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 52 11 48 24 70 27 12 50 39 13 68
Ichthyosis Simplex 48 24 70
Vi 70 2
Dominant Congenital Ichthyosiform Erythroderma 11
 
Congenital Ichthyosis 68
Fish Scale Disease 48
Common Ichthyosis 48
Ichthyoses 68

Characteristics:

HPO:

64
ichthyosis vulgaris:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 146700
Disease Ontology11 DOID:1702
ICD1030 Q80.0
MeSH39 D016112
NCIt45 C84778
MedGen37 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.

UniProtKB/Swiss-Prot:70 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.

NIH Rare Diseases:48 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

Wikipedia:71 Ichthyosis vulgaris (also known as \"Autosomal dominant ichthyosis,\" and \"Ichthyosis simplex\") is a... more...

Description from OMIM:52 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 eczematoid dermatitis64 frequent (33%) HP:0000976
2 asthma64 frequent (33%) HP:0002099
3 ichthyosis64 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 UMLS68/NDF-RT46:


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 Vulgaris27 24 FLG

Anatomical Context for Ichthyosis Vulgaris

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MalaCards organs/tissues related to Ichthyosis Vulgaris:

36
Skin, Testes

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
Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond. (27667308)
2016
3
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis. (25819062)
2015
4
The Effect of Dietary Change in a Patient With Ichthyosis Vulgaris: A Case Report. (26770148)
2015
5
Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris. (26396540)
2015
6
A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris. (25115336)
2014
7
Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis. (24920311)
2014
8
Ichthyosis vulgaris: the filaggrin mutation disease. (23301728)
2013
9
Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]. (23744309)
2013
10
A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris. (23870202)
2013
11
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile. (23297869)
2013
12
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
13
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
14
Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV. (23290076)
2013
15
Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence. (23331396)
2012
16
Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population. (22612618)
2012
17
Topographic and biomechanical evaluation of cornea in patients with ichthyosis vulgaris. (22677890)
2012
18
Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population. (22299762)
2012
19
Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese. (21496060)
2011
20
Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families. (21712002)
2011
21
Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients. (21747615)
2011
22
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. (21514438)
2011
23
Efficacy of topical 10% urea-based lotion in patients with ichthyosis vulgaris: a two-center, randomized, controlled, single-blind, right-vs.-left study in comparison with standard glycerol-based emollient cream. (22007909)
2011
24
Atopic dermatitis and ichthyosis vulgaris caused by irritants in a professional windsurfer. (21569747)
2011
25
Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. (22164253)
2011
26
Overexpression of constitutively active BMP-receptor-IB in mouse skin causes an ichthyosis-vulgaris-like disease. (21079999)
2010
27
Molecular studies of ichthyosis vulgaris in Pakistani families. (20943104)
2010
28
FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics. (19958351)
2010
29
Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation]. (20441703)
2010
30
Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris. (20222934)
2010
31
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. (19239468)
2009
32
Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (19037238)
2009
33
Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. (19416262)
2009
34
Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis. (18841000)
2009
35
Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. (19183181)
2009
36
Unrecognized dermatophyte infection in ichthyosis vulgaris. (19595270)
2009
37
Identification of a genetic locus for ichthyosis vulgaris on chromosome 10q22.3-q24.2. (18079749)
2008
38
Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. (18239616)
2008
39
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. (18200065)
2008
40
Clinical detection of ichthyosis vulgaris in an atopic dermatitis clinic: implications for allergic respiratory disease and prognosis. (18455261)
2008
41
De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. (18007582)
2008
42
Linear and whorled nevoid hypermelanosis complicated with inflammatory linear verrucous epidermal nevus and ichthyosis vulgaris. (17973817)
2007
43
Generalized tinea corporis due to Trichophyton rubrum in ichthyosis vulgaris. (17714151)
2007
44
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (17291859)
2007
45
On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis. (17573887)
2007
46
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. (17417636)
2007
47
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. (17164798)
2007
48
Methylmalonic acidemia presenting with an ichthyosis vulgaris-like aspect. (17845195)
2007
49
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. (16444271)
2006
50
Epidermal differentiation complex yields a secret: mutations in the cornification protein filaggrin underlie ichthyosis vulgaris. (16702965)
2006

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
1cornified envelopeGO:00015339.8LOR, TGM1
2keratin filamentGO:00450959.5KRT1, KRT14

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

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:000854410.2KRT14, STS
2keratinizationGO:00314249.4ABCA12, LOR, TGM1
3establishment of skin barrierGO:00614369.3ABCA12, FLG, FLG2, KRT1
4peptide cross-linkingGO:00181499.3LOR, TGM1
5keratinocyte differentiationGO:00302169.0ABCA12, FLG, LOR, TGM1

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet