MCID: ICH002
MIFTS: 44

Ichthyosis Bullosa of Siemens malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Bullosa of Siemens

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ichthyosis Bullosa of Siemens:

Name: Ichthyosis Bullosa of Siemens 50 46 23 52 68 25 12 37
Ibs 46 68
Superficial Epidermolytic Ichthyosis 52
Bullous Type of Ichthyosis 46
 
Ichthyosis, Bullous Type 46
Irritable Bowel Syndrome 66
Ichthyosis Bullous Type 68
Sei 52

Characteristics:

Orphanet epidemiological data:

52
ichthyosis bullosa of siemens:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
ichthyosis bullosa of siemens:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 146800
Orphanet52 ORPHA455
ICD10 via Orphanet29 Q80.8
MESH via Orphanet38 D053560
UMLS via Orphanet67 C0432306
MeSH37 D053560

Summaries for Ichthyosis Bullosa of Siemens

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UniProtKB/Swiss-Prot:68 Ichthyosis bullosa of Siemens: A rare autosomal dominant skin disorder displaying a type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth. Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification is limited to the flexural folds of the major joints.

MalaCards based summary: Ichthyosis Bullosa of Siemens, also known as ibs, is related to exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like and congenital disorder of glycosylation, type ib, 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 Neurofilaments. The drugs propantheline and propantheline bromide have been mentioned in the context of this disorder. Affiliated tissues include skin and testes.

Description from OMIM:50 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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like12.5
2congenital disorder of glycosylation, type ib12.3
3pseudohypoparathyroidism, type ib12.2
4growth hormone deficiency, isolated, type ib12.1
5achondrogenesis ib12.1
6glycogen storage disease ib12.1
7albinism, oculocutaneous, type ib12.1
8cutis laxa, autosomal recessive, type ib12.0
9progressive familial heart block, type ib11.9
10amelogenesis imperfecta, type ib11.9
11dyserythropoietic anemia, congenital, type ib11.9
12hyperlipoproteinemia, type ib11.9
13lymphedema, hereditary, ib11.8
14neuropathy, hereditary sensory, type ib11.8
15isolated growth hormone deficiency, type ib, ghrhr-related11.8
16isolated focal cortical dysplasia type ib11.8
17isolated growth hormone deficiency, type ib, gh1-related11.8
18irritable bowel syndrome11.5
19maple syrup urine disease, type ii11.5
20autoimmune lymphoproliferative syndrome11.4
21bernard-soulier syndrome, type c11.4
22charcot-marie-tooth disease, type 1b11.0
23myasthenic syndrome, congenital, 1010.9
24usher syndrome, type 1b10.9
25efemp2-related cutis laxa10.9
26rickets due to defect in vitamin d 25-hydroxylation10.8
27congenital myasthenic syndrome10.8
28epidermolytic ichthyosis10.4
29epidermolytic hyperkeratosis10.3
30congenital ichthyosiform erythroderma10.3
31hypertrichosis10.0
32aniridia10.0
33mastitis10.0
34ebola hemorrhagic fever9.9KRT1, KRT10
35ichthyosis histrix, curth-macklin type9.9KRT1, KRT10
36bradyopsia9.9KRT1, KRT10
37malignant cystic nephroma9.9KRT1, KRT10
38hemoglobin d disease9.9KRT1, KRT10
39freemartinism9.8KRT1, KRT10
40colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas9.8KRT1, KRT10
41familial retinoblastoma9.7KRT1, KRT10
42small non-cleaved cell lymphoma9.7KRT1, KRT10
43breast fibroadenoma9.6KRT1, KRT10
44epidermolysis bullosa simplex, dowling-meara type9.5KRT1, KRT10, KRT2
45ichthyosis, cyclic, with epidermolytic hyperkeratosis9.5KRT1, KRT10, KRT2
46steroid inherited metabolic disorder9.5KRT1, KRT10, KRT2
47kidney hemangiopericytoma9.4KRT1, KRT10
48brachydactyly type a38.7CSTA, KRT1, KRT10, KRT2
49telangiectasia, hereditary hemorrhagic, type 28.7CSTA, KRT1, KRT10, KRT2

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

HPO human phenotypes related to Ichthyosis Bullosa of Siemens:

(show all 6)
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 abnormal blistering of the skin hallmark (90%) HP:0008066
5 acantholysis hallmark (90%) HP:0100792
6 congenital bullous ichthyosiform erythroderma HP:0007475

UMLS symptoms related to Ichthyosis Bullosa of Siemens:


abdominal pain, constipation, diarrhea, dyspepsia, heartburn, nausea and vomiting, spasm, vomiting following gastrointestinal surgery, psychogenic dysuria, oropharyngeal spasm, urgent desire for stool, bowel spasm, gastrointestinal gas, psychogenic pseudosyncope

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 Siemens25 23 KRT2

Anatomical Context for Ichthyosis Bullosa of Siemens

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MalaCards organs/tissues related to Ichthyosis Bullosa of Siemens:

34
Skin, Testes

Animal Models for Ichthyosis Bullosa of Siemens or affiliated genes

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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
Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. (10688369)
2000
11
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. (11167982)
2000
12
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
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: a topical therapy option. (10052422)
1999
15
Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene. (10564334)
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
Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. (7521372)
1994
23
Ichthyosis bullosa of Siemens -- a disease involving keratin 2e. (7521371)
1994
24
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. (7524919)
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:

68 (show all 15)
id Symbol AA change Variation ID SNP ID
1KRT2p.Gln181ProVAR_003865rs57510142
2KRT2p.Glu487AspVAR_003866rs61726450
3KRT2p.Glu487LysVAR_003867rs61726449
4KRT2p.Asn186TyrVAR_009185rs61726454
5KRT2p.Glu476LysVAR_009186rs56829062
6KRT2p.Thr479ProVAR_009187rs61726453
7KRT2p.Ile182AsnVAR_010514rs61622714
8KRT2p.Asn186AspVAR_010515rs137852631
9KRT2p.Leu484ProVAR_010516rs61726451
10KRT2p.Asn186LysVAR_017829rs61726457
11KRT2p.Glu465AspVAR_031082
12KRT2p.Glu465LysVAR_031083rs758760389
13KRT2p.Glu476ValVAR_031084rs60537449
14KRT2p.Ile477AsnVAR_031085
15KRT2p.Glu488LysVAR_031086rs61726452

Clinvar genetic disease variations for Ichthyosis Bullosa of Siemens:

5
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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3KRT1, KRT2

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:00058829.9KRT10, KRT2
2keratin filamentGO:00450959.9KRT1, KRT2
3extracellular matrixGO:00310129.4CSTA, KRT1
4extracellular exosomeGO:00700628.0CSTA, KRT1, KRT10, KRT2
5extracellular spaceGO:00056157.7CSTA, KRT1, KRT10, KRT2

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

idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:00302169.1CSTA, KRT10

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051988.5CSTA, KRT1, KRT2

Sources for Ichthyosis Bullosa of Siemens

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet