MCID: ICH001
MIFTS: 45

Ichthyosis Vulgaris

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Vulgaris

MalaCards integrated aliases for Ichthyosis Vulgaris:

Name: Ichthyosis Vulgaris 57 12 76 53 75 37 29 13 55 6 44 15 40 73
Ichthyosis Simplex 57 53 75
Vi 75 3
Dominant Congenital Ichthyosiform Erythroderma 12
Congenital Ichthyosis 73
Fish Scale Disease 53
Common Ichthyosis 53
Ichthyoses 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ichthyosis vulgaris:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 146700
Disease Ontology 12 DOID:1702
ICD10 33 Q80.0
MeSH 44 D016112
NCIt 50 C84778
MedGen 42 C0079584
KEGG 37 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 keratosis and lichen planus, and has symptoms including trichorrhexis invaginata 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, and related phenotypes are eczematoid dermatitis and asthma

UniProtKB/Swiss-Prot : 75 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 : 53 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.

Wikipedia : 76 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 134)
# Related Disease Score Top Affiliating Genes
1 keratosis 29.5 FLG KRT1 KRT10
2 lichen planus 29.2 FLG KRT10
3 netherton syndrome 29.2 FLG TGM1
4 ichthyosis, x-linked 28.7 FLG KRT10 STS TGM1
5 papilloma 28.4 FLG KRT1 KRT10 KRT14
6 psoriasis 27.4 FLG KRT10 KRT14 LOR TGM1
7 ichthyosis 27.4 ABCA12 FLG KRT1 KRT10 LOR STS
8 congenital ichthyosiform erythroderma 25.8 ABCA12 FLG KRT1 KRT10 LOR STS
9 skin disease 25.6 ABCA12 FLG KRT1 KRT10 KRT14 LOR
10 mucopolysaccharidosis type vi 12.5
11 glycogen storage disease vi 12.5
12 neuropathy, hereditary sensory and autonomic, type vi 12.3
13 osteogenesis imperfecta, type vi 12.3
14 orofaciodigital syndrome vi 12.3
15 collagen vi-related myopathy 12.3
16 dominant ichthyosis vulgaris 12.3
17 collagen vi related muscular dystrophy 12.2
18 bleeding disorder, platelet-type, 11 12.0
19 albinism, oculocutaneous, type vi 11.9
20 collagen type vi-related disorders 11.9
21 ehlers-danlos syndrome, kyphoscoliotic type, 1 11.7
22 neuropathy, hereditary motor and sensory, type via 11.6
23 abducens nerve disease 11.6
24 plod1-related kyphoscoliotic ehlers-danlos syndrome 11.4
25 spinal muscular atrophy, distal, autosomal recessive, 1 11.3
26 factor ix and factor xi, combined deficiency of 11.2
27 bethlem myopathy 1 11.2
28 ullrich congenital muscular dystrophy 1 11.1
29 short-rib thoracic dysplasia 8 with or without polydactyly 11.1
30 polydactyly cleft lip palate psychomotor retardation 11.1
31 xeroderma pigmentosum, complementation group f 11.1
32 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 11.1
33 refsum disease, classic 11.1
34 pityriasis rotunda 11.1
35 glycogen storage disease, type ixd 11.0
36 glycogen storage disease viii 11.0
37 cerebral amyloid angiopathy, cst3-related 10.9
38 cowden syndrome 1 10.9
39 duane retraction syndrome 1 10.8
40 moebius syndrome 10.8
41 brown-vialetto-van laere syndrome 1 10.8
42 duane retraction syndrome 2 10.8
43 osteogenesis imperfecta, type v 10.8
44 parkinson disease 14, autosomal recessive 10.8
45 ehlers-danlos syndrome, kyphoscoliotic type, 2 10.8
46 duane retraction syndrome 3 with or without deafness 10.8
47 mucopolysaccharidosis type 6, slowly progressing 10.8
48 mucopolysaccharidosis type 6, rapidly progressing 10.8
49 dermatitis, atopic, 2 10.6 FLG LOR
50 prostate cancer 10.5

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 eczematoid dermatitis 32 frequent (33%) HP:0000976
2 asthma 32 frequent (33%) HP:0002099
3 ichthyosis 32 HP:0008064

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 Not Applicable
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 Not Applicable

Search NIH Clinical Center for Ichthyosis Vulgaris

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: ichthyosis vulgaris

Genetic Tests for Ichthyosis Vulgaris

Genetic tests related to Ichthyosis Vulgaris:

# Genetic test Affiliating Genes
1 Ichthyosis Vulgaris 29 FLG

Anatomical Context for Ichthyosis Vulgaris

MalaCards organs/tissues related to Ichthyosis Vulgaris:

41
Skin, Testes

Publications for Ichthyosis Vulgaris

Articles related to Ichthyosis Vulgaris:

(show top 50) (show all 138)
# Title Authors Year
1
Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study. ( 29675643 )
2018
2
A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy. ( 29915773 )
2018
3
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. ( 28730607 )
2017
4
Cutaneous Melanoma in Association With Ichthyosis Vulgaris. ( 28902080 )
2017
5
Enhanced expression of genes related to xenobiotic metabolism in the skin of patients with atopic dermatitis but not with ichthyosis vulgaris. ( 28899689 )
2017
6
Surgical management of digital ischemia caused by constriction band formation in a patient with ichthyosis vulgaris. ( 29423165 )
2017
7
Prevalence of filaggrin gene mutations in patients with atopic dermatitis and ichthyosis vulgaris in Kyushu area of Japan and South Korea. ( 28143684 )
2017
8
Targeted next-generation sequencing identifies 9 novel FLG variants in Chinese Han patients with ichthyosis vulgaris. ( 28407221 )
2017
9
Treatment of ichthyosis vulgaris with a urea-based emulsion: videodermatoscopy and confocal microscopy evaluation. ( 29050444 )
2017
10
Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation. ( 27530091 )
2016
11
Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond. ( 27667308 )
2016
12
[Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris]. ( 27577213 )
2016
13
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis. ( 25819062 )
2015
14
Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris. ( 26396540 )
2015
15
The Effect of Dietary Change in a Patient With Ichthyosis Vulgaris: A Case Report. ( 26770148 )
2015
16
Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis. ( 24920311 )
2014
17
A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris. ( 25115336 )
2014
18
[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]. ( 23744309 )
2013
19
A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris. ( 23870202 )
2013
20
Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV. ( 23290076 )
2013
21
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
22
Ichthyosis vulgaris: the filaggrin mutation disease. ( 23301728 )
2013
23
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile. ( 23297869 )
2013
24
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
25
Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence. ( 23331396 )
2012
26
Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population. ( 22612618 )
2012
27
Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population. ( 22299762 )
2012
28
Topographic and biomechanical evaluation of cornea in patients with ichthyosis vulgaris. ( 22677890 )
2012
29
Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. ( 22164253 )
2011
30
Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families. ( 21712002 )
2011
31
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
32
Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese. ( 21496060 )
2011
33
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. ( 21514438 )
2011
34
Atopic dermatitis and ichthyosis vulgaris caused by irritants in a professional windsurfer. ( 21569747 )
2011
35
Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients. ( 21747615 )
2011
36
Overexpression of constitutively active BMP-receptor-IB in mouse skin causes an ichthyosis-vulgaris-like disease. ( 21079999 )
2010
37
[Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation]. ( 20441703 )
2010
38
FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics. ( 19958351 )
2010
39
Molecular studies of ichthyosis vulgaris in Pakistani families. ( 20943104 )
2010
40
Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris. ( 20222934 )
2010
41
Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. ( 19183181 )
2009
42
Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis. ( 18841000 )
2009
43
Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. ( 19416262 )
2009
44
Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. ( 19037238 )
2009
45
Unrecognized dermatophyte infection in ichthyosis vulgaris. ( 19595270 )
2009
46
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. ( 19239468 )
2009
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
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. ( 18200065 )
2008

Variations for Ichthyosis Vulgaris

ClinVar genetic disease variations for Ichthyosis Vulgaris:

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLG NM_002016.1(FLG): c.1501C> T (p.Arg501Ter) single nucleotide variant Pathogenic rs61816761 GRCh37 Chromosome 1, 152285861: 152285861
2 FLG NM_002016.1(FLG): c.1501C> T (p.Arg501Ter) single nucleotide variant Pathogenic rs61816761 GRCh38 Chromosome 1, 152313385: 152313385
3 FLG NM_002016.1(FLG): c.2282_2285delCAGT (p.Ser761Cysfs) deletion risk factor rs558269137 GRCh38 Chromosome 1, 152312601: 152312604
4 FLG NM_002016.1(FLG): c.2282_2285delCAGT (p.Ser761Cysfs) deletion risk factor rs558269137 GRCh37 Chromosome 1, 152285077: 152285080
5 FLG NM_002016.1(FLG): c.7661C> G (p.Ser2554Ter) single nucleotide variant Pathogenic,risk factor rs121909626 GRCh37 Chromosome 1, 152279701: 152279701
6 FLG NM_002016.1(FLG): c.7661C> G (p.Ser2554Ter) single nucleotide variant Pathogenic,risk factor rs121909626 GRCh38 Chromosome 1, 152307225: 152307225
7 FLG FLG, 1-BP DEL, 3321A deletion Pathogenic,risk factor
8 FLG NM_002016.1(FLG): c.2143C> T (p.Gln715Ter) single nucleotide variant Pathogenic rs797045090 GRCh37 Chromosome 1, 152285219: 152285219
9 FLG NM_002016.1(FLG): c.2143C> T (p.Gln715Ter) single nucleotide variant Pathogenic rs797045090 GRCh38 Chromosome 1, 152312743: 152312743
10 FLG NM_002016.1(FLG): c.9887C> A (p.Ser3296Ter) single nucleotide variant Pathogenic rs761212672 GRCh37 Chromosome 1, 152277475: 152277475
11 FLG NM_002016.1(FLG): c.9887C> A (p.Ser3296Ter) single nucleotide variant Pathogenic rs761212672 GRCh38 Chromosome 1, 152304999: 152304999
12 FLG NM_002016.1(FLG): c.7189C> T (p.Gln2397Ter) single nucleotide variant Pathogenic rs535289422 GRCh37 Chromosome 1, 152280173: 152280173
13 FLG NM_002016.1(FLG): c.7189C> T (p.Gln2397Ter) single nucleotide variant Pathogenic rs535289422 GRCh38 Chromosome 1, 152307697: 152307697
14 FLG NM_002016.1(FLG): c.5717C> A (p.Ser1906Ter) single nucleotide variant Likely pathogenic rs141784184 GRCh37 Chromosome 1, 152281645: 152281645
15 FLG NM_002016.1(FLG): c.5717C> A (p.Ser1906Ter) single nucleotide variant Likely pathogenic rs141784184 GRCh38 Chromosome 1, 152309169: 152309169
16 FLG NM_002016.1(FLG): c.3905C> A (p.Ser1302Ter) single nucleotide variant Pathogenic rs754812742 GRCh37 Chromosome 1, 152283457: 152283457
17 FLG NM_002016.1(FLG): c.3905C> A (p.Ser1302Ter) single nucleotide variant Pathogenic rs754812742 GRCh38 Chromosome 1, 152310981: 152310981
18 FLG NM_002016.1(FLG): c.4279G> A (p.Ala1427Thr) single nucleotide variant Uncertain significance rs148844389 GRCh37 Chromosome 1, 152283083: 152283083
19 FLG NM_002016.1(FLG): c.4279G> A (p.Ala1427Thr) single nucleotide variant Uncertain significance rs148844389 GRCh38 Chromosome 1, 152310607: 152310607
20 FLG NM_002016.1(FLG): c.899_903delACAGG (p.Asp300Glyfs) deletion Likely pathogenic rs1060499587 GRCh37 Chromosome 1, 152286459: 152286463
21 FLG NM_002016.1(FLG): c.899_903delACAGG (p.Asp300Glyfs) deletion Likely pathogenic rs1060499587 GRCh38 Chromosome 1, 152313983: 152313987

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
12.64 FLG KRT1 KRT10 KRT14 LOR TGM1
2
Show member pathways
11.56 FLG KRT1 KRT10 KRT14 LOR TGM1

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 cytosol GO:0005829 9.7 ABCA12 FLG KRT1 KRT10 KRT14 LOR
2 intermediate filament GO:0005882 9.26 FLG KRT1 KRT10 KRT14
3 cornified envelope GO:0001533 9.02 FLG KRT1 KRT10 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 9.65 ABCA12 FLG KRT10 LOR TGM1
2 keratinization GO:0031424 9.63 ABCA12 KRT1 KRT10 KRT14 LOR TGM1
3 epidermis development GO:0008544 9.5 FLG KRT14 STS
4 establishment of skin barrier GO:0061436 9.37 ABCA12 FLG
5 peptide cross-linking GO:0018149 9.35 FLG KRT1 KRT10 LOR TGM1
6 cornification GO:0070268 9.1 FLG KRT1 KRT10 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 9.26 FLG KRT1 KRT10 LOR
2 structural constituent of epidermis GO:0030280 8.92 FLG KRT1 KRT10 LOR

Sources for Ichthyosis Vulgaris

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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