EI
MCID: ATS411
MIFTS: 35

Autosomal Dominant Epidermolytic Ichthyosis (EI)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Autosomal Dominant Epidermolytic Ichthyosis

MalaCards integrated aliases for Autosomal Dominant Epidermolytic Ichthyosis:

Name: Autosomal Dominant Epidermolytic Ichthyosis 60
Bullous Congenital Ichthyosiform Erythroderma of Brock 60
Bullous Congenital Ichthyosiform Erythroderma 60
Ichthyosis Hystrix Brocq Type 60
Epidermolytic Hyperkeratosis 60
Bullous Ichthyosis 60
Bcie 60
Ehk 60
Ei 60

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant epidermolytic ichthyosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Neonatal;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

ICD10 via Orphanet 35 Q80.3
UMLS via Orphanet 75 C0079153
Orphanet 60 ORPHA312

Summaries for Autosomal Dominant Epidermolytic Ichthyosis

CDC : 3 EIS is a long-standing, globally-recognized fellowship program, renowned for its investigative and emergency response efforts. Learn about the disease detectives and alumni who make up this program’s distinguished network.

MalaCards based summary : Autosomal Dominant Epidermolytic Ichthyosis, also known as bullous congenital ichthyosiform erythroderma of brock, is related to epidermolytic hyperkeratosis and ichthyosis, cyclic, with epidermolytic hyperkeratosis. An important gene associated with Autosomal Dominant Epidermolytic Ichthyosis is KRT1 (Keratin 1), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin, and related phenotypes are abnormal blistering of the skin and weight loss

Related Diseases for Autosomal Dominant Epidermolytic Ichthyosis

Diseases in the Autosomal Dominant Epidermolytic Ichthyosis family:

Autosomal Recessive Epidermolytic Ichthyosis

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

(show top 50) (show all 172)
# Related Disease Score Top Affiliating Genes
1 epidermolytic hyperkeratosis 34.1 KRT1 KRT10
2 ichthyosis, cyclic, with epidermolytic hyperkeratosis 33.4 KRT1 KRT10
3 palmoplantar keratoderma, epidermolytic 32.9 KRT1 KRT10
4 ichthyosis bullosa of siemens 32.0 KRT1 KRT10
5 ichthyosis 30.7 KRT1 KRT10
6 keratosis 30.1 KRT1 KRT10
7 epidermolysis bullosa simplex 29.9 KRT1 KRT10
8 skin disease 29.4 KRT1 KRT10
9 ichthyosis, congenital, autosomal recessive 2 12.1
10 ichthyosis, congenital, autosomal recessive 1 11.6
11 ichthyosis, congenital, autosomal recessive 4a 11.6
12 ichthyosis, congenital, autosomal recessive 11 11.6
13 ichthyosis, congenital, autosomal recessive 5 11.6
14 ichthyosis, congenital, autosomal recessive 3 11.6
15 ichthyosis, congenital, autosomal recessive 6 11.6
16 ichthyosis, congenital, autosomal recessive 8 11.6
17 ichthyosis, congenital, autosomal recessive 9 11.6
18 ichthyosis, congenital, autosomal recessive 10 11.6
19 ichthyosis, congenital, autosomal recessive 12 11.6
20 ichthyosis, congenital, autosomal recessive 14 11.6
21 ichthyosis, congenital, autosomal recessive 13 11.6
22 nevus, epidermal 11.6
23 ichthyosis, congenital, autosomal recessive 4b 11.4
24 chanarin-dorfman syndrome 11.4
25 esotropia 11.4
26 epidermolytic nevus 11.3
27 ichthyosis hystrix gravior 11.2
28 palmoplantar keratoderma, bothnian type 11.2
29 estrogen resistance 11.2
30 ichthyosis hystrix, curth-macklin type 11.1
31 retinitis pigmentosa 25 11.0
32 nevus comedonicus 10.5
33 pleuro-pericardial cyst 10.5
34 internuclear ophthalmoplegia 10.4
35 retinitis pigmentosa 10.4
36 retinitis 10.4
37 leber congenital amaurosis 4 10.4
38 epidermolysis bullosa 10.3
39 basal cell carcinoma 1 10.3
40 autosomal recessive congenital ichthyosis 10.3
41 basal cell carcinoma 10.3
42 palmoplantar keratosis 10.3
43 noonan syndrome 1 10.2
44 vitamin d-dependent rickets, type 2a 10.2
45 epidermolysis bullosa dystrophica 10.2
46 ocular albinism 10.2
47 open-angle glaucoma 10.2
48 sarcoma 10.2
49 malignant fibroxanthoma 10.2
50 histiocytoma 10.2

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



Diseases related to Autosomal Dominant Epidermolytic Ichthyosis

Symptoms & Phenotypes for Autosomal Dominant Epidermolytic Ichthyosis

Human phenotypes related to Autosomal Dominant Epidermolytic Ichthyosis:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008066
2 weight loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0001824
3 erythroderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001019
4 poor appetite 60 33 hallmark (90%) Very frequent (99-80%) HP:0004396
5 congenital bullous ichthyosiform erythroderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007475
6 cutaneous photosensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0000992
7 palmoplantar keratoderma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000982
8 skin ulcer 60 33 occasional (7.5%) Occasional (29-5%) HP:0200042
9 conjunctival hamartoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0100780
10 ichthyosis 60 Very frequent (99-80%)
11 hyperkeratosis 60 Very frequent (99-80%)

Drugs & Therapeutics for Autosomal Dominant Epidermolytic Ichthyosis

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Epidermolytic Ichthyosis

Genetic Tests for Autosomal Dominant Epidermolytic Ichthyosis

Anatomical Context for Autosomal Dominant Epidermolytic Ichthyosis

MalaCards organs/tissues related to Autosomal Dominant Epidermolytic Ichthyosis:

42
Skin

Publications for Autosomal Dominant Epidermolytic Ichthyosis

Articles related to Autosomal Dominant Epidermolytic Ichthyosis:

(show top 50) (show all 53)
# Title Authors Year
1
Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families. ( 29935003 )
2018
2
Juvenile Open Angle Glaucoma with Non Bullous Congenital Ichthyosiform Erythroderma. ( 29952820 )
2018
3
Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). ( 26969483 )
2016
4
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction. ( 26370990 )
2015
5
Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. ( 25751346 )
2015
6
Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia. ( 26379388 )
2015
7
Non-bullous congenital ichthyosiform erythroderma. ( 25129016 )
2014
8
Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey. ( 23182068 )
2013
9
Bullous congenital ichthyosiform erythroderma with rickets: a rare association. ( 24320759 )
2013
10
Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. ( 22257947 )
2012
11
Bullous congenital ichthyosiform erythroderma. ( 22253153 )
2011
12
Development of multiple non-melanoma skin carcinomas in a patient with non-bullous congenital ichthyosiform erythroderma. ( 21352327 )
2011
13
Seborrheic keratosis in a young patient with non-bullous congenital ichthyosiform erythroderma. ( 21700545 )
2011
14
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. ( 19930990 )
2009
15
Bullous congenital ichthyosiform erythroderma clinically resembling neonatal staphylococcal scalded skin syndrome. ( 19635120 )
2009
16
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. ( 19262603 )
2009
17
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. ( 19689541 )
2009
18
Cutaneous malignant fibrous histiocytoma (undifferentiated pleomorphic sarcoma) arising in a chronic scalp ulcer of a patient with non-bullous congenital ichthyosiform erythroderma. ( 18435726 )
2009
19
A case of mosaic-type bullous congenital ichthyosiform erythroderma successfully treated with topical maxacalcitol, a vitamin D3 analogue. ( 18498407 )
2008
20
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. ( 18429807 )
2008
21
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. ( 18219278 )
2008
22
Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. ( 17508018 )
2007
23
Bullous congenital ichthyosiform erythroderma of Brocq. ( 17973888 )
2007
24
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. ( 17596149 )
2007
25
Successful treatment of bullous congenital ichthyosiform erythroderma with erythromycin. ( 17587848 )
2007
26
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1. ( 16361731 )
2005
27
DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings. ( 15583602 )
2004
28
Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. ( 12588401 )
2003
29
Bullous congenital ichthyosiform erythroderma: safe and effective topical treatment with calcipotriol ointment in a child. ( 12636025 )
2003
30
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. ( 11773004 )
2002
31
A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma. ( 11990254 )
2002
32
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband. ( 11559215 )
2001
33
A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin10 leads to bullous congenital ichthyosiform erythroderma. ( 11407994 )
2001
34
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. ( 11531804 )
2001
35
Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma. ( 11204523 )
2000
36
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. ( 11167973 )
2000
37
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma. ( 10232402 )
1999
38
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. ( 9856845 )
1998
39
An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1. ( 9856846 )
1998
40
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. ( 9036939 )
1997
41
A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma. ( 8949442 )
1996
42
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). ( 7507152 )
1994
43
Evidence of increased keratinocyte proliferation in air-liquid interface cultures of non-bullous congenital ichthyosiform erythroderma. ( 7506468 )
1993
44
Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster. ( 7678607 )
1993
45
Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). ( 1376754 )
1992
46
Re-expression of disease-characteristic features of non-bullous congenital ichthyosiform erythroderma (CIE) after grafting of the pathological keratinocyte cultures to athymic mice. ( 2466063 )
1989
47
Bullous congenital ichthyosiform erythroderma masquerading as dystrophic epidermolysis bullosa. ( 2582009 )
1985
48
Fractionation and characterization of the epidermal stratum corneum in bullous congenital ichthyosiform erythroderma (BCIE). ( 6199395 )
1983
49
Response of bullous congenital ichthyosiform erythroderma to high-dose vitamin A. ( 7035075 )
1982
50
Abnormal fibrous protein isolated from the stratum corneum of a patient with bullous congenital ichthyosiform erythroderma (BCIE). ( 160775 )
1979

Variations for Autosomal Dominant Epidermolytic Ichthyosis

ClinVar genetic disease variations for Autosomal Dominant Epidermolytic Ichthyosis:

6 (show top 50) (show all 104)
# 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 NM_000421.3(KRT10): c.482T> C (p.Leu161Ser) single nucleotide variant Pathogenic rs60118264 GRCh38 Chromosome 17, 40822104: 40822104
4 KRT10 KRT10, ARG10LEU undetermined variant Pathogenic
5 KRT10 NM_000421.3(KRT10): c.460A> C (p.Asn154His) single nucleotide variant Pathogenic rs57784225 GRCh37 Chromosome 17, 38978378: 38978378
6 KRT10 NM_000421.3(KRT10): c.460A> C (p.Asn154His) single nucleotide variant Pathogenic rs57784225 GRCh38 Chromosome 17, 40822126: 40822126
7 KRT10 NM_000421.3(KRT10): c.478T> G (p.Tyr160Asp) single nucleotide variant Pathogenic rs58414354 GRCh37 Chromosome 17, 38978360: 38978360
8 KRT10 NM_000421.3(KRT10): c.478T> G (p.Tyr160Asp) single nucleotide variant Pathogenic rs58414354 GRCh38 Chromosome 17, 40822108: 40822108
9 KRT10 NM_000421.3(KRT10): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs58075662 GRCh37 Chromosome 17, 38978371: 38978371
10 KRT10 NM_000421.3(KRT10): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs58075662 GRCh38 Chromosome 17, 40822119: 40822119
11 KRT10 KRT10, ARG10CYS undetermined variant Pathogenic
12 KRT10 NM_000421.3(KRT10): c.1325T> A (p.Leu442Gln) single nucleotide variant Pathogenic rs58026994 GRCh37 Chromosome 17, 38975817: 38975817
13 KRT10 NM_000421.3(KRT10): c.1325T> A (p.Leu442Gln) single nucleotide variant Pathogenic rs58026994 GRCh38 Chromosome 17, 40819565: 40819565
14 KRT10 NM_000421.3(KRT10): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs58852768 GRCh37 Chromosome 17, 38978372: 38978372
15 KRT10 NM_000421.3(KRT10): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs58852768 GRCh38 Chromosome 17, 40822120: 40822120
16 KRT10 NM_000421.3(KRT10): c.449T> G (p.Met150Arg) single nucleotide variant Pathogenic rs58901407 GRCh37 Chromosome 17, 38978389: 38978389
17 KRT10 NM_000421.3(KRT10): c.449T> G (p.Met150Arg) single nucleotide variant Pathogenic rs58901407 GRCh38 Chromosome 17, 40822137: 40822137
18 KRT10 NM_000421.3(KRT10): c.1315A> G (p.Lys439Glu) single nucleotide variant Pathogenic rs61434181 GRCh37 Chromosome 17, 38975827: 38975827
19 KRT10 NM_000421.3(KRT10): c.1315A> G (p.Lys439Glu) single nucleotide variant Pathogenic rs61434181 GRCh38 Chromosome 17, 40819575: 40819575
20 KRT10 NM_000421.3(KRT10): c.449T> C (p.Met150Thr) single nucleotide variant Pathogenic rs58901407 GRCh37 Chromosome 17, 38978389: 38978389
21 KRT10 NM_000421.3(KRT10): c.449T> C (p.Met150Thr) single nucleotide variant Pathogenic rs58901407 GRCh38 Chromosome 17, 40822137: 40822137
22 KRT1 NM_006121.3(KRT1): c.931G> C (p.Glu311Gln) single nucleotide variant Pathogenic rs137853224 GRCh37 Chromosome 12, 53071466: 53071466
23 KRT1 NM_006121.3(KRT1): c.931G> C (p.Glu311Gln) single nucleotide variant Pathogenic rs137853224 GRCh38 Chromosome 12, 52677682: 52677682
24 KRT1 NM_006121.3(KRT1): c.482T> C (p.Leu161Pro) single nucleotide variant Pathogenic rs57695159 GRCh37 Chromosome 12, 53073651: 53073651
25 KRT1 NM_006121.3(KRT1): c.482T> C (p.Leu161Pro) single nucleotide variant Pathogenic rs57695159 GRCh38 Chromosome 12, 52679867: 52679867
26 KRT1 NM_006121.3(KRT1): c.1445A> G (p.Tyr482Cys) single nucleotide variant Pathogenic rs58420087 GRCh37 Chromosome 12, 53070089: 53070089
27 KRT1 NM_006121.3(KRT1): c.1445A> G (p.Tyr482Cys) single nucleotide variant Pathogenic rs58420087 GRCh38 Chromosome 12, 52676305: 52676305
28 KRT1 NM_006121.3(KRT1): c.464T> A (p.Val155Asp) single nucleotide variant Pathogenic rs57959072 GRCh37 Chromosome 12, 53073669: 53073669
29 KRT1 NM_006121.3(KRT1): c.464T> A (p.Val155Asp) single nucleotide variant Pathogenic rs57959072 GRCh38 Chromosome 12, 52679885: 52679885
30 KRT1 NM_006121.3(KRT1): c.564C> A (p.Asn188Lys) single nucleotide variant Pathogenic rs59429455 GRCh37 Chromosome 12, 53073569: 53073569
31 KRT1 NM_006121.3(KRT1): c.564C> A (p.Asn188Lys) single nucleotide variant Pathogenic rs59429455 GRCh38 Chromosome 12, 52679785: 52679785
32 KRT1 NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro) single nucleotide variant Pathogenic rs137853225 GRCh37 Chromosome 12, 53070110: 53070110
33 KRT1 NM_006121.3(KRT1): c.1424T> C (p.Leu475Pro) single nucleotide variant Pathogenic rs137853225 GRCh38 Chromosome 12, 52676326: 52676326
34 KRT10 NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter) single nucleotide variant Pathogenic rs60035576 GRCh37 Chromosome 17, 38975842: 38975842
35 KRT10 NM_000421.3(KRT10): c.1300C> T (p.Gln434Ter) single nucleotide variant Pathogenic rs60035576 GRCh38 Chromosome 17, 40819590: 40819590
36 KRT10 NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter) single nucleotide variant Pathogenic rs387906640 GRCh37 Chromosome 17, 38975861: 38975861
37 KRT10 NM_000421.3(KRT10): c.1281C> A (p.Cys427Ter) single nucleotide variant Pathogenic rs387906640 GRCh38 Chromosome 17, 40819609: 40819609
38 KRT10 KRT10, 1-BP INS, 1325C insertion Pathogenic
39 KRT10 NM_000421.3(KRT10): c.1155+5G> A single nucleotide variant Pathogenic rs267607381 GRCh37 Chromosome 17, 38976296: 38976296
40 KRT10 NM_000421.3(KRT10): c.1155+5G> A single nucleotide variant Pathogenic rs267607381 GRCh38 Chromosome 17, 40820044: 40820044
41 KRT1 NM_006121.3(KRT1): c.1360G> T (p.Ala454Ser) single nucleotide variant Likely benign rs17678945 GRCh37 Chromosome 12, 53070174: 53070174
42 KRT1 NM_006121.3(KRT1): c.1360G> T (p.Ala454Ser) single nucleotide variant Likely benign rs17678945 GRCh38 Chromosome 12, 52676390: 52676390
43 KRT1 NM_006121.3(KRT1): c.1389C> T (p.Arg463=) single nucleotide variant Benign rs936958 GRCh37 Chromosome 12, 53070145: 53070145
44 KRT1 NM_006121.3(KRT1): c.1389C> T (p.Arg463=) single nucleotide variant Benign rs936958 GRCh38 Chromosome 12, 52676361: 52676361
45 KRT1 NM_006121.3(KRT1): c.623T> C (p.Leu208Pro) single nucleotide variant Pathogenic rs61616632 GRCh37 Chromosome 12, 53072509: 53072509
46 KRT1 NM_006121.3(KRT1): c.623T> C (p.Leu208Pro) single nucleotide variant Pathogenic rs61616632 GRCh38 Chromosome 12, 52678725: 52678725
47 KRT1 NM_006121.3(KRT1): c.75C> T (p.Ile25=) single nucleotide variant Likely benign rs828367 GRCh37 Chromosome 12, 53074058: 53074058
48 KRT1 NM_006121.3(KRT1): c.75C> T (p.Ile25=) single nucleotide variant Likely benign rs828367 GRCh38 Chromosome 12, 52680274: 52680274
49 KRT1 NM_006121.3(KRT1): c.*91T> C single nucleotide variant Likely benign rs560913567 GRCh37 Chromosome 12, 53068886: 53068886
50 KRT1 NM_006121.3(KRT1): c.*91T> C single nucleotide variant Likely benign rs560913567 GRCh38 Chromosome 12, 52675102: 52675102

Expression for Autosomal Dominant Epidermolytic Ichthyosis

Search GEO for disease gene expression data for Autosomal Dominant Epidermolytic Ichthyosis.

Pathways for Autosomal Dominant Epidermolytic Ichthyosis

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.08 KRT1 KRT10

GO Terms for Autosomal Dominant Epidermolytic Ichthyosis

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.96 KRT1 KRT10
2 cornified envelope GO:0001533 8.62 KRT1 KRT10

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.26 KRT1 KRT10
2 cornification GO:0070268 9.16 KRT1 KRT10
3 peptide cross-linking GO:0018149 8.96 KRT1 KRT10
4 protein heterotetramerization GO:0051290 8.62 KRT1 KRT10

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

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.16 KRT1 KRT10
2 structural molecule activity GO:0005198 8.96 KRT1 KRT10
3 structural constituent of epidermis GO:0030280 8.62 KRT1 KRT10

Sources for Autosomal Dominant Epidermolytic Ichthyosis

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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