MCID: ICH001
MIFTS: 44

Ichthyosis Vulgaris malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Vulgaris

About this section

Aliases & Descriptions for Ichthyosis Vulgaris:

Name: Ichthyosis Vulgaris 49 10 11 45 22 47 12 67 36 24 65
Ichthyosis Simplex 45 22 67
Vi 67 2
Dominant Congenital Ichthyosiform Erythroderma 10
 
Congenital Ichthyosis 65
Fish Scale Disease 45
Common Ichthyosis 45
Ichthyoses 65

Characteristics:

HPO:

61
ichthyosis vulgaris:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 146700
Disease Ontology10 DOID:1702
ICD1027 Q80.0, Q80
MeSH36 D016112
NCIt42 C84778
MedGen34 C0079584
UMLS65 C0079584, C0020757, C0020758

Summaries for Ichthyosis Vulgaris

About this section
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 mucopolysaccharidosis type vi and glycogen storage disease vi, and has symptoms including asthma, eczematoid dermatitis and ichthyosis. An important gene associated with Ichthyosis Vulgaris is FLG (Filaggrin), and among its related pathways is Prostaglandin 2 biosynthesis and metabolism FM. The drug ammonium lactate has been mentioned in the context of this disorder. Affiliated tissues include skin, lung and liver.

NIH Rare Diseases:45 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:67 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:68 Ichthyosis vulgaris (also known as \"Autosomal dominant ichthyosis,\" and \"Ichthyosis simplex\") is a... more...

Description from OMIM:49 146700

Related Diseases for Ichthyosis Vulgaris

About this section

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 167)
idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis type vi12.6
2glycogen storage disease vi12.6
3osteogenesis imperfecta, type vi12.5
4dominant ichthyosis vulgaris12.5
5neuropathy, hereditary sensory and autonomic, type vi12.5
6ehlers-danlos syndrome, type vi12.5
7orofaciodigital syndrome vi12.5
8collagen vi-related myopathy12.4
9neuronopathy, distal hereditary motor, type vi12.4
10collagen vi related muscular dystrophy12.3
11albinism, oculocutaneous, type vi12.3
12collagen type vi-related disorders12.2
13collagen type vi-related autosomal dominant limb-girdle muscular dystrophy12.2
14bleeding diathesis due to glycoprotein vi deficiency12.2
15hereditary motor and sensory neuropathy via11.9
16ichthyosis, acquired11.6
17ehlers-danlos syndrome, kyphoscoliotic form11.6
18short-rib thoracic dysplasia 8 with or without polydactyly11.5
19polydactyly cleft lip palate psychomotor retardation11.5
20glycogen storage disease due to liver glycogen phosphorylase deficiency11.5
21abducens nerve disease11.4
22maturity-onset diabetes of the young 611.3
23cowden syndrome 111.3
24bleeding disorder, platelet-type, 1111.3
25joubert syndrome with orofaciodigital defect11.3
263-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome11.2
27xeroderma pigmentosum, group f11.2
28cerebral amyloid angiopathy11.2
29megdel syndrome11.2
30mucopolysaccharidosis type 6, slowly progressing11.2
31mucopolysaccharidosis type 6, rapidly progressing11.2
32endometriosis10.9
33ichthyosis hystrix gravior10.6
34refsum disease10.5
35ichthyosis, x-linked10.5
36pityriasis rotunda10.5
37cervicitis10.3
38diabetic polyneuropathy10.3ABCA12, TGM1
39spastic ectropion10.2ABCA12, TGM1
40malaria10.2
41lung cancer10.2
42leukemia10.2
43ulcerative colitis10.2
44colitis10.2
45sarcoma10.2
46plasmodium falciparum malaria10.2
47melanoma10.2
48myofascial pain syndrome10.2
49pancreatitis10.2
50myeloid leukemia10.2

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



Diseases related to ichthyosis vulgaris

Symptoms for Ichthyosis Vulgaris

About this section

Symptoms by clinical synopsis from OMIM:

146700

Clinical features from OMIM:

146700

HPO human phenotypes related to Ichthyosis Vulgaris:

