Recessive dystrophic epidermolysis bullosa-generalized other
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RDEB-O Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type RDEB, non-Hallopeau-Siemens type RDEB generalisata mitis Generalized mitis RDEB Autosomal recessive dystrophic epidermolysis bullosa, generalized other RDEB-generalized other Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis |
| Number of Symptoms | 28 |
| OrphanetNr: | 89842 |
| OMIM Id: |
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| ICD-10: |
Q81.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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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: |
Dystrophic epidermolysis bullosa
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Hereditary epidermolysis bullosa associated with ocular features -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0011830) | Abnormality of oral mucosa | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0000492) | Abnormality of the eyelid | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0000315) | Abnormality of the orbital region | Occasional [Orphanet] | 18 / 7739 | |||
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(HPO:0000670) | Carious teeth | Frequent [Orphanet] | 145 / 7739 | |||
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(HPO:0010296) | Ankyloglossia | Frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Occasional [Orphanet] | 96 / 7739 | |||
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Occasional [Orphanet] | 124 / 7739 | |||
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(HPO:0002015) | Dysphagia | Frequent [Orphanet] | 301 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Occasional [Orphanet] | 156 / 7739 | |||
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(HPO:0001770) | Toe syndactyly | Occasional [Orphanet] | 149 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Occasional [Orphanet] | 165 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Occasional [Orphanet] | 198 / 7739 | |||
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(HPO:0002019) | Constipation | Frequent [Orphanet] | 194 / 7739 | |||
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(HPO:0002575) | Tracheoesophageal fistula | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0004378) | Abnormality of the anus | Frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0008388) | Abnormality of the toenails | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0008065) | Aplasia/Hypoplasia of the skin | Occasional [Orphanet] | 81 / 7739 | |||
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(HPO:0001595) | Abnormality of the hair | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0000987) | Atypical scarring of skin | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0001596) | Alopecia | Occasional [Orphanet] | 162 / 7739 | |||
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(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0001231) | Abnormality of the fingernails | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0001903) | Anemia | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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