Epidermolysis bullosa simplex with pyloric atresia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
EBS WITH PYLORIC ATRESIA EBS-PA |
| Number of Symptoms | 31 |
| OrphanetNr: | 158684 |
| OMIM Id: |
612138
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| ICD-10: |
Q81.0 |
| 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: |
Basal epidermolysis bullosa simplex
-Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000366) | Abnormality of the nose | Frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0000490) | Deeply set eye | 131 / 7739 | ||||
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(HPO:0011830) | Abnormality of oral mucosa | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0000430) | Underdeveloped nasal alae | 90 / 7739 | ||||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0000356) | Abnormality of the outer ear | 85 / 7739 | ||||
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(HPO:0002015) | Dysphagia | Frequent [Orphanet] | 301 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0001561) | Polyhydramnios | Very frequent [Orphanet] | 191 / 7739 | |||
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(HPO:0001622) | Premature birth | Very frequent [Orphanet] | 100 / 7739 | |||
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(HPO:0002577) | Abnormality of the stomach | Very frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0004399) | Congenital pyloric atresia | 3 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0008066) | Abnormal blistering of the skin | 20 / 7739 | ||||
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(HPO:0001030) | Fragile skin | 25 / 7739 | ||||
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(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0001903) | Anemia | Frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0001944) | Dehydration | Frequent [Orphanet] | 59 / 7739 | |||
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(HPO:0100806) | Sepsis | Frequent [Orphanet] | 48 / 7739 | |||
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(HPO:0001522) | Death in infancy | Occasional [Orphanet] | 275 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Hemidesmosomes may be disrupted | 2 / 7739 | ||||
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(OMIM) | Epidermolysis bullosa simplex | 3 / 7739 | ||||
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(OMIM) | Absence of plectin-1 immunostaining | 1 / 7739 | ||||
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(OMIM) | Cleavage occurs within the lower part of basal keratinocytes | 1 / 7739 | ||||
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(OMIM) | Congenital absence of skin in some areas (aplasia cutis) | 1 / 7739 | ||||
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(OMIM) | Extreme skin fragility | 2 / 7739 | ||||
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(OMIM) | Hypoplastic ears fused to the scalp | 1 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(OMIM) | Increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
EBS-PA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. In reports of 2 consensus meetings for EB, Fine et al. (2000, 2008) considered EBS-PA to ... |
| Clinical Description OMIM |
Cowton et al. (1982) reported a female infant born with epidermolysis bullosa, aplasia cutis, and pyloric atresia. The mother had increased alpha-fetoprotein during early pregnancy. Electron microscopy of skin biopsies showed EB simplex. Morrell et al. ... |
| Molecular genetics OMIM |
In 3 Turkish female infants with lethal EBS-PA, Charlesworth et al. (2003) identified a homozygous mutation in the PLEC1 gene (601282.0006). In 2 unrelated patients with lethal EBS-PA, Nakamura et al. (2005) identified compound heterozygous mutations ... |