MCID: ICH001
MIFTS: 58

Ichthyosis Vulgaris malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Ichthyosis Vulgaris

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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 based summary: Ichthyosis Vulgaris, also known as dominant congenital ichthyosiform erythroderma, is related to dermatitis and x-linked ichthyosis, and has symptoms including 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:65 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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Ichthyosis Vulgaris, Aliases & Descriptions:

Name: Ichthyosis Vulgaris 8 9 42 20 22 46 10 44 62
Dominant Congenital Ichthyosiform Erythroderma 8 62
Congenital Ichthyosis 62
 
Fish Scale Disease 42
Ichthyosis Simplex 42
Common Ichthyosis 42


Classifications:

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


External Ids:

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

Related Diseases for Ichthyosis Vulgaris

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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 64)
idRelated DiseaseScoreTop Affiliating Genes
1dermatitis31.4LOR, FLG, IVL
2x-linked ichthyosis31.4FLG, STS
3atopic dermatitis31.4IVL, FLG, LOR
4eczema herpeticum30.7FLG2
5lichen planus30.7IVL, FLG
6keratosis30.4IVL, FLG, LOR
7congenital ichthyosiform erythroderma30.3TGM1, LOR
8skin disease30.3KRT14, TGM1
9papilloma30.2KRT14, LOR, FLG, IVL
10psoriasis30.0KRT14, LOR, FLG, TGM1, IVL
11dominant ichthyosis vulgaris10.7
12vohwinkel syndrome with ichthyosis10.5LOR
13vohwinkel syndrome10.4LOR
14acne10.3
15alopecia10.3
16twenty-nail dystrophy10.3
17atopy10.3
18leukoplakia10.3IVL, FLG
19epidermolysis bullosa10.2KRT14, FLG
20hypertrophic scars10.2FLG, KRT14
21molluscum contagiosum10.2LOR, FLG, IVL
22porokeratosis10.2IVL, FLG, LOR
23cervical squamous cell carcinoma10.2KRT14, IVL
24bowen syndrome10.1KRT14, FLG, IVL
25epidermolysis bullosa simplex10.1KRT14, FLG, IVL
26cholesteatoma10.1KRT14, FLG, IVL
27bullous pemphigoid10.1IVL, FLG, KRT14
28mucoepidermoid carcinoma10.1IVL, KRT14
29androgenetic alopecia10.1
30duchenne muscular dystrophy10.1
31leukemia10.1
32skin conditions10.1
33netherton syndrome10.1
34alopecia universalis10.1
35pycnodysostosis10.1
36cryptorchidism10.1
37hypogonadism10.1
38leprosy10.1
39methylmalonic acidemia10.1
40muscular dystrophy10.1
41nephrotic syndrome10.1
42retinitis10.1
43rhabdomyosarcoma10.1
44tinea corporis10.1
45acute monoblastic leukemia10.1
46ichthyosis hystrix gravior10.1
47ichthyosis, acquired10.1
48inflammatory linear verrucous epidermal nevus10.1
49linear and whorled nevoid hypermelanosis10.1
50peeling skin syndrome10.1

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



Diseases related to ichthyosis vulgaris

Symptoms for Ichthyosis Vulgaris

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Symptoms by clinical synopsis from OMIM:

146700

Clinical features from OMIM:

146700

HPO human phenotypes related to Ichthyosis Vulgaris:

id Description Frequency HPO Source Accession
1 eczematoid dermatitis frequent (33%) HP:0000976
2 asthma frequent (33%) HP:0002099
3 autosomal dominant inheritance HP:0000006
4 ichthyosis HP:0008064

Drugs & Therapeutics for Ichthyosis Vulgaris

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Drug clinical trials:

Search ClinicalTrials for Ichthyosis Vulgaris

Search NIH Clinical Center for Ichthyosis Vulgaris

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Ichthyosis Vulgaris

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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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MalaCards organs/tissues related to Ichthyosis Vulgaris:

32
Skin, Testes

Animal Models for Ichthyosis Vulgaris or affiliated genes

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MGI Mouse Phenotypes related to Ichthyosis Vulgaris:

36
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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Articles related to Ichthyosis Vulgaris:

(show top 50)    (show all 116)
idTitleAuthorsYear
1
A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris. (25115336)
2014
2
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile. (23297869)
2013
3
Ichthyosis vulgaris: the filaggrin mutation disease. (23301728)
2013
4
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
5
Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]. (23744309)
2013
6
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
7
Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population. (22299762)
2012
8
Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence. (23331396)
2012
9
Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population. (22612618)
2012
10
Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese. (21496060)
2011
11
Overexpression of constitutively active BMP-receptor-IB in mouse skin causes an ichthyosis-vulgaris-like disease. (21079999)
2010
12
Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation]. (20441703)
2010
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
Generalized tinea corporis due to Trichophyton rubrum in ichthyosis vulgaris. (17714151)
2007
18
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (17291859)
2007
19
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. (16444271)
2006
20
Epidermal differentiation complex yields a secret: mutations in the cornification protein filaggrin underlie ichthyosis vulgaris. (16702965)
2006
21
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1. (12473059)
2002
22
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
23
An unusual central retinal dystrophy associated with ichthyosis vulgaris. (10916184)
2000
24
Dermacase. Ichthyosis vulgaris. (9870115)
1998
25
Disaggregation of corneocytes from surfactant-treated sheets of stratum corneum in hyperkeratosis on psoriasis, ichthyosis vulgaris and atopic dermatitis. (9241964)
1997
26
A statistical study on in vivo sorption and desorption of water in ichthyosis vulgaris. (8182215)
1994
27
Stereological studies of desmosomes in ichthyosis vulgaris. (1536758)
1992
28
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
29
Essential-fatty-acid metabolites in plasma phospholipids in patients with ichthyosis vulgaris, acne vulgaris and psoriasis. (2142029)
1990
30
Proliferation and differentiation of cultured epidermal cells from patients with X-linked ichthyosis and ichthyosis vulgaris. (1969216)
1990
31
Atopic dermatitis--ichthyosis vulgaris--hyperlinear palms--an ultrastructural study. (2767287)
1989
32
Are hyperlinear palms and dry skin signs of a concomitant autosomal ichthyosis vulgaris in atopic dermatitis? (2477977)
1989
33
Conjunctival and canalicular papillomas and ichthyosis vulgaris. (3178078)
1988
34
Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal. (2437218)
1987
35
Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing. (6584254)
1984
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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Clinvar genetic disease variations for Ichthyosis Vulgaris:

6
id Gene Name Type Significance SNP ID Assembly Location
1FLGNM_002016.1(FLG): c.1501C> T (p.Arg501Ter)single nucleotide variantPathogenic, risk factorrs61816761GRCh37Chr 1, 152285861: 152285861
2FLGFLG, 4-BP DEL, 2282CAGTdeletionPathogenic
3FLGNM_002016.1(FLG): c.7661C> G (p.Ser2554Ter)single nucleotide variantPathogenicrs121909626GRCh37Chr 1, 152279701: 152279701
4FLGFLG, 1-BP DEL, 3321AdeletionPathogenic

Expression for genes affiliated with Ichthyosis Vulgaris

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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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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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Compounds related to Ichthyosis Vulgaris according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1dithranol449.6FLG, IVL
2vitamin a44 24 1111.5KRT14, LOR, TGM1
3monodansylcadaverine449.4IVL, TGM1
4histidine449.3FLG, LOR, STS, KRT14
5allergens449.3FLG, IVL
6arsenate449.3STS, FLG, IVL
7urea44 24 1111.3KRT14, FLG, IVL
8bromodeoxyuridine449.2IVL, FLG, KRT14
9collodion449.2IVL, TGM1, LOR
10epsilon-(gamma-glutamyl)lysine449.2LOR, TGM1, IVL
111,25 dihydroxy vitamin d3449.1TGM1, IVL
12gf 109203x44 6110.1FLG, TGM1, IVL
13cholesterol-sulfate44 1110.1STS, TGM1, IVL
14progesterone44 28 61 24 1113.1TGM1, STS, KRT14
15calcitriol44 61 24 1112.1IVL, TGM1, FLG
16proline449.0KRT14, LOR, IVL
17hematoxylin449.0IVL, FLG, LOR, KRT14
18vitamin d448.9KRT14, TGM1, IVL
19sodium dodecylsulfate448.8TGM1, IVL
20calcipotriol44 61 28 1111.8KRT14, FLG, TGM1, IVL
21cholesterol44 28 24 1111.8KRT14, STS, LOR, IVL
22retinoid448.8KRT14, FLG, TGM1, IVL
23cysteine448.7IVL, FLG, STS, KRT14
24serine448.4IVL, FLG, LOR, STS, KRT14
25tyrosine448.3IVL, FLG, STS, KRT14, NPHS2
26retinoic acid44 249.0IVL, TGM1, FLG, LOR, STS, KRT14
27steroid448.0IVL, TGM1, FLG, LOR, STS, NPHS2
28calcium44 50 24 1110.6IVL, TGM1, FLG, LOR, STS, KRT14
29lipid447.0NPHS2, ABCA12, IVL, TGM1, FLG, LOR

GO Terms for genes affiliated with Ichthyosis Vulgaris

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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36MGI
39NCIt
40NDF-RT
43NINDS
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