MCID: ICH002
MIFTS: 45

Ichthyosis Bullosa of Siemens

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Bullosa of Siemens

MalaCards integrated aliases for Ichthyosis Bullosa of Siemens:

Name: Ichthyosis Bullosa of Siemens 54 12 50 24 56 71 29 13 42 14
Superficial Epidermolytic Ichthyosis 12 56
Ibs 50 71
Bullous Type of Ichthyosis 50
Ichthyosis, Bullous Type 50
Bullous Type Ichthyosis 12
Ichthyosis Bullous Type 71
Sei 56

Characteristics:

Orphanet epidemiological data:

56
superficial epidermolytic ichthyosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant
? same as erythroderma ichthyosiformis congenita of brocq (113800)


HPO:

32
ichthyosis bullosa of siemens:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 146800
Disease Ontology 12 DOID:0060877
ICD10 33 Q80.8
MeSH 42 D053560
Orphanet 56 ORPHA455
MESH via Orphanet 43 D053560
UMLS via Orphanet 70 C0432306
ICD10 via Orphanet 34 Q80.8
UMLS 69 C0432306

Summaries for Ichthyosis Bullosa of Siemens

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 455disease definitionsuperficial epidermolytic ichthyosis (sei) is a rare keratinopathic ichthyosis (ki; see this term) characterized by the presence of superficial blisters and erosions at birth.epidemiologyless than 30 families have been reported in the literature.clinical descriptionclinical features of sei are similar but milder that those of epidermolytic ichthyosis (ei; see this term). sei presents at birth or during the neonatal period with mild superficial blistering that is more frequent on flexures, shins, abdomen and extremities. after a few weeks, the skin starts to peel leaving characteristic denuded areas with normal skin (called molting/ mauserung phenomenon). a variable and mild grey rippled hyperkeratosis develops predominantly on the limbs, lower trunk and flexural areas. blistering diminishes with age but persists through childhood and sometimes into adult life in response to trauma, heat or excessive sweating. palmoplantar involvement is usually not observed but palmoplantar blistering, usually associated with hyperhidrosis, may sometimes occur. skin odor is not present.etiologysei is caused by mutations in the krt2 gene encoding keratin 2. these mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton.diagnostic methodsdiagnosis is based on clinical and histological examination of skin lesions biopsies revealing acanthosis, a prominent granular layer, epidermolytic changes in the granular and upper spinous layers, hyperorthokeratosis and intracorneal blister formation. on electron microscopic examination, keratinocytes of the granular layer display structural alterations of tonofilaments. molecular analysis, if available, reveals krt2 mutations.differential diagnosisdifferential diagnosis includes epidermolytic ichthyosis, peeling skin syndrome, staphylococcal scalded skin syndrome, alopecia-contractures-dwarfism-intellectual disability syndrome (see these terms), and atopic dermatitis.antenatal diagnosisgenetic prenatal diagnosis is available for inherited ichthyoses (see this term) but it is generally not proposed for sei due to its mild course.genetic counselingtransmission is autosomal dominant. genetic counseling should be offered to affected families. the risk for an affected parent to have an affected child is 50%.management and treatmenttreatment is symptomatic. emollient and mild topical keratolytics may be used to reduce hyperkeratosis. low dose of oral retinoids may also reduce hyperkeratosis, but must be used with caution because of their side effects and of their effect in the increase of skin fragility. antibiotic therapy is required to treat secondary infection.prognosissei is usually a mild disease. life expectancy is normal and quality of life is not severely impaired.visit the orphanet disease page for more resources. last updated: 12/1/2012

MalaCards based summary : Ichthyosis Bullosa of Siemens, also known as superficial epidermolytic ichthyosis, is related to congenital disorder of glycosylation, type ib and pseudohypoparathyroidism, 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/superpathways are Developmental Biology and Cytoskeletal Signaling. Affiliated tissues include skin and testes, and related phenotypes are digestive/alimentary and integument

Disease Ontology : 12 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.

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 146800

Related Diseases for Ichthyosis Bullosa of Siemens

Diseases related to Ichthyosis Bullosa of Siemens via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
id Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ib 12.3
2 pseudohypoparathyroidism, type ib 12.2
3 exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like 12.2
4 growth hormone deficiency, isolated, type ib 12.1
5 albinism, oculocutaneous, type ib 12.0
6 glycogen storage disease ib 12.0
7 cutis laxa, autosomal recessive, type ib 12.0
8 irritable bowel syndrome 11.9
9 achondrogenesis ib 11.9
10 dyserythropoietic anemia, congenital, type ib 11.8
11 amelogenesis imperfecta, type ib 11.8
12 progressive familial heart block, type ib 11.8
13 hyperlipoproteinemia, type ib 11.8
14 peeling skin syndrome 4 11.7
15 isolated focal cortical dysplasia type ib 11.7
16 lymphedema, hereditary, ib 11.7
17 isolated growth hormone deficiency, type ib, gh1-related 11.7
18 isolated growth hormone deficiency, type ib, ghrhr-related 11.7
19 bernard-soulier syndrome, type c 11.6
20 autoimmune lymphoproliferative syndrome 11.3
21 von willebrand disease, platelet-type 11.1
22 isolated growth hormone deficiency 11.1
23 glycogen storage disease ia 11.1
24 maple syrup urine disease, type ii 11.0
25 charcot-marie-tooth disease, type 1b 11.0
26 myasthenic syndrome, congenital, 10 11.0
27 andersen syndrome 10.8 KRT1 KRT10
28 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 10.8
29 ichthyosis histrix, curth-macklin type 10.8 KRT1 KRT10
30 ichthyosis 10.7
31 congenital disorder of glycosylation, type ic 10.7
32 congenital disorder of glycosylation, type if 10.7
33 congenital disorder of glycosylation, type ie 10.7
34 thrombophilia due to antithrombin iii deficiency 10.7
35 steatocystoma multiplex 10.7 KRT16 KRT6B
36 benign hypertensive renal disease 10.7 KRT16 KRT6A
37 marburg hemorrhagic fever 10.7 KRT1 KRT10 KRT9
38 squamous cell carcinoma 10.7 KRT1 KRT10 KRT9
39 rickets due to defect in vitamin d 25-hydroxylation 10.7
40 usher syndrome, type 1b 10.7
41 sclerosteosis 1 10.7 KRT10 KRT16
42 bamforth-lazarus syndrome 10.7 KRT1 KRT10 KRT9
43 basal cell carcinoma 4 10.6 KRT1 KRT16 KRT9
44 keratosis palmoplantaris striata iii 10.6 KRT1 KRT16 KRT9
45 boylan dew greco syndrome 10.6 KRT10 KRT16
46 palmoplantar keratoderma, epidermolytic 10.6 KRT1 KRT16 KRT9
47 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 10.6 KRT10 KRT16
48 bacteriuria 10.6 KRT16 KRT6A KRT6B
49 papilledema 10.6 KRT16 KRT6A KRT6B
50 cholesteatoma of attic 10.5 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

Symptoms via clinical synopsis from OMIM:

54

Skin:
bullous ichthyosis


Clinical features from OMIM:

146800

Human phenotypes related to Ichthyosis Bullosa of Siemens:

32
id Description HPO Frequency HPO Source Accession
1 congenital bullous ichthyosiform erythroderma 32 HP:0007475

MGI Mouse Phenotypes related to Ichthyosis Bullosa of Siemens:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.56 ITGB7 KRT14 KRT16 KRT5 KRT6B RARG
2 integument MP:0010771 9.28 ATP2A2 JUP KRT1 KRT14 KRT16 KRT5

Drugs & Therapeutics for Ichthyosis Bullosa of Siemens

Search Clinical Trials , NIH Clinical Center for Ichthyosis Bullosa of Siemens

Cochrane evidence based reviews: ichthyosis bullosa of siemens

Genetic Tests for Ichthyosis Bullosa of Siemens

Genetic tests related to Ichthyosis Bullosa of Siemens:

id Genetic test Affiliating Genes
1 Ichthyosis Bullosa of Siemens 29 24 KRT2

Anatomical Context for Ichthyosis Bullosa of Siemens

MalaCards organs/tissues related to Ichthyosis Bullosa of Siemens:

39
Skin, Testes

Publications for Ichthyosis Bullosa of Siemens

Articles related to Ichthyosis Bullosa of Siemens:

(show all 29)
id Title Authors Year
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 asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. ( 10620137 )
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 mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. ( 11167982 )
2000
13
Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene. ( 10564334 )
1999
14
Ichthyosis bullosa of Siemens: a topical therapy option. ( 10052422 )
1999
15
A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. ( 10084318 )
1999
16
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature. ( 10233323 )
1999
17
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
18
A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens. ( 9833038 )
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
Ichthyosis bullosa of Siemens -- a disease involving keratin 2e. ( 7521371 )
1994
23
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. ( 8077693 )
1994
24
Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. ( 7521372 )
1994
25
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. ( 7524919 )
1994
26
Ichthyosis bullosa of Siemens responds well to low-dosage oral retinoids. ( 1836350 )
1991
27
Ichthyosis bullosa of Siemens and bullous ichthyosiform erythroderma--variants of the same disease? ( 2178822 )
1990
28
Ichthyosis bullosa of Siemens: further delineation of the phenotype. ( 2138447 )
1990
29
Ichthyosis bullosa of Siemens: a unique type of epidermolytic hyperkeratosis. ( 3522665 )
1986

Variations for Ichthyosis Bullosa of Siemens

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

71 (show all 15)
id Symbol AA change Variation ID SNP ID
1 KRT2 p.Gln181Pro VAR_003865 rs57510142
2 KRT2 p.Glu487Asp VAR_003866 rs61726450
3 KRT2 p.Glu487Lys VAR_003867 rs61726449
4 KRT2 p.Asn186Tyr VAR_009185 rs61726454
5 KRT2 p.Glu476Lys VAR_009186 rs56829062
6 KRT2 p.Thr479Pro VAR_009187 rs61726453
7 KRT2 p.Ile182Asn VAR_010514 rs61622714
8 KRT2 p.Asn186Asp VAR_010515 rs137852631
9 KRT2 p.Leu484Pro VAR_010516 rs61726451
10 KRT2 p.Asn186Lys VAR_017829 rs61726457
11 KRT2 p.Glu465Asp VAR_031082
12 KRT2 p.Glu465Lys VAR_031083 rs758760389
13 KRT2 p.Glu476Val VAR_031084 rs60537449
14 KRT2 p.Ile477Asn VAR_031085
15 KRT2 p.Glu488Lys VAR_031086 rs61726452

ClinVar genetic disease variations for Ichthyosis Bullosa of Siemens:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT2 NM_000423.2(KRT2): c.1461G> T (p.Glu487Asp) single nucleotide variant Pathogenic rs137852628 GRCh37 Chromosome 12, 53040532: 53040532
2 KRT2 NM_000423.2(KRT2): c.1459G> A (p.Glu487Lys) single nucleotide variant Pathogenic rs137852629 GRCh37 Chromosome 12, 53040534: 53040534
3 KRT2 NM_000423.2(KRT2): c.542A> C (p.Gln181Pro) single nucleotide variant Pathogenic rs57510142 GRCh37 Chromosome 12, 53045385: 53045385
4 KRT2 NM_000423.2(KRT2): c.1435A> C (p.Thr479Pro) single nucleotide variant Pathogenic rs137852630 GRCh37 Chromosome 12, 53040558: 53040558
5 KRT2 NM_000423.2(KRT2): c.556A> T (p.Asn186Tyr) single nucleotide variant Pathogenic rs137852631 GRCh37 Chromosome 12, 53045371: 53045371
6 KRT2 NM_000423.2(KRT2): c.1426G> A (p.Glu476Lys) single nucleotide variant Pathogenic rs56829062 GRCh37 Chromosome 12, 53040567: 53040567
7 KRT2 NM_000423.2(KRT2): c.556A> G (p.Asn186Asp) single nucleotide variant Pathogenic rs137852631 GRCh37 Chromosome 12, 53045371: 53045371
8 KRT2 NM_000423.2(KRT2): c.558C> A (p.Asn186Lys) single nucleotide variant Pathogenic rs137852632 GRCh37 Chromosome 12, 53045369: 53045369

Expression for Ichthyosis Bullosa of Siemens

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

Pathways for Ichthyosis Bullosa of Siemens

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 CSTA IVL JUP KRT1 KRT10 KRT14
2 12.22 JUP KRT10 KRT5 KRT6A KRT6B PLEC
3
Show member pathways
11.89 CSTA IVL JUP KRT1 KRT10 KRT14
4
Show member pathways
11.73 KRT1 KRT14 KRT16 KRT2 KRT5 KRT6A
5 11.59 IVL JUP KRT1 KRT14

GO Terms for Ichthyosis Bullosa of Siemens

Cellular components related to Ichthyosis Bullosa of Siemens according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 9.73 CSTA IVL JUP KRT1 KRT10 KRT2
2 extracellular matrix GO:0031012 9.71 CSTA JUP KRT1 PLEC
3 keratin filament GO:0045095 9.5 KRT1 KRT14 KRT2 KRT5 KRT6A KRT6B
4 hemidesmosome GO:0030056 9.37 JUP PLEC
5 intermediate filament GO:0005882 9.36 JUP KRT1 KRT10 KRT14 KRT16 KRT2
6 cytosol GO:0005829 10.17 CSTA IVL JUP KRT1 KRT10 KRT14
7 extracellular exosome GO:0070062 10.06 CSTA IGFBP6 ITGB7 IVL JUP KRT1

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.77 CSTA IVL JUP KRT1 KRT10 KRT14
2 cytoskeleton organization GO:0007010 9.76 KRT16 KRT5 KRT6A KRT6B
3 keratinocyte differentiation GO:0030216 9.71 CSTA IVL KRT10 KRT16
4 peptide cross-linking GO:0018149 9.65 CSTA IVL KRT1 KRT10 KRT2
5 epidermis development GO:0008544 9.63 ATP2A2 KRT14 KRT16 KRT2 KRT5 KRT9
6 establishment of skin barrier GO:0061436 9.54 KRT1 KRT16
7 hemidesmosome assembly GO:0031581 9.54 KRT14 KRT5 PLEC
8 intermediate filament cytoskeleton organization GO:0045104 9.51 KRT16 KRT6A
9 skin epidermis development GO:0098773 9.5 KRT1 KRT10 KRT2
10 intermediate filament organization GO:0045109 9.49 KRT2 KRT9
11 hair cycle GO:0042633 9.48 KRT14 KRT16
12 keratinocyte migration GO:0051546 9.43 KRT16 KRT2
13 keratinization GO:0031424 9.4 IVL JUP KRT1 KRT10 KRT14 KRT16
14 morphogenesis of an epithelium GO:0002009 9.22 KRT16

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.5 KRT14 KRT16 KRT2 KRT5 KRT6A KRT6B
2 structural constituent of epidermis GO:0030280 9.33 KRT1 KRT10 KRT2
3 structural molecule activity GO:0005198 9.23 CSTA IVL JUP KRT1 KRT16 KRT2

Sources for Ichthyosis Bullosa of Siemens

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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