MCID: ATS495
MIFTS: 14

Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form

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

Aliases & Classifications for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa,...

MalaCards integrated aliases for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form:

Name: Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form 58
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Non-Hallopeau-Siemens Type 58
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Mitis 58
Generalized Rdeb, Intermediate Form 58
Rdeb, Non-Hallopeau-Siemens Type 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

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


External Ids:

ICD10 via Orphanet 33 Q81.2
Orphanet 58 ORPHA89842

Summaries for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa,...

MalaCards based summary : Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form, also known as autosomal recessive dystrophic epidermolysis bullosa, non-hallopeau-siemens type, is related to recessive dystrophic epidermolysis bullosa-generalized other. An important gene associated with Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include eye and skeletal muscle, and related phenotypes are failure to thrive and depressivity

Related Diseases for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa,...

Diseases related to Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 recessive dystrophic epidermolysis bullosa-generalized other 11.6

Symptoms & Phenotypes for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa,...

Human phenotypes related to Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form:

58 (showing 46, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 Frequent (79-30%)
2 depressivity 58 Occasional (29-5%)
3 dysphagia 58 Frequent (79-30%)
4 constipation 58 Frequent (79-30%)
5 carious teeth 58 Frequent (79-30%)
6 flexion contracture 58 Occasional (29-5%)
7 gastroesophageal reflux 58 Frequent (79-30%)
8 delayed puberty 58 Occasional (29-5%)
9 anemia 58 Very frequent (99-80%)
10 skeletal muscle atrophy 58 Frequent (79-30%)
11 growth delay 58 Very frequent (99-80%)
12 anxiety 58 Occasional (29-5%)
13 atypical scarring of skin 58 Very frequent (99-80%)
14 nevus 58 Occasional (29-5%)
15 dilated cardiomyopathy 58 Occasional (29-5%)
16 irregular hyperpigmentation 58 Frequent (79-30%)
17 narrow mouth 58 Occasional (29-5%)
18 low levels of vitamin d 58 Frequent (79-30%)
19 decreased body weight 58 Very frequent (99-80%)
20 hypoalbuminemia 58 Frequent (79-30%)
21 nail dysplasia 58 Occasional (29-5%)
22 corneal erosion 58 Occasional (29-5%)
23 feeding difficulties 58 Frequent (79-30%)
24 abnormal blistering of the skin 58 Very frequent (99-80%)
25 skin erosion 58 Frequent (79-30%)
26 esophageal stenosis 58 Frequent (79-30%)
27 gastrostomy tube feeding in infancy 58 Occasional (29-5%)
28 visual loss 58 Occasional (29-5%)
29 milia 58 Frequent (79-30%)
30 squamous cell carcinoma 58 Very rare (<4-1%)
31 anonychia 58 Occasional (29-5%)
32 aplasia cutis congenita 58 Occasional (29-5%)
33 absent toenail 58 Occasional (29-5%)
34 ankyloglossia 58 Occasional (29-5%)
35 recurrent skin infections 58 Frequent (79-30%)
36 fragile skin 58 Very frequent (99-80%)
37 esophageal stricture 58 Frequent (79-30%)
38 decreased serum iron 58 Frequent (79-30%)
39 malnutrition 58 Frequent (79-30%)
40 mitten deformity 58 Occasional (29-5%)
41 abnormal esophagus morphology 58 Frequent (79-30%)
42 decreased plasma carnitine 58 Frequent (79-30%)
43 abnormal circulating selenium concentration 58 Very frequent (99-80%)
44 decreased serum zinc 58 Frequent (79-30%)
45 chronic cutaneous wound 58 Frequent (79-30%)
46 anal fissure 58 Occasional (29-5%)

Drugs & Therapeutics for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa,...

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form

Genetic Tests for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa,...

Anatomical Context for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa,...

MalaCards organs/tissues related to Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form:

40
Eye, Skeletal Muscle

Publications for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa,...

Variations for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa,...

Expression for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa,...

Search GEO for disease gene expression data for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form.

Pathways for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa,...

GO Terms for Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa,...

Sources for Autosomal Recessive Generalized Dystrophic 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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