EI
MCID: EPD065
MIFTS: 37

Epidermolytic Ichthyosis (EI) malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Epidermolytic Ichthyosis

Aliases & Descriptions for Epidermolytic Ichthyosis:

Name: Epidermolytic Ichthyosis 50 56
Bullous Congenital Ichthyosiform Erythroderma 50 56
Congenital Bullous Ichthyosiform Erythroderma 50 29
Epidermolytic Hyperkeratosis 50 56
Bcie 50 56
Ehk 50 56
Bullous Erythroderma Ichthyosiformis Congenita of Brocq 50
Bullous Congenital Ichthyosiform Erythroderma of Brock 56
Bullous Ichthyosiform Erythroderma Congenita 50
Bullous Ichthyosiform Erythroderma 50
Hyperkeratosis, Epidermolytic 69
Bullous Ichthyosis 56
Ei 56

Characteristics:

Orphanet epidemiological data:

56
epidermolytic ichthyosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Neonatal;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

Orphanet 56 ORPHA312
UMLS via Orphanet 70 C0079153
ICD10 via Orphanet 34 Q80.3
ICD10 33 Q80.3

Summaries for Epidermolytic Ichthyosis

NIH Rare Diseases : 50 epidermolytic ichthyosis (ei) is a rare, genetic skin disorder. it becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. hyperkeratosis (thickening of the skin) develops within months and worsens over time. blister formation decreases, but may still occur after skin trauma or during summer months. skin can be itchy and smelly, and prone to infection. other features may include reduced sweating; nail abnormalities; and in severe cases, growth failure. ei is caused by changes (mutations) in the krt1 or krt10 genes. about half of cases are due to new mutations and are not inherited from a parent (sporadic). other cases are usually inherited in an autosomal dominant manner, and rarely, in an autosomal recessive manner. treatment aims at alleviating and preventing symptoms and may include topical moisturizers or medications, and antiseptic washes. last updated: 2/24/2016

MalaCards based summary : Epidermolytic Ichthyosis, also known as bullous congenital ichthyosiform erythroderma, is related to eys-related retinitis pigmentosa and epidermolytic hyperkeratosis, and has symptoms including scaly skin An important gene associated with Epidermolytic Ichthyosis is KRT10 (Keratin 10), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Immunoglobulins and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin.

CDC : 3 EIS Officer Tushar Singh contributes to CDC's work in reducing youth exposure to e-cigarettes in a January 2016 CDC Vital Signs article.

Related Diseases for Epidermolytic Ichthyosis

Diseases related to Epidermolytic Ichthyosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)
id Related Disease Score Top Affiliating Genes
1 eys-related retinitis pigmentosa 11.8
2 epidermolytic hyperkeratosis 11.3
3 ichthyosis bullosa of siemens 11.1
4 ichthyosis, cyclic, with epidermolytic hyperkeratosis 11.1
5 exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like 10.9
6 estrogen resistance 10.9
7 retinitis pigmentosa 25 10.8
8 esotropia 10.8
9 ichthyosis 10.6
10 internuclear ophthalmoplegia 10.2
11 bradyopsia 10.1 KRT1 KRT10
12 erdheim-chester disease 10.1 KRT1 KRT10
13 palmoplantar keratoderma, nonepidermolytic 10.1 KRT1 KRT10
14 ciliary dyskinesia, primary, 1, with or without situs inversus 10.1 KRT1 KRT10
15 squamous cell carcinoma 10.1 KRT1 KRT10
16 subglottis verrucous carcinoma 10.1 KRT1 KRT10
17 retinitis pigmentosa 10.1
18 retinitis 10.1
19 mixed cell adenoma 10.1 KRT1 KRT10
20 keratosis palmoplantaris striata iii 10.1 KRT1 KRT10
21 insulinoma 10.1 FLG KRT10
22 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 10.1 KRT1 KRT10
23 congenital ichthyosiform erythroderma 10.1
24 brachydactyly small stature face anomalies 10.1 FLG KRT10
25 pneumonia caused by pseudomonas aeruginosa infection 10.1 FLG KRT1
26 familial acute necrotizing encephalopathy 10.0 FLG KRT10
27 chondrodysplasia punctata, x-linked recessive 10.0 FLG KRT10
28 carotid artery thrombosis 10.0 KRT1 KRT10
29 preauricular tag, isolated, autosomal dominant, 1 10.0 FLG KRT10
30 dermatitis, atopic 2 10.0 FLG KRT1
31 malignant spindle cell melanoma 10.0 FLG KRT10
32 progressive myoclonus epilepsy 10.0 CSTA FLG
33 vascular dementia 10.0 FLG KRT10
34 albinism 10.0
35 breast leiomyoma 10.0 FLG KRT10
36 neonatal marfan syndrome 10.0 CSTA KRT2
37 autosomal dominant nocturnal frontal lobe epilepsy 9.9 FLG KRT10
38 atrophic gastritis 9.9 FLG KRT10
39 mast-cell leukemia 9.9 FLG KRT10
40 oculocutaneous albinism 9.9
41 thymus mucoepidermoid carcinoma 9.9 FLG KRT1 KRT10
42 cole-carpenter syndrome 1 9.9 FLG KRT1 KRT10
43 intraocular retinoblastoma 9.9 FLG KRT1 KRT10
44 autonomic nervous system neoplasm 9.9 FLG KRT1 KRT10
45 solitary bone cyst 9.9 FLG KRT1 KRT10
46 skin atrophy 9.9 KRT1 KRT10
47 tuberculosis 9.8
48 hyperostosis 9.8
49 hypertrichosis 9.8
50 diffuse idiopathic skeletal hyperostosis 9.8

Graphical network of the top 20 diseases related to Epidermolytic Ichthyosis:



Diseases related to Epidermolytic Ichthyosis

Symptoms & Phenotypes for Epidermolytic Ichthyosis

UMLS symptoms related to Epidermolytic Ichthyosis:


scaly skin

Drugs & Therapeutics for Epidermolytic Ichthyosis

Drugs for Epidermolytic Ichthyosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 2
2 Antibodies, Monoclonal Phase 2
3 Antibodies Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2
2 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685

Search NIH Clinical Center for Epidermolytic Ichthyosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Epidermolytic Ichthyosis

Genetic tests related to Epidermolytic Ichthyosis:

id Genetic test Affiliating Genes
1 Congenital Bullous Ichthyosiform Erythroderma 29

Anatomical Context for Epidermolytic Ichthyosis

MalaCards organs/tissues related to Epidermolytic Ichthyosis:

39
Skin

Publications for Epidermolytic Ichthyosis

Articles related to Epidermolytic Ichthyosis:

(show all 30)
id Title Authors Year
1
A case of epidermolytic ichthyosis showing a very mild phenotype due to a novel tail extension mutation in KRT10. ( 27225831 )
2016
2
Management of Epidermolytic Ichthyosis in the Newborn. ( 26842536 )
2016
3
Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis. ( 27601192 )
2016
4
Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma. ( 27617465 )
2016
5
Linear epidermolytic ichthyosis: detection of granular degeneration with shrinking nuclei showing focal parakeratosis. ( 26872854 )
2016
6
A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family. ( 25808222 )
2015
7
Superficial epidermolytic ichthyosis. ( 26087083 )
2015
8
Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis. ( 26176760 )
2015
9
Superficial epidermolytic ichthyosis. ( 26515868 )
2015
10
Coxsackie eruption arising in areas of epidermolytic ichthyosis. ( 25781352 )
2015
11
Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10. ( 26338057 )
2015
12
Superficial epidermolytic ichthyosis caused by a novel KRT2 mutation. ( 25979451 )
2015
13
Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. ( 25751346 )
2015
14
Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1. ( 26120802 )
2015
15
Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in KRT10. ( 24720725 )
2014
16
Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis. ( 24096702 )
2014
17
Successful topical adapalene treatment for the facial lesions of an adolescent case of epidermolytic ichthyosis. ( 25128122 )
2014
18
Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family. ( 25214791 )
2014
19
Mosaic epidermolytic ichthyosis--case report. ( 24346896 )
2013
20
Superficial epidermolytic ichthyosis: a report of two families. ( 22612346 )
2013
21
A Novel non-sense Mutation in Keratin 10 Causes a Familial Case of Recessive Epidermolytic Ichthyosis. ( 23957016 )
2013
22
Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings. ( 22930352 )
2013
23
Semidominant inheritance in epidermolytic ichthyosis. ( 23604102 )
2013
24
Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia. ( 22035476 )
2012
25
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis. ( 21271994 )
2011
26
Subcorneal hematoma in superficial epidermolytic ichthyosis mimicking a melanocytic pigmented lesion. ( 21768055 )
2011
27
A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis. ( 20500210 )
2010
28
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. ( 9856845 )
1998
29
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. ( 9036939 )
1997
30
Filaggrin expression in epidermolytic ichthyosis (epidermolytic hyperkeratosis). ( 7531997 )
1994

Variations for Epidermolytic Ichthyosis

ClinVar genetic disease variations for Epidermolytic Ichthyosis:

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT10 KRT10, ARG10HIS single nucleotide variant Pathogenic
2 KRT10 NM_000421.3(KRT10): c.482T> C (p.Leu161Ser) single nucleotide variant Pathogenic rs60118264 GRCh37 Chromosome 17, 38978356: 38978356
3 KRT10 KRT10, ARG10LEU undetermined variant Pathogenic
4 KRT10 NM_000421.3(KRT10): c.460A> C (p.Asn154His) single nucleotide variant Pathogenic rs57784225 GRCh37 Chromosome 17, 38978378: 38978378
5 KRT10 NM_000421.3(KRT10): c.478T> G (p.Tyr160Asp) single nucleotide variant Pathogenic rs58414354 GRCh37 Chromosome 17, 38978360: 38978360
6 KRT10 NM_000421.3(KRT10): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs58075662 GRCh37 Chromosome 17, 38978371: 38978371
7 KRT10 KRT10, ARG10CYS undetermined variant Pathogenic
8 KRT10 NM_000421.3(KRT10): c.1325T> A (p.Leu442Gln) single nucleotide variant Pathogenic rs58026994 GRCh37 Chromosome 17, 38975817: 38975817
9 KRT10 NM_000421.3(KRT10): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs58852768 GRCh37 Chromosome 17, 38978372: 38978372
10 KRT10 NM_000421.3(KRT10): c.449T> G (p.Met150Arg) single nucleotide variant Pathogenic rs58901407 GRCh37 Chromosome 17, 38978389: 38978389
11 KRT10 NM_000421.3(KRT10): c.1315A> G (p.Lys439Glu) single nucleotide variant Pathogenic rs61434181 GRCh37 Chromosome 17, 38975827: 38975827
12 KRT10 NM_000421.3(KRT10): c.449T> C (p.Met150Thr) single nucleotide variant Pathogenic rs58901407 GRCh37 Chromosome 17, 38978389: 38978389
13 KRT1 NM_006121.3(KRT1): c.931G> C (p.Glu311Gln) single nucleotide variant Pathogenic rs137853224 GRCh37 Chromosome 12, 53071466: 53071466
14 KRT1 NM_006121.3(KRT1): c.482T> C (p.Leu161Pro) single nucleotide variant Pathogenic rs57695159 GRCh37 Chromosome 12, 53073651: 53073651
15 KRT1 NM_006121.3(KRT1): c.1445A> G (p.Tyr482Cys) single nucleotide variant Pathogenic rs58420087 GRCh37 Chromosome 12, 53070089: 53070089
16 KRT1 NM_006121.3(KRT1): c.464T> A (p.Val155Asp) single nucleotide variant Pathogenic rs57959072 GRCh37 Chromosome 12, 53073669: 53073669
17 KRT1 NM_006121.3(KRT1): c.564C> A (p.Asn188Lys) single nucleotide variant Pathogenic rs59429455 GRCh37 Chromosome 12, 53073569: 53073569
18 KRT1 NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro) single nucleotide variant Pathogenic rs137853225 GRCh37 Chromosome 12, 53070110: 53070110
19 KRT10 NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter) single nucleotide variant Pathogenic rs60035576 GRCh37 Chromosome 17, 38975842: 38975842
20 KRT10 NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter) single nucleotide variant Pathogenic rs387906640 GRCh37 Chromosome 17, 38975861: 38975861
21 KRT10 KRT10, 1-BP INS, 1325C insertion Pathogenic
22 KRT10 KRT10, IVS5DS, G-A, +5 single nucleotide variant Pathogenic

Expression for Epidermolytic Ichthyosis

Search GEO for disease gene expression data for Epidermolytic Ichthyosis.

Pathways for Epidermolytic Ichthyosis

Pathways related to Epidermolytic Ichthyosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 CSTA FLG KRT1 KRT10 KRT2
2
Show member pathways
11.48 CSTA FLG KRT1 KRT10 KRT2
3
Show member pathways
11.19 KRT1 KRT2

GO Terms for Epidermolytic Ichthyosis

Cellular components related to Epidermolytic Ichthyosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.72 CSTA FLG KRT1 KRT10 KRT2
2 extracellular space GO:0005615 9.46 CSTA KRT1 KRT10 KRT2
3 keratin filament GO:0045095 9.26 KRT1 KRT2
4 intermediate filament GO:0005882 9.26 FLG KRT1 KRT10 KRT2
5 cornified envelope GO:0001533 9.02 CSTA FLG KRT1 KRT10 KRT2

Biological processes related to Epidermolytic Ichthyosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.55 CSTA FLG KRT1 KRT10 KRT2
2 keratinization GO:0031424 9.5 KRT1 KRT10 KRT2
3 keratinocyte differentiation GO:0030216 9.43 CSTA FLG KRT10
4 establishment of skin barrier GO:0061436 9.37 FLG KRT1
5 skin epidermis development GO:0098773 9.26 FLG KRT1 KRT10 KRT2
6 peptide cross-linking GO:0018149 9.02 CSTA FLG KRT1 KRT10 KRT2

Molecular functions related to Epidermolytic Ichthyosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.26 CSTA FLG KRT1 KRT2
2 structural constituent of epidermis GO:0030280 8.92 FLG KRT1 KRT10 KRT2

Sources for Epidermolytic Ichthyosis

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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