IBS
MCID: ICH002
MIFTS: 41

Ichthyosis Bullosa of Siemens (IBS) malady

Skin category

Summaries for Ichthyosis Bullosa of Siemens

Sources:
47OMIM, 33MalaCards
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MalaCards: Ichthyosis Bullosa of Siemens, also known as bullous congenital ichthyosiform erythroderma, is related to congenital ichthyosiform erythroderma and epidermolytic hyperkeratosis, and has symptoms including autosomal dominant inheritance, ichthyosis/ichthyosiform dermatitis and erythema/erythematous lesions/erythroderma/polymorphous erythema. 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 hyoscyamine sulfate and propantheline and the compounds kininogen and isotretinoin have been mentioned in the context of this disorder.

Description from OMIM:47 146800

Aliases & Classifications for Ichthyosis Bullosa of Siemens

Sources:
61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Characteristics (Orphanet epidemiological data):

49
ichthyosis bullosa of siemens:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ichthyosis bullosa of siemens 43 20 22 47 49
bullous congenital ichthyosiform erythroderma 61
superficial epidermolytic ichthyosis 49
bullous type of ichthyosis 43
ichthyosis, bullous type 43
irritable bowel syndrome 61
ibs 43
sei 49


External Ids:

OMIM47 146800
MESH via Orphanet36 D053560
ICD10 via Orphanet26 Q80.8
SNOMED-CT via Orphanet58 254169002
UMLS via Orphanet62 C0432306

Related Diseases for Ichthyosis Bullosa of Siemens

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Ichthyosis Bullosa of Siemens via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 239)
idRelated DiseaseScoreTop Affiliating Genes
1congenital ichthyosiform erythroderma30.7KRT1, KRT10
2epidermolytic hyperkeratosis30.7KRT10, KRT1
3epidermolysis bullosa simplex30.5KRT1, KRT2, KRT10
4squamous cell carcinoma30.5KRT10, KRT1, CSTA
5irritable bowel syndrome11.6
6serotonin syndrome10.9
7dyspepsia10.9
8micro syndrome10.9
9lactose intolerance10.7
10ulcerative colitis10.6
11microscopic colitis10.6
12palmoplantar keratoderma, epidermolytic10.6
13bernard-soulier syndrome10.6
14gastroesophageal reflux disease10.5
15exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like10.5
16functional diarrhea10.5
17celiac disease10.5
18adult syndrome10.5
19mast syndrome10.5
20chronic pain10.5
21rickets10.5
22n syndrome10.5
23char syndrome10.5
24fibromyalgia10.5
25restless legs syndrome10.4
26panic disorder10.4
27chronic fatigue syndrome10.4
28anxiety disorder10.4
29young syndrome10.4
30glycogen storage disease i10.4
31krt1-related epidermolytic hyperkeratosis10.3
32generalized anxiety disorder10.3
333-m syndrome10.3
34bod syndrome10.3
35fibrous histiocytoma10.3
36cutaneous fibrous histiocytoma10.3
37noonan syndrome10.3
38ocular albinism10.3
39albinism10.3
40ichthyosis hystrix gravior10.3
41pleomorphic malignant fibrous histiocytoma10.3
42krt10-related epidermolytic hyperkeratosis10.3
43ichthyosis, congenital, autosomal recessive 210.3
44pleomorphic undifferentiated sarcoma10.3
45congenital disorder of glycosylation type 1b10.3
46pseudohypoparathyroidism type 1b10.3
47fecal incontinence10.3
48crohn's disease10.3
49somatization disorder10.3
50agoraphobia10.3

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



Diseases related to ichthyosis bullosa of siemens

Clinical Features for Ichthyosis Bullosa of Siemens

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

146800

Clinical synopsis from OMIM:

146800

Symptoms:

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

Drugs & Therapeutics for Ichthyosis Bullosa of Siemens

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Ichthyosis Bullosa of Siemens

Drug clinical trials:

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Search NIH Clinical Center for Ichthyosis Bullosa of Siemens

Search CenterWatch for Ichthyosis Bullosa of Siemens

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Ichthyosis Bullosa of Siemens

Sources:
20GeneTests, 22GTR
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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

Animal Models for Ichthyosis Bullosa of Siemens or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Ichthyosis Bullosa of Siemens

Genetic Variations for Ichthyosis Bullosa of Siemens

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Ichthyosis Bullosa of Siemens:

63 (show all 15)
id Symbol AA change Variation 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

Expression for genes affiliated with Ichthyosis Bullosa of Siemens

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ichthyosis Bullosa of Siemens

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

Pathways for genes affiliated with Ichthyosis Bullosa of Siemens

Sources:
12EMD Millipore
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Pathways related to Ichthyosis Bullosa of Siemens according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3KRT2, KRT1

Compounds for genes affiliated with Ichthyosis Bullosa of Siemens

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Ichthyosis Bullosa of Siemens according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1kininogen459.3CSTA, KRT1
2isotretinoin45 1110.1KRT1, KRT10
3isoleucine459.1KRT1, KRT10
4bromodeoxyuridine459.0KRT10, KRT1
5hematoxylin458.9KRT1, KRT10
6tazarotene45 119.7KRT1, KRT2, KRT10
7retinoid458.7KRT1, KRT2, KRT10
8retinoic acid45 249.2KRT1, KRT2, KRT10

GO Terms for genes affiliated with Ichthyosis Bullosa of Siemens

Sources:
16Gene Ontology
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Cellular components related to Ichthyosis Bullosa of Siemens according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.1KRT10, KRT2
2keratin filamentGO:0450958.2KRT10, KRT2, KRT1

Biological processes related to Ichthyosis Bullosa of Siemens according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:0302169.1KRT10, CSTA

Molecular functions related to Ichthyosis Bullosa of Siemens according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.3KRT1, CSTA

Products for genes affiliated with Ichthyosis Bullosa of Siemens

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ichthyosis Bullosa of Siemens

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet