IBS
MCID: ICH002
MIFTS: 42

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 73 20 58 72 36 29 13 6 39
Ibs 57 20 72
Ichthyosis, Bullous Type 57 20
Superficial Epidermolytic Ichthyosis 58
Bullous Type of Ichthyosis 20
Ichthyosis Bullous Type 72
Sei 58

Characteristics:

Orphanet epidemiological data:

58
superficial epidermolytic ichthyosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
? same as erythroderma ichthyosiformis congenita of brocq (113800)


HPO:

31
ichthyosis bullosa of siemens:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 146800
KEGG 36 H00693
MeSH 44 D053560
MESH via Orphanet 45 D053560
ICD10 via Orphanet 33 Q80.8
UMLS via Orphanet 71 C0432306
Orphanet 58 ORPHA455
SNOMED-CT via HPO 68 239071005 254167000 263681008

Summaries for Ichthyosis Bullosa of Siemens

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 455 Definition Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth. Epidemiology Less than 30 families have been reported in the literature. Clinical description Clinical 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. Etiology SEI 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 methods Diagnosis 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 diagnosis Differential diagnosis includes epidermolytic ichthyosis, peeling skin syndrome, staphylococcal scalded skin syndrome, Alopecia- contractures -dwarfism- intellectual disability syndrome (see these terms), and atopic dermatitis. Antenatal diagnosis Genetic prenatal diagnosis is available for inherited ichthyoses (see this term) but it is generally not proposed for SEI due to its mild course. Genetic counseling Transmission 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 treatment Treatment 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. Prognosis SEI is usually a mild disease. Life expectancy is normal and quality of life is not severely impaired.

MalaCards based summary : Ichthyosis Bullosa of Siemens, also known as ibs, is related to epidermolytic hyperkeratosis and keratosis. 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 and heart, and related phenotypes are ichthyosis and palmoplantar keratoderma

OMIM® : 57 Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant congenital bullous ichthyosis without erythroderma. Blistering occurs in response to mild physical trauma and results in superficial erosion ('molting') of the outer skin, particularly on flexures, shins, and the periumbilical region. Keratin filament aggregates are seen by electron microscopy in the granular and upper spinous layers of the epidermis (summary by McLean et al., 1994). (146800) (Updated 20-May-2021)

KEGG : 36 Ichthyosis Bullosa of Siemens (IBS) is an autosomal dominant disorder characterized by mild hyperkeratosis and blister formation. The blistering is superficial, and areas of peeling of the skin are known as the 'Mauserung phenomenon'. IBS shows similar features to those in epidermolytic hyperkeratosis, but can be distinguished by the absence of erythema.

UniProtKB/Swiss-Prot : 72 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 : 73 Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin... more...

Related Diseases for Ichthyosis Bullosa of Siemens

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

(showing 156, show less)
# Related Disease Score Top Affiliating Genes
1 epidermolytic hyperkeratosis 31.9 KRT2 KRT10 KRT1
2 keratosis 31.1 KRT10 KRT1
3 autosomal dominant epidermolytic ichthyosis 31.0 KRT10 KRT1
4 exfoliative ichthyosis 30.5 KRT2 CSTA
5 ichthyosis 30.2 KRT2 KRT10 KRT1 CSTA
6 epidermolysis bullosa 29.9 KRT10 KRT1
7 epidermolysis bullosa simplex 29.9 KRT10 KRT1
8 keratinopathic ichthyosis 29.7 KRT2 KRT10 KRT1
9 skin disease 29.3 KRT10 KRT1 CSTA
10 psoriasis 28.7 KRT10 KRT1 CSTA
11 irritable bowel syndrome 11.8
12 peeling skin syndrome 4 11.8
13 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.9
14 constipation 10.8
15 diarrhea 10.6
16 overgrowth syndrome 10.5
17 inflammatory bowel disease 10.5
18 allergic disease 10.4
19 celiac disease 1 10.4
20 helix syndrome 10.3
21 gastroenteritis 10.3
22 ulcerative colitis 10.3
23 colitis 10.3
24 gastrointestinal system disease 10.3
25 functional diarrhea 10.3
26 fibromyalgia 10.3
27 gastroesophageal reflux 10.2
28 crohn's disease 10.2
29 peeling skin syndrome 10.2
30 hypertrichosis 10.2
31 subcorneal pustular dermatosis 10.2
32 erythrokeratoderma ''en cocardes'' 10.2
33 mastitis 10.2
34 staphyloenterotoxemia 10.2
35 anxiety 10.2
36 migraine with or without aura 1 10.1
37 microscopic colitis 10.1
38 panic disorder 10.1
39 dermatitis, atopic 10.1
40 dermatitis 10.1
41 disease by infectious agent 10.1
42 methane production 10.1
43 ischemic colitis 10.1
44 lactose intolerance 10.1
45 mood disorder 10.1
46 malaria 10.0
47 infective endocarditis 10.0
48 rapidly involuting congenital hemangioma 10.0
49 endocarditis 10.0
50 toxic shock syndrome 10.0
51 mucositis 10.0
52 mental depression 10.0
53 food allergy 10.0
54 depression 10.0
55 headache 10.0
56 steatocystoma multiplex 10.0 KRT2 KRT10
57 acanthoma 9.9 KRT10 KRT1
58 erythroderma, ichthyosiform, congenital reticular 9.9 KRT10 KRT1
59 striate palmoplantar keratoderma 9.9 KRT10 KRT1
60 ichthyosis, cyclic, with epidermolytic hyperkeratosis 9.9 KRT10 KRT1
61 rheumatoid arthritis 9.9
62 paine syndrome 9.9
63 major depressive disorder 9.9
64 major affective disorder 8 9.9
65 major affective disorder 9 9.9
66 pain agnosia 9.9
67 dysentery 9.9
68 exocrine pancreatic insufficiency 9.9
69 alcohol use disorder 9.9
70 bipolar disorder 9.9
71 somatoform disorder 9.9
72 colonic disease 9.9
73 severe combined immunodeficiency 9.9
74 arthritis 9.9
75 chronic fatigue syndrome 9.9
76 cytokine deficiency 9.9
77 chronic pain 9.9
78 white sponge nevus 1 9.9 KRT2 KRT1
79 skin papilloma 9.9 KRT10 KRT1
80 papilloma 9.9 KRT10 KRT1
81 ichthyosis, congenital, autosomal recessive 4b 9.9 KRT2 KRT1
82 ichthyosis vulgaris 9.9 KRT10 KRT1
83 ovarian cancer 9.9
84 triiodothyronine receptor auxiliary protein 9.9
85 mycobacterium tuberculosis 1 9.9
86 dengue virus 9.9
87 mild cognitive impairment 9.9
88 rabies 9.9
89 gingival recession 9.9
90 dengue disease 9.9
91 dementia 9.9
92 melanoma 9.9
93 pulmonary tuberculosis 9.9
94 palmoplantar keratosis 9.9 KRT10 KRT1
95 erythrokeratodermia variabilis et progressiva 1 9.8 KRT10 KRT1
96 lichen planus 9.8 KRT10 KRT1
97 hepatocellular carcinoma 9.8
98 ige responsiveness, atopic 9.8
99 enterocolitis 9.8
100 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
101 proteasome-associated autoinflammatory syndrome 1 9.8
102 gallbladder disease 1 9.8
103 asthma 9.8
104 resting heart rate, variation in 9.8
105 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
106 barrett esophagus 9.8
107 early infantile epileptic encephalopathy 9.8
108 crohn's colitis 9.8
109 respiratory allergy 9.8
110 cow milk allergy 9.8
111 angioimmunoblastic t-cell lymphoma 9.8
112 developmental and epileptic encephalopathy 9.8
113 exhibitionism 9.8
114 tropical sprue 9.8
115 separation anxiety disorder 9.8
116 pertussis 9.8
117 chondrocalcinosis 9.8
118 gastroparesis 9.8
119 esophagitis 9.8
120 low compliance bladder 9.8
121 pancytopenia 9.8
122 hypochondriasis 9.8
123 generalized anxiety disorder 9.8
124 hereditary angioedema 9.8
125 angioedema 9.8
126 hyperostosis 9.8
127 post-traumatic stress disorder 9.8
128 angiodysplasia 9.8
129 myoma 9.8
130 acute pancreatitis 9.8
131 wheat allergy 9.8
132 pustulosis of palm and sole 9.8
133 pancreatitis 9.8
134 sleep disorder 9.8
135 diffuse idiopathic skeletal hyperostosis 9.8
136 premenstrual tension 9.8
137 diverticulitis 9.8
138 intestinal obstruction 9.8
139 herpes simplex 9.8
140 eating disorder 9.8
141 stomatitis 9.8
142 aphthous stomatitis 9.8
143 hemorrhoid 9.8
144 hypereosinophilic syndrome 9.8
145 bap1 tumor predisposition syndrome 9.8
146 autonomic dysfunction 9.8
147 ohtahara syndrome 9.8
148 inflammatory myopathy with abundant macrophages 9.8
149 pik3ca-related overgrowth syndrome 9.8
150 integumentary system disease 9.7 KRT10 KRT1
151 epidermolytic acanthoma 9.7 KRT2 KRT10 KRT1
152 palmoplantar keratoderma, epidermolytic 9.7 KRT2 KRT10 KRT1
153 pachyonychia congenita 1 9.7 KRT2 KRT10 KRT1
154 nevus, epidermal 9.7 KRT2 KRT10 KRT1
155 autosomal recessive congenital ichthyosis 9.6 KRT2 KRT10 KRT1
156 dyskeratosis congenita 9.6 KRT10 KRT1

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

Human phenotypes related to Ichthyosis Bullosa of Siemens:

58 31 (showing 8, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 58 Very frequent (99-80%)
2 palmoplantar keratoderma 58 Very frequent (99-80%)
3 erythema 58 Occasional (29-5%)
4 abnormal blistering of the skin 58 Very frequent (99-80%)
5 edema 58 Very frequent (99-80%)
6 acantholysis 58 Very frequent (99-80%)
7 thin skin 58 Very frequent (99-80%)
8 congenital bullous ichthyosiform erythroderma 31 HP:0007475

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin:
bullous ichthyosis

Clinical features from OMIM®:

146800 (Updated 20-May-2021)

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:

40
Skin, Heart

Publications for Ichthyosis Bullosa of Siemens

Articles related to Ichthyosis Bullosa of Siemens:

(showing 53, show less)
# Title Authors PMID Year
1
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. 61 57 6
8077693 1994
2
Ichthyosis bullosa of Siemens--a disease involving keratin 2e. 61 6 57
7521371 1994
3
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. 61 57 6
7524919 1994
4
Autosomal dominant ichthyosis exfoliativa. 6 57
2004005 1991
5
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 6 61
11531804 2001
6
A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. 6 61
10620137 2000
7
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature. 6 61
10233323 1999
8
Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. 6 61
9804344 1998
9
A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens. 61 6
9204966 1997
10
Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. 57 61
7521372 1994
11
Ichthyosis bullosa of Siemens: further delineation of the phenotype. 57 61
2138447 1990
12
Ichthyosis bullosa of Siemens: a unique type of epidermolytic hyperkeratosis. 57 61
3522665 1986
13
Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation. 6
1380918 1992
14
Inherited ichthyoses. 57
4247927 1970
15
Epidermolytic epidermal nevus caused by a somatic mutation in KRT2. 61
33555633 2021
16
The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra-Deep Sequence. 61
32881395 2020
17
Mutations in KRT10 in epidermolytic acanthoma. 61
32045015 2020
18
Superficial epidermolytic ichthyosis: a report of two families. 61
22612346 2013
19
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1. 61
23623204 2013
20
Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings. 61
22930352 2013
21
Ichthyosis bullosa of Siemens. 61
23091584 2012
22
Keratin gene mutations in disorders of human skin and its appendages. 61
21176769 2011
23
Lifelong scaling and blistering in a family. 61
21510005 2010
24
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. 61
18571597 2008
25
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. 61
17970808 2008
26
A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens. 61
17408392 2007
27
Ichthyosis bullosa of Siemens: response to topical tazarotene. 61
16481710 2006
28
Stratum corneum hydration and flexibility are useful parameters to indicate clinical severity of congenital ichthyosis. 61
16026584 2005
29
Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. 61
15949009 2005
30
The keratins and their disorders. 61
15452838 2004
31
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13. 61
12890214 2003
32
Ichthyosis bullosa of Siemens. 61
12657765 2003
33
The molecular genetics of keratin disorders. 61
12688839 2003
34
A new variant of autosomal recessive exfoliative ichthyosis. 61
12383092 2002
35
Sporadic case of ichthyosis bullosa of Siemens. 61
11982577 2002
36
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. 61
11167982 2000
37
Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. 61
10688369 2000
38
Effect of topical tazarotene in the treatment of congenital ichthyoses. 61
10583110 1999
39
Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene. 61
10564334 1999
40
Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. 61
10354017 1999
41
A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. 61
10084318 1999
42
Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis. 61
10098704 1999
43
Ichthyosis bullosa of Siemens: a topical therapy option. 61
10052422 1999
44
A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens. 61
9833038 1998
45
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. 61
9036937 1997
46
A new keratin 2e mutation in ichthyosis bullosa of Siemens. 61
9036938 1997
47
Human keratin diseases: hereditary fragility of specific epithelial tissues. 61
9028791 1996
48
Flow-cytometric investigation of epidermal cell characteristics in monogenic disorders of keratinization and their modulation by topical calcipotriol treatment. 61
8740259 1996
49
The molecular basis for inherited bullous diseases. 61
8820401 1996
50
Ichthyosis bullosa of Siemens: report of a sporadic case. 61
7608386 1995
51
Annular epidermolytic ichthyosis: a unique phenotype. 61
1517502 1992
52
Ichthyosis bullosa of Siemens responds well to low-dosage oral retinoids. 61
1836350 1991
53
Ichthyosis bullosa of Siemens and bullous ichthyosiform erythroderma--variants of the same disease? 61
2178822 1990

Variations for Ichthyosis Bullosa of Siemens

ClinVar genetic disease variations for Ichthyosis Bullosa of Siemens:

6 (showing 80, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT2 NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp) SNV Pathogenic 9309 rs137852628 GRCh37: 12:53040532-53040532
GRCh38: 12:52646748-52646748
2 KRT2 NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) SNV Pathogenic 9310 rs137852629 GRCh37: 12:53040534-53040534
GRCh38: 12:52646750-52646750
3 KRT2 NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) SNV Pathogenic 9310 rs137852629 GRCh37: 12:53040534-53040534
GRCh38: 12:52646750-52646750
4 KRT2 NM_000423.3(KRT2):c.542A>C (p.Gln181Pro) SNV Pathogenic 9311 rs57510142 GRCh37: 12:53045385-53045385
GRCh38: 12:52651601-52651601
5 KRT2 NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro) SNV Pathogenic 9312 rs137852630 GRCh37: 12:53040558-53040558
GRCh38: 12:52646774-52646774
6 KRT2 NM_000423.3(KRT2):c.556A>T (p.Asn186Tyr) SNV Pathogenic 9313 rs137852631 GRCh37: 12:53045371-53045371
GRCh38: 12:52651587-52651587
7 KRT2 NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys) SNV Pathogenic 9314 rs56829062 GRCh37: 12:53040567-53040567
GRCh38: 12:52646783-52646783
8 KRT2 NM_000423.3(KRT2):c.556A>G (p.Asn186Asp) SNV Pathogenic 9315 rs137852631 GRCh37: 12:53045371-53045371
GRCh38: 12:52651587-52651587
9 KRT2 NM_000423.3(KRT2):c.558C>A (p.Asn186Lys) SNV Pathogenic 9316 rs137852632 GRCh37: 12:53045369-53045369
GRCh38: 12:52651585-52651585
10 KRT2 NM_000423.3(KRT2):c.301delinsGGCTTTGGAGGCGGCAGCG (p.Ser101delinsGlyPheGlyGlyGlySerGly) Indel Uncertain significance 309622 rs886049632 GRCh37: 12:53045626-53045626
GRCh38: 12:52651842-52651842
11 KRT2 NM_000423.3(KRT2):c.*289C>A SNV Uncertain significance 309588 rs886049629 GRCh37: 12:53038514-53038514
GRCh38: 12:52644730-52644730
12 KRT2 NM_000423.3(KRT2):c.768C>T (p.Asn256=) SNV Uncertain significance 309614 rs886049631 GRCh37: 12:53044155-53044155
GRCh38: 12:52650371-52650371
13 KRT2 NM_000423.3(KRT2):c.1869G>T (p.Lys623Asn) SNV Uncertain significance 309594 rs766846917 GRCh37: 12:53038854-53038854
GRCh38: 12:52645070-52645070
14 KRT2 NM_000423.3(KRT2):c.633G>A (p.Glu211=) SNV Uncertain significance 309617 rs755185776 GRCh37: 12:53044290-53044290
GRCh38: 12:52650506-52650506
15 KRT2 NM_000423.3(KRT2):c.1355C>G (p.Ala452Gly) SNV Uncertain significance 309603 rs747898157 GRCh37: 12:53040638-53040638
GRCh38: 12:52646854-52646854
16 KRT2 NM_000423.3(KRT2):c.*301G>A SNV Uncertain significance 309586 rs886049628 GRCh37: 12:53038502-53038502
GRCh38: 12:52644718-52644718
17 KRT2 NM_000423.3(KRT2):c.864C>T (p.Asp288=) SNV Uncertain significance 309612 rs765620105 GRCh37: 12:53042884-53042884
GRCh38: 12:52649100-52649100
18 KRT2 NM_000423.3(KRT2):c.*248C>T SNV Uncertain significance 309590 rs539170994 GRCh37: 12:53038555-53038555
GRCh38: 12:52644771-52644771
19 KRT2 NM_000423.3(KRT2):c.1829G>T (p.Gly610Val) SNV Uncertain significance 309595 rs886049630 GRCh37: 12:53038894-53038894
GRCh38: 12:52645110-52645110
20 KRT2 NM_000423.3(KRT2):c.1051G>A (p.Glu351Lys) SNV Uncertain significance 309610 rs751634621 GRCh37: 12:53042028-53042028
GRCh38: 12:52648244-52648244
21 KRT2 NM_000423.3(KRT2):c.52G>A (p.Gly18Arg) SNV Uncertain significance 309630 rs779454673 GRCh37: 12:53045875-53045875
GRCh38: 12:52652091-52652091
22 KRT2 NM_000423.3(KRT2):c.346G>C (p.Gly116Arg) SNV Uncertain significance 881005 GRCh37: 12:53045581-53045581
GRCh38: 12:52651797-52651797
23 KRT2 NM_000423.3(KRT2):c.*438A>G SNV Uncertain significance 882264 GRCh37: 12:53038365-53038365
GRCh38: 12:52644581-52644581
24 KRT2 NM_000423.3(KRT2):c.*346A>T SNV Uncertain significance 882527 GRCh37: 12:53038457-53038457
GRCh38: 12:52644673-52644673
25 KRT2 NM_000423.3(KRT2):c.*324C>T SNV Uncertain significance 882528 GRCh37: 12:53038479-53038479
GRCh38: 12:52644695-52644695
26 KRT2 NM_000423.3(KRT2):c.*322G>C SNV Uncertain significance 882529 GRCh37: 12:53038481-53038481
GRCh38: 12:52644697-52644697
27 KRT2 NM_000423.3(KRT2):c.*302T>C SNV Uncertain significance 882530 GRCh37: 12:53038501-53038501
GRCh38: 12:52644717-52644717
28 KRT2 NM_000423.3(KRT2):c.*263C>T SNV Uncertain significance 883312 GRCh37: 12:53038540-53038540
GRCh38: 12:52644756-52644756
29 KRT2 NM_000423.3(KRT2):c.*125T>G SNV Uncertain significance 883313 GRCh37: 12:53038678-53038678
GRCh38: 12:52644894-52644894
30 KRT2 NM_000423.3(KRT2):c.800+9C>G SNV Uncertain significance 883364 GRCh37: 12:53044114-53044114
GRCh38: 12:52650330-52650330
31 KRT2 NM_000423.3(KRT2):c.290G>A (p.Gly97Glu) SNV Uncertain significance 882362 GRCh37: 12:53045637-53045637
GRCh38: 12:52651853-52651853
32 KRT2 NM_000423.3(KRT2):c.546C>A (p.Ile182=) SNV Likely benign 883366 GRCh37: 12:53045381-53045381
GRCh38: 12:52651597-52651597
33 KRT2 NM_000423.3(KRT2):c.134G>A (p.Arg45His) SNV Likely benign 309627 rs149447253 GRCh37: 12:53045793-53045793
GRCh38: 12:52652009-52652009
34 KRT2 NM_000423.3(KRT2):c.294C>T (p.Gly98=) SNV Likely benign 309624 rs182369139 GRCh37: 12:53045633-53045633
GRCh38: 12:52651849-52651849
35 KRT2 NM_000423.3(KRT2):c.*216G>A SNV Likely benign 309591 rs139377296 GRCh37: 12:53038587-53038587
GRCh38: 12:52644803-52644803
36 KRT2 NM_000423.3(KRT2):c.1719C>T (p.Tyr573=) SNV Likely benign 309597 rs141769548 GRCh37: 12:53039004-53039004
GRCh38: 12:52645220-52645220
37 KRT2 NM_000423.2(KRT2):c.*466A>C SNV Likely benign 369021 rs188447443 GRCh37: 12:53038337-53038337
GRCh38: 12:52644553-52644553
38 KRT2 NM_000423.3(KRT2):c.1373G>A (p.Arg458Gln) SNV Likely benign 309602 rs755662199 GRCh37: 12:53040620-53040620
GRCh38: 12:52646836-52646836
39 KRT2 NM_000423.3(KRT2):c.1204G>A (p.Val402Met) SNV Likely benign 309608 rs756976713 GRCh37: 12:53041558-53041558
GRCh38: 12:52647774-52647774
40 KRT2 NM_000423.3(KRT2):c.1720G>A (p.Gly574Arg) SNV Likely benign 309596 rs139954107 GRCh37: 12:53039003-53039003
GRCh38: 12:52645219-52645219
41 KRT2 NM_000423.3(KRT2):c.1550C>G (p.Ala517Gly) SNV Benign 309599 rs35043606 GRCh37: 12:53039173-53039173
GRCh38: 12:52645389-52645389
42 KRT2 NM_000423.3(KRT2):c.407G>A (p.Gly136Glu) SNV Benign 309619 rs544732271 GRCh37: 12:53045520-53045520
GRCh38: 12:52651736-52651736
43 KRT2 NM_000423.3(KRT2):c.168C>T (p.Gly56=) SNV Benign 309625 rs637247 GRCh37: 12:53045759-53045759
GRCh38: 12:52651975-52651975
44 KRT2 NM_000423.3(KRT2):c.1281C>T (p.Ala427=) SNV Benign 309605 rs143712313 GRCh37: 12:53040712-53040712
GRCh38: 12:52646928-52646928
45 KRT2 NM_000423.3(KRT2):c.*335A>G SNV Benign 309585 rs141659798 GRCh37: 12:53038468-53038468
GRCh38: 12:52644684-52644684
46 KRT2 NM_000423.3(KRT2):c.656G>A (p.Gly219Asp) SNV Benign 309616 rs638043 GRCh37: 12:53044267-53044267
GRCh38: 12:52650483-52650483
47 KRT2 NM_000423.3(KRT2):c.133C>T (p.Arg45Cys) SNV Benign 309628 rs202186833 GRCh37: 12:53045794-53045794
GRCh38: 12:52652010-52652010
48 KRT2 NM_000423.3(KRT2):c.*447C>T SNV Benign 309582 rs3825222 GRCh37: 12:53038356-53038356
GRCh38: 12:52644572-52644572
49 KRT2 NM_000423.3(KRT2):c.940A>G (p.Lys314Glu) SNV Benign 309611 rs139316403 GRCh37: 12:53042808-53042808
GRCh38: 12:52649024-52649024
50 KRT2 NM_000423.3(KRT2):c.*411C>T SNV Benign 309583 rs542479365 GRCh37: 12:53038392-53038392
GRCh38: 12:52644608-52644608
51 KRT2 NM_000423.3(KRT2):c.301A>G (p.Ser101Gly) SNV Benign 309623 rs2634041 GRCh37: 12:53045626-53045626
GRCh38: 12:52651842-52651842
52 KRT2 NM_000423.3(KRT2):c.348C>T (p.Gly116=) SNV Benign 309620 rs145263416 GRCh37: 12:53045579-53045579
GRCh38: 12:52651795-52651795
53 KRT2 NM_000423.3(KRT2):c.1500T>C (p.Thr500=) SNV Benign 309600 rs142620105 GRCh37: 12:53039323-53039323
GRCh38: 12:52645539-52645539
54 KRT2 NM_000423.3(KRT2):c.1650C>T (p.Gly550=) SNV Benign 309598 rs2232562 GRCh37: 12:53039073-53039073
GRCh38: 12:52645289-52645289
55 KRT2 NM_000423.3(KRT2):c.*215C>T SNV Benign 309592 rs117041267 GRCh37: 12:53038588-53038588
GRCh38: 12:52644804-52644804
56 KRT2 NM_000423.3(KRT2):c.58C>T (p.Arg20Trp) SNV Benign 309629 rs141817495 GRCh37: 12:53045869-53045869
GRCh38: 12:52652085-52652085
57 KRT2 NM_000423.3(KRT2):c.1203C>T (p.Arg401=) SNV Benign 309609 rs375452938 GRCh37: 12:53041559-53041559
GRCh38: 12:52647775-52647775
58 KRT2 NM_000423.3(KRT2):c.150C>T (p.Gly50=) SNV Benign 309626 rs11835758 GRCh37: 12:53045777-53045777
GRCh38: 12:52651993-52651993
59 KRT2 NM_000423.3(KRT2):c.*279T>C SNV Benign 309589 rs146357787 GRCh37: 12:53038524-53038524
GRCh38: 12:52644740-52644740
60 KRT2 NM_000423.3(KRT2):c.1272C>T (p.Ile424=) SNV Benign 309606 rs753957075 GRCh37: 12:53040721-53040721
GRCh38: 12:52646937-52646937
61 KRT2 NM_000423.3(KRT2):c.1289G>A (p.Arg430His) SNV Benign 309604 rs2232557 GRCh37: 12:53040704-53040704
GRCh38: 12:52646920-52646920
62 KRT2 NM_000423.3(KRT2):c.339C>T (p.Phe113=) SNV Benign 309621 rs532474326 GRCh37: 12:53045588-53045588
GRCh38: 12:52651804-52651804
63 KRT2 NM_000423.3(KRT2):c.*354C>T SNV Benign 309584 rs138563926 GRCh37: 12:53038449-53038449
GRCh38: 12:52644665-52644665
64 KRT2 NM_000423.3(KRT2):c.1478G>T (p.Gly493Val) SNV Benign 309601 rs374913826 GRCh37: 12:53039345-53039345
GRCh38: 12:52645561-52645561
65 KRT2 NM_000423.3(KRT2):c.861+6C>G SNV Benign 309613 rs556825530 GRCh37: 12:53043692-53043692
GRCh38: 12:52649908-52649908
66 KRT2 NM_000423.3(KRT2):c.*42T>C SNV Benign 309593 rs2232563 GRCh37: 12:53038761-53038761
GRCh38: 12:52644977-52644977
67 KRT2 NM_000423.3(KRT2):c.*300T>C SNV Benign 309587 rs58532645 GRCh37: 12:53038503-53038503
GRCh38: 12:52644719-52644719
68 KRT2 NM_000423.3(KRT2):c.1699G>A (p.Gly567Ser) SNV Benign 880953 GRCh37: 12:53039024-53039024
GRCh38: 12:52645240-52645240
69 KRT2 NM_000423.3(KRT2):c.1698C>T (p.Gly566=) SNV Benign 880954 GRCh37: 12:53039025-53039025
GRCh38: 12:52645241-52645241
70 KRT2 NM_000423.3(KRT2):c.492C>T (p.Asn164=) SNV Benign 881003 GRCh37: 12:53045435-53045435
GRCh38: 12:52651651-52651651
71 KRT2 NM_000423.3(KRT2):c.474C>T (p.Ser158=) SNV Benign 881004 GRCh37: 12:53045453-53045453
GRCh38: 12:52651669-52651669
72 KRT2 NM_000423.3(KRT2):c.1249-7G>T SNV Benign 309607 rs2232556 GRCh37: 12:53040751-53040751
GRCh38: 12:52646967-52646967
73 KRT2 NM_000423.3(KRT2):c.767A>G (p.Asn256Ser) SNV Benign 309615 rs144222539 GRCh37: 12:53044156-53044156
GRCh38: 12:52650372-52650372
74 KRT2 NM_000423.3(KRT2):c.536G>A (p.Arg179His) SNV Benign 309618 rs202243677 GRCh37: 12:53045391-53045391
GRCh38: 12:52651607-52651607
75 KRT2 NM_000423.3(KRT2):c.100C>T (p.Arg34Trp) SNV Benign 779152 rs35460418 GRCh37: 12:53045827-53045827
GRCh38: 12:52652043-52652043
76 KRT2 NM_000423.3(KRT2):c.589C>A (p.Arg197=) SNV Benign 883365 GRCh37: 12:53044334-53044334
GRCh38: 12:52650550-52650550
77 KRT2 NM_000423.3(KRT2):c.1147G>A (p.Gly383Arg) SNV Benign 882579 GRCh37: 12:53041615-53041615
GRCh38: 12:52647831-52647831
78 KRT2 NM_000423.3(KRT2):c.823C>G (p.Arg275Gly) SNV Benign 882580 GRCh37: 12:53043736-53043736
GRCh38: 12:52649952-52649952
79 KRT2 NM_000423.3(KRT2):c.1249-4A>G SNV Benign 882313 GRCh37: 12:53040748-53040748
GRCh38: 12:52646964-52646964
80 KRT2 NM_000423.3(KRT2):c.317G>A (p.Ser106Asn) SNV Benign 714340 rs74660757 GRCh37: 12:53045610-53045610
GRCh38: 12:52651826-52651826

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

72 (showing 15, show less)
# 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

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:

(showing 3, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 KRT2 KRT10 KRT1 CSTA
2
Show member pathways
11.38 KRT2 KRT10 KRT1 CSTA
3
Show member pathways
11.19 KRT2 KRT1

GO Terms for Ichthyosis Bullosa of Siemens

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

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

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

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# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.5 KRT2 KRT10 KRT1
2 keratinocyte differentiation GO:0030216 9.37 KRT10 CSTA
3 protein heterotetramerization GO:0051290 9.26 KRT10 KRT1
4 cornification GO:0070268 9.26 KRT2 KRT10 KRT1 CSTA
5 positive regulation of epidermis development GO:0045684 9.16 KRT2 KRT10
6 peptide cross-linking GO:0018149 8.92 KRT2 KRT10 KRT1 CSTA

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

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 structural constituent of epidermis GO:0030280 8.8 KRT2 KRT10 KRT1

Sources for Ichthyosis Bullosa of Siemens

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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