ORPHA:708036
Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth | |
| fr | Dysplasie ectodermique avec agénésie des incisives latérales maxillaires et des dents antérieures mandibulaires | |
| de | Ektodermale Dysplasie-Syndrom mit Agenesie der oberen seitlichen Schneidezähne und der vorderen Unterkieferzähne | |
| es | Displasia ectodérmica con agenesia de incisivos laterales maxilares y dientes anteriores mandibulares | |
| it | Displasia ectodermica con agenesia degli incisivi laterali della mascella e dei denti anteriori della mandibola | |
| nl | Ectodermale dysplasie met agenesie van maxillaire laterale incisieven en mandibulaire anterieure gebitselementen | Ectodermale dysplasie met agenesie van bovenste laterale snijtanden en ondertanden |
| pt | Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth | |
| pl | Dysplazja ektodermalna z agenezją bocznych siekaczy szczęki i przednich zębów żuchwy | |
| cs | Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth |
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Cross-references
qualifier = Orphanet mapping relationE 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:79373Ectodermal dysplasia syndrome
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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KREMEN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17550 | ENSG00000183762 | 609898 | 22q12.1 | kringle containing transmembrane protein 1 | 27049303[PMID]_28813618[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 27049303[PMID]_28813618[PMID]_29526031[PMID]_34028942[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27049303[PMID]_28813618[PMID]_29526031[PMID]_34028942[PMID]_ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/708036
- This record as JSON: /data/d/708036.json