IBS
MCID: ICH002
MIFTS: 50

Ichthyosis Bullosa of Siemens (IBS) malady

Skin diseases category

Summaries for Ichthyosis Bullosa of Siemens

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46OMIM, 32MalaCards
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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 palmoplantar hyperkeratosis/keratoderma, ichthyosis/ichthyosiform dermatitis and vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment. 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 propantheline and propantheline bromide and the compounds kininogen and isotretinoin have been mentioned in the context of this disorder. Affiliated tissues include skin.

Description from OMIM:46 146800

Aliases & Classifications for Ichthyosis Bullosa of Siemens

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
ichthyosis bullosa of siemens:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ichthyosis bullosa of siemens 42 20 22 46 48
bullous congenital ichthyosiform erythroderma 60
superficial epidermolytic ichthyosis 48
bullous type of ichthyosis 42
ichthyosis, bullous type 42
irritable bowel syndrome 60
sei 48
ibs 42


External Ids:

OMIM46 146800
MESH via Orphanet35 D053560
ICD10 via Orphanet26 Q80.8
SNOMED-CT via Orphanet57 254169002
UMLS via Orphanet61 C0432306

Related Diseases for Ichthyosis Bullosa of Siemens

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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 280)
idRelated DiseaseScoreTop Affiliating Genes
1congenital ichthyosiform erythroderma30.7KRT1, KRT10
2epidermolytic hyperkeratosis30.7KRT10, KRT1
3squamous cell carcinoma30.4KRT10, KRT1, CSTA
4keratosis30.4KRT1, KRT10
5epidermolysis bullosa simplex30.4KRT1, KRT2, KRT10
6cervical cancer30.4KRT10, KRT1
7skin disease29.6KRT10, KRT1, CSTA
8glycogen storage disease10.7
9irritable bowel syndrome10.6
10pseudohypoparathyroidism10.6
11functional diarrhea10.6
12palmoplantar keratoderma, epidermolytic10.6
13gastroenteritis10.5
14bernard-soulier syndrome10.5
15gastroesophageal reflux disease10.5
16cervicitis10.5
17exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like10.5
18celiac disease10.5
19adult syndrome10.5
20rickets10.5
21restless legs syndrome10.4
22panic disorder10.4
23chronic fatigue syndrome10.4
24anxiety disorder10.4
25generalized anxiety disorder10.3
26somatization disorder10.3
27infertility10.3
28dysentery10.3
29endometriosis10.3
30esophagitis10.3
31migraine10.3
32pelvic inflammatory disease10.3
33fibrous histiocytoma10.3
34cutaneous fibrous histiocytoma10.3
35noonan syndrome10.3
36ocular albinism10.3
37epidermolysis bullosa10.3
38histiocytoma10.3
39seborrheic keratosis10.3
40skin melanoma10.3
41ichthyosis hystrix gravior10.3
42krt1-related epidermolytic hyperkeratosis10.3
43krt10-related epidermolytic hyperkeratosis10.3
44ichthyosis, congenital, autosomal recessive 210.3
45neutropenia10.3
46achondrogenesis type ib10.3
47lung cancer10.3
48constipation10.3
49congenital disorder of glycosylation type 1b10.3
50congenital disorder of glycosylation10.2

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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

146800

Clinical synopsis from OMIM:

146800

Symptoms:

48 (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

Drugs & Therapeutics for Ichthyosis Bullosa of Siemens

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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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 UMLS60/NDF-RT40:

Genetic Tests for Ichthyosis Bullosa of Siemens

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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

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32MalaCards
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MalaCards organs/tissues related to Ichthyosis Bullosa of Siemens:

32
Skin

Animal Models for Ichthyosis Bullosa of Siemens or affiliated genes

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Publications for Ichthyosis Bullosa of Siemens

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Genetic Variations for Ichthyosis Bullosa of Siemens

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Sources:
62UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Ichthyosis Bullosa of Siemens

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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

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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

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Sources:
44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Ichthyosis Bullosa of Siemens according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1kininogen449.3KRT1, CSTA
2isotretinoin44 1110.1KRT10, KRT1
3isoleucine449.1KRT1, KRT10
4bromodeoxyuridine449.0KRT10, KRT1
5hematoxylin448.9KRT10, KRT1
6tazarotene44 119.7KRT10, KRT2, KRT1
7retinoid448.7KRT10, KRT2, KRT1
8retinoic acid44 249.2KRT1, KRT2, KRT10

GO Terms for genes affiliated with Ichthyosis Bullosa of Siemens

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ichthyosis Bullosa of Siemens

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet