MCID: ICH001
MIFTS: 52

Ichthyosis Vulgaris malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Ichthyosis Vulgaris

About this section

Ichthyosis Vulgaris, Aliases & Descriptions:

Name: Ichthyosis Vulgaris 45 9 10 41 20 11 43 22 60
Dominant Congenital Ichthyosiform Erythroderma 9
Congenital Ichthyosis 60
Ichthyosis Simplex 41
 
Fish Scale Disease 41
Common Ichthyosis 41
Ichthyoses 60


Classifications:

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


External Ids:

OMIM45 146700
Disease Ontology9 DOID:1702
NCIt38 C84778
ICD1025 Q80.0

Summaries for Ichthyosis Vulgaris

About this section


NIH Rare Diseases:41 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 atopic dermatitis, and has symptoms including eczematoid dermatitis, asthma and autosomal dominant inheritance. 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:63 Ichthyosis vulgaris (also known as \"Autosomal dominant ichthyosis,\" and \"Ichthyosis simplex\") is a... more...

Description from OMIM:45 146700

Related Diseases for Ichthyosis Vulgaris

About this section

Diseases in the Ichthyosis Vulgaris family:

Dominant Ichthyosis Vulgaris

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

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1dermatitis31.5KRT14, FLG
2atopic dermatitis31.4IVL, FLG, LOR
3eczema herpeticum30.7FLG2
4lichen planus30.7IVL, FLG
5ichthyosis, x-linked30.6FLG, STS
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
14atopy10.3
15acne10.3
16alopecia10.3
17twenty-nail dystrophy10.3
18epidermolysis bullosa10.2KRT14, FLG
19leukoplakia10.2IVL, 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
28ichthyosis, acquired10.1
29mucoepidermoid carcinoma10.1IVL, KRT14
30pycnodysostosis10.1
31netherton syndrome10.1
32leprosy10.1
33alopecia universalis10.1
34cryptorchidism10.1
35duchenne muscular dystrophy10.1
36leukemia10.1
37skin conditions10.1
38peeling skin syndrome10.1
39hypogonadism10.1
40methylmalonic acidemia10.1
41muscular dystrophy10.1
42nephrotic syndrome10.1
43retinitis10.1
44rhabdomyosarcoma10.1
45tinea corporis10.1
46ichthyosis hystrix gravior10.1
47inflammatory linear verrucous epidermal nevus10.1
48linear and whorled nevoid hypermelanosis10.1
49pityriasis rotunda10.1
50blindness10.1

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



Diseases related to ichthyosis vulgaris

Symptoms for Ichthyosis Vulgaris

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Ichthyosis Vulgaris

Search NIH Clinical Center for Ichthyosis Vulgaris

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Ichthyosis Vulgaris

About this section

Genetic tests related to Ichthyosis Vulgaris:

id Genetic test Affiliating Genes
1 Ichthyosis Vulgaris20 22 FLG

Anatomical Context for Ichthyosis Vulgaris

About this section

MalaCards organs/tissues related to Ichthyosis Vulgaris:

31
Skin, Testes

Animal Models for Ichthyosis Vulgaris or affiliated genes

About this section

MGI Mouse Phenotypes related to Ichthyosis Vulgaris:

35
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

About this section

Articles related to Ichthyosis Vulgaris:

(show top 50)    (show all 121)
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
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

About this section

Clinvar genetic disease variations for Ichthyosis Vulgaris:

6
id Gene Variation 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, risk factor
3FLGNM_002016.1(FLG): c.7661C> G (p.Ser2554Ter)single nucleotide variantPathogenic, risk factorrs121909626GRCh37Chr 1, 152279701: 152279701
4FLGFLG, 1-BP DEL, 3321AdeletionPathogenic, risk factor

Expression for genes affiliated with Ichthyosis Vulgaris

About this section
Search GEO for disease gene expression data for Ichthyosis Vulgaris.

Pathways for genes affiliated with Ichthyosis Vulgaris

About this section

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

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

Compounds for genes affiliated with Ichthyosis Vulgaris

About this section

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

(show all 29)
idCompoundScoreTop Affiliating Genes
1dithranol439.6FLG, IVL
2vitamin a43 24 1211.5TGM1, KRT14, LOR
3monodansylcadaverine439.4IVL, TGM1
4histidine439.3STS, LOR, FLG, KRT14
5allergens439.3FLG, IVL
6arsenate439.3STS, FLG, IVL
7urea43 24 1211.3KRT14, IVL, FLG
8bromodeoxyuridine439.2KRT14, IVL, FLG
9collodion439.2IVL, TGM1, LOR
10epsilon-(gamma-glutamyl)lysine439.2LOR, IVL, TGM1
111,25 dihydroxy vitamin d3439.1IVL, TGM1
12gf 109203x43 5910.1IVL, TGM1, FLG
13cholesterol-sulfate43 1210.1TGM1, STS, IVL
14progesterone43 28 59 24 1213.1KRT14, TGM1, STS
15calcitriol43 59 24 1212.1TGM1, IVL, FLG
16proline439.0KRT14, IVL, LOR
17hematoxylin439.0LOR, KRT14, IVL, FLG
18vitamin d438.9TGM1, KRT14, IVL
19sodium dodecylsulfate438.8IVL, TGM1
20calcipotriol43 59 28 1211.8TGM1, FLG, KRT14, IVL
21cholesterol43 28 24 1211.8IVL, STS, KRT14, LOR
22retinoid438.8IVL, TGM1, FLG, KRT14
23cysteine438.7FLG, STS, IVL, KRT14
24serine438.4KRT14, IVL, LOR, STS, FLG
25tyrosine438.3STS, NPHS2, KRT14, FLG, IVL
26retinoic acid43 249.0LOR, FLG, TGM1, IVL, KRT14, STS
27steroid438.0FLG, LOR, STS, TGM1, NPHS2, IVL
28calcium43 49 24 1210.6NPHS2, STS, IVL, KRT14, LOR, FLG
29lipid437.0KRT14, LOR, STS, TGM1, IVL, ABCA12

GO Terms for genes affiliated with Ichthyosis Vulgaris

About this section

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.5KRT14, FLG
2cornified envelopeGO:00015338.7LOR, TGM1, IVL
3extracellular vesicular exosomeGO:00700628.3NPHS2, KRT14, TGM1, IVL

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

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:00085449.7STS, KRT14
2establishment of skin barrierGO:00614368.9FLG, FLG2, ABCA12
3peptide cross-linkingGO:00181498.5IVL, TGM1, LOR
4keratinocyte differentiationGO:00302168.5TGM1, FLG, LOR, IVL
5keratinizationGO:00314248.2LOR, TGM1, ABCA12, IVL

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.8KRT14, LOR
2protein binding, bridgingGO:00306749.0LOR, IVL
3structural molecule activityGO:00051988.4LOR, FLG, FLG2, IVL

Products for genes affiliated with Ichthyosis Vulgaris

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ichthyosis Vulgaris

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet