MCID: ICH001
MIFTS: 57

Ichthyosis Vulgaris malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Ichthyosis Vulgaris

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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. last updated: 10/18/2013

MalaCards: Ichthyosis Vulgaris, also known as dominant congenital ichthyosiform erythroderma, is related to dermatitis and atopic dermatitis. An important gene associated with Ichthyosis Vulgaris is FLG (filaggrin), and among its related pathways is Corticotropin-releasing hormone. The drug ammonium lactate and the compounds dithranol and vitamin a have been mentioned in the context of this disorder. Affiliated tissues include skin and testes, and related mouse phenotypes are integument and homeostasis/metabolism.

Wikipedia:66 Ichthyosis vulgaris (also known as \"Autosomal dominant ichthyosis,\" and \"Ichthyosis simplex\") is a... more...

Description from OMIM:48 146700

Aliases & Classifications for Ichthyosis Vulgaris

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases


Aliases & Descriptions:

ichthyosis vulgaris 9 10 44 21 23 48 11 46 63
dominant congenital ichthyosiform erythroderma 9
congenital ichthyosis 63
fish scale disease 44
ichthyosis simplex 44
common ichthyosis 44


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Disease Ontology9 DOID:1702
OMIM48 146700
NCIt41 C84778
ICD1026 Q80.0

Related Diseases for Ichthyosis Vulgaris

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18GeneCards, 19GeneDecks
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Diseases in the Ichthyosis Vulgaris family:

Dominant Ichthyosis Vulgaris

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

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1dermatitis31.2LOR, FLG, IVL
2atopic dermatitis31.2IVL, FLG, LOR
3x-linked ichthyosis31.0FLG, STS
4lichen planus30.4IVL, FLG
5psoriasis30.4KRT14, LOR, FLG, TGM1, IVL
6eczema herpeticum30.3FLG2
7keratosis30.2IVL, FLG, LOR
8congenital ichthyosiform erythroderma30.2TGM1, LOR
9skin disease30.2KRT14, TGM1
10papilloma30.2KRT14, LOR, FLG, IVL
11dominant ichthyosis vulgaris10.7
12acne10.3
13alopecia10.3
14twenty-nail dystrophy10.3
15atopy10.3
16vohwinkel syndrome with ichthyosis10.1LOR
17vohwinkel syndrome10.1LOR
18duchenne muscular dystrophy10.1
19cryptorchidism10.1
20netherton syndrome10.1
21alopecia universalis10.1
22pycnodysostosis10.1
23hypogonadism10.1
24leprosy10.1
25leukemia10.1
26methylmalonic acidemia10.1
27muscular dystrophy10.1
28nephrotic syndrome10.1
29retinitis10.1
30rhabdomyosarcoma10.1
31tinea corporis10.1
32ichthyosis hystrix gravior10.1
33ichthyosis, acquired10.1
34inflammatory linear verrucous epidermal nevus10.1
35linear and whorled nevoid hypermelanosis10.1
36peeling skin syndrome10.1
37pityriasis rotunda10.1
38epidermal nevus10.1
39blindness10.1
40leukoplakia10.1IVL, FLG
41epidermolysis bullosa10.1KRT14, FLG
42hypertrophic scars10.0FLG, KRT14
43molluscum contagiosum10.0LOR, FLG, IVL
44porokeratosis10.0IVL, FLG, LOR
45cervical squamous cell carcinoma10.0KRT14, IVL
46bowen syndrome10.0KRT14, FLG, IVL
47epidermolysis bullosa simplex10.0KRT14, FLG, IVL
48cholesteatoma10.0KRT14, FLG, IVL
49bullous pemphigoid10.0IVL, FLG, KRT14
50mucoepidermoid carcinoma10.0IVL, KRT14

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



Diseases related to ichthyosis vulgaris

Symptoms for Ichthyosis Vulgaris

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48OMIM
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Symptoms by clinical synopsis from OMIM:

146700

Clinical features from OMIM:

146700

Drugs & Therapeutics for Ichthyosis Vulgaris

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Ichthyosis Vulgaris

Drug clinical trials:

Search ClinicalTrials for Ichthyosis Vulgaris

Search NIH Clinical Center for Ichthyosis Vulgaris

Search CenterWatch for Ichthyosis Vulgaris

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Ichthyosis Vulgaris

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21GeneTests, 23GTR
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Genetic tests related to Ichthyosis Vulgaris:

id Genetic test Affiliating Genes
1 Ichthyosis Vulgaris21 23 FLG

Anatomical Context for Ichthyosis Vulgaris

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34MalaCards
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MalaCards organs/tissues related to Ichthyosis Vulgaris:

34
Skin, Testes

Animal Models for Ichthyosis Vulgaris or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Ichthyosis Vulgaris:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2KRT14, LOR, FLG, TGM1, ABCA12
2MP:00053767.8NPHS2, KRT14, LOR, FLG, TGM1, ABCA12
3MP:00053787.5ABCA12, TGM1, FLG, LOR, KRT14, NPHS2

Publications for Ichthyosis Vulgaris

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53PubMed
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Articles related to Ichthyosis Vulgaris:

(show top 50)    (show all 117)
idTitleAuthorsYear
1
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile. (23297869)
2013
2
Ichthyosis vulgaris: the filaggrin mutation disease. (23301728)
2013
3
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
4
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)
2013
5
Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population. (22299762)
2012
6
Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence. (23331396)
2012
7
Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population. (22612618)
2012
8
Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese. (21496060)
2011
9
Overexpression of constitutively active BMP-receptor-IB in mouse skin causes an ichthyosis-vulgaris-like disease. (21079999)
2010
10
Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation]. (20441703)
2010
11
Clinical detection of ichthyosis vulgaris in an atopic dermatitis clinic: implications for allergic respiratory disease and prognosis. (18455261)
2008
12
Identification of a genetic locus for ichthyosis vulgaris on chromosome 10q22.3-q24.2. (18079749)
2008
13
Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. (18239616)
2008
14
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. (18200065)
2008
15
Generalized tinea corporis due to Trichophyton rubrum in ichthyosis vulgaris. (17714151)
2007
16
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (17291859)
2007
17
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. (16444271)
2006
18
Epidermal differentiation complex yields a secret: mutations in the cornification protein filaggrin underlie ichthyosis vulgaris. (16702965)
2006
19
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1. (12473059)
2002
20
Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris. (11121144)
2000
21
An unusual central retinal dystrophy associated with ichthyosis vulgaris. (10916184)
2000
22
Dermacase. Ichthyosis vulgaris. (9870115)
1998
23
Disaggregation of corneocytes from surfactant-treated sheets of stratum corneum in hyperkeratosis on psoriasis, ichthyosis vulgaris and atopic dermatitis. (9241964)
1997
24
A statistical study on in vivo sorption and desorption of water in ichthyosis vulgaris. (8182215)
1994
25
Stereological studies of desmosomes in ichthyosis vulgaris. (1536758)
1992
26
Keratohyalin granules are heterogeneous in ridged and non-ridged human skin: evidence from anti-filaggrin immunogold labelling of normal skin and skin of autosomal dominant ichthyosis vulgaris patients. (1724895)
1991
27
Interaction of filaggrin with keratin filaments during advanced stages of normal human epidermal differentiation and in ichthyosis vulgaris. (1720750)
1991
28
Essential-fatty-acid metabolites in plasma phospholipids in patients with ichthyosis vulgaris, acne vulgaris and psoriasis. (2142029)
1990
29
Proliferation and differentiation of cultured epidermal cells from patients with X-linked ichthyosis and ichthyosis vulgaris. (1969216)
1990
30
Atopic dermatitis--ichthyosis vulgaris--hyperlinear palms--an ultrastructural study. (2767287)
1989
31
Are hyperlinear palms and dry skin signs of a concomitant autosomal ichthyosis vulgaris in atopic dermatitis? (2477977)
1989
32
Conjunctival and canalicular papillomas and ichthyosis vulgaris. (3178078)
1988
33
Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal. (2437218)
1987
34
Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing. (6584254)
1984
35
Evening primrose seed oil in ichthyosis vulgaris. (6130264)
1983
36
X-linked recessive ichthyosis vulgaris: rapid identification by lipoprotein electrophoresis. (6682648)
1983
37
Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgaris. (6122644)
1982
38
Ichthyosis vulgaris palmaris et plantaris dominans: a peculiar form of ichthyosis vulgaris localized on the palms and soles. (7169138)
1982
39
Twenty-nail dystrophy and ichthyosis vulgaris. (7247418)
1981
40
Retinol-binding protein in serum and epidermis of patients with ichthyosis vulgaris. (394886)
1979
41
Isolation and characterization of the glycosaminoglycans from the scale of Ichthyosis vulgaris. (133683)
1976
42
Case of dominant ichthyosis vulgaris. (4426637)
1974
43
Morphometric analysis of the dominant and sex-linked forms of ichthyosis vulgaris. (4127459)
1973
44
Ichthyosis vulgaris associated with Gilbert's syndrome. (4698767)
1973
45
A survey of ichthyosis vulgaris in Israel. (5060419)
1972
46
Recurrent eczema herpeticum associated with ichthyosis vulgaris. (4114690)
1972
47
Ichthyosis vulgaris of the autosomal dominant type. (5173268)
1971
48
The granular layer thickness in atopy and ichthyosis vulgaris. (5416673)
1970
49
Cholesterol synthesis in ichthyosis vulgaris. (6029223)
1967
50
Ichthyosiform erythroderma and ichthyosis vulgaris. Occurrence in a Negro family. (13893598)
1962

Variations for Ichthyosis Vulgaris

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Ichthyosis Vulgaris:

1
id Gene Name Type Significance SNP ID Assembly Location
1FLGNM_002016.1(FLG): c.1501C> T (p.Arg501Ter)single nucleotide variantPathogenic, association, risk factorrs61816761GRCh37Chr 1, 152285861: 152285861
2FLGNM_002016.1(FLG): c.7661C> G (p.Ser2554Ter)single nucleotide variantPathogenic, risk factorrs121909626GRCh37Chr 1, 152279701: 152279701

Expression for genes affiliated with Ichthyosis Vulgaris

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ichthyosis Vulgaris

Search GEO for disease gene expression data for Ichthyosis Vulgaris.

Pathways for genes affiliated with Ichthyosis Vulgaris

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51PathCards, 39NCBI BioSystems Database
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Pathways related to Ichthyosis Vulgaris according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3KRT14, IVL

Compounds for genes affiliated with Ichthyosis Vulgaris

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46Novoseek, 25HMDB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 52PharmGKB
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Compounds related to Ichthyosis Vulgaris according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1dithranol469.6FLG, IVL
2vitamin a46 25 1211.5KRT14, LOR, TGM1
3monodansylcadaverine469.4IVL, TGM1
4histidine469.3FLG, LOR, STS, KRT14
5allergens469.3FLG, IVL
6arsenate469.3STS, FLG, IVL
7urea46 25 1211.3KRT14, FLG, IVL
8bromodeoxyuridine469.2IVL, FLG, KRT14
9collodion469.2IVL, TGM1, LOR
10epsilon-(gamma-glutamyl)lysine469.2LOR, TGM1, IVL
111,25 dihydroxy vitamin d3469.1TGM1, IVL
12gf 109203x46 6210.1FLG, TGM1, IVL
13cholesterol-sulfate46 1210.1STS, TGM1, IVL
14progesterone46 30 62 25 1213.1TGM1, STS, KRT14
15calcitriol46 62 25 1212.1IVL, TGM1, FLG
16proline469.0KRT14, LOR, IVL
17hematoxylin469.0IVL, FLG, LOR, KRT14
18vitamin d468.9KRT14, TGM1, IVL
19sodium dodecylsulfate468.8TGM1, IVL
20calcipotriol46 62 30 1211.8KRT14, FLG, TGM1, IVL
21cholesterol46 30 25 1211.8KRT14, STS, LOR, IVL
22retinoid468.8KRT14, FLG, TGM1, IVL
23cysteine468.7IVL, FLG, STS, KRT14
24serine468.4IVL, FLG, LOR, STS, KRT14
25tyrosine468.3IVL, FLG, STS, KRT14, NPHS2
26retinoic acid46 259.0IVL, TGM1, FLG, LOR, STS, KRT14
27steroid468.0IVL, TGM1, FLG, LOR, STS, NPHS2
28calcium46 52 25 1210.6IVL, TGM1, FLG, LOR, STS, KRT14
29lipid467.0NPHS2, ABCA12, IVL, TGM1, FLG, LOR

GO Terms for genes affiliated with Ichthyosis Vulgaris

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17Gene Ontology
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Cellular components related to Ichthyosis Vulgaris according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.5KRT14, FLG
2cornified envelopeGO:0015338.7LOR, TGM1, IVL
3extracellular vesicular exosomeGO:0700628.3NPHS2, KRT14, TGM1, IVL

Biological processes related to Ichthyosis Vulgaris according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:0085449.7KRT14, STS
2establishment of skin barrierGO:0614368.9ABCA12, FLG2, FLG
3peptide cross-linkingGO:0181498.5LOR, TGM1, IVL
4keratinocyte differentiationGO:0302168.5LOR, FLG, TGM1, IVL
5keratinizationGO:0314248.2LOR, TGM1, IVL, ABCA12

Molecular functions related to Ichthyosis Vulgaris according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.8KRT14, LOR
2protein binding, bridgingGO:0306749.0LOR, IVL
3structural molecule activityGO:0051988.4LOR, FLG, FLG2, IVL

Products for genes affiliated with Ichthyosis Vulgaris

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Sources for Ichthyosis Vulgaris

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet