VI
MCID: ICH001
MIFTS: 51

Ichthyosis Vulgaris (VI)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Vulgaris

MalaCards integrated aliases for Ichthyosis Vulgaris:

Name: Ichthyosis Vulgaris 58 12 77 54 76 38 30 13 56 6 45 15 41 74
Ichthyosis Simplex 58 54 76
Vi 76 3
Dominant Congenital Ichthyosiform Erythroderma 12
Congenital Ichthyosis 74
Fish Scale Disease 54
Common Ichthyosis 54
Ichthyoses 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ichthyosis vulgaris:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:1702
OMIM 58 146700
KEGG 38 H00735
MeSH 45 D016112
NCIt 51 C84778
SNOMED-CT 69 20512000
ICD10 34 Q80.0
MedGen 43 C0079584

Summaries for Ichthyosis Vulgaris

NIH Rare Diseases : 54 Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin.  It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.

MalaCards based summary : Ichthyosis Vulgaris, also known as ichthyosis simplex, is related to dermatitis, atopic and ichthyosis, x-linked, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis Vulgaris is FLG (Filaggrin), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs carbamide peroxide and Anti-Infective Agents, Local have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are asthma and eczematoid dermatitis

Disease Ontology : 12 An ichthyosis that has material basis in heterozygous mutation in the filaggrin gene on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.

CDC : 3 CAS No. 18540-29-9

UniProtKB/Swiss-Prot : 76 Ichthyosis vulgaris: The most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever.

Wikipedia : 77 Ichthyosis vulgaris (also known as "Autosomal dominant ichthyosis," and "Ichthyosis simplex") is a skin... more...

Description from OMIM: 146700

Related Diseases for Ichthyosis Vulgaris

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

(show top 50) (show all 773)
# Related Disease Score Top Affiliating Genes
1 dermatitis, atopic 30.8 FLG LOR SPINK5
2 ichthyosis, x-linked 30.5 FLG STS TGM1
3 dermatitis, atopic, 2 30.4 FLG LOR
4 keratosis 30.0 FLG KRT10
5 lichen planus 29.7 FLG KRT10
6 netherton syndrome 29.7 FLG SPINK5 TGM1
7 ichthyosis 28.6 ALDH3A2 ALOX12B ALOXE3 FLG KRT10 LOR
8 skin disease 28.2 ALOX12B FLG KRT10 LOR SPINK5 STS
9 glycogen storage disease vi 12.7
10 mucopolysaccharidosis, type vi 12.7
11 neuropathy, hereditary sensory and autonomic, type vi 12.5
12 osteogenesis imperfecta, type vi 12.5
13 orofaciodigital syndrome vi 12.5
14 collagen vi-related myopathy 12.5
15 collagen vi related muscular dystrophy 12.4
16 bleeding disorder, platelet-type, 11 12.2
17 albinism, oculocutaneous, type vi 12.1
18 ehlers-danlos syndrome, kyphoscoliotic type, 1 12.1
19 collagen type vi-related disorders 12.0
20 neuropathy, hereditary motor and sensory, type via 11.9
21 abducens nerve disease 11.8
22 plod1-related kyphoscoliotic ehlers-danlos syndrome 11.6
23 spinal muscular atrophy, distal, autosomal recessive, 1 11.5
24 factor ix and factor xi, combined deficiency of 11.4
25 bethlem myopathy 1 11.4
26 ullrich congenital muscular dystrophy 1 11.3
27 short-rib thoracic dysplasia 8 with or without polydactyly 11.3
28 duane retraction syndrome 1 11.3
29 osteogenesis imperfecta, type v 11.3
30 xeroderma pigmentosum, complementation group f 11.3
31 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 11.3
32 refsum disease, classic 11.3
33 pityriasis rotunda 11.3
34 glycogen storage disease, type ixd 11.2
35 glycogen storage disease viii 11.2
36 cerebral amyloid angiopathy, cst3-related 11.1
37 cowden syndrome 1 11.1
38 moebius syndrome 11.0
39 brown-vialetto-van laere syndrome 1 11.0
40 duane retraction syndrome 2 11.0
41 duane retraction syndrome 3 with or without deafness 11.0
42 orbital disease 11.0
43 nbia/dyt/park-pla2g6 11.0
44 kyphoscoliotic ehlers-danlos syndrome 11.0
45 mucopolysaccharidosis type 6, slowly progressing 11.0
46 mucopolysaccharidosis type 6, rapidly progressing 11.0
47 mucopolysaccharidosis-plus syndrome 10.7
48 prostate cancer 10.7
49 colorectal cancer 10.6
50 dermatitis 10.6

Comorbidity relations with Ichthyosis Vulgaris via Phenotypic Disease Network (PDN):


Sjogren Syndrome

Graphical network of the top 20 diseases related to Ichthyosis Vulgaris:



Diseases related to Ichthyosis Vulgaris

Symptoms & Phenotypes for Ichthyosis Vulgaris

Human phenotypes related to Ichthyosis Vulgaris:

33
# Description HPO Frequency HPO Source Accession
1 asthma 33 frequent (33%) HP:0002099
2 eczematoid dermatitis 33 frequent (33%) HP:0000976
3 ichthyosis 33 HP:0008064

Symptoms via clinical synopsis from OMIM:

58
Skin:
ichthyosis vulgaris
ichthyosis simplex

Misc:
onset usually after 3 months age
lesions rare in the axillae, antecubital or popliteal fossae
palms and soles often show increased markings
frequent asthma, eczema or hay fever

Clinical features from OMIM:

146700

UMLS symptoms related to Ichthyosis Vulgaris:


trichorrhexis invaginata

MGI Mouse Phenotypes related to Ichthyosis Vulgaris:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 ALDH3A2 ALOX12B ALOXE3 SPINK5 TGM1

Drugs & Therapeutics for Ichthyosis Vulgaris

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Not Applicable 124-43-6
2 Anti-Infective Agents, Local Not Applicable
3 Anti-Infective Agents Not Applicable
4 Yellow Dock

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris Active, not recruiting NCT03173547 Phase 2 146-9251 cream;Vehicle cream
2 Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis Vulgaris Unknown status NCT02978209 Not Applicable
3 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106 Not Applicable
4 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878

Search NIH Clinical Center for Ichthyosis Vulgaris

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: ichthyosis vulgaris

Genetic Tests for Ichthyosis Vulgaris

Genetic tests related to Ichthyosis Vulgaris:

# Genetic test Affiliating Genes
1 Ichthyosis Vulgaris 30 FLG

Anatomical Context for Ichthyosis Vulgaris

MalaCards organs/tissues related to Ichthyosis Vulgaris:

42
Skin, Bone, Heart, Kidney, Liver, Prostate, Breast

Publications for Ichthyosis Vulgaris

Articles related to Ichthyosis Vulgaris:

(show top 50) (show all 145)
# Title Authors Year
1
Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients. ( 30246302 )
2018
2
Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study. ( 29675643 )
2018
3
Enhanced Expression of Genes Related to Xenobiotic Metabolism in the Skin of Patients with Atopic Dermatitis but Not with Ichthyosis Vulgaris. ( 28899689 )
2018
4
A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy. ( 29915773 )
2018
5
Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report. ( 30021537 )
2018
6
Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris. ( 30549102 )
2018
7
Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation. ( 27530091 )
2017
8
Prevalence of filaggrin gene mutations in patients with atopic dermatitis and ichthyosis vulgaris in Kyushu area of Japan and South Korea. ( 28143684 )
2017
9
Targeted next-generation sequencing identifies nine novel filaggrin gene variants in Chinese Han patients with ichthyosis vulgaris. ( 28407221 )
2017
10
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. ( 28730607 )
2017
11
Cutaneous Melanoma in Association With Ichthyosis Vulgaris. ( 28902080 )
2017
12
Treatment of ichthyosis vulgaris with a urea-based emulsion: videodermatoscopy and confocal microscopy evaluation. ( 29050444 )
2017
13
Surgical management of digital ischemia caused by constriction band formation in a patient with ichthyosis vulgaris. ( 29423165 )
2017
14
Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond. ( 27667308 )
2016
15
[Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris]. ( 27577213 )
2016
16
Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris. ( 26396540 )
2015
17
The Effect of Dietary Change in a Patient With Ichthyosis Vulgaris: A Case Report. ( 26770148 )
2015
18
Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgaris improves dry skin, but has a modest effect on gene expression regardless of FLG genotype. ( 24330146 )
2015
19
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis. ( 25819062 )
2015
20
A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris. ( 25115336 )
2014
21
Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis. ( 24920311 )
2014
22
Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B). ( 23810772 )
2013
23
A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris. ( 23870202 )
2013
24
Ichthyosis vulgaris: the filaggrin mutation disease. ( 23301728 )
2013
25
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile. ( 23297869 )
2013
26
Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV. ( 23290076 )
2013
27
[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]. ( 23744309 )
2013
28
Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population. ( 22299762 )
2012
29
Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence. ( 23331396 )
2012
30
Topographic and biomechanical evaluation of cornea in patients with ichthyosis vulgaris. ( 22677890 )
2012
31
Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population. ( 22612618 )
2012
32
Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese. ( 21496060 )
2011
33
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. ( 21514438 )
2011
34
Atopic dermatitis and ichthyosis vulgaris caused by irritants in a professional windsurfer. ( 21569747 )
2011
35
Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families. ( 21712002 )
2011
36
Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients. ( 21747615 )
2011
37
Efficacy of topical 10% urea-based lotion in patients with ichthyosis vulgaris: a two-center, randomized, controlled, single-blind, right-vs.-left study in comparison with standard glycerol-based emollient cream. ( 22007909 )
2011
38
Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. ( 22164253 )
2011
39
FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics. ( 19958351 )
2010
40
Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris. ( 20222934 )
2010
41
Overexpression of constitutively active BMP-receptor-IB in mouse skin causes an ichthyosis-vulgaris-like disease. ( 21079999 )
2010
42
Molecular studies of ichthyosis vulgaris in Pakistani families. ( 20943104 )
2010
43
[Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation]. ( 20441703 )
2010
44
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. ( 19239468 )
2009
45
Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. ( 19416262 )
2009
46
Unrecognized dermatophyte infection in ichthyosis vulgaris. ( 19595270 )
2009
47
Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. ( 19183181 )
2009
48
Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. ( 19037238 )
2009
49
Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis. ( 18841000 )
2009
50
De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. ( 18007582 )
2008

