VI
MCID: ICH001
MIFTS: 46

Ichthyosis Vulgaris (VI) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Vulgaris

Aliases & Descriptions for Ichthyosis Vulgaris:

Name: Ichthyosis Vulgaris 54 12 50 24 66 29 13 52 42 14 69
Ichthyosis Simplex 50 24 66
Vi 66 3
Dominant Congenital Ichthyosiform Erythroderma 12
Congenital Ichthyosis 69
Fish Scale Disease 50
Common Ichthyosis 50
Ichthyoses 69

Characteristics:

HPO:

32
ichthyosis vulgaris:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 146700
Disease Ontology 12 DOID:1702
ICD10 33 Q80.0
MeSH 42 D016112
NCIt 47 C84778
MedGen 40 C0079584
UMLS 69 C0079584

Summaries for Ichthyosis Vulgaris

CDC : 3 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 ichthyosis, asthma and eczematoid dermatitis. An important gene associated with Ichthyosis Vulgaris is FLG (Filaggrin), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin and testes.

NIH Rare Diseases : 50 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 : 66 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 : 71 Ichthyosis vulgaris (also known as \"Autosomal dominant ichthyosis,\" and \"Ichthyosis simplex\") is a... more...

Description from OMIM: 146700

Related Diseases for Ichthyosis Vulgaris

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 126)
id Related Disease Score Top Affiliating Genes
1 glycogen storage disease vi 12.3
2 mucopolysaccharidosis type vi 12.3
3 osteogenesis imperfecta, type vi 12.2
4 ehlers-danlos syndrome, type vi 12.2
5 collagen vi-related myopathy 12.1
6 dominant ichthyosis vulgaris 12.1
7 orofaciodigital syndrome vi 12.1
8 neuropathy, hereditary sensory and autonomic, type vi 12.1
9 collagen vi related muscular dystrophy 12.0
10 neuronopathy, distal hereditary motor, type vi 11.9
11 collagen type vi-related disorders 11.9
12 albinism, oculocutaneous, type vi 11.8
13 collagen type vi-related autosomal dominant limb-girdle muscular dystrophy 11.7
14 bleeding disorder, platelet-type, 11 11.6
15 hereditary motor and sensory neuropathy via 11.6
16 ichthyosis, acquired 11.1
17 ehlers-danlos syndrome, kyphoscoliotic form 11.0
18 polydactyly cleft lip palate psychomotor retardation 11.0
19 short-rib thoracic dysplasia 8 with or without polydactyly 11.0
20 refsum disease 11.0
21 pityriasis rotunda 11.0
22 ichthyosis, x-linked 11.0
23 abducens nerve disease 10.9
24 cowden syndrome 1 10.8
25 xeroderma pigmentosum, group f 10.8
26 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.8
27 maturity-onset diabetes of the young 6 10.8
28 ichthyosis 10.7
29 mucopolysaccharidosis type 6, slowly progressing 10.7
30 cerebral amyloid angiopathy 10.7
31 mucopolysaccharidosis type 6, rapidly progressing 10.7
32 ehlers-danlos syndrome, classic type 10.7
33 enchondromatosis, multiple, ollier type 10.7
34 bethlem myopathy 1 10.7
35 ullrich congenital muscular dystrophy 1 10.7
36 moebius syndrome 10.7
37 ehlers-danlos syndrome, type viic 10.7
38 third cranial nerve disease 10.7
39 brown-vialetto-van laere syndrome 1 10.7
40 ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 10.7
41 ehlers-danlos syndrome, type viib 10.7
42 ehlers-danlos syndrome, type iii 10.7
43 duane retraction syndrome 2 10.7
44 duane retraction syndrome 1 10.7
45 ehlers-danlos syndrome, type iv 10.7
46 3-methylglutaconic aciduria, type i 10.7
47 multiple enchondromatosis, maffucci type 10.7
48 mucopolysaccharidosis 10.5
49 prostate cancer 10.4
50 colorectal cancer 10.4

Comorbidity relations with Ichthyosis Vulgaris via Phenotypic Disease Network (PDN):


Sjogren's Syndrome

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



Diseases related to Ichthyosis Vulgaris

Symptoms & Phenotypes for Ichthyosis Vulgaris

Symptoms by clinical synopsis from OMIM:

146700

Clinical features from OMIM:

146700

Human phenotypes related to Ichthyosis Vulgaris:

32
id Description HPO Frequency HPO Source Accession
1 ichthyosis 32 HP:0008064
2 asthma 32 HP:0002099
3 eczematoid dermatitis 32 HP:0000976

UMLS symptoms related to Ichthyosis Vulgaris:


trichorrhexis invaginata

Drugs & Therapeutics for Ichthyosis Vulgaris

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris Recruiting NCT03173547 Phase 2
2 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
3 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
4 Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis Vulgaris Enrolling by invitation NCT02978209

Search NIH Clinical Center for Ichthyosis Vulgaris

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: ichthyosis vulgaris

Genetic Tests for Ichthyosis Vulgaris

Genetic tests related to Ichthyosis Vulgaris:

id Genetic test Affiliating Genes
1 Ichthyosis Vulgaris 29 24 FLG

Anatomical Context for Ichthyosis Vulgaris

MalaCards organs/tissues related to Ichthyosis Vulgaris:

39
Skin, Testes

Publications for Ichthyosis Vulgaris

Articles related to Ichthyosis Vulgaris:

(show top 50) (show all 128)
id Title Authors Year
1
Prevalence of filaggrin gene mutations in patients with atopic dermatitis and ichthyosis vulgaris in Kyushu area of Japan and South Korea. ( 28143684 )
2017
2
Targeted next-generation sequencing identifies 9 novel FLG variants in Chinese Han patients with ichthyosis vulgaris. ( 28407221 )
2017
3
Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation. ( 27530091 )
2016
4
[Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris]. ( 27577213 )
2016
5
Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond. ( 27667308 )
2016
6
Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris. ( 26396540 )
2015
7
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis. ( 25819062 )
2015
8
The Effect of Dietary Change in a Patient With Ichthyosis Vulgaris: A Case Report. ( 26770148 )
2015
9
Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis. ( 24920311 )
2014
10
A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris. ( 25115336 )
2014
11
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile. ( 23297869 )
2013
12
Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV. ( 23290076 )
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
[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]. ( 23744309 )
2013
15
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
16
Ichthyosis vulgaris: the filaggrin mutation disease. ( 23301728 )
2013
17
A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris. ( 23870202 )
2013
18
Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence. ( 23331396 )
2012
19
Topographic and biomechanical evaluation of cornea in patients with ichthyosis vulgaris. ( 22677890 )
2012
20
Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population. ( 22299762 )
2012
21
Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population. ( 22612618 )
2012
22
Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese. ( 21496060 )
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
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. ( 21514438 )
2011
25
Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. ( 22164253 )
2011
26
Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families. ( 21712002 )
2011
27
Atopic dermatitis and ichthyosis vulgaris caused by irritants in a professional windsurfer. ( 21569747 )
2011
28
Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients. ( 21747615 )
2011
29
Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris. ( 20222934 )
2010
30
FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics. ( 19958351 )
2010
31
Molecular studies of ichthyosis vulgaris in Pakistani families. ( 20943104 )
2010
32
[Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation]. ( 20441703 )
2010
33
Overexpression of constitutively active BMP-receptor-IB in mouse skin causes an ichthyosis-vulgaris-like disease. ( 21079999 )
2010
34
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. ( 19239468 )
2009
35
Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. ( 19416262 )
2009
36
Unrecognized dermatophyte infection in ichthyosis vulgaris. ( 19595270 )
2009
37
Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. ( 19183181 )
2009
38
Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis. ( 18841000 )
2009
39
Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. ( 19037238 )
2009
40
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
41
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. ( 18200065 )
2008
42
Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. ( 18239616 )
2008
43
Identification of a genetic locus for ichthyosis vulgaris on chromosome 10q22.3-q24.2. ( 18079749 )
2008
44
Clinical detection of ichthyosis vulgaris in an atopic dermatitis clinic: implications for allergic respiratory disease and prognosis. ( 18455261 )
2008
45
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. ( 17291859 )
2007
46
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. ( 17417636 )
2007
47
Generalized tinea corporis due to Trichophyton rubrum in ichthyosis vulgaris. ( 17714151 )
2007
48
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. ( 17164798 )
2007
49
On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis. ( 17573887 )
2007
50
Linear and whorled nevoid hypermelanosis complicated with inflammatory linear verrucous epidermal nevus and ichthyosis vulgaris. ( 17973817 )
2007

Variations for Ichthyosis Vulgaris

ClinVar genetic disease variations for Ichthyosis Vulgaris:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FLG NM_002016.1(FLG): c.1501C> T (p.Arg501Ter) single nucleotide variant Pathogenic,risk factor rs61816761 GRCh37 Chromosome 1, 152285861: 152285861
2 FLG NM_002016.1(FLG): c.2282_2285delCAGT (p.Ser761Cysfs) deletion risk factor rs558269137 GRCh38 Chromosome 1, 152312601: 152312604
3 FLG NM_002016.1(FLG): c.7661C> G (p.Ser2554Ter) single nucleotide variant Pathogenic,risk factor rs121909626 GRCh37 Chromosome 1, 152279701: 152279701
4 FLG FLG, 1-BP DEL, 3321A deletion Pathogenic,risk factor
5 FLG NM_002016.1(FLG): c.2143C> T (p.Gln715Ter) single nucleotide variant Pathogenic rs797045090 GRCh37 Chromosome 1, 152285219: 152285219
6 FLG NM_002016.1(FLG): c.899_903delACAGG (p.Asp300Glyfs) deletion Likely pathogenic rs1060499587 GRCh37 Chromosome 1, 152286459: 152286463

Expression for Ichthyosis Vulgaris

Search GEO for disease gene expression data for Ichthyosis Vulgaris.

Pathways for Ichthyosis Vulgaris

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 FLG KRT1 KRT14 LOR TGM1
2
Show member pathways
11.48 FLG KRT1 KRT14 LOR TGM1
3 11.12 KRT1 KRT14

GO Terms for Ichthyosis Vulgaris

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

id Name GO ID Score Top Affiliating Genes
1 keratin filament GO:0045095 9.16 KRT1 KRT14
2 intermediate filament GO:0005882 9.13 FLG KRT1 KRT14
3 cornified envelope GO:0001533 8.92 FLG KRT1 LOR TGM1

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

id Name GO ID Score Top Affiliating Genes
1 keratinocyte differentiation GO:0030216 9.67 ABCA12 FLG LOR TGM1
2 keratinization GO:0031424 9.65 ABCA12 KRT1 KRT14 LOR TGM1
3 skin epidermis development GO:0098773 9.5 FLG KRT1 LOR
4 peptide cross-linking GO:0018149 9.46 FLG KRT1 LOR TGM1
5 cornification GO:0070268 9.35 FLG KRT1 KRT14 LOR TGM1
6 establishment of skin barrier GO:0061436 8.92 ABCA12 FLG FLG2 KRT1

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

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.26 FLG FLG2 KRT1 LOR
2 transition metal ion binding GO:0046914 9.16 FLG FLG2
3 structural constituent of epidermis GO:0030280 8.8 FLG KRT1 LOR

Sources for Ichthyosis Vulgaris

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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