MCID: ICH004
MIFTS: 54

Ichthyosis

Categories: Skin diseases, Genetic diseases, Rare diseases, Fetal 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, congenital, autosomal recessive 4a and ichthyosis, x-linked, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis is STS (Steroid Sulfatase), 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 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 354)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 4a 34.9 ABCA12 TGM1
2 ichthyosis, x-linked 34.5 FLG KRT10 STS TGM1
3 ichthyosis bullosa of siemens 34.5 KRT1 KRT10 KRT2
4 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 34.4 ABCA12 SNAP29
5 ichthyosis, cyclic, with epidermolytic hyperkeratosis 34.4 KRT1 KRT10
6 ichthyosis, congenital, autosomal recessive 2 33.9 ALOX12B ALOXE3 SPINK5 TGM1
7 erythroderma, ichthyosiform, congenital reticular 33.9 KRT1 KRT10
8 ichthyosis vulgaris 33.8 ABCA12 FLG KRT1 KRT10 STS TGM1
9 ichthyosis, congenital, autosomal recessive 4b 33.7 ABCA12 ALOX12B ALOXE3 CYP4F22 FLG NIPAL4
10 ichthyosis, congenital, autosomal recessive 1 33.7 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 STS
11 epidermolytic hyperkeratosis 33.5 FLG KRT1 KRT10 KRT2
12 netherton syndrome 33.3 FLG SPINK5 TGM1
13 self-improving collodion baby 33.0 ALOX12B ALOXE3 TGM1
14 vohwinkel syndrome 32.6 GJB2 TGM1
15 ectropion 32.4 ABCA12 TGM1
16 autosomal recessive congenital ichthyosis 32.0 ABCA12 ALOX12B ALOXE3 CERS3 CYP4F22 NIPAL4
17 keratosis 30.4 FLG GJB2 KRT1 KRT10
18 acanthoma 30.2 KRT1 KRT10
19 congenital ichthyosiform erythroderma 29.8 ABCA12 ABHD5 ALOX12B ALOXE3 CERS3 CYP4F22
20 papilloma 29.8 FLG KRT1 KRT10
21 skin disease 28.7 ABCA12 ALOX12B FLG GJB2 KRT1 KRT10
22 ichthyosis, congenital, autosomal recessive 11 12.5
23 ichthyosis, congenital, autosomal recessive 3 12.4
24 ichthyosis hystrix, curth-macklin type 12.4
25 keratitis-ichthyosis-deafness syndrome, autosomal dominant 12.4
26 ichthyosis, congenital, autosomal recessive 5 12.4
27 ichthyosis, congenital, autosomal recessive 8 12.4
28 ichthyosis, congenital, autosomal recessive 6 12.4
29 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 12.3
30 ichthyosis, congenital, autosomal recessive 10 12.3
31 ichthyosis, congenital, autosomal recessive 9 12.3
32 ichthyosis prematurity syndrome 12.3
33 ichthyosis hystrix gravior 12.3
34 ichthyosis, congenital, autosomal recessive 7 12.3
35 ichthyosis, spastic quadriplegia, and mental retardation 12.2
36 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 12.2
37 ichthyosis, congenital, autosomal recessive 12 12.2
38 ichthyosis, hystrix-like, with deafness 12.1
39 ichthyosis follicularis atrichia photophobia syndrome 12.1
40 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 12.1
41 ichthyosis, congenital, autosomal recessive 14 12.1
42 ichthyosis--cheek--eyebrow syndrome 12.1
43 ichthyosis, congenital, autosomal recessive 13 12.1
44 ichthyosis linearis circumflexa 12.1
45 exfoliative ichthyosis 12.1
46 ichthyosis, acquired 12.0
47 ichthyosis, mental retardation, dwarfism, and renal impairment 12.0
48 ichthyosis lamellar 1 12.0
49 ichthyosis congenita with biliary atresia 12.0
50 ichthyosis tapered fingers midline groove up 12.0

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 SLC27A4 SNAP29 ALOXE3 CERS3 TGM1 CLDN1
2 homeostasis/metabolism MP:0005376 10 SLC27A4 ALOX12B SNAP29 ALOXE3 SPINK5 CERS3
3 integument MP:0010771 9.8 ALOX12B SNAP29 ALOXE3 SPINK5 CERS3 TGM1
4 mortality/aging MP:0010768 9.44 SLC27A4 ALOX12B SNAP29 ALOXE3 SPINK5 CERS3

Drugs & Therapeutics for Ichthyosis

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2 Anticholesteremic Agents Phase 4,Phase 2
3 Antimetabolites Phase 4,Phase 2
4 Clofibric Acid Phase 4 882-09-7
5 Hypolipidemic Agents Phase 4,Phase 2
6 Lipid Regulating Agents Phase 4,Phase 2
7 Liarozole Investigational Phase 2, Phase 3 115575-11-6
8 Androgen Antagonists Phase 2, Phase 3
9 Androgens Phase 2, Phase 3
10 Antineoplastic Agents, Hormonal Phase 2, Phase 3
11 Dermatologic Agents Phase 2, Phase 3,Phase 1
12 Hormone Antagonists Phase 2, Phase 3
13 Hormones Phase 2, Phase 3
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
15 Cariostatic Agents Phase 3
16 Monolaurin Phase 3
17 Protective Agents Phase 3
18
Ethanol Approved Phase 2 64-17-5 702
19
Adalimumab Approved Phase 2 331731-18-1 16219006
20
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 6447131 17753757
21
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
22 Anti-Inflammatory Agents Phase 2,Phase 1
23 Antirheumatic Agents Phase 2,Phase 1
24 Analgesics Phase 1, Phase 2
25 Analgesics, Non-Narcotic Phase 1, Phase 2
26 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
27 Calcineurin Inhibitors Phase 1, Phase 2
28 Immunosuppressive Agents Phase 1, Phase 2
29 Peripheral Nervous System Agents Phase 1, Phase 2
30 Antibodies Phase 2
31 Antibodies, Monoclonal Phase 2
32 Immunoglobulins Phase 2
33 Pharmaceutical Solutions Phase 2,Not Applicable
34
Acitretin Approved 55079-83-9 6437841 5284513
35 Keratolytic Agents
36 Radiation-Protective Agents
37 Sunscreening Agents

Interventional clinical trials:

(show all 37)
# Name Status NCT ID Phase Drugs
1 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
2 Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous Unknown status NCT01222000 Phase 3 apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side;apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side
3 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3 liposomal T4N5 lotion
4 Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar Ichthyosis Completed NCT00282724 Phase 2, Phase 3 Liarozole
5 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3 monolaurin cream
6 A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS) Recruiting NCT03445650 Phase 3 ADX-102 1% Topical Dermal Cream;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 Recruiting NCT03041038 Phase 2 Secukinumab;Placebo
13 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
14 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)
15 Gene Therapy for Netherton Syndrome Recruiting NCT01545323 Phase 1
16 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
17 Xeroderma Pigmentosum Patient Experiences Unknown status NCT01123694
18 Natural History and Biological Study of Netherton Syndrome Unknown status NCT02081313 Not Applicable
19 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106 Not Applicable
20 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
21 Use of Fish Skin Extracellular Matrix (ECM) to Facilitate Chronic Wound Healing Completed NCT01348581 Not Applicable
22 Healing of Punch Graft Wounds. Comparative Study Between MariGen and Oasis: a Non-inferiority Study Completed NCT01917591 Not Applicable
23 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
24 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
25 Defining the Skin and Blood Biomarkers of Ichthyosis Recruiting NCT03417856
26 Ophthalmological Abnormalities in Hereditary Ichthyosis (ICHTYO-KERATO) Recruiting NCT03464994 Not Applicable
27 A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
28 Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers Recruiting NCT01971957
29 Asthma and Atopic Dermatitis Validation of PROMIS Pediatric Instruments Recruiting NCT03051347 Not Applicable
30 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
31 XPAND Trial: Enhancing XP Photoprotection Activities - New Directions Recruiting NCT03445052 Not Applicable
32 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
33 Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum Recruiting NCT00046189
34 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
35 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
36 Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis Vulgaris Enrolling by invitation NCT02978209 Not Applicable
37 Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Enrolling by invitation NCT02830763 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, Thyroid, Liver, T Cells, Eye, Neutrophil

Publications for Ichthyosis

Articles related to Ichthyosis:

