MCID: ICH001
MIFTS: 47

Ichthyosis Vulgaris

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Vulgaris

MalaCards integrated aliases for Ichthyosis Vulgaris:

Name: Ichthyosis Vulgaris 53 12 72 49 71 36 28 13 51 41 14 69
Ichthyosis Simplex 53 49 71
Vi 71 3
Dominant Congenital Ichthyosiform Erythroderma 12
Congenital Ichthyosis 69
Fish Scale Disease 49
Common Ichthyosis 49
Ichthyoses 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
ichthyosis vulgaris:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 146700
Disease Ontology 12 DOID:1702
ICD10 32 Q80.0
MeSH 41 D016112
NCIt 46 C84778
MedGen 39 C0079584
KEGG 36 H00735

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 ichthyosis, x-linked and netherton syndrome, 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 : 49 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 : 71 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 : 72 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 114)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, x-linked 30.0 FLG STS TGM1
2 netherton syndrome 29.7 FLG TGM1
3 ichthyosis 29.3 ABCA12 FLG KRT1 LOR STS TGM1
4 keratosis 29.2 FLG KRT1
5 papilloma 29.0 FLG KRT1 KRT14
6 psoriasis 28.4 FLG KRT1 KRT14 LOR TGM1
7 congenital ichthyosiform erythroderma 27.8 ABCA12 FLG KRT1 LOR STS TGM1
8 skin disease 27.5 ABCA12 FLG KRT1 KRT14 LOR TGM1
9 glycogen storage disease vi 12.5
10 mucopolysaccharidosis type vi 12.5
11 osteogenesis imperfecta, type vi 12.3
12 neuropathy, hereditary sensory and autonomic, type vi 12.3
13 orofaciodigital syndrome vi 12.3
14 collagen vi-related myopathy 12.3
15 dominant ichthyosis vulgaris 12.3
16 collagen vi related muscular dystrophy 12.2
17 bleeding disorder, platelet-type, 11 12.0
18 collagen type vi-related disorders 11.9
19 albinism, oculocutaneous, type vi 11.9
20 ehlers-danlos syndrome, kyphoscoliotic type, 1 11.6
21 neuropathy, hereditary motor and sensory, type via 11.6
22 abducens nerve disease 11.5
23 spinal muscular atrophy, distal, autosomal recessive, 1 11.3
24 factor ix and factor xi, combined deficiency of 11.2
25 bethlem myopathy 1 11.2
26 short-rib thoracic dysplasia 8 with or without polydactyly 11.1
27 polydactyly cleft lip palate psychomotor retardation 11.1
28 xeroderma pigmentosum, complementation group f 11.1
29 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 11.1
30 refsum disease, classic 11.1
31 pityriasis rotunda 11.1
32 glycogen storage disease, type ixd 11.0
33 glycogen storage disease viii 11.0
34 ehlers-danlos syndrome, kyphoscoliotic form 11.0
35 cowden syndrome 1 10.9
36 duane retraction syndrome 1 10.8
37 moebius syndrome 10.8
38 brown-vialetto-van laere syndrome 1 10.8
39 duane retraction syndrome 2 10.8
40 parkinson disease 14, autosomal recessive 10.8
41 ehlers-danlos syndrome, kyphoscoliotic type, 2 10.8
42 duane retraction syndrome 3 with or without deafness 10.8
43 cerebral amyloid angiopathy, cst3-related 10.8
44 mucopolysaccharidosis type 6, slowly progressing 10.8
45 mucopolysaccharidosis type 6, rapidly progressing 10.8
46 mucopolysaccharidosis-plus syndrome 10.6
47 prostate cancer 10.5
48 dermatitis, atopic 10.5
49 dermatitis 10.5
50 colorectal cancer 10.4

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


Sjogren Syndrome

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



Diseases related to Ichthyosis Vulgaris

Symptoms & Phenotypes for Ichthyosis Vulgaris

Symptoms via clinical synopsis from OMIM:

53
Skin:
ichthyosis vulgaris
ichthyosis simplex

Misc:
onset usually after 3 months age
lesions rare in the axillae, antecubital or popliteal fossae
palms and soles often show increased markings
frequent asthma, eczema or hay fever


Clinical features from OMIM:

146700

Human phenotypes related to Ichthyosis Vulgaris:

31
# Description HPO Frequency HPO Source Accession
1 ichthyosis 31 HP:0008064
2 asthma 31 frequent (33%) HP:0002099
3 eczematoid dermatitis 31 frequent (33%) HP:0000976

UMLS symptoms related to Ichthyosis Vulgaris:


trichorrhexis invaginata

Drugs & Therapeutics for Ichthyosis Vulgaris

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris Recruiting NCT03173547 Phase 2 146-9251 cream;Vehicle cream
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 47 :


Cochrane evidence based reviews: ichthyosis vulgaris

Genetic Tests for Ichthyosis Vulgaris

Genetic tests related to Ichthyosis Vulgaris:

# Genetic test Affiliating Genes
1 Ichthyosis Vulgaris 28 FLG

Anatomical Context for Ichthyosis Vulgaris

MalaCards organs/tissues related to Ichthyosis Vulgaris:

38
Skin, Testes

Publications for Ichthyosis Vulgaris

Articles related to Ichthyosis Vulgaris:

(show top 50) (show all 134)
# Title Authors Year
1
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. ( 28730607 )
2017
2
Treatment of ichthyosis vulgaris with a urea-based emulsion: videodermatoscopy and confocal microscopy evaluation. ( 29050444 )
2017
3
Enhanced expression of genes related to xenobiotic metabolism in the skin of patients with atopic dermatitis but not with ichthyosis vulgaris. ( 28899689 )
2017
4
Cutaneous Melanoma in Association With Ichthyosis Vulgaris. ( 28902080 )
2017
5
Surgical management of digital ischemia caused by constriction band formation in a patient with ichthyosis vulgaris. ( 29423165 )
2017
6
Prevalence of filaggrin gene mutations in patients with atopic dermatitis and ichthyosis vulgaris in Kyushu area of Japan and South Korea. ( 28143684 )
2017
7
Targeted next-generation sequencing identifies 9 novel FLG variants in Chinese Han patients with ichthyosis vulgaris. ( 28407221 )
2017
8
Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond. ( 27667308 )
2016
9
Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation. ( 27530091 )
2016
10
[Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris]. ( 27577213 )
2016
11
The Effect of Dietary Change in a Patient With Ichthyosis Vulgaris: A Case Report. ( 26770148 )
2015
12
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis. ( 25819062 )
2015
13
Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris. ( 26396540 )
2015
14
Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis. ( 24920311 )
2014
15
A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris. ( 25115336 )
2014
16
Ichthyosis vulgaris: the filaggrin mutation disease. ( 23301728 )
2013
17
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
18
Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV. ( 23290076 )
2013
19
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
20
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile. ( 23297869 )
2013
21
[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]. ( 23744309 )
2013
22
A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris. ( 23870202 )
2013
23
Topographic and biomechanical evaluation of cornea in patients with ichthyosis vulgaris. ( 22677890 )
2012
24
Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population. ( 22612618 )
2012
25
Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population. ( 22299762 )
2012
26
Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence. ( 23331396 )
2012
27
Atopic dermatitis and ichthyosis vulgaris caused by irritants in a professional windsurfer. ( 21569747 )
2011
28
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. ( 21514438 )
2011
29
Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families. ( 21712002 )
2011
30
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
31
Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. ( 22164253 )
2011
32
Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese. ( 21496060 )
2011
33
Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients. ( 21747615 )
2011
34
FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics. ( 19958351 )
2010
35
Molecular studies of ichthyosis vulgaris in Pakistani families. ( 20943104 )
2010
36
Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris. ( 20222934 )
2010
37
[Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation]. ( 20441703 )
2010
38
Overexpression of constitutively active BMP-receptor-IB in mouse skin causes an ichthyosis-vulgaris-like disease. ( 21079999 )
2010
39
Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis. ( 18841000 )
2009
40
Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. ( 19416262 )
2009
41
Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. ( 19037238 )
2009
42
Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. ( 19183181 )
2009
43
Unrecognized dermatophyte infection in ichthyosis vulgaris. ( 19595270 )
2009
44
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. ( 19239468 )
2009
45
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. ( 18200065 )
2008
46
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
47
Clinical detection of ichthyosis vulgaris in an atopic dermatitis clinic: implications for allergic respiratory disease and prognosis. ( 18455261 )
2008
48
Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. ( 18239616 )
2008
49
Identification of a genetic locus for ichthyosis vulgaris on chromosome 10q22.3-q24.2. ( 18079749 )
2008
50
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. ( 17164798 )
2007

Variations for Ichthyosis Vulgaris

ClinVar genetic disease variations for Ichthyosis Vulgaris:

6
# 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.9887C> A (p.Ser3296Ter) single nucleotide variant Pathogenic rs761212672 GRCh37 Chromosome 1, 152277475: 152277475
7 FLG NM_002016.1(FLG): c.7189C> T (p.Gln2397Ter) single nucleotide variant Pathogenic rs535289422 GRCh37 Chromosome 1, 152280173: 152280173
8 FLG NM_002016.1(FLG): c.5717C> A (p.Ser1906Ter) single nucleotide variant Likely pathogenic rs141784184 GRCh37 Chromosome 1, 152281645: 152281645
9 FLG NM_002016.1(FLG): c.3905C> A (p.Ser1302Ter) single nucleotide variant Pathogenic rs754812742 GRCh37 Chromosome 1, 152283457: 152283457
10 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:

# 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
Show member pathways
11.29 KRT1 KRT14
4 11.12 KRT1 KRT14

GO Terms for Ichthyosis Vulgaris

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 keratinocyte differentiation GO:0030216 9.56 ABCA12 FLG LOR TGM1
2 keratinization GO:0031424 9.55 ABCA12 KRT1 KRT14 LOR TGM1
3 establishment of skin barrier GO:0061436 9.5 ABCA12 FLG KRT1
4 epidermis development GO:0008544 9.37 KRT14 STS
5 peptide cross-linking GO:0018149 9.26 FLG KRT1 LOR TGM1
6 cornification GO:0070268 9.02 FLG KRT1 KRT14 LOR TGM1

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.13 FLG KRT1 LOR
2 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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