MCID: ICH001
MIFTS: 44

Ichthyosis Vulgaris malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Vulgaris

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Aliases & Descriptions for Ichthyosis Vulgaris:

Name: Ichthyosis Vulgaris 51 11 47 24 69 26 12 49 38 13 67
Ichthyosis Simplex 47 24 69
Vi 69 2
Dominant Congenital Ichthyosiform Erythroderma 11
 
Congenital Ichthyosis 67
Fish Scale Disease 47
Common Ichthyosis 47
Ichthyoses 67

Characteristics:

HPO:

63
ichthyosis vulgaris:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 146700
Disease Ontology11 DOID:1702
ICD1029 Q80.0
MeSH38 D016112
NCIt44 C84778
MedGen36 C0079584

Summaries for Ichthyosis Vulgaris

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CDC:2 Hexavalent chromium (Cr(VI)) compounds are a large group of chemicals with varying chemical properties, uses, and workplace exposures. Their properties include corrosion-resistance, durability, and hardness. Workers may be exposed to airborne Cr(VI) when these compounds are manufactured from other forms of chromium (e.g., the production of chromates from chromite ore); when products containing Cr(VI) are used to manufacture other products (e.g., chromate-containing paints, electroplating); or when products containing other forms of chromium are used in processes that result in the formation of Cr(VI) as a by-product (e.g., welding).

MalaCards based summary: Ichthyosis Vulgaris, also known as ichthyosis simplex, is related to glycogen storage disease vi and mucopolysaccharidosis type vi, and has symptoms including eczematoid dermatitis, asthma and ichthyosis. 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.

NIH Rare Diseases:47 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

UniProtKB/Swiss-Prot:69 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.

Wikipedia:70 Ichthyosis vulgaris (also known as \"Autosomal dominant ichthyosis,\" and \"Ichthyosis simplex\") is a... more...

Description from OMIM:51 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 111)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease vi12.3
2mucopolysaccharidosis type vi12.3
3osteogenesis imperfecta, type vi12.2
4ehlers-danlos syndrome, type vi12.2
5dominant ichthyosis vulgaris12.1
6collagen vi-related myopathy12.1
7orofaciodigital syndrome vi12.1
8neuropathy, hereditary sensory and autonomic, type vi12.1
9neuronopathy, distal hereditary motor, type vi11.9
10collagen type vi-related disorders11.9
11albinism, oculocutaneous, type vi11.8
12collagen type vi-related autosomal dominant limb-girdle muscular dystrophy11.7
13collagen vi related muscular dystrophy11.7
14hereditary motor and sensory neuropathy via11.6
15ehlers-danlos syndrome, kyphoscoliotic form11.0
16refsum disease11.0
17ichthyosis, x-linked11.0
18ichthyosis, acquired11.0
19short-rib thoracic dysplasia 8 with or without polydactyly11.0
20polydactyly cleft lip palate psychomotor retardation11.0
21bleeding disorder, platelet-type, 1110.9
22abducens nerve disease10.9
23maturity-onset diabetes of the young 610.8
243-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome10.8
25cowden syndrome 110.8
26duane retraction syndrome 210.7
27ehlers-danlos syndrome, type iv10.7
28ehlers-danlos syndrome, classic type10.7
29bethlem myopathy 110.7
30ullrich congenital muscular dystrophy 110.7
31ehlers-danlos syndrome, type viic10.7
32ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
33ehlers-danlos syndrome, type viib10.7
34duane retraction syndrome 110.7
353-methylglutaconic aciduria, type i10.7
36moebius syndrome10.7
37brown-vialetto-van laere syndrome 110.7
38ehlers-danlos syndrome, type iii10.7
39multiple enchondromatosis, maffucci type10.7
40enchondromatosis, multiple, ollier type10.7
41third cranial nerve disease10.7
42brittle cornea syndrome 210.7
43xeroderma pigmentosum, group f10.7
44cerebral amyloid angiopathy10.7
45mucopolysaccharidosis type 6, slowly progressing10.7
46mucopolysaccharidosis type 6, rapidly progressing10.7
47mucopolysaccharidosis10.5
48prostate cancer10.4
49colorectal cancer10.4
50rectosigmoid junction neoplasm10.4FLG, LOR

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

Human phenotypes related to Ichthyosis Vulgaris:

 63
id Description HPO Frequency HPO Source Accession
1 eczematoid dermatitis63 frequent (33%) HP:0000976
2 asthma63 frequent (33%) HP:0002099
3 ichthyosis63 HP:0008064

UMLS symptoms related to Ichthyosis Vulgaris:


harlequin change, trichorrhexis invaginata

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
3Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis VulgarisEnrolling by invitationNCT02978209

Search NIH Clinical Center for Ichthyosis Vulgaris

Inferred drug relations via UMLS67/NDF-RT45:


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 Vulgaris26 24 FLG

Anatomical Context for Ichthyosis Vulgaris

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MalaCards organs/tissues related to Ichthyosis Vulgaris:

35
Skin, Testes

Animal Models for Ichthyosis Vulgaris or affiliated genes

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Publications for Ichthyosis Vulgaris

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Articles related to Ichthyosis Vulgaris:

(show top 50)    (show all 125)
idTitleAuthorsYear
1
Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation. (27530091)
2016
2
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis. (25819062)
2015
3
The Effect of Dietary Change in a Patient With Ichthyosis Vulgaris: A Case Report. (26770148)
2015
4
Ichthyosis vulgaris: the filaggrin mutation disease. (23301728)
2013
5
Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]. (23744309)
2013
6
A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris. (23870202)
2013
7
Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence. (23331396)
2012
8
Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population. (22612618)
2012
9
Topographic and biomechanical evaluation of cornea in patients with ichthyosis vulgaris. (22677890)
2012
10
Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese. (21496060)
2011
11
Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families. (21712002)
2011
12
Overexpression of constitutively active BMP-receptor-IB in mouse skin causes an ichthyosis-vulgaris-like disease. (21079999)
2010
13
Molecular studies of ichthyosis vulgaris in Pakistani families. (20943104)
2010
14
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. (19239468)
2009
15
Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (19037238)
2009
16
Identification of a genetic locus for ichthyosis vulgaris on chromosome 10q22.3-q24.2. (18079749)
2008
17
Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. (18239616)
2008
18
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. (18200065)
2008
19
Linear and whorled nevoid hypermelanosis complicated with inflammatory linear verrucous epidermal nevus and ichthyosis vulgaris. (17973817)
2007
20
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. (16444271)
2006
21
Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22. (12838398)
2003
22
Higher prevalence of X-linked ichthyosis vs. ichthyosis vulgaris in Mexico. (10440291)
1999
23
Ichthyosis vulgaris and X-linked ichthyosis: simultaneous segregation in the same family. (10598781)
1999
24
Ichthyosis vulgaris involving the scalp area affected by androgenetic alopecia. (20921658)
1999
25
Dermacase. Ichthyosis vulgaris. (9870115)
1998
26
Are atopy and palm-sole hyperlinearity clinical tools in the differential diagnosis between ichthyosis vulgaris and X-linked ichthyosis? (9769606)
1998
27
Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris. (9620289)
1998
28
Disaggregation of corneocytes from surfactant-treated sheets of stratum corneum in hyperkeratosis on psoriasis, ichthyosis vulgaris and atopic dermatitis. (9241964)
1997
29
A lipid mixture improves skin hydration in ichthyosis vulgaris. (9427087)
1997
30
A statistical study on in vivo sorption and desorption of water in ichthyosis vulgaris. (8182215)
1994
31
Atopic dermatitis and ichthyosis vulgaris. (8066010)
1994
32
Keratosis punctata of the palmar creases. A report on three generations, demonstrating an association with ichthyosis vulgaris and evidence of involvement of the acrosyringium. (8050151)
1994
33
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
34
Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal. (2437218)
1987
35
Ultrastructural study of the occurrence of autosomal dominant ichthyosis vulgaris in atopic eczema. (2445305)
1987
36
Steroid sulphatase deficiency in patients initially diagnosed as ichthyosis vulgaris or recessive X-linked ichthyosis. (3857937)
1985
37
Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing. (6584254)
1984
38
X-linked recessive ichthyosis vulgaris: rapid identification by lipoprotein electrophoresis. (6682648)
1983
39
Retinol-binding protein in serum and epidermis of patients with ichthyosis vulgaris. (394886)
1979
40
Ichthyosis vulgaris. (761424)
1979
41
Dominant ichthyosis vulgaris. (852147)
1977
42
Morphometric analysis of the dominant and sex-linked forms of ichthyosis vulgaris. (4127459)
1973
43
Ichthyosis vulgaris associated with Gilbert's syndrome. (4698767)
1973
44
A survey of ichthyosis vulgaris in Israel. (5060419)
1972
45
Recurrent eczema herpeticum associated with ichthyosis vulgaris. (4114690)
1972
46
Ichthyosis vulgaris of the autosomal dominant type. (5173268)
1971
47
The granular layer thickness in atopy and ichthyosis vulgaris. (5416673)
1970
48
Histology of autosomal dominant ichthyosis vulgaris and X-linked ichthyosis. (5444074)
1970
49
Accentuation of ichthyosis vulgaris in denervated skin. (5822355)
1969
50
Evaluation of sodium chloride ointments in the treatment of ichthyosis vulgaris. (13697008)
1960

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)SNVPathogenic, 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)SNVPathogenic, risk factorrs121909626GRCh37Chr 1, 152279701: 152279701
4FLGFLG, 1-BP DEL, 3321AdeletionPathogenic, risk factorChr na, -1: -1
5FLGNM_002016.1(FLG): c.2143C> T (p.Gln715Ter)SNVPathogenicrs797045090GRCh37Chr 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 pathwaysScoreTop Affiliating Genes
19.5KRT1, 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
1keratin filamentGO:00450959.5KRT1, KRT14
2cornified envelopeGO:00015339.0LOR, TGM1

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

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:00085449.6KRT14, STS
2peptide cross-linkingGO:00181499.3LOR, TGM1
3keratinizationGO:00314249.2ABCA12, LOR, TGM1
4keratinocyte differentiationGO:00302168.5ABCA12, FLG, LOR, TGM1
5establishment of skin barrierGO:00614368.5ABCA12, FLG, FLG2, KRT1

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051988.8FLG, FLG2, KRT1, LOR

Sources for Ichthyosis Vulgaris

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet