Junctional epidermolysis bullosa, non-Herlitz type

General Information (adopted from Orphanet):

Synonyms, Signs: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
GABEB EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, INCLUDED
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
JEB-I, INCLUDED
JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA, INCLUDED
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
JEN-nH
Number of Symptoms 33
OrphanetNr: 89840
OMIM Id: 226650
ICD-10: Q81.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Junctional epidermolysis bullosa
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare odontologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000795) Abnormality of the urethra Occasional [Orphanet] 38 / 7739
2
(HPO:0011037) Decreased urine output Occasional [Orphanet] 47 / 7739
3
(HPO:0100577) Urinary bladder inflammation Occasional [Orphanet] 4 / 7739
4
(HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
5
(HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
6
(HPO:0000670) Carious teeth 145 / 7739
7
(HPO:0200097) Oral mucosal blisters 7 / 7739
8
(HPO:0000668) Hypodontia 81 / 7739
9
(HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
10
(HPO:0002021) Pyloric stenosis Occasional [Orphanet] 51 / 7739
11
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
12
(HPO:0001808) Fragile nails 21 / 7739
13
(HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
14
(HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
15
(HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
16
(HPO:0007556) Plantar hyperkeratosis 8 / 7739
17
(HPO:0006089) Palmar hyperhidrosis 5 / 7739
18
(HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
19
(HPO:0008065) Aplasia/Hypoplasia of the skin Occasional [Orphanet] 81 / 7739
20
(HPO:0001000) Abnormality of skin pigmentation Frequent [Orphanet] 105 / 7739
21
(HPO:0008404) Nail dystrophy 89 / 7739
22
(HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
23
(HPO:0100640) Laryngeal cyst Very frequent [Orphanet] 2 / 7739
24
(OMIM) Enamel pitting 6 / 7739
25
(OMIM) Normal hemidesmosomes 4 / 7739
26
(OMIM) Subepidermal blistering 4 / 7739
27
(OMIM) Mild finger contractures 4 / 7739
28
(OMIM) Absent dermal ridges 4 / 7739
29
(OMIM) Non-scarring skin blistering (hands, feet, elbow, knee - onset in adolescence) 4 / 7739
30
(OMIM) Loss of dermal papillae 4 / 7739
31
(OMIM) Junctional blister formation 4 / 7739
32
(OMIM) Widened lamina lucida 4 / 7739
33
(OMIM) Loss of superficial elastic fibers 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hashimoto et al. (1976) observed this disorder in 3 offspring of a first-cousin marriage and named for Disentis, the place of birth of the patients. The proband was a 38-year-old man with extensive blistering. He also had 2 ...
Genotype-Phenotype Correlations OMIM Nakano et al. (2002) studied the mutational differences between the Herlitz and non-Herlitz forms of junctional EB. They examined a cohort of 27 families, 15 with Herlitz and 12 with non-Herlitz junctional EB, for mutations in the candidate ...
Molecular genetics OMIM - Mutations in the COL17A1 Gene

In a 14-year-old male with typical clinical features of this disorder, McGrath et al. (1995) identified compound heterozygosity for nonsense mutations in the COL17A1 gene (113811.0001 and 113811.0002). The unrelated ...