Indel Pathogenic 617845 17:8017293-8022591 17:8113975-8119273
17 PNPLA1 NM_173676.2(PNPLA1):c.102C>A (p.Asp34Glu) SNV Pathogenic 617846 rs200806519 6:36259278-36259278 6:36291501-36291501
18 TGM1 NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) Duplication Pathogenic 372530 rs1057517836 14:24731001-24731002 14:24261795-24261796
19 ALOX12B NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln) SNV Pathogenic 374101 rs780420901 17:7976533-7976533 17:8073215-8073215
20 ALOX12B NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) SNV Pathogenic 39546 rs199766569 17:7979005-7979005 17:8075687-8075687
21 ALOX12B NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) SNV Pathogenic 39545 rs397514532 17:7978925-7978925 17:8075607-8075607
22 TGM1 NM_000359.3(TGM1):c.428G>A (p.Arg143His) SNV Pathogenic 12481 rs121918719 14:24730981-24730981 14:24261775-24261775
23 PNPLA1 NM_173676.2(PNPLA1):c.361T>C (p.Cys121Arg) SNV Pathogenic 451071 rs1554138062 6:36262108-36262108 6:36294331-36294331
24 PNPLA1 NM_173676.2(PNPLA1):c.133T>C (p.Ser45Pro) SNV Pathogenic 375256 rs781053760 6:36259309-36259309 6:36291532-36291532
25 PNPLA1 NM_173676.2(PNPLA1):c.-80-20761G>A SNV Pathogenic 625427 rs1182312612 6:36238336-36238336 6:36270559-36270559
26 PNPLA1 NM_173676.2(PNPLA1):c.50C>A (p.Ser17Tyr) SNV Pathogenic 375258 rs369445146 6:36259226-36259226 6:36291449-36291449
27 PNPLA4 Deletion Pathogenic 813270 X:6453783-8133115
28 COL7A1 NM_000094.3(COL7A1):c.1442G>A (p.Arg481His) SNV Likely pathogenic 373954 rs147040026 3:48629171-48629171 3:48591738-48591738
29 FLG NM_002016.1(FLG):c.10012A>T (p.Ser3338Cys) SNV Uncertain significance 523447 rs1553211230 1:152277350-152277350 1:152304874-152304874
30 CYP4F22 NM_173483.4(CYP4F22):c.1211T>C (p.Leu404Pro) SNV Uncertain significance 523566 rs1555730246 19:15658993-15658993 19:15548182-15548182
31 CYP4F22 NM_173483.4(CYP4F22):c.1544G>T (p.Arg515Leu) SNV Uncertain significance 523567 rs1425964436 19:15662230-15662230 19:15551419-15551419
32 ABCA12 NM_173076.3(ABCA12):c.*522_*524dup Duplication Uncertain significance 334213 rs535404027 2:215796833-215796834 2:214932109-214932110
33 PNPLA1 NM_173676.2(PNPLA1):c.-51G>A SNV Uncertain significance 356555 rs572438037 6:36259126-36259126 6:36291349-36291349
34 NIPAL4 NM_001099287.1(NIPAL4):c.1289C>T (p.Pro430Leu) SNV Uncertain significance 352523 rs371714489 5:156899856-156899856 5:157472848-157472848
35 ALOX12B NM_001139.3(ALOX12B):c.1276-13G>C SNV Uncertain significance 325881 rs370659573 17:7980074-7980074 17:8076756-8076756
36 ALOX12B NM_001139.3(ALOX12B):c.-157C>T SNV Uncertain significance 325935 rs886053575 17:7990917-7990917 17:8087599-8087599
37 ALOX12B NM_001139.3(ALOX12B):c.1541C>T (p.Thr514Met) SNV Uncertain significance 325877 rs766621071 17:7979026-7979026 17:8075708-8075708
38 ABCA12 NM_173076.3(ABCA12):c.7240-17_7240-15del Microsatellite Uncertain significance 334223 rs574161259 2:215809843-215809845 2:214945119-214945121
39 ABCA12 NM_173076.3(ABCA12):c.5381+11_5381+14del Microsatellite Uncertain significance 334236 rs568420119 2:215840495-215840498 2:214975771-214975774
40 PNPLA1 NM_173676.2(PNPLA1):c.677G>A (p.Arg226Lys) SNV Uncertain significance 356571 rs886061375 6:36269824-36269824 6:36302047-36302047
41 ALOX12B NM_001139.3(ALOX12B):c.1004A>G (p.His335Arg) SNV Uncertain significance 325885 rs886053565 17:7982781-7982781 17:8079463-8079463
42 ALOXE3 NM_001165960.1(ALOXE3):c.2160C>T (p.His720=) SNV Uncertain significance 325960 rs144069104 17:8007454-8007454 17:8104136-8104136
43 PNPLA1 NM_173676.2(PNPLA1):c.*267C>T SNV Uncertain significance 356577 rs886061376 6:36275760-36275760 6:36307983-36307983
44 NIPAL4 NM_001099287.1(NIPAL4):c.*227_*228delinsAG Indel Uncertain significance 352528 rs886060340 5:156900195-156900196 5:157473187-157473188
45 CYP4F22 NM_173483.4(CYP4F22):c.939+15_939+40delinsTGGAGGGTGGAGCCCTGCCTGGGA Indel Uncertain significance 328442 rs886054264 19:15651543-15651568 19:15540732-15540757
46 NIPAL4 NM_001099287.1(NIPAL4):c.*1494_*1499dup Duplication Uncertain significance 352546 rs565912301 5:156901459-156901460 5:157474451-157474452
47 NIPAL4 NM_001172292.1(NIPAL4):c.*385_*387CCT[1] Microsatellite Uncertain significance 352529 rs886060341 5:156900351-156900353 5:157473343-157473345
48 NIPAL4 NM_001172292.1(NIPAL4):c.*1392_*1394GAA[1] Microsatellite Uncertain significance 352544 rs886060346 5:156901359-156901361 5:157474351-157474353
49 ALOX12B NM_001139.3(ALOX12B):c.*118dup Duplication Uncertain significance 325866 rs558690816 17:7975970-7975971 17:8072652-8072653
50 NIPAL4 NM_001099287.1(NIPAL4):c.*568_*572dup Duplication Uncertain significance 352533 rs886060343 5:156900535-156900536 5:157473527-157473528

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 10.18 TGM1 SPINK5 PNPLA4 KRT2 KRT10 KRT1
2 endoplasmic reticulum membrane GO:0005789 9.85 STS SPINK5 SLC27A4 CYP4F22 CERS3 ALDH3A2
3 intracellular membrane-bounded organelle GO:0043231 9.8 STS SPINK5 CYP4F22 ALDH3A2 ABHD5 ABCA12
4 intermediate filament GO:0005882 9.46 KRT2 KRT10 KRT1 FLG
5 lipid droplet GO:0005811 9.43 PNPLA4 PNPLA1 ABHD5
6 cornified envelope GO:0001533 9.02 TGM1 KRT2 KRT10 KRT1 FLG
7 epidermal lamellar body GO:0097209 8.96 SPINK5 ABCA12

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.02 STS SLC27A4 PNPLA4 PNPLA1 CERS3 ALOXE3
2 keratinization GO:0031424 9.85 TGM1 KRT2 KRT10 KRT1 ABCA12
3 fatty acid metabolic process GO:0006631 9.83 SLC27A4 ALOXE3 ALOX12B ALDH3A2 ABHD5
4 epidermis development GO:0008544 9.78 STS KRT2 CERS3 ALDH3A2
5 ceramide biosynthetic process GO:0046513 9.72 PNPLA1 CYP4F22 CERS3 ALOXE3 ALOX12B
6 lipid homeostasis GO:0055088 9.71 PNPLA4 PNPLA1 ABHD5 ABCA12
7 sphingolipid metabolic process GO:0006665 9.69 CERS3 ALOXE3 ALOX12B
8 peptide cross-linking GO:0018149 9.65 TGM1 KRT2 KRT10 KRT1 FLG
9 keratinocyte differentiation GO:0030216 9.63 TGM1 PNPLA1 KRT10 FLG CERS3 ABCA12
10 triglyceride catabolic process GO:0019433 9.57 PNPLA4 PNPLA1
11 linoleic acid metabolic process GO:0043651 9.56 ALOXE3 ALOX12B
12 lipoxygenase pathway GO:0019372 9.55 ALOXE3 ALOX12B
13 protein heterotetramerization GO:0051290 9.54 KRT10 KRT1
14 hepoxilin biosynthetic process GO:0051122 9.52 ALOXE3 ALOX12B
15 cornification GO:0070268 9.5 TGM1 SPINK5 KRT2 KRT10 KRT1 FLG
16 positive regulation of epidermis development GO:0045684 9.49 KRT2 KRT10
17 establishment of skin barrier GO:0061436 9.1 PNPLA1 KRT1 FLG ALOXE3 ALOX12B ABCA12

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 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.16 ALOXE3 ALOX12B
3 triglyceride lipase activity GO:0004806 9.13 PNPLA4 PNPLA1 ABHD5
4 structural constituent of epidermis GO:0030280 9.02 PNPLA1 KRT2 KRT10 KRT1 FLG

Sources for Ichthyosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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