MCID: ICH001
MIFTS: 51

Ichthyosis Vulgaris malady

Summaries for Ichthyosis Vulgaris

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 autosomal recessive congenital ichthyosis and atopic dermatitis. 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 b cells, and related mouse phenotypes are integument and homeostasis/metabolism.

Wikipedia:64 Ichthyosis vulgaris (also known as \"Autosomal dominant ichthyosis,\" and \"Ichthyosis simplex\") is a... more...

Description from OMIM:47 146700

Aliases & Classifications for Ichthyosis Vulgaris

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 25ICD10
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Classifications:



Aliases & Descriptions:

ichthyosis vulgaris 8 9 43 20 22 47 10 45 61
dominant congenital ichthyosiform erythroderma 8
congenital ichthyosis 61
fish scale disease 43
ichthyosis simplex 43
common ichthyosis 43


External Ids:

Disease Ontology8 DOID:1702
NCIt40 C84778
OMIM47 146700
ICD1025 Q80.0

Related Diseases for Ichthyosis Vulgaris

Sources:
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
1autosomal recessive congenital ichthyosis31.1NIPAL4, ABCA12, TGM1
2atopic dermatitis31.1LOR, FLG, IVL, CDSN
3lichen planus30.3IVL, FLG
4eczema herpeticum30.1FLG2
5x-linked ichthyosis30.1STS, FLG
6congenital ichthyosiform erythroderma30.1TGM1, LOR
7netherton syndrome30.1TGM1, CDSN
8keratoderma29.9LOR, KRT14, TGM1
9harlequin type ichthyosis29.9FLG, ABCA12, TGM1
10epidermolytic hyperkeratosis29.9LOR, FLG, SPRR1B, TGM1
11dominant ichthyosis vulgaris10.7
12mental retardation10.3
13ichthyosis, congenital, autosomal recessive 110.3
14cataract and congenital ichthyosis10.3
15ichthyosis, autosomal recessive 4b10.3
16ichthyosis, congenital, autosomal recessive 510.3
17n syndrome10.2
18acne10.2
19alopecia10.2
20ichthyosis, acquired10.2
21twenty-nail dystrophy10.2
22atopy10.2
23dermatitis, atopic 310.2
24sjogren-larsson syndrome10.2
25congenital ichthyosis, microcephalus, quadriplegia10.2
26ichthyosis, congenital, autosomal recessive 4a10.2
27ichthyosis, congenital, autosomal recessive 610.2
28ichthyosis, congenital, autosomal recessive 1010.2
29ichthyosis, congenital, autosomal recessive 810.2
30ichthyosis, congenital, autosomal recessive 710.2
31ichthyosis, congenital, autosomal recessive 910.2
32ichthyosis, congenital, autosomal recessive 210.2
33ichthyosis, congenital, autosomal recessive 310.2
34congenital ichthyosis - microcephalus - tetraplegia10.2
35spastic diplegia10.1
36photosensitive trichothiodystrophy10.1
37sjogren's syndrome10.1
38ichthyosis, follicular10.1
39ichthyosis prematurity syndrome10.1
40abca12-related autosomal recessive congenital ichthyosis10.1
41tgm1-related autosomal recessive congenital ichthyosis10.1
42aloxe3-related autosomal recessive congenital ichthyosis10.1
43alox12b-related autosomal recessive congenital ichthyosis10.1
44nipal4-related autosomal recessive congenital ichthyosis10.1
45cyp4f22-related autosomal recessive congenital ichthyosis10.1
46pnpla1-related autosomal recessive congenital ichthyosis10.1
47ichthyosis, spastic quadriplegia, and mental retardation10.1
48gilbert syndrome10.1
49cryptorchidism10.1
50alopecia universalis10.1

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



Diseases related to ichthyosis vulgaris

Clinical Features for Ichthyosis Vulgaris

Sources:
47OMIM
See all sources

Clinical features from OMIM:

146700

Clinical synopsis from OMIM:

146700

Drugs & Therapeutics for Ichthyosis Vulgaris

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Ichthyosis Vulgaris

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Ichthyosis Vulgaris:

33
Skin, B cells

Animal Models for Ichthyosis Vulgaris or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Ichthyosis Vulgaris:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.0TGM1, KRT14, ABCA12, CDSN, FLG, LOR
2MP:00053768.0NPHS2, FLG, CDSN, ABCA12, KRT14, TGM1

Publications for Ichthyosis Vulgaris

Sources:
51PubMed
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Articles related to Ichthyosis Vulgaris:

(show top 50)    (show all 117)
idTitleAuthorsYear
1
Ichthyosis vulgaris: the filaggrin mutation disease. (23301728)
2013
2
Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV. (23290076)
2013
3
Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population. (22299762)
2012
4
Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population. (22612618)
2012
5
Topographic and biomechanical evaluation of cornea in patients with ichthyosis vulgaris. (22677890)
2012
6
Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families. (21712002)
2011
7
Atopic dermatitis and ichthyosis vulgaris caused by irritants in a professional windsurfer. (21569747)
2011
8
Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris. (20222934)
2010
9
Molecular studies of ichthyosis vulgaris in Pakistani families. (20943104)
2010
10
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. (19239468)
2009
11
Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (19037238)
2009
12
Unrecognized dermatophyte infection in ichthyosis vulgaris. (19595270)
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
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. (18200065)
2008
17
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (17291859)
2007
18
On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis. (17573887)
2007
19
Linear and whorled nevoid hypermelanosis complicated with inflammatory linear verrucous epidermal nevus and ichthyosis vulgaris. (17973817)
2007
20
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. (17417636)
2007
21
Methylmalonic acidemia presenting with an ichthyosis vulgaris-like aspect. (17845195)
2007
22
Epidermal differentiation complex yields a secret: mutations in the cornification protein filaggrin underlie ichthyosis vulgaris. (16702965)
2006
23
Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22. (12838398)
2003
24
Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris. (12190941)
2002
25
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
26
Ichthyosis vulgaris and X-linked ichthyosis: simultaneous segregation in the same family. (10598781)
1999
27
Dermacase. Ichthyosis vulgaris. (9870115)
1998
28
Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris. (9620289)
1998
29
Disaggregation of corneocytes from surfactant-treated sheets of stratum corneum in hyperkeratosis on psoriasis, ichthyosis vulgaris and atopic dermatitis. (9241964)
1997
30
Twenty-nail dystrophy (trachyonychia) caused by lichen planus in a patient with alopecia universalis and ichthyosis vulgaris. (7593807)
1995
31
Dermatophyte infection in ichthyosis vulgaris. (1287487)
1992
32
Essential-fatty-acid metabolites in plasma phospholipids in patients with ichthyosis vulgaris, acne vulgaris and psoriasis. (2142029)
1990
33
X-linked ichthyosis and ichthyosis vulgaris: comparison of their clinical features based on biochemical analysis. (3203072)
1988
34
Ultrastructural study of the occurrence of autosomal dominant ichthyosis vulgaris in atopic eczema. (2445305)
1987
35
Steroid sulphatase deficiency in patients initially diagnosed as ichthyosis vulgaris or recessive X-linked ichthyosis. (3857937)
1985
36
Hyperlinear palms in atopic dermatitis: a manifestation of ichthyosis vulgaris? (6467975)
1984
37
Evening primrose seed oil in ichthyosis vulgaris. (6130264)
1983
38
Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgaris. (6122644)
1982
39
Elevated levels of arylsulfatase C activity in cultured skin fibroblasts of patients with autosomal dominant ichthyosis vulgaris. (6951797)
1982
40
Twenty-nail dystrophy and ichthyosis vulgaris. (7247418)
1981
41
Ichthyosis vulgaris. (761424)
1979
42
Isolation and characterization of the glycosaminoglycans from the scale of Ichthyosis vulgaris. (133683)
1976
43
Dominant ichthyosis vulgaris with an ultrastructurally normal granular layer. (1248165)
1976
44
Ichthyosis vulgaris associated with Gilbert's syndrome. (4698767)
1973
45
A survey of ichthyosis vulgaris in Israel. (5060419)
1972
46
Ichthyosis vulgaris of the autosomal dominant type. (5173268)
1971
47
How I treat ichthyosis vulgaris. (5419602)
1970
48
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
49
Cholesterol synthesis in ichthyosis vulgaris. (6029223)
1967
50
A pedigree of sex-linked ichthyosis vulgaris. (18897932)
1947

Genetic Variations for Ichthyosis Vulgaris

Expression for genes affiliated with Ichthyosis Vulgaris

Sources:
1BioGPS, 15Gene 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

Compounds for genes affiliated with Ichthyosis Vulgaris

Sources:
45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB
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Compounds related to Ichthyosis Vulgaris according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1dithranol459.8FLG, IVL
2monodansylcadaverine459.6TGM1, IVL
3arsenate459.6IVL, FLG, STS
4histidine459.6LOR, STS, FLG, KRT14
5collodion459.5LOR, IVL, TGM1
6epsilon-(gamma-glutamyl)lysine459.5TGM1, IVL, LOR
7urea45 11 2411.5FLG, IVL, KRT14
8bromodeoxyuridine459.4KRT14, IVL, FLG
9cholesterol-sulfate45 1110.4STS, IVL, TGM1
10vitamin a45 11 2411.4TGM1, KRT14, LOR
11hematoxylin459.4LOR, FLG, IVL, KRT14
12gf 109203x45 6010.3TGM1, IVL, FLG
13calcipotriol45 60 29 1112.2TGM1, KRT14, IVL, FLG
14calcitriol45 60 11 2412.1FLG, IVL, TGM1
15retinoid459.1TGM1, KRT14, IVL, FLG
16vitamin d459.1TGM1, KRT14, IVL
17cholesterol45 29 11 2411.7LOR, STS, IVL, KRT14
18proline458.6LOR, IVL, KRT14, SPRR3, SPRR1B
19steroid458.5LOR, NPHS2, STS, FLG, IVL, TGM1
20serine458.4LOR, STS, FLG, IVL, CDSN, KRT14
21lipid457.8LOR, NPHS2, STS, FLG, IVL, ABCA12
22retinoic acid45 248.7LOR, STS, FLG, IVL, KRT14, SPRR3
23calcium45 50 11 2410.3LOR, NPHS2, STS, FLG, IVL, KRT14

GO Terms for genes affiliated with Ichthyosis Vulgaris

Sources:
16Gene Ontology
See all sources

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:0085448.6SPRR1B, SPRR3, KRT14, CDSN, STS
2peptide cross-linkingGO:0181497.9LOR, IVL, SPRR3, SPRR1B, TGM1
3keratinizationGO:0314247.6LOR, IVL, ABCA12, SPRR3, SPRR1B, TGM1
4keratinocyte differentiationGO:0302167.6TGM1, LOR, FLG, IVL, CDSN, SPRR3

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet