IBS
MCID: ICH002
MIFTS: 47

Ichthyosis Bullosa of Siemens (IBS)

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 57 76 53 59 75 37 29 13 6 40
Ibs 57 53 75
Ichthyosis, Bullous Type 57 53
Superficial Epidermolytic Ichthyosis 59
Bullous Type of Ichthyosis 53
Ichthyosis Bullous Type 75
Sei 59

Characteristics:

Orphanet epidemiological data:

59
superficial epidermolytic ichthyosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant
? same as erythroderma ichthyosiformis congenita of brocq (113800)


HPO:

32
ichthyosis bullosa of siemens:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 146800
Orphanet 59 ORPHA455
MESH via Orphanet 45 D053560
UMLS via Orphanet 74 C0432306
ICD10 via Orphanet 34 Q80.8
MeSH 44 D053560
KEGG 37 H00693
SNOMED-CT via HPO 69 263681008 239071005 254167000

Summaries for Ichthyosis Bullosa of Siemens

NIH Rare Diseases : 53 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.

MalaCards based summary : Ichthyosis Bullosa of Siemens, also known as ibs, is related to epidermolytic hyperkeratosis and ichthyosis. An important gene associated with Ichthyosis Bullosa of Siemens is KRT2 (Keratin 2), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin, colon and testes, and related phenotypes are ichthyosis and palmoplantar keratoderma

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin... more...

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 304)
# Related Disease Score Top Affiliating Genes
1 epidermolytic hyperkeratosis 32.4 KRT2 KRT10 KRT1
2 ichthyosis 30.6 KRT2 KRT10 KRT1 CSTA
3 exfoliative ichthyosis 30.2 KRT2 CSTA
4 autosomal dominant epidermolytic ichthyosis 30.1 KRT10 KRT1
5 congenital disorder of glycosylation, type ib 12.6
6 pseudohypoparathyroidism, type ib 12.5
7 isolated growth hormone deficiency, type ib 12.5
8 albinism, oculocutaneous, type ib 12.4
9 achondrogenesis, type ib 12.3
10 cutis laxa, autosomal recessive, type ib 12.3
11 peeling skin syndrome 4 12.3
12 glycogen storage disease ib 12.2
13 irritable bowel syndrome 12.2
14 anemia, congenital dyserythropoietic, type ib 12.1
15 amelogenesis imperfecta, type ib 12.1
16 bernard-soulier syndrome 12.1
17 progressive familial heart block, type ib 12.1
18 lymphedema, hereditary, ib 12.1
19 palmoplantar keratoderma, punctate type ib 12.1
20 isolated focal cortical dysplasia type ib 12.0
21 pseudo-von willebrand disease 11.7
22 maple syrup urine disease 11.5
23 autoimmune lymphoproliferative syndrome 11.5
24 charcot-marie-tooth disease, demyelinating, type 1b 11.4
25 myasthenic syndrome, congenital, 10 11.4
26 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 11.4
27 isolated growth hormone deficiency 11.3
28 glycogen storage disease ia 11.3
29 apolipoprotein c-ii deficiency 11.2
30 usher syndrome, type i 11.2
31 isolated growth hormone deficiency, type iv 11.1
32 congenital disorder of glycosylation, type ic 11.0
33 congenital disorder of glycosylation, type ie 11.0
34 congenital disorder of glycosylation, type if 11.0
35 antithrombin iii deficiency 11.0
36 achondrogenesis, type ii 10.9
37 myasthenic syndrome, congenital, 1b, fast-channel 10.9
38 congenital myasthenic syndrome 10.9
39 efemp2-related cutis laxa 10.9
40 lung cancer 10.9
41 glycogen storage disease 10.7
42 neuroblastoma 10.5
43 diarrhea 10.5
44 pseudohypoparathyroidism 10.5
45 constipation 10.5
46 cervical cancer 10.4
47 small cell cancer of the lung 10.3
48 von willebrand's disease 10.3
49 adenocarcinoma 10.3
50 squamous cell carcinoma 10.3

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:

57
Skin:
bullous ichthyosis


Clinical features from OMIM:

146800

Human phenotypes related to Ichthyosis Bullosa of Siemens:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 59 Very frequent (99-80%)
2 palmoplantar keratoderma 59 Very frequent (99-80%)
3 abnormal blistering of the skin 59 Very frequent (99-80%)
4 edema 59 Very frequent (99-80%)
5 thin skin 59 Very frequent (99-80%)
6 erythema 59 Occasional (29-5%)
7 acantholysis 59 Very frequent (99-80%)
8 congenital bullous ichthyosiform erythroderma 32 HP:0007475

Drugs & Therapeutics for Ichthyosis Bullosa of Siemens

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

Genetic Tests for Ichthyosis Bullosa of Siemens

Genetic tests related to Ichthyosis Bullosa of Siemens:

# Genetic test Affiliating Genes
1 Ichthyosis Bullosa of Siemens 29 KRT2

Anatomical Context for Ichthyosis Bullosa of Siemens

MalaCards organs/tissues related to Ichthyosis Bullosa of Siemens:

41
Skin, Colon, Testes, Small Intestine, Brain, Bone, Heart

Publications for Ichthyosis Bullosa of Siemens

Articles related to Ichthyosis Bullosa of Siemens:

(show top 50) (show all 648)
# Title Authors Year
1
The Experience Sampling Method-Evaluation of treatment effect of escitalopram in IBS with comorbid panic disorder. ( 30460734 )
2019
2
Subgroups of IBS patients are characterized by specific, reproducible profiles of GI and non-GI symptoms and report differences in healthcare utilization: A population-based study. ( 30393924 )
2019
3
Influence of the requirement for abdominal pain in the diagnosis of irritable bowel syndrome with constipation (IBS-C) under the Rome IV criteria using data from a large Japanese population-based internet survey. ( 30534195 )
2018
4
In IBS with constipation, plecanatide reduced abdominal pain and increased bowel movements at 12 wk. ( 30014100 )
2018
5
Impact of symptoms by gender and age in Japanese subjects with irritable bowel syndrome with constipation (IBS-C): a large population-based internet survey. ( 30186363 )
2018
6
FABP4 blocker attenuates colonic hypomotility and modulates white adipose tissue-derived hormone levels in mouse models mimicking constipation-predominant IBS. ( 29266569 )
2018
7
Cholescintigraphic patterns in a IBS patient with postprandial diarrhea. ( 29456096 )
2018
8
Consensus document on exclusion diets in irritable bowel syndrome (IBS). ( 30421956 )
2018
9
Experiences of the effects of physical activity in persons with irritable bowel syndrome (IBS): a qualitative content analysis. ( 30472905 )
2018
10
Consensus document on exclusion diets in irritable bowel syndrome (IBS). ( 30525861 )
2018
11
A Meta-Analysis of the Clinical Use of Curcumin for Irritable Bowel Syndrome (IBS). ( 30248988 )
2018
12
Work Productivity and Activity Impairment in Irritable Bowel Syndrome (IBS): A Multifaceted Problem. ( 30254230 )
2018
13
The role of inflammation in irritable bowel syndrome (IBS). ( 30288077 )
2018
14
Therapeutic Potential of Zataria multiflora Boiss in Treatment of Irritable Bowel Syndrome (IBS). ( 29333891 )
2018
15
The Gut-Brain Axis and the Microbiome: Clues to Pathophysiology and Opportunities for Novel Management Strategies in Irritable Bowel Syndrome (IBS). ( 29301380 )
2018
16
Multivariate modelling of faecal bacterial profiles of patients with IBS predicts responsiveness to a diet low in FODMAPs. ( 28416515 )
2018
17
(Can't Get No) Patient Satisfaction: The Predictive Power of Demographic, GI, and Psychological Factors in IBS Patients. ( 28787357 )
2018
18
Butyrate promotes visceral hypersensitivity in an IBS-like model via enteric glial cell-derived nerve growth factor. ( 29052293 )
2018
19
Stool as a treatment for IBS: more questions than answers? ( 29100844 )
2018
20
Using the Rome IV Criteria to Help Manage the Complex IBS Patient. ( 29257142 )
2018
21
Clostridium difficile-related postinfectious IBS: a case of enteroglial microbiological stalking and/or the solution of a conundrum? ( 29285574 )
2018
22
IBS: High FODMAP diet induces LPS-derived intestinal inflammation and visceral hypersensitivity. ( 29300051 )
2018
23
Sucrase-isomaltase 15Phe IBS risk variant in relation to dietary carbohydrates and faecal microbiota composition. ( 29331942 )
2018
24
Decreased TESK1-mediated cofilin 1 phosphorylation in the jejunum of IBS-D patients may explain increased female predisposition to epithelial dysfunction. ( 29396473 )
2018
25
Longitudinal impact of IBS-type symptoms on disease activity, healthcare utilization, psychological health, and quality of life in inflammatory bowel disease. ( 29453384 )
2018
26
Low FODMAP Diet for IBS. ( 29526727 )
2018
27
MLCK-mediated intestinal permeability promotes immune activation and visceral hypersensitivity in PI-IBS mice. ( 29644768 )
2018
28
A Novel EphA2 Inhibitor Exerts Beneficial Effects in PI-IBS in Vivo and in Vitro Models via Nrf2 and NF-κB Signaling Pathways. ( 29662452 )
2018
29
Clinical and Microbiological Effect of a Multispecies Probiotic Supplementation in Celiac Patients With Persistent IBS-type Symptoms: A Randomized, Double-Blind, Placebo-controlled, Multicenter Trial. ( 29688915 )
2018
30
Implications of Pharmacogenomics to the Management of IBS. ( 29709540 )
2018
31
A Systematic Review of the Effectiveness of Psychological Treatments for IBS in Gastroenterology Settings: Promising but in Need of Further Study. ( 29744772 )
2018
32
Effect of acupuncture and its influence on visceral hypersensitivity in IBS-D patients: Study protocol for a randomized controlled trial. ( 29794793 )
2018
33
Functional abdominal pain and discomfort (IBS) is not associated with faecal microbiota composition in the general population. ( 29860240 )
2018
34
How the Change in IBS Criteria From Rome III to Rome IV Impacts on Clinical Characteristics and Key Pathophysiological Factors. ( 29880963 )
2018
35
Letter: all or nothing-placebo effects in a non-drug clinical trial in IBS. Authors' reply. ( 29882979 )
2018
36
Letter: all or nothing-placebo effects in a non-drug clinical trial in IBS. ( 29882985 )
2018
37
Lactobacillus acidophilus CL1285, Lactobacillus casei LBC80R and Lactobacillus rhamnosus CLR2 improve quality-of-life and IBS symptoms: a double-blind, randomised, placebo-controlled study. ( 29888656 )
2018
38
New treatments and therapeutic targets for IBS and other functional bowel disorders. ( 29930260 )
2018
39
Discovery of a First-in-Class Gut-Restricted RET Kinase Inhibitor as a Clinical Candidate for the Treatment of IBS. ( 30034590 )
2018
40
Patients' perspectives on GP interactions after cognitive behavioural therapy for refractory IBS: a qualitative study in UK primary and secondary care. ( 30061195 )
2018
41
Microstructural White Matter Abnormalities in the Dorsal Cingulum of Adolescents with IBS. ( 30109260 )
2018
42
Preparation and X-ray structure of 2-iodoxybenzenesulfonic acid (IBS) - a powerful hypervalent iodine(V) oxidant. ( 30112090 )
2018
43
Primum non nocere: is faecal microbiota transplantation doing harm to patients with IBS? ( 30158252 )
2018
44
Effect of Dietary Changes on IBS Symptoms. ( 30216027 )
2018
45
Are personalized tongxie formula based on diagnostic analyses more effective in reducing IBS symptoms?-A randomized controlled trial. ( 30219477 )
2018
46
Efficacy of glutamine in postinfection IBS. ( 30244201 )
2018
47
Lacto-fermented sauerkraut improves symptoms in IBS patients independent of product pasteurisation - a pilot study. ( 30256365 )
2018
48
Understanding and Managing IBS and CIC in the Primary Care Setting. ( 30279636 )
2018
49
Post-infectious IBS: Defining its clinical features and prognosis using an internet-based survey. ( 30288287 )
2018
50
Noninvasive biomarkers of gut barrier function identify two subtypes of patients suffering from diarrhoea predominant-IBS: a case-control study. ( 30400824 )
2018

Variations for Ichthyosis Bullosa of Siemens

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

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 KRT2 p.Gln181Pro VAR_003865 rs57510142
2 KRT2 p.Glu487Asp VAR_003866 rs137852628
3 KRT2 p.Glu487Lys VAR_003867 rs137852629
4 KRT2 p.Asn186Tyr VAR_009185 rs137852631
5 KRT2 p.Glu476Lys VAR_009186 rs56829062
6 KRT2 p.Thr479Pro VAR_009187 rs137852630
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 rs137852632
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 (show top 50) (show all 116)
# 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.1461G> T (p.Glu487Asp) single nucleotide variant Pathogenic rs137852628 GRCh38 Chromosome 12, 52646748: 52646748
3 KRT2 NM_000423.2(KRT2): c.1459G> A (p.Glu487Lys) single nucleotide variant Pathogenic rs137852629 GRCh37 Chromosome 12, 53040534: 53040534
4 KRT2 NM_000423.2(KRT2): c.1459G> A (p.Glu487Lys) single nucleotide variant Pathogenic rs137852629 GRCh38 Chromosome 12, 52646750: 52646750
5 KRT2 NM_000423.2(KRT2): c.542A> C (p.Gln181Pro) single nucleotide variant Pathogenic rs57510142 GRCh37 Chromosome 12, 53045385: 53045385
6 KRT2 NM_000423.2(KRT2): c.542A> C (p.Gln181Pro) single nucleotide variant Pathogenic rs57510142 GRCh38 Chromosome 12, 52651601: 52651601
7 KRT2 NM_000423.2(KRT2): c.1435A> C (p.Thr479Pro) single nucleotide variant Pathogenic rs137852630 GRCh37 Chromosome 12, 53040558: 53040558
8 KRT2 NM_000423.2(KRT2): c.1435A> C (p.Thr479Pro) single nucleotide variant Pathogenic rs137852630 GRCh38 Chromosome 12, 52646774: 52646774
9 KRT2 NM_000423.2(KRT2): c.556A> T (p.Asn186Tyr) single nucleotide variant Pathogenic rs137852631 GRCh37 Chromosome 12, 53045371: 53045371
10 KRT2 NM_000423.2(KRT2): c.556A> T (p.Asn186Tyr) single nucleotide variant Pathogenic rs137852631 GRCh38 Chromosome 12, 52651587: 52651587
11 KRT2 NM_000423.2(KRT2): c.1426G> A (p.Glu476Lys) single nucleotide variant Pathogenic rs56829062 GRCh37 Chromosome 12, 53040567: 53040567
12 KRT2 NM_000423.2(KRT2): c.1426G> A (p.Glu476Lys) single nucleotide variant Pathogenic rs56829062 GRCh38 Chromosome 12, 52646783: 52646783
13 KRT2 NM_000423.2(KRT2): c.556A> G (p.Asn186Asp) single nucleotide variant Pathogenic rs137852631 GRCh37 Chromosome 12, 53045371: 53045371
14 KRT2 NM_000423.2(KRT2): c.556A> G (p.Asn186Asp) single nucleotide variant Pathogenic rs137852631 GRCh38 Chromosome 12, 52651587: 52651587
15 KRT2 NM_000423.2(KRT2): c.558C> A (p.Asn186Lys) single nucleotide variant Pathogenic rs137852632 GRCh37 Chromosome 12, 53045369: 53045369
16 KRT2 NM_000423.2(KRT2): c.558C> A (p.Asn186Lys) single nucleotide variant Pathogenic rs137852632 GRCh38 Chromosome 12, 52651585: 52651585
17 KRT2 NM_000423.2(KRT2): c.*411C> T single nucleotide variant Likely benign rs542479365 GRCh37 Chromosome 12, 53038392: 53038392
18 KRT2 NM_000423.2(KRT2): c.*411C> T single nucleotide variant Likely benign rs542479365 GRCh38 Chromosome 12, 52644608: 52644608
19 KRT2 NM_000423.2(KRT2): c.*354C> T single nucleotide variant Likely benign rs138563926 GRCh37 Chromosome 12, 53038449: 53038449
20 KRT2 NM_000423.2(KRT2): c.*354C> T single nucleotide variant Likely benign rs138563926 GRCh38 Chromosome 12, 52644665: 52644665
21 KRT2 NM_000423.2(KRT2): c.1720G> A (p.Gly574Arg) single nucleotide variant Uncertain significance rs139954107 GRCh37 Chromosome 12, 53039003: 53039003
22 KRT2 NM_000423.2(KRT2): c.1720G> A (p.Gly574Arg) single nucleotide variant Uncertain significance rs139954107 GRCh38 Chromosome 12, 52645219: 52645219
23 KRT2 NM_000423.2(KRT2): c.1650C> T (p.Gly550=) single nucleotide variant Benign rs2232562 GRCh38 Chromosome 12, 52645289: 52645289
24 KRT2 NM_000423.2(KRT2): c.1650C> T (p.Gly550=) single nucleotide variant Benign rs2232562 GRCh37 Chromosome 12, 53039073: 53039073
25 KRT2 NM_000423.2(KRT2): c.1281C> T (p.Ala427=) single nucleotide variant Likely benign rs143712313 GRCh38 Chromosome 12, 52646928: 52646928
26 KRT2 NM_000423.2(KRT2): c.1281C> T (p.Ala427=) single nucleotide variant Likely benign rs143712313 GRCh37 Chromosome 12, 53040712: 53040712
27 KRT2 NM_000423.2(KRT2): c.1272C> T (p.Ile424=) single nucleotide variant Likely benign rs753957075 GRCh38 Chromosome 12, 52646937: 52646937
28 KRT2 NM_000423.2(KRT2): c.1272C> T (p.Ile424=) single nucleotide variant Likely benign rs753957075 GRCh37 Chromosome 12, 53040721: 53040721
29 KRT2 NM_000423.2(KRT2): c.864C> T (p.Asp288=) single nucleotide variant Uncertain significance rs765620105 GRCh38 Chromosome 12, 52649100: 52649100
30 KRT2 NM_000423.2(KRT2): c.864C> T (p.Asp288=) single nucleotide variant Uncertain significance rs765620105 GRCh37 Chromosome 12, 53042884: 53042884
31 KRT2 NM_000423.2(KRT2): c.536G> A (p.Arg179His) single nucleotide variant Conflicting interpretations of pathogenicity rs202243677 GRCh38 Chromosome 12, 52651607: 52651607
32 KRT2 NM_000423.2(KRT2): c.536G> A (p.Arg179His) single nucleotide variant Conflicting interpretations of pathogenicity rs202243677 GRCh37 Chromosome 12, 53045391: 53045391
33 KRT2 NM_000423.2(KRT2): c.407G> A (p.Gly136Glu) single nucleotide variant Likely benign rs544732271 GRCh38 Chromosome 12, 52651736: 52651736
34 KRT2 NM_000423.2(KRT2): c.407G> A (p.Gly136Glu) single nucleotide variant Likely benign rs544732271 GRCh37 Chromosome 12, 53045520: 53045520
35 KRT2 NM_000423.2(KRT2): c.339C> T (p.Phe113=) single nucleotide variant Likely benign rs532474326 GRCh37 Chromosome 12, 53045588: 53045588
36 KRT2 NM_000423.2(KRT2): c.339C> T (p.Phe113=) single nucleotide variant Likely benign rs532474326 GRCh38 Chromosome 12, 52651804: 52651804
37 KRT2 NM_000423.2(KRT2): c.150C> T (p.Gly50=) single nucleotide variant Benign rs11835758 GRCh37 Chromosome 12, 53045777: 53045777
38 KRT2 NM_000423.2(KRT2): c.150C> T (p.Gly50=) single nucleotide variant Benign rs11835758 GRCh38 Chromosome 12, 52651993: 52651993
39 KRT2 NM_000423.2(KRT2): c.58C> T (p.Arg20Trp) single nucleotide variant Likely benign rs141817495 GRCh37 Chromosome 12, 53045869: 53045869
40 KRT2 NM_000423.2(KRT2): c.58C> T (p.Arg20Trp) single nucleotide variant Likely benign rs141817495 GRCh38 Chromosome 12, 52652085: 52652085
41 KRT2 NM_000423.2(KRT2): c.52G> A (p.Gly18Arg) single nucleotide variant Uncertain significance rs779454673 GRCh37 Chromosome 12, 53045875: 53045875
42 KRT2 NM_000423.2(KRT2): c.52G> A (p.Gly18Arg) single nucleotide variant Uncertain significance rs779454673 GRCh38 Chromosome 12, 52652091: 52652091
43 KRT2 NM_000423.2(KRT2): c.*447C> T single nucleotide variant Benign rs3825222 GRCh37 Chromosome 12, 53038356: 53038356
44 KRT2 NM_000423.2(KRT2): c.*447C> T single nucleotide variant Benign rs3825222 GRCh38 Chromosome 12, 52644572: 52644572
45 KRT2 NM_000423.2(KRT2): c.1478G> T (p.Gly493Val) single nucleotide variant Uncertain significance rs374913826 GRCh38 Chromosome 12, 52645561: 52645561
46 KRT2 NM_000423.2(KRT2): c.1478G> T (p.Gly493Val) single nucleotide variant Uncertain significance rs374913826 GRCh37 Chromosome 12, 53039345: 53039345
47 KRT2 NM_000423.2(KRT2): c.1355C> G (p.Ala452Gly) single nucleotide variant Uncertain significance rs747898157 GRCh38 Chromosome 12, 52646854: 52646854
48 KRT2 NM_000423.2(KRT2): c.1355C> G (p.Ala452Gly) single nucleotide variant Uncertain significance rs747898157 GRCh37 Chromosome 12, 53040638: 53040638
49 KRT2 NM_000423.2(KRT2): c.1249-7G> T single nucleotide variant Likely benign rs2232556 GRCh38 Chromosome 12, 52646967: 52646967
50 KRT2 NM_000423.2(KRT2): c.1249-7G> T single nucleotide variant Likely benign rs2232556 GRCh37 Chromosome 12, 53040751: 53040751

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 CSTA KRT1 KRT10 KRT2
2
Show member pathways
11.38 CSTA KRT1 KRT10 KRT2
3
Show member pathways
11.19 KRT1 KRT2

GO Terms for Ichthyosis Bullosa of Siemens

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.46 CSTA KRT1 KRT10 KRT2
2 keratin filament GO:0045095 9.26 KRT1 KRT2
3 intermediate filament GO:0005882 9.13 KRT1 KRT10 KRT2
4 cornified envelope GO:0001533 8.92 CSTA KRT1 KRT10 KRT2

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.43 KRT1 KRT10 KRT2
2 keratinocyte differentiation GO:0030216 9.37 CSTA KRT10
3 protein heterotetramerization GO:0051290 9.32 KRT1 KRT10
4 cornification GO:0070268 9.26 CSTA KRT1 KRT10 KRT2
5 positive regulation of epidermis development GO:0045684 9.16 KRT10 KRT2
6 peptide cross-linking GO:0018149 8.92 CSTA KRT1 KRT10 KRT2

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.26 CSTA KRT1 KRT10 KRT2
2 structural constituent of epidermis GO:0030280 8.8 KRT1 KRT10 KRT2

Sources for Ichthyosis Bullosa of Siemens

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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30 HGMD
31 HMDB
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62 PubMed
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