ORPHA:685067
Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome
Synonyms: ARED14 · Autosomal recesive ectodermal dysplasia 14
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- 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 | Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome | ARED14 · Autosomal recesive ectodermal dysplasia 14 |
| fr | Syndrome d'hypodontie-hypotrichose du cuir chevelu-dysmorphie facial | ARED14 · Dysplasie ectodermique 14 autosomique récessive |
| de | Hypodontie-Hypothrichose der Kopfhaut-Gesichtsdysmorphien-Syndrom | Ektodermale Dysplasie 14 · ARED14 · Dysplasie, ektodermale, autosomal-rezessive, Typ 14 |
| es | Síndrome de hipodoncia-hipotricosis del cuero cabelludo-dismorfia facial | ARED14 · Displasia ectodérmica 14 autosómica recesiva · Displasia ectodérmica autosómica recesiva 14 |
| it | Sindrome ipodontia-ipotricosi del cuoio capelluto-dismorfismi facciali | ARED14 · Displasia ectodermica autosomica recessiva 14 · Displasia ectodermica 14 |
| nl | Hypodontie - hypotrichose van scalp - faciale dysmorfie-syndroom | ARED14 · Autosomaal recessieve ectodermale dysplasie 14 |
| pt | Síndrome de hipodontia-hipotricose do escalpe-dismorfia facial | ARED14 · Displasia ectodérmica 14 · Displasia ectodérmica autossómica recessiva 14 |
| pl | Zespół hipodoncji, hipotrychozy i dysmorfii twarzy | = en |
| cs | Syndrom zahrnující hypodoncii, hypotrichózu skalpu a faciální dysmorfii | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618180 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | attributed | validated |
| MONDO | 32584 | 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 (4):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSPEAR | Disease-causing germline mutation(s) in | Assessed | HGNC:1268 | ENSG00000175894 | 612920 | 21q22.3 | thrombospondin type laminin G domain and EAR repeats | 27736875[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/685067
- This record as JSON: /data/d/685067.json