ORPHA:694946
Alazami-Yuan syndrome
Synonyms: ALYUS · Developmental delay-facial dysmorphism-hirsutism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alazami-Yuan syndrome | ALYUS · Developmental delay-facial dysmorphism-hirsutism syndrome |
| fr | Syndrome d'Alazami-Yuan | ALYUS · Syndrome de retard du développement-dysmorphie faciale-hirsutism |
| de | Alazami-Yuan-Syndrom | ALYUS · Entwicklungsverzögerung-Gesichtsdysmorphien-Hirsutismus-Syndrom |
| es | Síndrome de Alazami-Yuan | ALYUS · Síndrome de retraso del desarrollo-dismorfia facial-hirsutismo |
| it | Sindrome di Alazami-Yuan | ALYUS · Sindrome ritardo dello sviluppo-dismorfismi facciali-irsutismo |
| nl | ASyndroom van Alazami-Yuan | ALYUS · Ontwikkelingsachterstand - faciale dysmorfie - hirsutisme-syndroom |
| pt | Alazami-Yuan syndrome | |
| pl | Alazami-Yuan syndrome | = en |
| cs | Alazami-Yuan syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617126 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | 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 (5):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:79365Rare disorder with hypertrichosis
rare genetic diseases; rare skin diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TAF6 | Disease-causing germline mutation(s) in | Assessed | HGNC:11540 | ENSG00000106290 | 602955 | 7q22.1 | TATA-box binding protein associated factor 6 | 25574841[PMID]_32030742[PMID]_35317131[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25558065[PMID]_25574841[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 25558065[PMID]_25574841[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/694946
- This record as JSON: /data/d/694946.json