MCID: ICH004
MIFTS: 56

Ichthyosis

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

Aliases & Classifications for Ichthyosis

MalaCards integrated aliases for Ichthyosis:

Name: Ichthyosis 12 76 29 55 6 44 15
Ichthyoses 12 73
Non-Syndromic Ichthyosis 12
Congenital Ichthyosis 73

Classifications:



External Ids:

Disease Ontology 12 DOID:1697
MeSH 44 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, x-linked and ichthyosis, congenital, autosomal recessive 4a, 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 Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and eye, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 76 Ichthyosis is a family of rare genetic skin disorders characterized by dry, thickened, scaly... more...

Related Diseases for Ichthyosis

Diseases in the Ichthyosis family:

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

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

(show top 50) (show all 412)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, x-linked 34.4 FLG STS TGM1
2 ichthyosis, congenital, autosomal recessive 4a 34.3 ABCA12 TGM1
3 ichthyosis bullosa of siemens 34.3 KRT1 KRT10 KRT2
4 ichthyosis, congenital, autosomal recessive 4b 34.2 ABCA12 ALOX12B ALOXE3 CYP4F22 FLG NIPAL4
5 ichthyosis, congenital, autosomal recessive 2 34.1 ALOX12B ALOXE3 SPINK5 TGM1
6 ichthyosis, congenital, autosomal recessive 1 34.1 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 STS
7 ichthyosis, cyclic, with epidermolytic hyperkeratosis 34.1 KRT1 KRT10
8 ichthyosis vulgaris 33.9 ALDH3A2 ALOX12B ALOXE3 FLG KRT10 SPINK5
9 epidermolytic hyperkeratosis 33.6 FLG KRT1 KRT10 KRT2
10 erythroderma, ichthyosiform, congenital reticular 33.6 KRT1 KRT10
11 autosomal dominant epidermolytic ichthyosis 33.5 KRT1 KRT10
12 autosomal recessive congenital ichthyosis 33.5 ABCA12 ABHD5 ALOX12B ALOXE3 CERS3 CYP4F22
13 netherton syndrome 33.3 FLG SPINK5 TGM1
14 self-improving collodion baby 32.6 ALOX12B ALOXE3 TGM1
15 vohwinkel syndrome 32.2 GJB2 TGM1
16 ectropion 32.2 ABCA12 TGM1
17 keratosis 30.4 FLG GJB2 KRT1 KRT10
18 acanthoma 29.8 KRT1 KRT10
19 skin disease 29.8 ABCA12 ALOX12B FLG GJB2 KRT1 KRT10
20 ichthyosis, congenital, autosomal recessive 11 12.7
21 ichthyosis, congenital, autosomal recessive 3 12.6
22 keratitis-ichthyosis-deafness syndrome, autosomal dominant 12.5
23 ichthyosis, congenital, autosomal recessive 5 12.5
24 ichthyosis, congenital, autosomal recessive 8 12.5
25 ichthyosis, congenital, autosomal recessive 6 12.5
26 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 12.5
27 ichthyosis, congenital, autosomal recessive 10 12.5
28 ichthyosis, congenital, autosomal recessive 9 12.5
29 ichthyosis prematurity syndrome 12.5
30 ichthyosis hystrix, curth-macklin type 12.4
31 ichthyosis, congenital, autosomal recessive 7 12.4
32 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 12.4
33 ichthyosis, spastic quadriplegia, and mental retardation 12.4
34 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 12.4
35 ichthyosis hystrix gravior 12.3
36 ichthyosis, congenital, autosomal recessive 12 12.3
37 ichthyosis, hystrix-like, with deafness 12.3
38 ichthyosis follicularis atrichia photophobia syndrome 12.3
39 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 12.3
40 ichthyosis, mental retardation, dwarfism, and renal impairment 12.3
41 ichthyosis, congenital, autosomal recessive 14 12.2
42 ichthyosis, congenital, autosomal recessive 13 12.2
43 ichthyosis, acquired 12.2
44 ichthyosis linearis circumflexa 12.2
45 exfoliative ichthyosis 12.2
46 ichthyosis lamellar 1 12.2
47 ichthyosis congenita with biliary atresia 12.1
48 kid syndrome 12.1
49 ichthyosis tapered fingers midline groove up 12.1
50 ichthyosis lamellar 3 12.1

Graphical network of the top 20 diseases related to Ichthyosis:



Diseases related to Ichthyosis

Symptoms & Phenotypes for Ichthyosis

UMLS symptoms related to Ichthyosis:


trichorrhexis invaginata

MGI Mouse Phenotypes related to Ichthyosis:

46
# 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 ALDH3A2 ALOX12B ALOXE3 CERS3
3 integument MP:0010771 9.83 ABCA12 ABHD5 ALDH3A2 ALOX12B ALOXE3 CERS3
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 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2 Hypolipidemic Agents Phase 4,Phase 2
3 Lipid Regulating Agents Phase 4,Phase 2
4 Anticholesteremic Agents Phase 4,Phase 2
5 Clofibric Acid Phase 4 882-09-7
6 Antimetabolites Phase 4,Phase 2
7 Liarozole Investigational Phase 2, Phase 3 115575-11-6
8 Hormones Phase 2, Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
10 Antineoplastic Agents, Hormonal Phase 2, Phase 3
11 Androgens Phase 2, Phase 3
12 Hormone Antagonists Phase 2, Phase 3
13 Dermatologic Agents Phase 2, Phase 3,Phase 1
14 Androgen 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
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
21
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 6447131 17753757
22 Anti-Inflammatory Agents Phase 2,Phase 1
23 Antirheumatic Agents Phase 2,Phase 1
24 Analgesics Phase 1, Phase 2
25 Calcineurin Inhibitors Phase 1, Phase 2
26 Immunosuppressive Agents Phase 1, Phase 2
27 Immunologic Factors Phase 1, Phase 2,Phase 2
28 Analgesics, Non-Narcotic Phase 1, Phase 2
29 Peripheral Nervous System Agents Phase 1, Phase 2
30 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
31 Pharmaceutical Solutions Phase 2,Not Applicable
32 Antibodies Phase 2
33 Antibodies, Monoclonal Phase 2
34 Immunoglobulins Phase 2
35
Acitretin Approved 55079-83-9 5284513 6437841
36 Anesthetics, Local Early Phase 1
37 Anesthetics Early Phase 1
38 Keratolytic Agents
39 Radiation-Protective Agents
40 Sunscreening Agents
41 Yellow Dock

Interventional clinical trials:

(show all 41)
# 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 RESET Trial - Part 1 (Followed by Reset Trial - Part 2) - A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS) Recruiting NCT03445650 Phase 3 ADX-102 1% Topical Dermal Cream (reproxalap);Vehicle of ADX-102 Topical Dermal Cream
7 A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis Completed NCT02864082 Phase 2 PAT-001, 0.1%;PAT-001, 0.2%;Vehicle
8 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2 Active topical NS2 1% dermatologic cream;Vehicle placebo 0.0% NS2 dermatologic cream
9 Clinical Trial Using Humira in Netherton Syndrome Completed NCT02113904 Phase 2 Adalimumab
10 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome Completed NCT00208026 Phase 1, Phase 2 Pimecrolimus 1% Cream
11 A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris Recruiting NCT03173547 Phase 2 146-9251 cream;Vehicle cream
12 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Active, not recruiting NCT03041038 Phase 2 Secukinumab;Placebo
13 A Safety, Efficacy and Systemic Exposure Study of CD5789 Cream in Adults and Adolescents With Lamellar Ichthyosis Not yet recruiting NCT03738800 Phase 2 CD5789 Cream 200 µg/g;CD5789 Cream 100 µg/g;CD5789 Cream Vehicle
14 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
15 Gene Therapy for Netherton Syndrome Unknown status NCT01545323 Phase 1
16 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)
17 Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis Vulgaris Unknown status NCT02978209 Not Applicable
18 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
19 Xeroderma Pigmentosum Patient Experiences Unknown status NCT01123694
20 Natural History and Biological Study of Netherton Syndrome Unknown status NCT02081313 Not Applicable
21 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106 Not Applicable
22 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
23 Use of Fish Skin Extracellular Matrix (ECM) to Facilitate Chronic Wound Healing Completed NCT01348581 Not Applicable
24 A Clinical Trial to Evaluate Kerecis Oral™ Compared to Autogenous Free Gingival Graft (AFGG) Tissue to Augment Gingival Soft Tissue and Wound Healing Completed NCT03664401 Early Phase 1
25 Healing of Punch Graft Wounds. Comparative Study Between MariGen and Oasis: a Non-inferiority Study Completed NCT01917591 Not Applicable
26 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
27 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
28 Defining the Skin and Blood Biomarkers of Ichthyosis Recruiting NCT03417856
29 Ophthalmological Abnormalities in Hereditary Ichthyosis (ICHTYO-KERATO) Recruiting NCT03464994 Not Applicable
30 A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
31 Feasibility and Effect of Therapeutic Education Sessions Using an Internet Application in Hereditary Ichtyosis Recruiting NCT03641261 Not Applicable
32 Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers Recruiting NCT01971957
33 Asthma and Atopic Dermatitis Validation of PROMIS Pediatric Instruments Recruiting NCT03051347 Not Applicable
34 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
35 XPAND Trial: Enhancing XP Photoprotection Activities - New Directions Recruiting NCT03445052 Not Applicable
36 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
37 Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum Recruiting NCT00046189
38 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
39 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
40 Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Enrolling by invitation NCT02830763 Not Applicable
41 Study Determining Safety and Efficacy of Avena Sativa (Oat) Skincare Products for Treating Skin Dryness and Itching in Cancer Patients Not yet recruiting NCT03796052 Not Applicable

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 29

Anatomical Context for Ichthyosis

MalaCards organs/tissues related to Ichthyosis:

41
Skin, Testes, Eye, Liver, Thyroid, T Cells, Lung

Publications for Ichthyosis

Articles related to Ichthyosis:

(show top 50) (show all 1585)
# Title Authors Year
1
A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism. ( 30221377 )
2019
2
Ocular Surface Stem Cell Transplantation for Treatment of Keratitis-Ichthyosis-Deafness Syndrome. ( 30371567 )
2019
3
Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family. ( 29880184 )
2018
4
A Possible Case of Statin-Induced Ichthyosis in an Elderly Woman. ( 29383212 )
2018
5
Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin. ( 29689068 )
2018
6
Whole-exome sequencing for diagnosis of hereditary ichthyosis. ( 29444371 )
2018
7
Two Cases of Chronic Candidiasis in Keratitis-Ichthyosis-Deafness Syndrome. ( 29742560 )
2018
8
Severe ichthyosis in MPDU1-CDG. ( 29721919 )
2018
9
Severe ectropion in lamellar ichthyosis managed medically with oral acitretin. ( 29334142 )
2018
10
Osteopenia and Multiple Fractures in an Infant With Harlequin Ichthyosis. ( 29710282 )
2018
11
Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis. ( 29396135 )
2018
12
Spontaneous subconjunctival abscess in congenital lamellar ichthyosis. ( 29786003 )
2018
13
A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family. ( 29611532 )
2018
14
Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs. ( 29641717 )
2018
15
A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair. ( 29469768 )
2018
16
Ichthyosis molecular fingerprinting shows profound Th17-skewing and a unique barrier genomic signature. ( 29803800 )
2018
17
Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis. ( 29377090 )
2018
18
Recurrent terbinafine resistant Trichophyton rubrum infection in a child with congenital ichthyosis. ( 29341312 )
2018
19
Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study. ( 29786154 )
2018
20
Ichthyosis with Confetti Inherited from a Mosaic Father. ( 29135017 )
2018
21
A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia. ( 29862217 )
2018
22
Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo. ( 29928199 )
2018
23
Compound heterozygous mutations with novel missense<i>ABCA12</i>mutation in harlequin ichthyosis. ( 29298786 )
2018
24
Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study. ( 29675643 )
2018
25
Anesthetic Care of 2 Siblings With Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome: Case Reports. ( 29738332 )
2018
26
Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location. ( 29277919 )
2018
27
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ( 29400301 )
2018
28
The Major Orphan Forms of Ichthyosis Are Characterized by Systemic T-Cell Activation and Th-17/Tc-17/Th-22/Tc-22 Polarization in Blood. ( 29660300 )
2018
29
Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency. ( 29417556 )
2018
30
Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia. ( 29023238 )
2018
31
A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy. ( 29915773 )
2018
32
A Unique Preparation and Delivery Method for Acitretin for Neonatal Harlequin Ichthyosis. ( 29720920 )
2018
33
Ichthyosis, atopic dermatitis, and alopecia. ( 29907967 )
2018
34
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. ( 30487246 )
2018
35
Acquired ichthyosis as a paraneoplastic feature of ALK-negative anaplastic large cell lymphoma. ( 30407628 )
2018
36
ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications. ( 29887490 )
2018
37
Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis. ( 30007077 )
2018
38
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. ( 30011118 )
2018
39
Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan. ( 30268591 )
2018
40
Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5. ( 30527376 )
2018
41
Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis. ( 29346172 )
2018
42
Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients. ( 30246302 )
2018
43
Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus. ( 30166818 )
2018
44
Erosive pustular dermatosis of the scalp associated with lamellar ichthyosis successfully treated with dehydrated human amnion/chorion membrane allograft. ( 30510998 )
2018
45
Acquired ichthyosis associated with gastric adenocarcinoma. ( 29603207 )
2018
46
An atypical presentation of herpes simplex virus infection in Harlequin ichthyosis. ( 30168192 )
2018
47
Hidradenitis suppurativa in association with keratitis-ichthyosis-deafness syndrome treated with adalimumab. ( 29570225 )
2018
48
More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations. ( 30287322 )
2018
49
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. ( 30288772 )
2018
50
Novel MBTPS2 mutation causes a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome in a Chinese pedigree. ( 30294811 )
2018

Variations for Ichthyosis

ClinVar genetic disease variations for Ichthyosis:

6 (show all 17)
# 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.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh38 Chromosome 17, 8075687: 8075687
3 COL7A1 NM_000094.3(COL7A1): c.1442G> A (p.Arg481His) single nucleotide variant Likely pathogenic rs147040026 GRCh38 Chromosome 3, 48591738: 48591738
4 COL7A1 NM_000094.3(COL7A1): c.1442G> A (p.Arg481His) single nucleotide variant Likely pathogenic rs147040026 GRCh37 Chromosome 3, 48629171: 48629171
5 ALOX12B NM_001139.2(ALOX12B): c.1859C> A (p.Pro620Gln) single nucleotide variant Pathogenic rs780420901 GRCh37 Chromosome 17, 7976533: 7976533
6 ALOX12B NM_001139.2(ALOX12B): c.1859C> A (p.Pro620Gln) single nucleotide variant Pathogenic rs780420901 GRCh38 Chromosome 17, 8073215: 8073215
7 STS GRCh37/hg19 Xp22.31(chrX: 6497085-7910475) copy number loss Pathogenic GRCh37 Chromosome X, 6497085: 7910475
8 FLG NM_002016.1(FLG): c.10012A> T (p.Ser3338Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 152304874: 152304874
9 FLG NM_002016.1(FLG): c.10012A> T (p.Ser3338Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 152277350: 152277350
10 FLG NM_002016.1(FLG): c.544A> T (p.Lys182Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 152314342: 152314342
11 FLG NM_002016.1(FLG): c.544A> T (p.Lys182Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 152286818: 152286818
12 CYP4F22 NM_173483.3(CYP4F22): c.1211T> C (p.Leu404Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 15548182: 15548182
13 CYP4F22 NM_173483.3(CYP4F22): c.1211T> C (p.Leu404Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 15658993: 15658993
14 CYP4F22 NM_173483.3(CYP4F22): c.1544G> T (p.Arg515Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 15551419: 15551419
15 CYP4F22 NM_173483.3(CYP4F22): c.1544G> T (p.Arg515Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 15662230: 15662230
16 IL2RB NM_000878.4(IL2RB): c.286C> T (p.Gln96Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 37139219: 37139219
17 IL2RB NM_000878.4(IL2RB): c.286C> T (p.Gln96Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 37535259: 37535259

Copy number variations for Ichthyosis from CNVD:

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

Expression for Ichthyosis

Search GEO for disease gene expression data for Ichthyosis.

Pathways for Ichthyosis

Pathways related to Ichthyosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 FLG IL2RB KRT1 KRT10 KRT2 SPINK5
2
Show member pathways
11.56 FLG KRT1 KRT10 KRT2 SPINK5 TGM1
3 10.52 ALOX12B ALOXE3

GO Terms for Ichthyosis

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.85 ALDH3A2 CERS3 CYP4F22 SLC27A4 SPINK5 STS
2 intracellular membrane-bounded organelle GO:0043231 9.73 ABCA12 ALDH3A2 CYP4F22 FLG SPINK5 STS
3 intermediate filament GO:0005882 9.46 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 membrane GO:0016020 10.2 ABCA12 ALDH3A2 CERS3 CLDN1 CYP4F22 GJB2
7 cytosol GO:0005829 10.18 ABCA12 ABHD5 ALOX12B ALOXE3 FLG GJB2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.86 ABHD5 ALDH3A2 ALOX12B ALOXE3 CERS3 PNPLA1
2 keratinization GO:0031424 9.8 ABCA12 KRT1 KRT10 KRT2 TGM1
3 fatty acid metabolic process GO:0006631 9.77 ABHD5 ALDH3A2 ALOX12B ALOXE3 SLC27A4
4 keratinocyte differentiation GO:0030216 9.72 ABCA12 CERS3 FLG KRT10 TGM1
5 epidermis development GO:0008544 9.7 ALDH3A2 KRT2 STS
6 lipid homeostasis GO:0055088 9.63 ABCA12 ABHD5 PNPLA1
7 ceramide biosynthetic process GO:0046513 9.61 ALOX12B ALOXE3 CERS3
8 arachidonic acid metabolic process GO:0019369 9.55 ALOX12B ALOXE3
9 peptide cross-linking GO:0018149 9.55 FLG KRT1 KRT10 KRT2 TGM1
10 linoleic acid metabolic process GO:0043651 9.54 ALOX12B ALOXE3
11 lipoxygenase pathway GO:0019372 9.51 ALOX12B ALOXE3
12 hepoxilin biosynthetic process GO:0051122 9.49 ALOX12B ALOXE3
13 positive regulation of epidermis development GO:0045684 9.48 KRT10 KRT2
14 cornification GO:0070268 9.43 FLG KRT1 KRT10 KRT2 SPINK5 TGM1
15 establishment of skin barrier GO:0061436 9.1 ABCA12 ALOX12B ALOXE3 CLDN1 FLG 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 9.5 ALOX12B ALOXE3 CYP4F22
2 structural molecule activity GO:0005198 9.35 CLDN1 FLG KRT1 KRT10 KRT2
3 triglyceride lipase activity GO:0004806 9.26 ABHD5 PNPLA1
4 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.16 ALOX12B ALOXE3
5 structural constituent of epidermis GO:0030280 8.92 FLG KRT1 KRT10 KRT2

Sources for Ichthyosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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