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Autosomal recessive epidermolysis bullosa simplex
2 OMIM references -
2 associated genes
49 connected diseases
9 signs/symptoms
Disease Type of connection
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Dermatopathia pigmentosa reticularis
Hereditary sensory and autonomic neuropathy type 6
Naegeli-Franceschetti-Jadassohn syndrome
APC-related attenuated familial adenomatous polyposis
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
Epidermolysis bullosa simplex due to plakophilin deficiency
Congenital analbuminemia
Dedifferentiated liposarcoma
Richieri Costa-Pereira syndrome
Well-differentiated liposarcoma
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Spinocerebellar ataxia type 12
Amyotrophic lateral sclerosis
B-cell chronic lymphocytic leukemia
Bannayan-Riley-Ruvalcaba syndrome
Cabezas syndrome
Cowden syndrome
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Giant cell glioblastoma
Hereditary breast and ovarian cancer syndrome
Heritable pulmonary arterial hypertension
Juvenile myelomonocytic leukemia
Juvenile polyposis of infancy
Leber congenital amaurosis
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Pilocytic astrocytoma
Proteus syndrome
Proteus-like syndrome
Pseudohypoaldosteronism type 2E
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Senior-Loken syndrome
Squamous cell carcinoma of head and neck
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Meesmann corneal dystrophy

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
DST Q03001113810
KRT14 P02533148066
Very frequent
- Autosomal recessive inheritance
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

- Abnormal erosion / resorption of teeth / odontolysis
- Anaemia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Multiple caries
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma

- Ichthyosis / ichthyosiform dermatitis