(show top 50) (show all 1032)
# Title Authors Year
1
Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family. ( 29880184 )
2018
2
A Possible Case of Statin-Induced Ichthyosis in an Elderly Woman. ( 29383212 )
2018
3
Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin. ( 29689068 )
2018
4
Whole-exome sequencing for diagnosis of hereditary ichthyosis. ( 29444371 )
2018
5
Two Cases of Chronic Candidiasis in Keratitis-Ichthyosis-Deafness Syndrome. ( 29742560 )
2018
6
Severe ichthyosis in MPDU1-CDG. ( 29721919 )
2018
7
Severe ectropion in lamellar ichthyosis managed medically with oral acitretin. ( 29334142 )
2018
8
Osteopenia and Multiple Fractures in an Infant With Harlequin Ichthyosis. ( 29710282 )
2018
9
Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis. ( 29396135 )
2018
10
Spontaneous subconjunctival abscess in congenital lamellar ichthyosis. ( 29786003 )
2018
11
A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family. ( 29611532 )
2018
12
Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs. ( 29641717 )
2018
13
A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair. ( 29469768 )
2018
14
Ichthyosis molecular fingerprinting shows profound Th17-skewing and a unique barrier genomic signature. ( 29803800 )
2018
15
Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis. ( 29377090 )
2018
16
Recurrent terbinafine resistant Trichophyton rubrum infection in a child with congenital ichthyosis. ( 29341312 )
2018
17
Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study. ( 29786154 )
2018
18
Ichthyosis with Confetti Inherited from a Mosaic Father. ( 29135017 )
2018
19
A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia. ( 29862217 )
2018
20
Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo. ( 29928199 )
2018
21
Compound heterozygous mutations with novel missense<i>ABCA12</i>mutation in harlequin ichthyosis. ( 29298786 )
2018
22
Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study. ( 29675643 )
2018
23
Anesthetic Care of 2 Siblings With Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome: Case Reports. ( 29738332 )
2018
24
Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location. ( 29277919 )
2018
25
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ( 29400301 )
2018
26
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
27
Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency. ( 29417556 )
2018
28
Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia. ( 29023238 )
2018
29
A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy. ( 29915773 )
2018
30
A Unique Preparation and Delivery Method for Acitretin for Neonatal Harlequin Ichthyosis. ( 29720920 )
2018
31
Ichthyosis, atopic dermatitis, and alopecia. ( 29907967 )
2018
32
Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis. ( 29346172 )
2018
33
ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications. ( 29887490 )
2018
34
Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient. ( 29701233 )
2018
35
X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients. ( 29672931 )
2018
36
Ichthyosis fetalis in Polled Hereford and Shorthorn calves. ( 28782451 )
2017
37
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. ( 28403545 )
2017
38
Lamellar ichthyosis associated bilateral pseudoainhum of fingers and toes successfully treated with tazarotene. ( 28730635 )
2017
39
Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). ( 28591443 )
2017
40
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. ( 28122049 )
2017
41
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome IsA Caused by VPS33B Mutations AffectingA Rab Protein Interaction andA Collagen Modification. ( 28017832 )
2017
42
Ichthyosis Uteri Associated with Endometrial Adenocarcinoma: A Case Report. ( 28764184 )
2017
43
Harlequin Ichthyosis - A Case Report. ( 29341518 )
2017
44
Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing-cholangitis syndrome without signs of liver disease. ( 28906553 )
2017
45
Pseudoainhum and autoamputation associated with lamellar ichthyosis. ( 28936990 )
2017
46
Acral lamellar Ichthyosis - expanding the phenotype of temperature-sensitive keratinization disorders. ( 29194782 )
2017
47
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. ( 28730607 )
2017
48
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. ( 29208051 )
2017
49
Harlequin ichthyosis: A rare case. ( 28913151 )
2017
50
Clinico-epidemiological Study of Congenital Ichthyosis in a Tertiary Care Center of Eastern India. ( 29263534 )
2017

Variations for Ichthyosis

ClinVar genetic disease variations for Ichthyosis:

6
(show all 15)
# 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

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
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:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.8 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 10.24 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 14)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.87 ABHD5 ALOX12B ALOXE3 CERS3 PNPLA1 SLC27A4
2 fatty acid metabolic process GO:0006631 9.8 ABHD5 ALOX12B ALOXE3 SLC27A4
3 keratinization GO:0031424 9.77 ABCA12 KRT1 KRT10 KRT2 TGM1
4 epidermis development GO:0008544 9.73 ALDH3A2 FLG KRT2 STS
5 keratinocyte differentiation GO:0030216 9.65 ABCA12 CERS3 FLG KRT10 TGM1
6 lipid homeostasis GO:0055088 9.63 ABCA12 ABHD5 PNPLA1
7 ceramide biosynthetic process GO:0046513 9.58 ALOX12B ALOXE3 CERS3
8 peptide cross-linking GO:0018149 9.55 FLG KRT1 KRT10 KRT2 TGM1
9 arachidonic acid metabolic process GO:0019369 9.54 ALOX12B ALOXE3
10 linoleic acid metabolic process GO:0043651 9.52 ALOX12B ALOXE3
11 lipoxygenase pathway GO:0019372 9.51 ALOX12B ALOXE3
12 hepoxilin biosynthetic process GO:0051122 9.48 ALOX12B ALOXE3
13 cornification GO:0070268 9.43 FLG KRT1 KRT10 KRT2 SPINK5 TGM1
14 establishment of skin barrier GO:0061436 9.02 ABCA12 ALOX12B ALOXE3 CLDN1 FLG

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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