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

Drugs & Therapeutics for Ichthyosis Vulgaris

About this section

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

Search NIH Clinical Center for Ichthyosis Vulgaris

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: ichthyosis vulgaris

Genetic Tests for Ichthyosis Vulgaris

About this section

Genetic tests related to Ichthyosis Vulgaris:

id Genetic test Affiliating Genes
1 Ichthyosis Vulgaris22 FLG

Anatomical Context for Ichthyosis Vulgaris

About this section

MalaCards organs/tissues related to Ichthyosis Vulgaris:

33
Skin, Lung, Liver, Kidney, Myeloid, Endothelial, Heart

Animal Models for Ichthyosis Vulgaris or affiliated genes

About this section

Publications for Ichthyosis Vulgaris

About this section

Articles related to Ichthyosis Vulgaris:

(show top 50)    (show all 122)
idTitleAuthorsYear
1
Cranial mononeuritis multiplex as the initial manifestation of systemic lupus erythematosus: A diagnostic challenge. (26971057)
2016
2
HNF-4I+ regulates expression of human ornithin carbamoyltransferase through interaction with two positive cis-acting regulatory elements located in the proximal promoter. (25056436)
2014
3
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis. (25348630)
2014
4
Maternal genetic heritage of southeastern europe reveals a new croatian isolate and a novel, local sub-branching in the x2 haplogroup. (24621318)
2014
5
Aberrant phenotype in Iranian patients with acute myeloid leukemia. (24409408)
2014
6
Natural AChE Inhibitors from Plants and their Contribution to Alzheimer's Disease Therapy. (24381530)
2013
7
Mantle Cell Lymphoma in Cyclin D1 Transgenic Mice with Bim-deficient B-cells. (24352880)
2013
8
NSAID-induced urticaria/angioedema does not evolve into chronic urticaria: a 12-year follow-up study. (24372026)
2013
9
Clinimetric properties of broncho-alveolar lavage inflammatory markers in cystic fibrosis. (23845715)
2013
10
Cow's milk elimination: a novel dietary approach to treat eosinophilic esophagitis. (22820121)
2012
11
Active chromatin marks are retained on X chromosomes lacking gene or repeat silencing despite XIST/Xist expression in somatic cell hybrids. (20520737)
2010
12
Neonatal kerion Celsi: report of three cases. (20653852)
2010
13
The assessment of methylated BASP1 and SRD5A2 levels in the detection of early hepatocellular carcinoma. (19956849)
2010
14
Phosphorylated nucleolin interacts with translationally controlled tumor protein during mitosis and with Oct4 during interphase in ES cells. (21048921)
2010
15
Trichotillomania: an important psychocutaneous disorder. (21049760)
2010
16
Correlation of genomic and expression alterations of AS3 with esophageal squamous cell carcinoma. (18499069)
2008
17
Macrophages contribute to the cellular uptake of von Willebrand factor and factor VIII in vivo. (18559674)
2008
18
Long-term hypoxia modulates expression of key genes regulating adipose function in the late-gestation ovine fetus. (18287225)
2008
19
Cooperative activity of cdk8 and GCN5L within Mediator directs tandem phosphoacetylation of histone H3. (18418385)
2008
20
Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21. (18674646)
2008
21
Multiple transmissions of tick-borne encephalitis virus between Japan and Russia. (17660689)
2007
22
Heparin induces mobilization of osteoprotegerin into the circulation. (17598007)
2007
23
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. (16961972)
2006
24
Porphyria cutanea tarda in a patient with HIV-infection. (15861867)
2005
25
Mostly separate distributions of CLAC- versus Abeta40- or thioflavin S-reactivities in senile plaques reveal two distinct subpopulations of beta-amyloid deposits. (15215182)
2004
26
Glutathione pathway genes and lung cancer risk in young and old populations. (15192016)
2004
27
The evidence base for shaken baby syndrome: meaning of signature must be made explicit. (15388623)
2004
28
Mannose-binding lectin (MBL) mutants are susceptible to matrix metalloproteinase proteolysis: potential role in human MBL deficiency. (11891230)
2002
29
Transitional cell carcinoma of the endometrium associated with a benign ovarian Brenner tumor: a case report. (11230712)
2001
30
An Australasian diagnostic service for the neuronal ceroid lipofuscinoses. (11588997)
2001
31
Targeting of the mammalian nucleoporin p62 to the nuclear envelope in the yeast Saccharomyces cerevisiae and HeLa cells. (10546899)
1999
32
Dopamine- and serotonin-receptors in schizophrenia: results of imaging-studies and implications for pharmacotherapy in schizophrenia. (10654113)
1999
33
Cell cycle-independent induction of apoptosis by the anti-tumor drug Flavopiridol in endothelial cells. (9639406)
1998
34
Liver and renal and platelet counts after delivery in patients with severe pre-eclampsia. (9930259)
1998
35
Inter- and intraspecies polymorphisms in the cholecystokinin-B/gastrin receptor alter drug efficacy. (9380756)
1997
36
Erythema multiforme major in a female with acute systemic meningococcal disease. (9394992)
1997
37
The endothelin-parathyroid hormone-related protein vasoactive peptide system in human endometrium: modulation by transforming growth factor-beta. (8982748)
1996
38
Low dialysate calcium in continuous ambulatory peritoneal dialysis: a randomized controlled multicenter trial. The Peritoneal Dialysis Multicenter Study Group. (7872324)
1995
39
Tuberculous pericarditis: importance of adenosine deaminase activity in pericardial fluid. (8312671)
1993
40
Transforming growth factor-beta 1 stimulates macrophage urokinase expression and release of matrix-bound basic fibroblast growth factor. (7684044)
1993
41
Nucleotide sequence of a cDNA encoding human tumor necrosis factor beta from B lymphoblastoid cell RPMI 1788. (1353024)
1992
42
Reversal of left ventricular hypertrophy in hypertensive patients. A metaanalysis of 109 treatment studies. (1532319)
1992
43
Deletion in the prion protein gene in a demented patient. (1363802)
1992
44
Mycobacterium marinum infection from shucking oysters. (1675357)
1991
45
Gastric paraganglioma: an immunohistological and ultrastructural case study. (2390762)
1990
46
Diagnosis of vasculogenic impotence. Comparing investigations by Doppler sonography and angiography. (3041769)
1988
47
Evaluation of 99mtechnetium-dimercapto-succinic acid renal scans in experimental acute pyelonephritis in piglets. (2846898)
1988
48
Infantile hypertrophic pyloric stenosis and cow's milk intolerance. (3628055)
1987
49
Pancreatic-polypeptide-producing apudoma of the liver. (7194135)
1980
50
Pemphigus erythematosus and heroin addiction. (659032)
1978

Variations for Ichthyosis Vulgaris

About this section

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)single nucleotide variantPathogenic, 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)single nucleotide variantPathogenic, risk factorrs121909626GRCh37Chr 1, 152279701: 152279701
4FLGFLG, 1-BP DEL, 3321AdeletionPathogenic, risk factor
5FLGNM_002016.1(FLG): c.2143C> T (p.Gln715Ter)single nucleotide variantPathogenicrs797045090GRCh37Chr 1, 152285219: 152285219

Expression for genes affiliated with Ichthyosis Vulgaris

About this section
Search GEO for disease gene expression data for Ichthyosis Vulgaris.

Pathways for genes affiliated with Ichthyosis Vulgaris

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.5ALOX12B, ALOXE3

GO Terms for genes affiliated with Ichthyosis Vulgaris

About this section

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

idNameGO IDScoreTop Affiliating Genes
1linoleic acid metabolic processGO:00436519.9ALOX12B, ALOXE3
2hepoxilin biosynthetic processGO:00511229.9ALOX12B, ALOXE3
3lipoxygenase pathwayGO:00193729.9ALOX12B, ALOXE3
4establishment of skin barrierGO:00614369.6ABCA12, FLG
5keratinocyte differentiationGO:00302169.5ABCA12, TGM1
6sphingolipid metabolic processGO:00066659.2ALOX12B, ALOXE3

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.7FLG, LOR

Sources for Ichthyosis Vulgaris

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet