IBS
MCID: ICH002
MIFTS: 45

Ichthyosis Bullosa of Siemens (IBS) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Bullosa of Siemens

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Ichthyosis Bullosa of Siemens:

Name: Ichthyosis Bullosa of Siemens 52 11 48 24 54 70 27 12 39 13
Superficial Epidermolytic Ichthyosis 11 54
Ibs 48 70
Bullous Type of Ichthyosis 48
 
Ichthyosis, Bullous Type 48
Ichthyosis Bullous Type 70
Bullous Type Ichthyosis 11
Sei 54

Characteristics:

Orphanet epidemiological data:

54
ichthyosis bullosa of siemens:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
ichthyosis bullosa of siemens:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 146800
Disease Ontology11 DOID:0060877
ICD1030 Q80.8
MeSH39 D053560
Orphanet54 ORPHA455
MESH via Orphanet40 D053560
UMLS via Orphanet69 C0432306
ICD10 via Orphanet31 Q80.8

Summaries for Ichthyosis Bullosa of Siemens

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UniProtKB/Swiss-Prot:70 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 superficial epidermolytic ichthyosis, is related to exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like and congenital disorder of glycosylation, type ib, and has symptoms including congenital bullous ichthyosiform erythroderma An important gene associated with Ichthyosis Bullosa of Siemens is KRT2 (Keratin 2), and among its related pathways are Corticotropin-releasing hormone signaling pathway and Cytoskeletal Signaling. Affiliated tissues include skin and testes, and related mouse phenotypes are digestive/alimentary and integument.

Disease Ontology:11 An ichthyosis characterized by autosomal dominant inheritance of congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance that has material basis in heterozygous mutation in the KRT2 gene on chromosome 12q13.

Description from OMIM:52 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 98)
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
6albinism, oculocutaneous, type ib12.0
7cutis laxa, autosomal recessive, type ib12.0
8glycogen storage disease ib12.0
9irritable bowel syndrome11.9
10amelogenesis imperfecta, type ib11.8
11dyserythropoietic anemia, congenital, type ib11.8
12progressive familial heart block, type ib11.8
13neuropathy, hereditary sensory, type ib11.7
14hyperlipoproteinemia, type ib11.7
15lymphedema, hereditary, ib11.7
16isolated growth hormone deficiency, type ib, ghrhr-related11.7
17isolated focal cortical dysplasia type ib11.7
18isolated growth hormone deficiency, type ib, gh1-related11.7
19bernard-soulier syndrome, type c11.6
20maple syrup urine disease, type ii11.5
21autoimmune lymphoproliferative syndrome11.4
22von willebrand disease, platelet-type11.1
23glycogen storage disease ia11.0
24isolated growth hormone deficiency11.0
25charcot-marie-tooth disease, type 1b11.0
26myasthenic syndrome, congenital, 1011.0
27achondrogenesis, type ia10.9
28usher syndrome, type 1b10.8
29efemp2-related cutis laxa10.8
30ichthyosis10.7
31congenital disorder of glycosylation, type ic10.7
32heart block, progressive, type ia10.7
33albinism, oculocutaneous, type ia10.7
34congenital disorder of glycosylation, type if10.7
35congenital disorder of glycosylation, type ie10.7
36thrombophilia due to antithrombin iii deficiency10.7
37myasthenic syndrome, congenital, 1b, fast-channel10.7
38rickets due to defect in vitamin d 25-hydroxylation10.7
39congenital myasthenic syndrome10.7
40bradyopsia10.3KRT1, KRT10
41palmoplantar keratoderma, nonepidermolytic10.3KRT1, KRT10
42epidermolytic ichthyosis10.3
43erdheim-chester disease10.3KRT1, KRT10, KRT9
44sclerosteosis 110.3KRT16, KRT6B
45ciliary dyskinesia, primary, 1, with or without situs inversus10.3KRT1, KRT10, KRT9
46chronic mountain sickness10.3KRT1, KRT16, KRT9
47white sponge nevus 110.3KRT1, KRT16, KRT9
48steroid inherited metabolic disorder10.2KRT1, KRT10, KRT2
49bacteriuria10.2KRT16, KRT6A, KRT6B
50papilledema10.2KRT16, KRT6A, KRT6B

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



Diseases related to ichthyosis bullosa of siemens

Symptoms & Phenotypes for Ichthyosis Bullosa of Siemens

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Symptoms by clinical synopsis from OMIM:

146800

Clinical features from OMIM:

146800

Human phenotypes related to Ichthyosis Bullosa of Siemens:

 64
id Description HPO Frequency HPO Source Accession
1 congenital bullous ichthyosiform erythroderma64 HP:0007475

MGI Mouse Phenotypes related to Ichthyosis Bullosa of Siemens according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4ATP2A2, ITGB7, KRT14, KRT16, KRT5, KRT6B
2MP:00107717.6ATP2A2, JUP, KRT1, KRT14, KRT16, KRT5

Drugs & Therapeutics for Ichthyosis Bullosa of Siemens

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ichthyosis Bullosa of Siemens


Cochrane evidence based reviews: ichthyosis bullosa of siemens

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 Siemens27 24 KRT2

Anatomical Context for Ichthyosis Bullosa of Siemens

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MalaCards organs/tissues related to Ichthyosis Bullosa of Siemens:

36
Skin, Testes

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
Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. (10688369)
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
A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. (10084318)
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
Ichthyosis bullosa of Siemens: a topical therapy option. (10052422)
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
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. (7524919)
1994
23
Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. (7521372)
1994
24
Ichthyosis bullosa of Siemens -- a disease involving keratin 2e. (7521371)
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:

70 (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)SNVPathogenicrs137852628GRCh37Chr 12, 53040532: 53040532
2KRT2NM_ 000423.2(KRT2): c.1459G> A (p.Glu487Lys)SNVPathogenicrs137852629GRCh37Chr 12, 53040534: 53040534
3KRT2NM_ 000423.2(KRT2): c.542A> C (p.Gln181Pro)SNVPathogenicrs57510142GRCh37Chr 12, 53045385: 53045385
4KRT2NM_ 000423.2(KRT2): c.1435A> C (p.Thr479Pro)SNVPathogenicrs137852630GRCh37Chr 12, 53040558: 53040558
5KRT2NM_ 000423.2(KRT2): c.556A> T (p.Asn186Tyr)SNVPathogenicrs137852631GRCh37Chr 12, 53045371: 53045371
6KRT2NM_ 000423.2(KRT2): c.1426G> A (p.Glu476Lys)SNVPathogenicrs56829062GRCh37Chr 12, 53040567: 53040567
7KRT2NM_ 000423.2(KRT2): c.556A> G (p.Asn186Asp)SNVPathogenicrs137852631GRCh37Chr 12, 53045371: 53045371
8KRT2NM_ 000423.2(KRT2): c.558C> A (p.Asn186Lys)SNVPathogenicrs137852632GRCh37Chr 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
19.0IVL, JUP, KRT1, KRT14
28.8JUP, KRT10, KRT5, KRT6A, KRT6B, PLEC
3
Show member pathways
8.4KRT1, KRT14, KRT16, KRT2, KRT5, KRT6A
4
Show member pathways
6.8CSTA, IVL, JUP, KRT1, KRT10, KRT14
5
Show member pathways
6.5CSTA, IVL, JUP, KRT1, KRT10, KRT14

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
1hemidesmosomeGO:003005610.4JUP, PLEC
2extracellular matrixGO:003101210.1CSTA, JUP, KRT1, PLEC
3cornified envelopeGO:00015339.7CSTA, IVL, JUP, KRT1, KRT10, KRT2
4extracellular spaceGO:00056159.0CSTA, IGFBP6, KRT1, KRT10, KRT2, KRT86
5keratin filamentGO:00450958.5KRT1, KRT14, KRT2, KRT5, KRT6A, KRT6B
6intermediate filamentGO:00058828.1JUP, KRT1, KRT10, KRT14, KRT16, KRT2
7cytosolGO:00058297.2CSTA, IVL, JUP, KRT1, KRT10, KRT14
8extracellular exosomeGO:00700625.8CSTA, IGFBP6, ITGB7, IVL, JUP, KRT1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:004510910.7KRT2, KRT9
2establishment of skin barrierGO:006143610.6KRT1, KRT16
3intermediate filament cytoskeleton organizationGO:004510410.6KRT16, KRT6A
4keratinocyte migrationGO:005154610.5KRT16, KRT2
5hair cycleGO:004263310.4KRT14, KRT16
6cytoskeleton organizationGO:000701010.0KRT16, KRT5, KRT6A, KRT6B
7hemidesmosome assemblyGO:00315819.9KRT14, KRT5, PLEC
8skin epidermis developmentGO:00987739.9KRT1, KRT10, KRT2
9keratinocyte differentiationGO:00302169.8CSTA, IVL, KRT10, KRT16
10peptide cross-linkingGO:00181499.4CSTA, IVL, KRT1, KRT10, KRT2
11epidermis developmentGO:00085449.2ATP2A2, KRT14, KRT16, KRT2, KRT5, KRT9
12keratinizationGO:00314247.6IVL, JUP, KRT1, KRT10, KRT14, KRT16
13cornificationGO:00702687.5CSTA, IVL, JUP, KRT1, KRT10, KRT14

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of epidermisGO:003028010.5KRT1, KRT10, KRT2
2structural constituent of cytoskeletonGO:00052009.1KRT14, KRT16, KRT2, KRT5, KRT6A, KRT6B
3structural molecule activityGO:00051988.3CSTA, IVL, JUP, KRT1, KRT16, KRT2

Sources for Ichthyosis Bullosa of Siemens

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet