MCID: ICH001
MIFTS: 51

Ichthyosis Vulgaris malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Ichthyosis Vulgaris

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Aliases & Descriptions for Ichthyosis Vulgaris:

Name: Ichthyosis Vulgaris 49 10 11 45 22 47 12 24 65 36 67
Ichthyosis Simplex 45 22 67
Dominant Congenital Ichthyosiform Erythroderma 10
Congenital Ichthyosis 65
 
Fish Scale Disease 45
Common Ichthyosis 45
Ichthyoses 65
Vi 67


Classifications:



External Ids:

OMIM49 146700
Disease Ontology10 DOID:1702
NCIt42 C84778
ICD1027 Q80.0
MedGen34 C0079584

Summaries for Ichthyosis Vulgaris

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NIH Rare Diseases:45 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 ichthyosis simplex, is related to ehlers-danlos syndrome and netherton syndrome, 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 has been mentioned in the context of this disorder. Affiliated tissues include skin and testes, and related mouse phenotypes are integument and growth/size/body.

UniProtKB/Swiss-Prot:67 Ichthyosis vulgaris: The most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever.

Description from OMIM:49 146700

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 Suite gene sharing:

(show top 50)    (show all 622)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome31.0ABCA12, TGM1
2netherton syndrome30.3FLG, TGM1
3ischemia30.2FLG, LOR
4ichthyosis11.2
5mucopolysaccharidosis11.0
6mucopolysaccharidosis type vi10.8
7atopic dermatitis10.8
8dermatitis10.8
9dominant ichthyosis vulgaris10.7
10myopathy10.6
11ehlers-danlos syndrome, type vi10.6
12asthma10.6
13typhoid fever10.5
14obstructive lung disease10.5
15glycogen storage disease vi10.5
16allergic asthma10.5
17asthma 110.5
18pulmonary disease, chronic obstructive10.5
19cork-handlers' disease10.5
20non-suppurative otitis media10.5
21asthma 210.5
22respiratory system disease10.5
23autonomic nervous system disease10.5
24peripheral nervous system disease10.5
25collagen vi-related myopathy10.5
26mucopolysaccharidoses10.5
27osteogenesis imperfecta, type vi10.4
28endotheliitis10.4
29hepatitis10.4
30atopy10.4
31psoriasis10.4
32neuronopathy, distal hereditary motor, type vi10.3
33connective tissue disease10.3
34myocardial infarction10.3
35orofaciodigital syndrome vi10.3
36neuropathy, hereditary sensory and autonomic, type vi10.3
37familial mediterranean fever, ar10.3
38lysosomal storage disease10.3
39melanoma10.3
40carbohydrate metabolic disorder10.3
41mucinoses10.3
42thyroiditis10.3
43acne10.3
44alopecia10.3
45skin conditions10.3
46skin disease10.3
47lichen planus10.3
48keratosis10.3
49twenty-nail dystrophy10.3
50glycogen storage disease10.3

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American PopulationCompletedNCT01016106
2Studies of Skin Microbes in Healthy People and in People With Skin ConditionsRecruitingNCT00605878

Search NIH Clinical Center for Ichthyosis Vulgaris

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: Ichthyosis Vulgaris

Genetic Tests for Ichthyosis Vulgaris

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Genetic tests related to Ichthyosis Vulgaris:

id Genetic test Affiliating Genes
1 Ichthyosis Vulgaris22 24 FLG

Anatomical Context for Ichthyosis Vulgaris

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MalaCards organs/tissues related to Ichthyosis Vulgaris:

33
Skin, Testes

Animal Models for Ichthyosis Vulgaris or affiliated genes

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MGI Mouse Phenotypes related to Ichthyosis Vulgaris:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.3ABCA12, FLG, KRT1, KRT14, LOR, TGM1
2MP:00053786.8ABCA12, FLG, KRT1, KRT14, LOR, PHYH
3MP:00053766.8ABCA12, FLG, KRT1, KRT14, LOR, PHYH

Publications for Ichthyosis Vulgaris

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Articles related to Ichthyosis Vulgaris:

(show top 50)    (show all 122)
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

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Clinvar genetic disease variations for Ichthyosis Vulgaris:

5
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
2FLGNM_002016.1(FLG): c.2282_2285delCAGT (p.Ser761Cysfs)deletionPathogenic, risk factorrs558269137GRCh38Chr 1, 152312601: 152312604
3FLGNM_002016.1(FLG): c.7661C> G (p.Ser2554Ter)single nucleotide variantPathogenic, risk factorrs121909626GRCh37Chr 1, 152279701: 152279701
4FLGFLG, 1-BP DEL, 3321AdeletionPathogenic, risk factor
5FLGNM_002016.1(FLG): c.2143C> T (p.Gln715Ter)single nucleotide variantPathogenicrs797045090GRCh37Chr 1, 152285219: 152285219

Expression for genes affiliated with Ichthyosis Vulgaris

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Search GEO for disease gene expression data for Ichthyosis Vulgaris.

Pathways for genes affiliated with Ichthyosis Vulgaris

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3KRT1, KRT14

GO Terms for genes affiliated with Ichthyosis Vulgaris

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

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:00015339.6LOR, TGM1
2keratin filamentGO:00450959.2KRT1, KRT14
3intermediate filamentGO:00058829.0FLG, KRT1, KRT14

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

idNameGO IDScoreTop Affiliating Genes
1peptide cross-linkingGO:00181499.6LOR, TGM1
2establishment of skin barrierGO:00614369.5ABCA12, FLG, KRT1
3keratinizationGO:00314249.2ABCA12, LOR, TGM1
4keratinocyte differentiationGO:00302168.5ABCA12, FLG, LOR, TGM1

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.5KRT14, LOR
2structural molecule activityGO:00051988.3FLG, KRT1, KRT14, LOR

Sources for Ichthyosis Vulgaris

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet