MCID: ICH002
MIFTS: 40

Ichthyosis Bullosa of Siemens malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ichthyosis Bullosa of Siemens

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Aliases & Descriptions for Ichthyosis Bullosa of Siemens:

Name: Ichthyosis Bullosa of Siemens 49 11 45 22 67 36 24
Ibs 45 67
Bullous Type of Ichthyosis 45
 
Irritable Bowel Syndrome 65
Ichthyosis, Bullous Type 45
Ichthyosis Bullous Type 67

Characteristics:

HPO:

61
ichthyosis bullosa of siemens:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 146800
MeSH36 D053560

Summaries for Ichthyosis Bullosa of Siemens

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UniProtKB/Swiss-Prot:67 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 growth hormone deficiency, isolated, type ib, and has symptoms including acantholysis, abnormal blistering of the skin 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, breast and t cells.

Description from OMIM:49 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 61)
idRelated DiseaseScoreTop Affiliating Genes
1exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like12.9
2growth hormone deficiency, isolated, type ib12.5
3achondrogenesis ib12.5
4congenital disorder of glycosylation, type ib12.5
5pseudohypoparathyroidism, type ib12.5
6albinism, oculocutaneous, type ib12.5
7cutis laxa, autosomal recessive, type ib12.4
8glycogen storage disease ib12.4
9dyserythropoietic anemia, congenital, type ib12.3
10progressive familial heart block, type ib12.3
11amelogenesis imperfecta, type ib12.3
12hyperlipoproteinemia, type ib12.3
13lymphedema, hereditary, ib12.2
14neuropathy, hereditary sensory, type ib12.2
15isolated growth hormone deficiency, type ib, ghrhr-related12.2
16isolated focal cortical dysplasia type ib12.2
17isolated growth hormone deficiency, type ib, gh1-related12.2
18maple syrup urine disease, type ii11.9
19superficial epidermolytic ichthyosis11.6
20irritable bowel syndrome11.6
21autoimmune lymphoproliferative syndrome11.6
22bernard-soulier syndrome, type c11.6
23charcot-marie-tooth disease, type 1b11.4
24myasthenic syndrome, congenital, 1011.4
25usher syndrome, type 1b11.3
26efemp2-related cutis laxa11.3
27myasthenic syndrome, congenital, 1b, fast-channel11.2
28rickets due to defect in vitamin d 25-hydroxylation11.2
29congenital myasthenic syndrome11.2
30rheumatoid arthritis10.4
31hiv-110.4
32coronary artery disease10.4
33osteoporosis10.4
34pleuropulmonary blastoma10.4
35c7 deficiency10.4
36angioimmunoblastic lymphadenopathy with dysproteinemia10.4
37arthritis10.4
38restless legs syndrome10.4
39artery disease10.4
40autism spectrum disorder10.4
41lymphoma10.4
42blastoma10.4
43primary hyperparathyroidism10.4
44pyelonephritis10.4
45hyperparathyroidism10.4
46prostatitis10.4
47gaucher's disease10.4
48prostatic adenoma10.4
49adrenal carcinoma10.4
50conjunctivochalasis10.4

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 acantholysis hallmark (90%) HP:0100792
2 abnormal blistering of the skin hallmark (90%) HP:0008066
3 palmoplantar keratoderma hallmark (90%) HP:0000982
4 edema hallmark (90%) HP:0000969
5 thin skin hallmark (90%) HP:0000963
6 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 Siemens22 KRT2

Anatomical Context for Ichthyosis Bullosa of Siemens

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MalaCards organs/tissues related to Ichthyosis Bullosa of Siemens:

33
Skin, Breast, T cells

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
BRCA1 regulation of epidermal growth factor receptor (EGFR) expression in human breast cancer cells involves microRNA-146a and is critical for its tumor suppressor function. (25417703)
2015
2
Maturation and Diversity of the VRC01-Antibody Lineage over 15 Years of Chronic HIV-1 Infection. (25865483)
2015
3
FCGR3B copy number loss rather than gain is a risk factor for systemic lupus erythematous and lupus nephritis: a meta-analysis. (24673810)
2015
4
Two susceptibility loci to Takayasu arteritis reveal a synergistic role of the IL12B and HLA-B regions in a Japanese population. (23830516)
2013
5
Pyruvate production in Candida glabrata: manipulation and optimization of physiological function. (23883073)
2013
6
Polymorphisms in IL-1B Distinguish between Psoriasis of Early and Late Onset. (24217014)
2013
7
Ongoing outbreak of visceral leishmaniasis in Bologna Province, Italy, November 2012 to May 2013. (23929116)
2013
8
Radiographic assessment of vascular calcification, aortic pulse wave velocity, ankle-brachial index and fibroblast growth factor-23 in chronic hemodialysis patients. (23931875)
2013
9
Pinstripe: a suite of programs for integrating transcriptomic and proteomic datasets identifies novel proteins and improves differentiation of protein-coding and non-coding genes. (23044541)
2012
10
Mechanistic implications for LDL receptor degradation from the PCSK9/LDLR structure at neutral pH. (22081141)
2011
11
Oral rehabilitation following removal of a rhabdomyosarcoma and subsequent microstomia: a case report. (21663453)
2011
12
A novel persistence associated EBV miRNA expression profile is disrupted in neoplasia. (21901094)
2011
13
Ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) regulates the level of SMN expression through ubiquitination in primary spinal muscular atrophy fibroblasts. (20713032)
2010
14
Redox signaling, alkylation (carbonylation) of conserved cysteines inactivates class I histone deacetylases 1, 2, and 3 and antagonizes their transcriptional repressor function. (20385560)
2010
15
Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder. (19290059)
2009
16
Postmarketing surveillance study of OxyContin tablets for relieving moderate to severe postherpetic neuralgia pain. (18758201)
2008
17
N-WASP is a putative tumour suppressor in breast cancer cells, in vitro and in vivo, and is associated with clinical outcome in patients with breast cancer. (17985201)
2008
18
Jugular vein thrombosis with severe local and systemic inflammation in a woman with ovarian hyperstimulation syndrome. (16732386)
2006
19
Lafutidine can improve the quality of gastric ulcer healing in humans: a randomized, controlled, multicenter trial. (17186182)
2006
20
Clinical course of recurrent respiratory papillomatosis in Danish children. (15210551)
2004
21
P311 accelerates nerve regeneration of the axotomized facial nerve. (15485502)
2004
22
Ureteric bud outgrowth in response to RET activation is mediated by phosphatidylinositol 3-kinase. (11846482)
2002
23
Immunohistochemical detection of CD79a expression in precursor T cell lymphoblastic lymphoma/leukaemias. (12115880)
2002
24
Uterovaginal prolapse associated with rectal prolapse. (9761164)
1998
25
Characterization of a series of vacuolar type H(+)-ATPase inhibitors on CTL-mediated cytotoxicity. (9161879)
1997
26
Monoallelic expression of human PEG1/MEST is paralleled by parent- specific methylation in fetuses. (9192843)
1997
27
Probing the ionization state of substrate alpha-D-glucopyranosyl phosphate bound to glycogen phosphorylase b. (8948464)
1995
28
Stromal keratitis complicating anterior membrane dystrophy. (3874550)
1985
29
Relationship between 'eccentric contractions' of the gallbladder and the postcholecystectomy syndrome. (13683428)
1961

Variations for Ichthyosis Bullosa of Siemens

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

67 (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:

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
1keratin filamentGO:00450959.3KRT1, KRT2

Sources for Ichthyosis Bullosa of Siemens

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet