ORPHA:79403
Junctional epidermolysis bullosa with pyloric atresia
Synonyms: Carmi syndrome · JEB with pyloric atresia · JEB-PA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A severe form of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Junctional epidermolysis bullosa with pyloric atresia | Carmi syndrome · JEB with pyloric atresia · JEB-PA |
| fr | Epidermolyse bulleuse jonctionnelle avec atrésie pylorique | EBJ avec atrésie pylorique · EBJ-AP · Epidermolyse bulleuse jonctionnelle avec atrésie du pylore · Syndrome de Carmi |
| de | Junktionale Epidermolysis bullosa mit Pylorusatresie | Carmi-Syndrom · EBJ-PA |
| es | Epidermólisis ampollosa juntural con atresia pilórica | Epidermólisis bullosa juntural con atresia pilórica · JEB con atresia pilórica · Síndrome de Carmi |
| it | Epidermolisi bollosa giunzionale con atresia del piloro | JEB con atresia pilorica · JEB-PA · Sindrome di Carmi |
| nl | Junctionele epidermolysis bullosa met pylorusatresie | Syndroom van Carmi · JEB met pylorusatresie · JEB-PA |
| pt | Epidermólise bolhosa juncional com atrésia do piloro | JEB-PA · Síndrome Carmi |
| pl | Pęcherzowe oddzielanie się naskórka graniczne z zarośnięciem odźwiernika | Zespół Carmi |
| cs | Syndrom zahrnující junkční epidermolysis bullosa a atrézii pyloru | Carmiové syndrom · JEB-PA |
| uk | Межовий бульозний епідермоліз з атрезією пілоруса | Синдром Кармі · БЕЗ з атрезією пілоричного відділу шлунка · БЕЗ-PA |
| zh | 交界型大疱性表皮松解症-幽门闭锁综合征 | Carmi综合征 |
| tr | Junctional epidermolizis bülloza-pilorik atrezi sendromu | JEB-PA · Carmi sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226730 | BTNT | validated | |
| OMIM | 619817 | BTNT | validated | |
| ICD-10 | Q81.8 | NTBT | attributed | validated |
| ICD-11 | EC31 | NTBT | index | validated |
| MONDO | 0009183 | E | validated | |
| MeSH | C535377 | E | validated | |
| UMLS | C1856934 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:305Junctional epidermolysis bullosa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ITGA6 | Disease-causing germline mutation(s) in | Assessed | HGNC:6142 | ENSG00000091409 | 147556 | 2q31.1 | integrin subunit alpha 6 | 9185503[PMID]_20301336[PMID] |
| ITGB4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6158 | ENSG00000132470 | 147557 | 17q25.1 | integrin subunit beta 4 | 11328943[PMID]_20301336[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 20301336[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301336[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0004399 | Congenital pyloric atresia | |
| HP:0011100 | Intestinal atresia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0200097 | Oral mucosal blisters | |
| Frequent (79-30%) | ||
| HP:0010477 | Aplasia of the bladder | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000790 | Hematuria | |
| HP:0000126 | Hydronephrosis | |
| HP:0001561 | Polyhydramnios | |
| HP:0001581 | Recurrent skin infections | |
| HP:0000075 | Renal duplication | |
| HP:0000110 | Renal dysplasia | |
| HP:0000070 | Ureterocele | |
| HP:0012227 | Urethral stricture | |
| HP:0100577 | Urinary bladder inflammation | |
| Occasional (29-5%) | ||
| HP:0001057 | Aplasia cutis congenita | |
| HP:0000656 | Ectropion | |
| HP:0008404 | Nail dystrophy | |
| HP:0001059 | Pterygium | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301336[PMID]_20507631[PMID]_20301481[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79403
- This record as JSON: /data/d/79403.json