ORPHA:717846
Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome
Synonyms: TFE3-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- 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 | Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome | TFE3-related neurodevelopmental disorder |
| fr | Syndrome de retard du développement-dysmorphie faciale-hypopigmentation des lignes de Blaschko-obésité-déficience intellectuelle | Trouble du neurodéveloppement associé à TFE3 |
| de | Entwicklungsverzögerung-Gesichtsdysmorphie-Blaschko-Linien-Hypopigmentierung-Adipositas-Intelligenzminderung-Syndrom | TFE3-assoziierte neurologische Entwicklungsstörung · X-chromosomale syndromale intellektuelle Entwicklungsstörung mit Pigmentmosaik und groben Gesichtszügen · MRXSPF |
| es | Síndrome de retraso del desarrollo-dismorfia facial-hipopigmentación a lo largo de las líneas de Blaschko-obesidad-discapacidad intelectual | Trastorno del neurodesarrollo asociado a TFE3 |
| it | Sindrome ritardo dello sviluppo-dismorfismi facciali-ipopigmentazione delle linee di Blaschko-obesità-disabilità intellettiva | Malattia del neurosviluppo correlata a TFE3 |
| nl | Ontwikkelingsachterstand - faciale dysmorfie - hypopigmentatie van lijnen van Blaschko - obesitas - intellectuele achterstand-syndroom | TFE3-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome | |
| pl | Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome | = en |
| cs | Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301066 | 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:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TFE3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11752 | ENSG00000068323 | 314310 | Xp11.23 | transcription factor binding to IGHM enhancer 3 | 30595499[PMID]_31833172[PMID] |
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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/717846
- This record as JSON: /data/d/717846.json