Variations for Ichthyosis Vulgaris

ClinVar genetic disease variations for Ichthyosis Vulgaris:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLG NM_002016.1(FLG): c.1501C> T (p.Arg501Ter) single nucleotide variant Pathogenic rs61816761 GRCh37 Chromosome 1, 152285861: 152285861
2 FLG NM_002016.1(FLG): c.1501C> T (p.Arg501Ter) single nucleotide variant Pathogenic rs61816761 GRCh38 Chromosome 1, 152313385: 152313385
3 FLG NM_002016.1(FLG): c.2282_2285delCAGT (p.Ser761Cysfs) deletion risk factor rs558269137 GRCh38 Chromosome 1, 152312601: 152312604
4 FLG NM_002016.1(FLG): c.2282_2285delCAGT (p.Ser761Cysfs) deletion risk factor rs558269137 GRCh37 Chromosome 1, 152285077: 152285080
5 FLG NM_002016.1(FLG): c.7661C> G (p.Ser2554Ter) single nucleotide variant Pathogenic,risk factor rs121909626 GRCh37 Chromosome 1, 152279701: 152279701
6 FLG NM_002016.1(FLG): c.7661C> G (p.Ser2554Ter) single nucleotide variant Pathogenic,risk factor rs121909626 GRCh38 Chromosome 1, 152307225: 152307225
7 FLG NM_002016.1(FLG): c.7339C> T (p.Arg2447Ter) single nucleotide variant Pathogenic rs138726443 GRCh37 Chromosome 1, 152280023: 152280023
8 FLG NM_002016.1(FLG): c.7339C> T (p.Arg2447Ter) single nucleotide variant Pathogenic rs138726443 GRCh38 Chromosome 1, 152307547: 152307547
9 FLG NM_002016.1(FLG): c.12064A> T (p.Lys4022Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs146466242 GRCh37 Chromosome 1, 152275298: 152275298
10 FLG NM_002016.1(FLG): c.12064A> T (p.Lys4022Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs146466242 GRCh38 Chromosome 1, 152302822: 152302822
11 FLG NM_002016.1(FLG): c.2143C> T (p.Gln715Ter) single nucleotide variant Pathogenic rs797045090 GRCh37 Chromosome 1, 152285219: 152285219
12 FLG NM_002016.1(FLG): c.2143C> T (p.Gln715Ter) single nucleotide variant Pathogenic rs797045090 GRCh38 Chromosome 1, 152312743: 152312743
13 FLG NM_002016.1(FLG): c.9887C> A (p.Ser3296Ter) single nucleotide variant Pathogenic rs761212672 GRCh37 Chromosome 1, 152277475: 152277475
14 FLG NM_002016.1(FLG): c.9887C> A (p.Ser3296Ter) single nucleotide variant Pathogenic rs761212672 GRCh38 Chromosome 1, 152304999: 152304999
15 FLG NM_002016.1(FLG): c.7189C> T (p.Gln2397Ter) single nucleotide variant Pathogenic rs535289422 GRCh37 Chromosome 1, 152280173: 152280173
16 FLG NM_002016.1(FLG): c.7189C> T (p.Gln2397Ter) single nucleotide variant Pathogenic rs535289422 GRCh38 Chromosome 1, 152307697: 152307697
17 FLG NM_002016.1(FLG): c.5717C> A (p.Ser1906Ter) single nucleotide variant Likely pathogenic rs141784184 GRCh37 Chromosome 1, 152281645: 152281645
18 FLG NM_002016.1(FLG): c.5717C> A (p.Ser1906Ter) single nucleotide variant Likely pathogenic rs141784184 GRCh38 Chromosome 1, 152309169: 152309169
19 FLG NM_002016.1(FLG): c.3905C> A (p.Ser1302Ter) single nucleotide variant Pathogenic rs754812742 GRCh37 Chromosome 1, 152283457: 152283457
20 FLG NM_002016.1(FLG): c.3905C> A (p.Ser1302Ter) single nucleotide variant Pathogenic rs754812742 GRCh38 Chromosome 1, 152310981: 152310981
21 FLG NM_002016.1(FLG): c.94G> T (p.Glu32Ter) single nucleotide variant Pathogenic rs114733570 GRCh37 Chromosome 1, 152287839: 152287839
22 FLG NM_002016.1(FLG): c.94G> T (p.Glu32Ter) single nucleotide variant Pathogenic rs114733570 GRCh38 Chromosome 1, 152315363: 152315363
23 FLG NM_002016.1(FLG): c.4279G> A (p.Ala1427Thr) single nucleotide variant Uncertain significance rs148844389 GRCh37 Chromosome 1, 152283083: 152283083
24 FLG NM_002016.1(FLG): c.4279G> A (p.Ala1427Thr) single nucleotide variant Uncertain significance rs148844389 GRCh38 Chromosome 1, 152310607: 152310607
25 FLG NM_002016.1(FLG): c.899_903delACAGG (p.Asp300Glyfs) deletion Likely pathogenic rs1060499587 GRCh37 Chromosome 1, 152286459: 152286463
26 FLG NM_002016.1(FLG): c.899_903delACAGG (p.Asp300Glyfs) deletion Likely pathogenic rs1060499587 GRCh38 Chromosome 1, 152313983: 152313987
27 FLG NM_002016.1(FLG): c.3321delA (p.Gly1109Glufs) deletion Pathogenic rs200519781 GRCh38 Chromosome 1, 152311565: 152311565
28 FLG NM_002016.1(FLG): c.3321delA (p.Gly1109Glufs) deletion Pathogenic rs200519781 GRCh37 Chromosome 1, 152284041: 152284041
29 FLG NM_002016.1(FLG): c.7801G> A (p.Asp2601Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146849256 GRCh37 Chromosome 1, 152279561: 152279561
30 FLG NM_002016.1(FLG): c.7801G> A (p.Asp2601Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146849256 GRCh38 Chromosome 1, 152307085: 152307085
31 FLG NM_002016.1(FLG): c.487G> T (p.Gly163Ter) single nucleotide variant Pathogenic rs1214424848 GRCh37 Chromosome 1, 152286875: 152286875
32 FLG NM_002016.1(FLG): c.487G> T (p.Gly163Ter) single nucleotide variant Pathogenic rs1214424848 GRCh38 Chromosome 1, 152314399: 152314399
33 FLG NM_002016.1(FLG): c.2379_2394del16insTCCTCAG (p.Leu794_Ser798delinsProGln) indel Uncertain significance rs1553213630 GRCh37 Chromosome 1, 152284968: 152284983
34 FLG NM_002016.1(FLG): c.2379_2394del16insTCCTCAG (p.Leu794_Ser798delinsProGln) indel Uncertain significance rs1553213630 GRCh38 Chromosome 1, 152312492: 152312507
35 FLG NM_002016.1(FLG): c.6032_6034delTCC (p.Leu2011del) deletion Uncertain significance GRCh38 Chromosome 1, 152308852: 152308854
36 FLG NM_002016.1(FLG): c.6032_6034delTCC (p.Leu2011del) deletion Uncertain significance GRCh37 Chromosome 1, 152281328: 152281330

