MCID: KND005
MIFTS: 21

Kindler Epidermolysis Bullosa

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Kindler Epidermolysis Bullosa

MalaCards integrated aliases for Kindler Epidermolysis Bullosa:

Name: Kindler Epidermolysis Bullosa 58
Congenital Bullous Poikiloderma 58
Poikiloderma of Kindler 58
Kindler Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
kindler epidermolysis bullosa
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Kindler Epidermolysis Bullosa

MalaCards based summary : Kindler Epidermolysis Bullosa, also known as congenital bullous poikiloderma, is related to kindler syndrome and epidermolysis bullosa. An important gene associated with Kindler Epidermolysis Bullosa is FERMT1 (Fermitin Family Member 1). Related phenotypes are palmoplantar keratoderma and aplasia/hypoplasia of the skin

Related Diseases for Kindler Epidermolysis Bullosa

Diseases related to Kindler Epidermolysis Bullosa via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 kindler syndrome 11.9
2 epidermolysis bullosa 11.3
3 erythrokeratoderma ''en cocardes'' 10.6
4 skin atrophy 10.4
5 autosomal recessive disease 10.4
6 skin disease 10.3
7 periodontitis 10.3
8 ectropion 10.3
9 gingivitis 10.3
10 skin carcinoma 10.3
11 rare genetic skin disease 10.3
12 keratosis 10.2
13 squamous cell carcinoma 10.2
14 phimosis 10.2
15 epidermolysis bullosa dystrophica 10.2
16 dysphagia 10.2
17 inherited epidermolysis bullosa 10.2
18 dowling-degos disease 1 10.1
19 chromosome 2q35 duplication syndrome 10.1
20 telangiectasis 10.1
21 aggressive periodontitis 10.1
22 mucositis 10.0
23 dyskeratosis congenita 10.0
24 epidermolysis bullosa simplex 10.0
25 conjunctivitis 10.0
26 pseudoainhum 10.0
27 premature aging 10.0
28 ankyloglossia with or without tooth anomalies 9.9
29 adermatoglyphia 9.9
30 keratitis, hereditary 9.9
31 bloom syndrome 9.9
32 rothmund-thomson syndrome, type 2 9.9
33 xeroderma pigmentosum, variant type 9.9
34 yemenite deaf-blind hypopigmentation syndrome 9.9
35 cholangitis, primary sclerosing 9.9
36 proteinuria, chronic benign 9.9
37 deficiency anemia 9.9
38 colitis 9.9
39 pemphigoid 9.9
40 corneal disease 9.9
41 hydronephrosis 9.9
42 anhidrosis 9.9
43 iron deficiency anemia 9.9
44 cicatricial ectropion 9.9
45 sclerosing cholangitis 9.9
46 corneal ectasia 9.9
47 pneumothorax 9.9
48 ichthyosis 9.9
49 urethral stricture 9.9
50 melanoma 9.9

Graphical network of the top 20 diseases related to Kindler Epidermolysis Bullosa:



Diseases related to Kindler Epidermolysis Bullosa

Symptoms & Phenotypes for Kindler Epidermolysis Bullosa

Human phenotypes related to Kindler Epidermolysis Bullosa:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
2 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
3 cheilitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100825
4 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
5 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
6 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
7 poikiloderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001029
8 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
9 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
10 gingivitis 58 31 frequent (33%) Frequent (79-30%) HP:0000230
11 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
12 periodontitis 58 31 frequent (33%) Frequent (79-30%) HP:0000704
13 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
14 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
15 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
16 abnormal toenail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0008388
17 premature loss of primary teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006323
18 recurrent skin infections 58 31 frequent (33%) Frequent (79-30%) HP:0001581
19 phimosis 58 31 frequent (33%) Frequent (79-30%) HP:0001741
20 esophageal stricture 58 31 frequent (33%) Frequent (79-30%) HP:0002043
21 colitis 58 31 frequent (33%) Frequent (79-30%) HP:0002583
22 esophagitis 58 31 frequent (33%) Frequent (79-30%) HP:0100633
23 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
24 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
25 short 4th metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010044
26 short 5th metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010047
27 atypical scarring of skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000987
28 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
29 turricephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000262
30 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
31 ectropion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000656
32 abnormality of the anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0004378
33 milia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001056
34 squamous cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002860
35 laryngeal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001602
36 urethral stricture 58 31 occasional (7.5%) Occasional (29-5%) HP:0012227
37 neoplasm of the urethra 58 31 occasional (7.5%) Occasional (29-5%) HP:0100517
38 flexion contracture 58 Occasional (29-5%)
39 hyperkeratosis 58 Occasional (29-5%)
40 inflammation of the large intestine 58 Occasional (29-5%)
41 abnormal skull morphology 58 Occasional (29-5%)

Drugs & Therapeutics for Kindler Epidermolysis Bullosa

Search Clinical Trials , NIH Clinical Center for Kindler Epidermolysis Bullosa

Genetic Tests for Kindler Epidermolysis Bullosa

Anatomical Context for Kindler Epidermolysis Bullosa

Publications for Kindler Epidermolysis Bullosa

Articles related to Kindler Epidermolysis Bullosa:

# Title Authors PMID Year
1
Inherited epidermolysis bullosa: update on the clinical and genetic aspects. 61
32732072 2020

Variations for Kindler Epidermolysis Bullosa

Expression for Kindler Epidermolysis Bullosa

Search GEO for disease gene expression data for Kindler Epidermolysis Bullosa.

Pathways for Kindler Epidermolysis Bullosa

GO Terms for Kindler Epidermolysis Bullosa

Sources for Kindler Epidermolysis Bullosa

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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