EI
MCID: ATS411
MIFTS: 36

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 58
Bullous Congenital Ichthyosiform Erythroderma of Brock 58
Bullous Congenital Ichthyosiform Erythroderma 58
Ichthyosis Hystrix Brocq Type 58
Epidermolytic Hyperkeratosis 58
Bullous Ichthyosis 58
Bcie 58
Ehk 58
Ei 58

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant epidermolytic ichthyosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 Q80.3
UMLS via Orphanet 71 C0079153
Orphanet 58 ORPHA312

Summaries for Autosomal Dominant Epidermolytic Ichthyosis

MalaCards based summary : Autosomal Dominant Epidermolytic Ichthyosis, also known as bullous congenital ichthyosiform erythroderma of brock, is related to palmoplantar keratoderma, epidermolytic and 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 weight loss and erythroderma

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 107)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, epidermolytic 32.0 KRT10 KRT1
2 epidermolytic hyperkeratosis 31.8 KRT10-AS1 KRT10 KRT1 COL7A1
3 ichthyosis, cyclic, with epidermolytic hyperkeratosis 31.8 KRT10-AS1 KRT10 KRT1
4 ichthyosis bullosa of siemens 31.8 KRT10 KRT1
5 keratosis 31.6 KRT10 KRT1
6 nevus, epidermal 31.2 KRT10 KRT1 COL7A1
7 palmoplantar keratosis 30.5 KRT10 KRT1
8 epidermolysis bullosa 30.2 KRT10 KRT1 COL7A1
9 skin disease 30.2 KRT10 KRT1 COL7A1
10 epidermolysis bullosa simplex 30.2 KRT10 KRT1 COL7A1
11 epidermolysis bullosa dystrophica 30.2 KRT1 COL7A1
12 ichthyosis vulgaris 30.1 KRT10 KRT1
13 ichthyosis 30.0 KRT10-AS1 KRT10 KRT1 COL7A1
14 epidermolytic acanthoma 29.9 KRT10 KRT1
15 acanthoma 29.9 KRT10 KRT1
16 papilloma 29.9 KRT10 KRT1
17 autosomal recessive congenital ichthyosis 29.8 KRT10 KRT1
18 lichen planus 29.6 KRT10 KRT1
19 ichthyosis, congenital, autosomal recessive 2 11.8
20 chanarin-dorfman syndrome 11.6
21 ichthyosis, congenital, autosomal recessive 1 11.5
22 ichthyosis, congenital, autosomal recessive 3 11.5
23 ichthyosis, congenital, autosomal recessive 4a 11.5
24 ichthyosis, congenital, autosomal recessive 11 11.5
25 ichthyosis, congenital, autosomal recessive 5 11.5
26 ichthyosis, congenital, autosomal recessive 6 11.5
27 ichthyosis, congenital, autosomal recessive 8 11.5
28 ichthyosis, congenital, autosomal recessive 9 11.5
29 ichthyosis, congenital, autosomal recessive 10 11.5
30 ichthyosis, congenital, autosomal recessive 12 11.5
31 ichthyosis, congenital, autosomal recessive 14 11.5
32 ichthyosis, congenital, autosomal recessive 13 11.5
33 ichthyosis, congenital, autosomal recessive 4b 11.4
34 epidermolytic nevus 11.1
35 ichthyosis hystrix gravior 11.1
36 palmoplantar keratoderma, bothnian type 11.1
37 ichthyosis hystrix, curth-macklin type 10.9
38 erythrokeratoderma ''en cocardes'' 10.5
39 nevus comedonicus 10.4
40 basal cell carcinoma 10.2
41 noonan syndrome 1 10.2
42 keratosis, seborrheic 10.2
43 vitamin d-dependent rickets, type 2a 10.2
44 ichthyosis, x-linked 10.2
45 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.2
46 exanthem 10.2
47 ocular albinism 10.2
48 anterior segment dysgenesis 10.2
49 sarcoma 10.2
50 malignant fibrous 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:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
2 erythroderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001019
3 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
4 poor appetite 58 31 hallmark (90%) Very frequent (99-80%) HP:0004396
5 congenital bullous ichthyosiform erythroderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007475
6 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
7 palmoplantar keratoderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000982
8 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
9 conjunctival hamartoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100780
10 ichthyosis 58 Very frequent (99-80%)
11 hyperkeratosis 58 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:

40
Skin

Publications for Autosomal Dominant Epidermolytic Ichthyosis

Articles related to Autosomal Dominant Epidermolytic Ichthyosis:

(show top 50) (show all 345)
# Title Authors PMID Year
1
Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10. 6 61
20302579 2010
2
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. 61 6
19474805 2009
3
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. 6 61
16505000 2006
4
Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis. 6 61
12406348 2002
5
Genetic and clinical mosaicism in a type of epidermal nevus. 61 6
7526210 1994
6
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. 6 61
7512983 1994
7
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. 6 61
7508181 1994
8
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. 61 6
7509230 1993
9
The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. 61 6
1381287 1992
10
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. 6 61
1381288 1992
11
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. 6 61
1380725 1992
12
Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. 61 6
1284546 1992
13
Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear form. 61 6
2182100 1990
14
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. 6
18219278 2008
15
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband. 6
11559215 2001
16
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 6
11531804 2001
17
Bilateral Systematised Epidermolytic Epidermal Nevus: A case report. 61
33777434 2021
18
Epidermolytic hyperkeratosis of the vulva. 61
33560797 2021
19
Epidermolytic hyperkeratosis: one more pattern of Grover disease. 61
32686086 2020
20
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. 61
33081034 2020
21
Epidermolytic acanthoma in a young woman: a case letter. 61
33040803 2020
22
Epidermolytic acanthoma: A case report. 61
33024766 2020
23
Annular epidermolytic ichthyosis: a case report and literature review. 61
32482553 2020
24
A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma. 61
32898404 2020
25
Mutations in KRT10 in epidermolytic acanthoma. 61
32045015 2020
26
Solitary oral epidermolytic acanthoma: Case report of a rarely diagnosed entity. 61
31078506 2019
27
An interesting case of coincidental epidermolytic hyperkeratosis and erythema annulare centrifugum in the setting of latent tuberculosis in a 12-year-old female. 61
30623423 2019
28
Hypergranulotic dyscornification: 30 cases of a striking epithelial reaction pattern. 61
31157457 2019
29
Epidermolytic Hyperkeratosis: A Challenging Pathology for Clinical Correlation 61
31290641 2019
30
Late-Onset Nevus Comedonicus With Follicular Epidermolytic Hyperkeratosis-Case Report and Review of the Literature. 61
30461425 2019
31
Solitary and multiple epidermolytic acanthoma: A demographic and clinical study of 131 cases. 61
30663082 2019
32
Epidermolytic hyperkeratosis: clinical update. 61
31190940 2019
33
Appearance of Verruca Over Linear Verrucous Epidermal Nevus - An Example of Locus Minoris Resistentiae: A Report of Three Cases. 61
30258804 2018
34
Clinico-Pathological Study of 4 Cases of Pseudoherpetic Grover Disease: The Same as Vesicular Grover Disease. 61
29781861 2018
35
Extramammary Paget disease with histologic presence of epidermolytic hyperkeratosis: An unusual presentation. 61
29536968 2018
36
Multiscale modeling of keratin, collagen, elastin and related human diseases: Perspectives from atomistic to coarse-grained molecular dynamics simulations. 61
33344740 2018
37
Multiple epidermolytic acanthomas mimicking condyloma: a retrospective study of 8 cases. 61
29090469 2018
38
A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis. 61
30859768 2018
39
Incidental focal epidermolytic hyperkeratosis in rosacea. 61
27401945 2017
40
Epidermolytic Ichthyosis Sine Epidermolysis. 61
28121638 2017
41
Epidermolytic Acanthoma on Fingers, Mimicking Flat Warts. 61
28868008 2017
42
[Multiple epidermolytic acanthomas of the genitalia]. 61
27789051 2017
43
Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis. 61
27520397 2017
44
S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. 61
26373619 2016
45
Acantholytic Acanthoma of the Eyelid: Unusual Presentation. 61
25186214 2016
46
Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis. 61
27920816 2016
47
Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). 61
26969483 2016
48
Presentation of epidermolytic acanthomas as multiple tan papules on the vulva. 61
27034569 2016
49
Epidermolytic Hyperkeratosis--case report. 61
26734873 2015
50
Epidermolytic Hyperkeratosis: One More Pattern of Grover Disease. 61
25436919 2015

Variations for Autosomal Dominant Epidermolytic Ichthyosis

ClinVar genetic disease variations for Autosomal Dominant Epidermolytic Ichthyosis:

