MCID: EPD051
MIFTS: 17

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 60
Epidermolysis Bullosa Simplex with Hypodontia 74
Gamborg-Nielsen Syndrome 60
Kallin Syndrome 60

Classifications:



External Ids:

ICD10 via Orphanet 35 Q81.0
UMLS via Orphanet 75 C0432313
Orphanet 60 ORPHA2325
UMLS 74 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 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 1 10.1

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

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

60 33 (show all 19)
# 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 delayed eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000684
3 hypoplastic toenails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001800
4 myopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000545
5 abnormality of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0000682
6 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
7 reduced number of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009804
8 fingernail dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100798
9 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303
10 cognitive impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100543
11 alopecia 60 33 frequent (33%) Frequent (79-30%) HP:0001596
12 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
13 ectopia lentis 60 33 frequent (33%) Frequent (79-30%) HP:0001083
14 toenail dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0100797
15 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
16 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
17 fatigable weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003473
18 abnormality of the fingernails 60 Very frequent (99-80%)
19 abnormality of the face 60 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:

42
Skin, Eye

Publications for Epidermolysis Bullosa Simplex with Anodontia/hypodontia

Articles related to Epidermolysis Bullosa Simplex with Anodontia/hypodontia:

# Title Authors Year
1
Kallin syndrome associated with vitiligo. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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