Expression for Ichthyosis Vulgaris

Search GEO for disease gene expression data for Ichthyosis Vulgaris.

Pathways for Ichthyosis Vulgaris

Pathways related to Ichthyosis Vulgaris according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 FLG KRT10 LOR SPINK5 TGM1
2
Show member pathways
11.48 FLG KRT10 LOR SPINK5 TGM1
3 10.32 ALOX12B ALOXE3

GO Terms for Ichthyosis Vulgaris

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.7 ALOX12B ALOXE3 FLG KRT10 LOR SPINK5
2 intracellular membrane-bounded organelle GO:0043231 9.26 ALDH3A2 FLG SPINK5 STS
3 cornified envelope GO:0001533 8.92 FLG KRT10 LOR TGM1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.76 ALDH3A2 ALOX12B ALOXE3 STS
2 keratinization GO:0031424 9.69 KRT10 LOR TGM1
3 fatty acid metabolic process GO:0006631 9.61 ALDH3A2 ALOX12B ALOXE3
4 sphingolipid metabolic process GO:0006665 9.52 ALOX12B ALOXE3
5 ceramide biosynthetic process GO:0046513 9.49 ALOX12B ALOXE3
6 arachidonic acid metabolic process GO:0019369 9.48 ALOX12B ALOXE3
7 keratinocyte differentiation GO:0030216 9.46 FLG KRT10 LOR TGM1
8 establishment of skin barrier GO:0061436 9.43 ALOX12B ALOXE3 FLG
9 linoleic acid metabolic process GO:0043651 9.4 ALOX12B ALOXE3
10 lipoxygenase pathway GO:0019372 9.37 ALOX12B ALOXE3
11 hepoxilin biosynthetic process GO:0051122 9.32 ALOX12B ALOXE3
12 peptide cross-linking GO:0018149 9.26 FLG KRT10 LOR TGM1
13 cornification GO:0070268 9.02 FLG KRT10 LOR SPINK5 TGM1

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.33 FLG KRT10 LOR
2 dioxygenase activity GO:0051213 9.26 ALOX12B ALOXE3
3 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.96 ALOX12B ALOXE3
4 structural constituent of epidermis GO:0030280 8.8 FLG KRT10 LOR

Sources for Ichthyosis Vulgaris

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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