6 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT10 KRT10, ARG10HIS SNV Pathogenic 14568 GRCh37:
GRCh38:
2 KRT10 KRT10, ARG10LEU Variation Pathogenic 14570 GRCh37:
GRCh38:
3 KRT10 KRT10, ARG10CYS Variation Pathogenic 14574 GRCh37:
GRCh38:
4 KRT1 NM_006121.4(KRT1):c.931G>C (p.Glu311Gln) SNV Pathogenic 15907 rs137853224 GRCh37: 12:53071466-53071466
GRCh38: 12:52677682-52677682
5 KRT1 NM_006121.4(KRT1):c.482T>C (p.Leu161Pro) SNV Pathogenic 15908 rs57695159 GRCh37: 12:53073651-53073651
GRCh38: 12:52679867-52679867
6 KRT1 NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys) SNV Pathogenic 15909 rs58420087 GRCh37: 12:53070089-53070089
GRCh38: 12:52676305-52676305
7 KRT1 NM_006121.4(KRT1):c.464T>A (p.Val155Asp) SNV Pathogenic 15913 rs57959072 GRCh37: 12:53073669-53073669
GRCh38: 12:52679885-52679885
8 KRT1 NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) SNV Pathogenic 15914 rs59429455 GRCh37: 12:53073569-53073569
GRCh38: 12:52679785-52679785
9 KRT1 NM_006121.4(KRT1):c.1424T>C (p.Leu475Pro) SNV Pathogenic 15915 rs137853225 GRCh37: 12:53070110-53070110
GRCh38: 12:52676326-52676326
10 KRT10 KRT10, 1-BP INS, 1325C Insertion Pathogenic 29766 GRCh37:
GRCh38:
11 KRT1 NM_006121.4(KRT1):c.623T>C (p.Leu208Pro) SNV Pathogenic 66659 rs61616632 GRCh37: 12:53072509-53072509
GRCh38: 12:52678725-52678725
12 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.482T>C (p.Leu161Ser) SNV Pathogenic 14569 rs60118264 GRCh37: 17:38978356-38978356
GRCh38: 17:40822104-40822104
13 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.460A>C (p.Asn154His) SNV Pathogenic 14571 rs57784225 GRCh37: 17:38978378-38978378
GRCh38: 17:40822126-40822126
14 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.478T>G (p.Tyr160Asp) SNV Pathogenic 14572 rs58414354 GRCh37: 17:38978360-38978360
GRCh38: 17:40822108-40822108
15 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.467G>A (p.Arg156His) SNV Pathogenic 14573 rs58075662 GRCh37: 17:38978371-38978371
GRCh38: 17:40822119-40822119
16 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.1325T>A (p.Leu442Gln) SNV Pathogenic 14575 rs58026994 GRCh37: 17:38975817-38975817
GRCh38: 17:40819565-40819565
17 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.466C>T (p.Arg156Cys) SNV Pathogenic 14576 rs58852768 GRCh37: 17:38978372-38978372
GRCh38: 17:40822120-40822120
18 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.449T>G (p.Met150Arg) SNV Pathogenic 14577 rs58901407 GRCh37: 17:38978389-38978389
GRCh38: 17:40822137-40822137
19 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.1315A>G (p.Lys439Glu) SNV Pathogenic 14578 rs61434181 GRCh37: 17:38975827-38975827
GRCh38: 17:40819575-40819575
20 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.449T>C (p.Met150Thr) SNV Pathogenic 14579 rs58901407 GRCh37: 17:38978389-38978389
GRCh38: 17:40822137-40822137
21 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.1300C>T (p.Gln434Ter) SNV Pathogenic 29764 rs60035576 GRCh37: 17:38975842-38975842
GRCh38: 17:40819590-40819590
22 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.1281C>A (p.Cys427Ter) SNV Pathogenic 29765 rs387906640 GRCh37: 17:38975861-38975861
GRCh38: 17:40819609-40819609
23 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.1155+5G>A SNV Pathogenic 66159 rs267607381 GRCh37: 17:38976296-38976296
GRCh38: 17:40820044-40820044
24 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.466C>T (p.Arg156Cys) SNV Pathogenic 14576 rs58852768 GRCh37: 17:38978372-38978372
GRCh38: 17:40822120-40822120
25 KRT10 NM_000421.5(KRT10):c.1635del (p.Ser546fs) Deletion Pathogenic 998186 GRCh37: 17:38975152-38975152
GRCh38: 17:40818900-40818900
26 KRT10 NM_000421.5(KRT10):c.1639_1640insGCGGCGGCGGC (p.Ser547fs) Insertion Pathogenic 1031562 GRCh37: 17:38975147-38975148
GRCh38: 17:40818895-40818896
27 KRT10 NM_000421.5(KRT10):c.1640_1641insGGATA (p.Gly548fs) Insertion Pathogenic 1031563 GRCh37: 17:38975146-38975147
GRCh38: 17:40818894-40818895
28 KRT10 NM_000421.5(KRT10):c.1457_1458insAAGCTCCGGCG (p.His487fs) Insertion Pathogenic 1034195 GRCh37: 17:38975329-38975330
GRCh38: 17:40819077-40819078
29 COL7A1 NM_000094.3(COL7A1):c.1442G>A (p.Arg481His) SNV Likely pathogenic 373954 rs147040026 GRCh37: 3:48629171-48629171
GRCh38: 3:48591738-48591738
30 KRT10-AS1 , KRT10 NM_000421.5(KRT10):c.98C>T (p.Ser33Phe) SNV Uncertain significance 1030782 GRCh37: 17:38978740-38978740
GRCh38: 17:40822488-40822488
31 KRT1 NM_006121.4(KRT1):c.1002T>C (p.Asn334=) SNV Uncertain significance 881095 GRCh37: 12:53071226-53071226
GRCh38: 12:52677442-52677442
32 KRT1 NM_006121.4(KRT1):c.729C>T (p.Asp243=) SNV Uncertain significance 881567 GRCh37: 12:53072403-53072403
GRCh38: 12:52678619-52678619
33 KRT1 NM_006121.4(KRT1):c.*72G>T SNV Uncertain significance 883407 GRCh37: 12:53068905-53068905
GRCh38: 12:52675121-52675121
34 KRT1 NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro) SNV Uncertain significance 883452 GRCh37: 12:53070176-53070176
GRCh38: 12:52676392-52676392
35 KRT1 NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser) SNV Uncertain significance 881053 GRCh37: 12:53069246-53069246
GRCh38: 12:52675462-52675462
36 KRT1 NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser) SNV Uncertain significance 881054 GRCh37: 12:53069348-53069348
GRCh38: 12:52675564-52675564
37 KRT1 NM_006121.4(KRT1):c.477G>C (p.Gln159His) SNV Uncertain significance 309652 rs886049635 GRCh37: 12:53073656-53073656
GRCh38: 12:52679872-52679872
38 KRT1 NM_006121.4(KRT1):c.302G>T (p.Gly101Val) SNV Uncertain significance 309654 rs147840212 GRCh37: 12:53073831-53073831
GRCh38: 12:52680047-52680047
39 KRT1 NM_006121.4(KRT1):c.*372G>A SNV Uncertain significance 309631 rs886049633 GRCh37: 12:53068605-53068605
GRCh38: 12:52674821-52674821
40 KRT1 NM_006121.4(KRT1):c.257G>A (p.Arg86His) SNV Uncertain significance 309655 rs886049637 GRCh37: 12:53073876-53073876
GRCh38: 12:52680092-52680092
41 KRT1 NM_006121.4(KRT1):c.374G>A (p.Gly125Asp) SNV Uncertain significance 309653 rs886049636 GRCh37: 12:53073759-53073759
GRCh38: 12:52679975-52679975
42 KRT1 NM_006121.4(KRT1):c.*275G>A SNV Uncertain significance 309633 rs886049634 GRCh37: 12:53068702-53068702
GRCh38: 12:52674918-52674918
43 KRT1 NM_006121.4(KRT1):c.1475+14G>A SNV Likely benign 309643 rs369324638 GRCh37: 12:53070045-53070045
GRCh38: 12:52676261-52676261
44 KRT1 NM_006121.4(KRT1):c.592-8G>A SNV Benign 309651 rs147622831 GRCh37: 12:53072548-53072548
GRCh38: 12:52678764-52678764
45 KRT1 NM_006121.4(KRT1):c.1294C>T (p.Arg432Cys) SNV Benign 883453 GRCh37: 12:53070240-53070240
GRCh38: 12:52676456-52676456
46 KRT1 NM_006121.4(KRT1):c.45G>A (p.Gly15=) SNV Benign 883502 GRCh37: 12:53074088-53074088
GRCh38: 12:52680304-52680304
47 KRT1 NM_006121.4(KRT1):c.113G>A (p.Arg38His) SNV Benign 309656 rs34787940 GRCh37: 12:53074020-53074020
GRCh38: 12:52680236-52680236
48 KRT1 NM_006121.4(KRT1):c.1074C>T (p.Tyr358=) SNV Benign 309645 rs150503977 GRCh37: 12:53071154-53071154
GRCh38: 12:52677370-52677370
49 KRT1 NM_006121.4(KRT1):c.982A>T (p.Thr328Ser) SNV Benign 309648 rs139428176 GRCh37: 12:53071246-53071246
GRCh38: 12:52677462-52677462
50 KRT1 NM_006121.4(KRT1):c.75C>T (p.Ile25=) SNV Benign 66664 rs828367 GRCh37: 12:53074058-53074058
GRCh38: 12:52680274-52680274

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 KRT10 KRT1

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 KRT10 KRT1
2 cornified envelope GO:0001533 8.62 KRT10 KRT1

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 KRT10 KRT1
2 cornification GO:0070268 9.16 KRT10 KRT1
3 peptide cross-linking GO:0018149 8.96 KRT10 KRT1
4 protein heterotetramerization GO:0051290 8.62 KRT10 KRT1

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of epidermis GO:0030280 8.62 KRT10 KRT1

Sources for Autosomal Dominant Epidermolytic Ichthyosis

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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