ORPHA:726799
TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome
Synonyms: TSHZ3-related CAKUT-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- 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 | TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome | TSHZ3-related CAKUT-intellectual disability syndrome |
| fr | Syndrome d'anomalies congénitales des reins et des voies urinaires-déficience intellectuelle associé à TSHZ3 | Syndrome de CAKUT-déficience intellectuelle associé à TSHZ3 |
| de | Syndromale kongenitale Fehlbildungen der Nieren und Harnwege mit Intelligenzminderung, TSHZ3-assoziiert | TSHZ3-assoziiertes CAKUT-Intelligenzminderung-Syndrom |
| es | Síndrome de anomalías congénitas renales y del tracto urinario-discapacidad intelectual asociado al gen TSHZ3 | Síndrome CAKUT-discapacidad intelectual asociado al gen TSHZ3 |
| it | Sindrome anomalie congenite dei reni e delle vie urinarie-disabilità intellettiva correlata a TSHZ3 | Sindrome CAKUT-disabilità intellettiva correlata a TSHZ3 |
| nl | TSHZ3-gerelateerd congenitale anomalieën van nier of urinewegen - intellectuele achterstand-syndroom | TSHZ3-gerelateerd CAKUT - intellectuele achterstand-syndroom |
| pt | TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome | |
| pl | TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome | = en |
| cs | TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSHZ3 | Disease-causing germline mutation(s) in | Assessed | HGNC:30700 | ENSG00000121297 | 614119 | 19q12 | teashirt zinc finger homeobox 3 | 36553458[PMID]_39420202[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/726799
- This record as JSON: /data/d/726799.json