MCID: ICH001
MIFTS: 52

Ichthyosis Vulgaris malady

Summaries for Ichthyosis Vulgaris

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 autosomal recessive congenital ichthyosis. An important gene associated with Ichthyosis Vulgaris is FLG (filaggrin). The drug ammonium lactate and the compounds dithranol and monodansylcadaverine 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:63 Ichthyosis vulgaris (also known as \"Autosomal dominant ichthyosis,\" and \"Ichthyosis simplex\") is a... more...

Description from OMIM:46 146700

Aliases & Classifications for Ichthyosis Vulgaris

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 25ICD10
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Classifications:



Aliases & Descriptions:

ichthyosis vulgaris 8 9 42 20 22 46 10 44 60
dominant congenital ichthyosiform erythroderma 8
congenital ichthyosis 60
fish scale disease 42
ichthyosis simplex 42
common ichthyosis 42


External Ids:

Disease Ontology8 DOID:1702
NCIt39 C84778
OMIM46 146700
ICD1025 Q80.0

Related Diseases for Ichthyosis Vulgaris

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17GeneCards, 18GeneDecks
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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 110)
idRelated DiseaseScoreTop Affiliating Genes
1dermatitis31.0IVL, FLG, LOR
2autosomal recessive congenital ichthyosis31.0NIPAL4, ABCA12, TGM1
3atopic dermatitis31.0LOR, FLG, IVL, CDSN
4x-linked ichthyosis30.9STS, FLG
5psoriasis30.4LOR, FLG, IVL, CDSN, KRT14, TGM1
6lichen planus30.3IVL, FLG
7skin disease30.3KRT14, TGM1
8epidermolytic hyperkeratosis30.2LOR, FLG, SPRR1B, TGM1
9eczema herpeticum30.1FLG2
10irritant dermatitis30.1LOR
11nephrotic syndrome30.1NPHS2
12keratosis30.1LOR, FLG, IVL
13harlequin type ichthyosis30.1FLG, ABCA12, TGM1
14ectropion30.1ABCA12, TGM1
15papilloma30.1LOR, FLG, IVL, KRT14
16congenital ichthyosiform erythroderma30.1TGM1, LOR
17netherton syndrome30.1TGM1, CDSN
18epidermolysis bullosa29.8KRT14, FLG
19peeling skin syndrome10.4
20dominant ichthyosis vulgaris10.3
21cataract and congenital ichthyosis10.3
22ichthyosis, autosomal recessive 4b10.3
23ichthyosis, congenital, autosomal recessive 110.3
24ichthyosis, congenital, autosomal recessive 210.3
25ichthyosis, spastic quadriplegia, and mental retardation10.2
26acne10.2
27alopecia10.2
28sjogren-larsson syndrome10.2
29ichthyosis, congenital, autosomal recessive 4a10.2
30ichthyosis, congenital, autosomal recessive 610.2
31ichthyosis, congenital, autosomal recessive 1010.2
32ichthyosis, congenital, autosomal recessive 810.2
33ichthyosis with hypotrichosis10.2
34ichthyosis, congenital, autosomal recessive 710.2
35ichthyosis, congenital, autosomal recessive 910.2
36ichthyosis, congenital, autosomal recessive 310.2
37ichthyosis, congenital, autosomal recessive 510.2
38congenital ichthyosis - microcephalus - tetraplegia10.2
39spastic diplegia10.1
40photosensitive trichothiodystrophy10.1
41hypotrichosis10.1
42ichthyosis bullosa of siemens10.1
43congenital ichthyosis, microcephalus, quadriplegia10.1
44kid syndrome10.1
45abca12-related autosomal recessive congenital ichthyosis10.1
46tgm1-related autosomal recessive congenital ichthyosis10.1
47aloxe3-related autosomal recessive congenital ichthyosis10.1
48alox12b-related autosomal recessive congenital ichthyosis10.1
49nipal4-related autosomal recessive congenital ichthyosis10.1
50cyp4f22-related autosomal recessive congenital ichthyosis10.1

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



Diseases related to ichthyosis vulgaris

Clinical Features for Ichthyosis Vulgaris

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46OMIM
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Clinical features from OMIM:

146700

Clinical synopsis from OMIM:

146700

Drugs & Therapeutics for Ichthyosis Vulgaris

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Ichthyosis Vulgaris

Search NIH Clinical Center for Ichthyosis Vulgaris

Search CenterWatch for Ichthyosis Vulgaris

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Ichthyosis Vulgaris

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20GeneTests, 22GTR
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Genetic tests related to Ichthyosis Vulgaris:

id Genetic test Affiliating Genes
1 Ichthyosis Vulgaris20 22 FLG

Anatomical Context for Ichthyosis Vulgaris

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32MalaCards
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MalaCards organs/tissues related to Ichthyosis Vulgaris:

32
Skin, Testes

Animal Models for Ichthyosis Vulgaris or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Ichthyosis Vulgaris:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.0LOR, FLG, CDSN, ABCA12, KRT14, TGM1
2MP:00053768.0LOR, NPHS2, FLG, CDSN, ABCA12, KRT14

Publications for Ichthyosis Vulgaris

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50PubMed
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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
Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population. (22612618)
2012
4
Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese. (21496060)
2011
5
Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families. (21712002)
2011
6
Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients. (21747615)
2011
7
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. (21514438)
2011
8
Atopic dermatitis and ichthyosis vulgaris caused by irritants in a professional windsurfer. (21569747)
2011
9
Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. (22164253)
2011
10
Molecular studies of ichthyosis vulgaris in Pakistani families. (20943104)
2010
11
Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis. (18841000)
2009
12
Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. (19183181)
2009
13
Clinical detection of ichthyosis vulgaris in an atopic dermatitis clinic: implications for allergic respiratory disease and prognosis. (18455261)
2008
14
Identification of a genetic locus for ichthyosis vulgaris on chromosome 10q22.3-q24.2. (18079749)
2008
15
Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. (18239616)
2008
16
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
17
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (17291859)
2007
18
Linear and whorled nevoid hypermelanosis complicated with inflammatory linear verrucous epidermal nevus and ichthyosis vulgaris. (17973817)
2007
19
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. (17164798)
2007
20
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. (16444271)
2006
21
Epidermal differentiation complex yields a secret: mutations in the cornification protein filaggrin underlie ichthyosis vulgaris. (16702965)
2006
22
Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22. (12838398)
2003
23
Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris. (12190941)
2002
24
Duchenne muscular dystrophy-rhabdomyosarcoma, ichthyosis vulgaris/acute monoblastic leukemia: association of rare genetic disorders and childhood malignant diseases. (12116087)
2002
25
Ichthyosis vulgaris involving the scalp area affected by androgenetic alopecia. (20921658)
1999
26
Dermacase. Ichthyosis vulgaris. (9870115)
1998
27
Disaggregation of corneocytes from surfactant-treated sheets of stratum corneum in hyperkeratosis on psoriasis, ichthyosis vulgaris and atopic dermatitis. (9241964)
1997
28
Decreased profilaggrin expression in ichthyosis vulgaris is a result of selectively impaired posttranscriptional control. (7822325)
1995
29
Atopic dermatitis and ichthyosis vulgaris. (8066010)
1994
30
Stereological studies of desmosomes in ichthyosis vulgaris. (1536758)
1992
31
Dermatophyte infection in ichthyosis vulgaris. (1287487)
1992
32
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
33
Atopic dermatitis--ichthyosis vulgaris--hyperlinear palms--an ultrastructural study. (2767287)
1989
34
X-linked ichthyosis and ichthyosis vulgaris: comparison of their clinical features based on biochemical analysis. (3203072)
1988
35
Steroid sulphatase deficiency in patients initially diagnosed as ichthyosis vulgaris or recessive X-linked ichthyosis. (3857937)
1985
36
Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing. (6584254)
1984
37
Hyperlinear palms in atopic dermatitis: a manifestation of ichthyosis vulgaris? (6467975)
1984
38
Langerhans cells in autosomal dominant ichthyosis vulgaris. (6615717)
1983
39
Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgaris. (6122644)
1982
40
Ichthyosis vulgaris. (761424)
1979
41
Dermatoglyphics in ichthyosis vulgaris. (753756)
1977
42
Dominant ichthyosis vulgaris with an ultrastructurally normal granular layer. (1248165)
1976
43
Case of dominant ichthyosis vulgaris. (4426637)
1974
44
Morphometric analysis of the dominant and sex-linked forms of ichthyosis vulgaris. (4127459)
1973
45
Ichthyosis vulgaris associated with Gilbert's syndrome. (4698767)
1973
46
A survey of ichthyosis vulgaris in Israel. (5060419)
1972
47
Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis. (4117150)
1972
48
The granular layer thickness in atopy and ichthyosis vulgaris. (5416673)
1970
49
How I treat ichthyosis vulgaris. (5419602)
1970
50
Ichthyosis vulgaris. A clinical and histopathological study of patients and their close relatives in the autosomal dominant and sex-linked forms of the disease. (5275917)
1969

Genetic Variations for Ichthyosis Vulgaris

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Expression for genes affiliated with Ichthyosis Vulgaris

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ichthyosis Vulgaris

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Pathways for genes affiliated with Ichthyosis Vulgaris

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Compounds for genes affiliated with Ichthyosis Vulgaris

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44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB
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Compounds related to Ichthyosis Vulgaris according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1dithranol449.8FLG, IVL
2monodansylcadaverine449.6TGM1, IVL
3arsenate449.6IVL, FLG, STS
4histidine449.6LOR, STS, FLG, KRT14
5collodion449.5LOR, IVL, TGM1
6epsilon-(gamma-glutamyl)lysine449.5TGM1, IVL, LOR
7urea44 11 2411.5FLG, IVL, KRT14
8bromodeoxyuridine449.4KRT14, IVL, FLG
9cholesterol-sulfate44 1110.4STS, IVL, TGM1
10vitamin a44 11 2411.4TGM1, KRT14, LOR
11hematoxylin449.4LOR, FLG, IVL, KRT14
12gf 109203x44 5910.3TGM1, IVL, FLG
13calcipotriol44 59 28 1112.2TGM1, KRT14, IVL, FLG
14calcitriol44 59 11 2412.1FLG, IVL, TGM1
15retinoid449.1TGM1, KRT14, IVL, FLG
16vitamin d449.1TGM1, KRT14, IVL
17cholesterol44 28 11 2411.7LOR, STS, IVL, KRT14
18proline448.6LOR, IVL, KRT14, SPRR3, SPRR1B
19steroid448.5LOR, NPHS2, STS, FLG, IVL, TGM1
20serine448.4LOR, STS, FLG, IVL, CDSN, KRT14
21lipid447.8LOR, NPHS2, STS, FLG, IVL, ABCA12
22retinoic acid44 248.7LOR, STS, FLG, IVL, KRT14, SPRR3
23calcium44 49 11 2410.3LOR, NPHS2, STS, FLG, IVL, KRT14

GO Terms for genes affiliated with Ichthyosis Vulgaris

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16Gene Ontology
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Cellular components related to Ichthyosis Vulgaris according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:0015338.2TGM1, SPRR1B, CDSN, IVL, LOR

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

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:0085448.6STS, CDSN, KRT14, SPRR3, SPRR1B
2peptide cross-linkingGO:0181497.9TGM1, SPRR1B, SPRR3, IVL, LOR
3keratinizationGO:0314247.6TGM1, SPRR1B, SPRR3, ABCA12, IVL, LOR
4keratinocyte differentiationGO:0302167.6SPRR1B, TGM1, CDSN, IVL, FLG, LOR

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

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.1SPRR1B, IVL, LOR
2structural molecule activityGO:0051987.3SPRR1B, SPRR3, IVL, FLG, FLG2, LOR

Products for genes affiliated with Ichthyosis Vulgaris

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Sources for Ichthyosis Vulgaris

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
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29KEGG
34MeSH
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