MCID: EPD051
MIFTS: 18

Epidermolysis Bullosa Simplex with Anodontia/hypodontia

Categories: Eye diseases, Fetal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

MalaCards integrated aliases for Epidermolysis Bullosa Simplex with Anodontia/hypodontia:

Name: Epidermolysis Bullosa Simplex with Anodontia/hypodontia 58
Epidermolysis Bullosa Simplex with Hypodontia 71
Gamborg-Nielsen Syndrome 58
Kallin Syndrome 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

ICD10 via Orphanet 33 Q81.0
UMLS via Orphanet 72 C0432313
Orphanet 58 ORPHA2325
UMLS 71 C0432313

Summaries for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

MalaCards based summary : Epidermolysis Bullosa Simplex with Anodontia/hypodontia, also known as epidermolysis bullosa simplex with hypodontia, is related to vitiligo-associated multiple autoimmune disease susceptibility 6 and branchiootic syndrome 1. Affiliated tissues include skin and eye, and related phenotypes are abnormal blistering of the skin and delayed eruption of teeth

Related Diseases for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

Diseases related to Epidermolysis Bullosa Simplex with Anodontia/hypodontia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1
2 branchiootic syndrome 1 10.1
3 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1
4 dental caries 10.1
5 epidermolysis bullosa 10.1
6 epidermolysis bullosa simplex 10.1
7 alopecia 10.1

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex with Anodontia/hypodontia:



Diseases related to Epidermolysis Bullosa Simplex with Anodontia/hypodontia

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

Human phenotypes related to Epidermolysis Bullosa Simplex with Anodontia/hypodontia:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
2 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
3 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
4 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
5 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
6 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
7 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
8 fingernail dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100798
9 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
10 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
11 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
12 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
13 ectopia lentis 58 31 frequent (33%) Frequent (79-30%) HP:0001083
14 toenail dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100797
15 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
16 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
17 fatigable weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003473
18 abnormality of the fingernails 58 Very frequent (99-80%)
19 abnormality of the face 58 Frequent (79-30%)

Drugs & Therapeutics for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

Genetic Tests for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

Anatomical Context for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex with Anodontia/hypodontia:

40
Skin, Eye

Publications for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

Articles related to Epidermolysis Bullosa Simplex with Anodontia/hypodontia:

# Title Authors PMID Year
1
Kallin syndrome associated with vitiligo. 61
25251718 2015

Variations for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

Expression for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex with Anodontia/hypodontia.

Pathways for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

GO Terms for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

Sources for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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