MCID: ICH002
MIFTS: 52

Ichthyosis Bullosa of Siemens malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Ichthyosis Bullosa of Siemens

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Ichthyosis Bullosa of Siemens, Aliases & Descriptions:

Name: Ichthyosis Bullosa of Siemens 45 10 41 20 47 22
Superficial Epidermolytic Ichthyosis 41 47
Ichthyosis, Bullous Type 45 41
Sei 41 47
 
Bullous Type of Ichthyosis 41
Irritable Bowel Syndrome 60
Ibs 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
ichthyosis bullosa of siemens:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 146800
Orphanet47 455
MESH via Orphanet34 D053560
ICD10 via Orphanet26 Q80.8
UMLS via Orphanet61 C0432306

Summaries for Ichthyosis Bullosa of Siemens

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MalaCards based summary: Ichthyosis Bullosa of Siemens, also known as superficial epidermolytic ichthyosis, is related to congenital ichthyosiform erythroderma and epidermolytic hyperkeratosis, and has symptoms including thin skin, edema and palmoplantar keratoderma. An important gene associated with Ichthyosis Bullosa of Siemens is KRT2 (keratin 2), and among its related pathways is Cytoskeleton remodeling Keratin filaments. The drugs psyllium and psyllium hydrocolloid and the compounds isotretinoin and isoleucine have been mentioned in the context of this disorder. Affiliated tissues include skin and testes, and related mouse phenotypes are pigmentation and integument.

Description from OMIM:45 146800

Related Diseases for Ichthyosis Bullosa of Siemens

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Diseases related to Ichthyosis Bullosa of Siemens via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 194)
idRelated DiseaseScoreTop Affiliating Genes
1congenital ichthyosiform erythroderma30.8KRT1, KRT10
2epidermolytic hyperkeratosis30.8KRT1, KRT10
3adenocarcinoma29.8KRT1, KRT10, CSTA
4glycogen storage disease10.8
5pseudohypoparathyroidism, type ib10.7
6exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like10.7
7pseudohypoparathyroidism10.7
8irritable bowel syndrome10.6
9cervicitis10.6
10congenital disorder of glycosylation, type ib10.4
11growth hormone deficiency, isolated, type ib10.4
12neutropenia10.4
13glycogen storage disease ib10.4
14lung cancer10.4
15endotheliitis10.4
16constipation10.3
17achondrogenesis ib10.3
18diarrhea10.3
19cervical squamous cell carcinoma10.3
20colitis10.3
21prostatitis10.3
22prostate cancer10.2
23amelogenesis imperfecta, type ib10.2
24albinism, oculocutaneous, type ib10.2
25usher syndrome10.2
26pancreatitis10.2
27purpura10.2
28epidermolytic acanthoma10.2KRT1
29breast cancer10.2
30cutis laxa, autosomal recessive, type ib10.2
31progressive familial heart block, type ib10.2
32leukemia10.2
33thrombocytopenia10.2
34ulcerative colitis10.2
35melanoma10.2
36lymphedema, hereditary, ib10.2
37autoimmune lymphoproliferative syndrome10.2
38renal cell carcinoma10.2
39neuropathy, hereditary sensory, type ib10.2
40dyserythropoietic anemia, congenital, type ib10.2
41hyperlipoproteinemia, type ib10.2
42von willebrand's disease10.2
43achondrogenesis10.2
44cervical adenocarcinoma10.2
45sarcoma10.2
46isolated focal cortical dysplasia type ib10.2
47maple syrup urine disease, type ii10.1
48bernard-soulier syndrome, type c10.1
49mycosis fungoides10.1
50pulmonary tuberculosis10.1

Graphical network of the top 20 diseases related to Ichthyosis Bullosa of Siemens:



Diseases related to ichthyosis bullosa of siemens

Symptoms for Ichthyosis Bullosa of Siemens

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Symptoms by clinical synopsis from OMIM:

146800

Clinical features from OMIM:

146800

Symptoms:

 47 (show all 8)
  • palmoplantar hyperkeratosis/keratoderma
  • ichthyosis/ichthyosiform dermatitis
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • positive nikolski's sign/achantolysis
  • thin skin
  • cutaneous edema
  • autosomal dominant inheritance
  • erythema/erythematous lesions/erythroderma/polymorphous erythema

HPO human phenotypes related to Ichthyosis Bullosa of Siemens:

(show all 8)
id Description Frequency HPO Source Accession
1 thin skin hallmark (90%) HP:0000963
2 edema hallmark (90%) HP:0000969
3 palmoplantar keratoderma hallmark (90%) HP:0000982
4 ichthyosis hallmark (90%) HP:0008064
5 abnormal blistering of the skin hallmark (90%) HP:0008066
6 acantholysis hallmark (90%) HP:0100792
7 autosomal dominant inheritance HP:0000006
8 congenital bullous ichthyosiform erythroderma HP:0007475

Drugs & Therapeutics for Ichthyosis Bullosa of Siemens

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Genetic Tests for Ichthyosis Bullosa of Siemens

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Genetic tests related to Ichthyosis Bullosa of Siemens:

id Genetic test Affiliating Genes
1 Ichthyosis Bullosa of Siemens20 22 KRT2

Anatomical Context for Ichthyosis Bullosa of Siemens

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MalaCards organs/tissues related to Ichthyosis Bullosa of Siemens:

31
Skin, Testes

Animal Models for Ichthyosis Bullosa of Siemens or affiliated genes

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MGI Mouse Phenotypes related to Ichthyosis Bullosa of Siemens:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1KRT1, KRT2
2MP:00107718.3KRT1, KRT10, KRT2

Publications for Ichthyosis Bullosa of Siemens

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Articles related to Ichthyosis Bullosa of Siemens:

(show all 29)
idTitleAuthorsYear
1
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1. (23623204)
2013
2
Ichthyosis bullosa of Siemens. (23091584)
2012
3
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. (17970808)
2008
4
A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens. (17408392)
2007
5
Ichthyosis bullosa of Siemens: response to topical tazarotene. (16481710)
2006
6
Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. (15949009)
2005
7
Ichthyosis bullosa of Siemens. (12657765)
2003
8
Sporadic case of ichthyosis bullosa of Siemens. (11982577)
2002
9
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. (11531804)
2001
10
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. (11167982)
2000
11
A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. (10620137)
2000
12
Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. (10688369)
2000
13
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature. (10233323)
1999
14
Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene. (10564334)
1999
15
Ichthyosis bullosa of Siemens: a topical therapy option. (10052422)
1999
16
A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. (10084318)
1999
17
A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens. (9833038)
1998
18
Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. (9804344)
1998
19
A novel threonine-to-proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens. (9204966)
1997
20
A new keratin 2e mutation in ichthyosis bullosa of Siemens. (9036938)
1997
21
Ichthyosis bullosa of Siemens: report of a sporadic case. (7608386)
1995
22
Ichthyosis bullosa of Siemens -- a disease involving keratin 2e. (7521371)
1994
23
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. (7524919)
1994
24
Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. (7521372)
1994
25
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. (8077693)
1994
26
Ichthyosis bullosa of Siemens responds well to low-dosage oral retinoids. (1836350)
1991
27
Ichthyosis bullosa of Siemens: further delineation of the phenotype. (2138447)
1990
28
Ichthyosis bullosa of Siemens and bullous ichthyosiform erythroderma--variants of the same disease? (2178822)
1990
29
Ichthyosis bullosa of Siemens: a unique type of epidermolytic hyperkeratosis. (3522665)
1986

Variations for Ichthyosis Bullosa of Siemens

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UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis Bullosa of Siemens:

62 (show all 15)
id Symbol AA change Variation ID SNP ID
1KRT2p.Gln181ProVAR_003865
2KRT2p.Glu487AspVAR_003866rs61726450
3KRT2p.Glu487LysVAR_003867rs61726449
4KRT2p.Asn186TyrVAR_009185rs61726454
5KRT2p.Glu476LysVAR_009186rs56829062
6KRT2p.Thr479ProVAR_009187rs61726453
7KRT2p.Ile182AsnVAR_010514rs61622714
8KRT2p.Asn186AspVAR_010515
9KRT2p.Leu484ProVAR_010516rs61726451
10KRT2p.Asn186LysVAR_017829rs61726457
11KRT2p.Glu465AspVAR_031082
12KRT2p.Glu465LysVAR_031083
13KRT2p.Glu476ValVAR_031084rs60537449
14KRT2p.Ile477AsnVAR_031085
15KRT2p.Glu488LysVAR_031086rs61726452

Clinvar genetic disease variations for Ichthyosis Bullosa of Siemens:

6
id Gene Variation Type Significance SNP ID Assembly Location
1KRT2NM_000423.2(KRT2): c.1461G> T (p.Glu487Asp)single nucleotide variantPathogenicrs137852628GRCh37Chr 12, 53040532: 53040532
2KRT2NM_000423.2(KRT2): c.1459G> A (p.Glu487Lys)single nucleotide variantPathogenicrs137852629GRCh37Chr 12, 53040534: 53040534
3KRT2NM_000423.2(KRT2): c.542A> C (p.Gln181Pro)single nucleotide variantPathogenicrs57510142GRCh37Chr 12, 53045385: 53045385
4KRT2NM_000423.2(KRT2): c.1435A> C (p.Thr479Pro)single nucleotide variantPathogenicrs137852630GRCh37Chr 12, 53040558: 53040558
5KRT2NM_000423.2(KRT2): c.556A> T (p.Asn186Tyr)single nucleotide variantPathogenicrs137852631GRCh37Chr 12, 53045371: 53045371
6KRT2NM_000423.2(KRT2): c.1426G> A (p.Glu476Lys)single nucleotide variantPathogenicrs56829062GRCh37Chr 12, 53040567: 53040567
7KRT2NM_000423.2(KRT2): c.556A> G (p.Asn186Asp)single nucleotide variantPathogenicrs137852631GRCh37Chr 12, 53045371: 53045371
8KRT2NM_000423.2(KRT2): c.558C> A (p.Asn186Lys)single nucleotide variantPathogenicrs137852632GRCh37Chr 12, 53045369: 53045369

Expression for genes affiliated with Ichthyosis Bullosa of Siemens

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Search GEO for disease gene expression data for Ichthyosis Bullosa of Siemens.

Pathways for genes affiliated with Ichthyosis Bullosa of Siemens

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Pathways related to Ichthyosis Bullosa of Siemens according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1KRT1, KRT2

Compounds for genes affiliated with Ichthyosis Bullosa of Siemens

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Sources:
43Novoseek, 12DrugBank, 24HMDB
See all sources

Compounds related to Ichthyosis Bullosa of Siemens according to GeneCards Suite gene sharing:

(show all 12)
idCompoundScoreTop Affiliating Genes
1isotretinoin43 1210.4KRT10, KRT1
2isoleucine439.3KRT1, KRT10
3hematoxylin439.3KRT1, KRT10
4kininogen439.2KRT1, CSTA
5bromodeoxyuridine439.2KRT1, KRT10
6proline439.1KRT1, KRT10
712-o-tetradecanoylphorbol 13-acetate439.0KRT1, CSTA
8tazarotene43 129.9KRT1, KRT10, KRT2
9retinoid438.8KRT1, KRT10, KRT2
10paraffin438.8KRT1, KRT10
11retinoic acid43 249.7KRT2, KRT10, KRT1
12tyrosine438.4CSTA, KRT10, KRT1

GO Terms for genes affiliated with Ichthyosis Bullosa of Siemens

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Cellular components related to Ichthyosis Bullosa of Siemens according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.3KRT10, KRT2
2keratin filamentGO:00450958.6KRT1, KRT10, KRT2
3extracellular vesicular exosomeGO:00700628.6KRT1, KRT10, KRT2
4extracellular spaceGO:00056158.3KRT2, KRT10, KRT1

Biological processes related to Ichthyosis Bullosa of Siemens according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:00302169.3KRT10, CSTA

Molecular functions related to Ichthyosis Bullosa of Siemens according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.0KRT1, CSTA

Products for genes affiliated with Ichthyosis Bullosa of Siemens

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ichthyosis Bullosa of Siemens

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet