ORPHA:88924
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Synonyms: PKDTS · TSC2/PKD1 contiguous gene syndrome · Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis | PKDTS · TSC2/PKD1 contiguous gene syndrome · Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome |
| fr | Polykystose rénale autosomique dominante type 1 avec sclérose tubéreuse | Syndrome des gènes contigus TSC2/PKD1 · Syndrome du gène contigu de la sclérose tubéreuse/polykystose rénale |
| de | Nierenkrankheit, polyzystische, autosomal-dominante, Typ 1, mit tuberöser Sklerose | PKDTS · TSC2/PKD1-Contigous gene deletion-Syndrom · Tuberöse Sklerose/polyzystische Nierenkrankheit-Contigous gene deletion-Syndrom |
| es | Enfermedad del riñón poliquístico autosómica dominante tipo 1 con esclerosis tuberosa | PKDTS · Síndrome de genes contiguos TSC2/PKD1 · Síndrome de genes contiguos con esclerosis tuberosa/enfermedad renal poliquística |
| it | Rene policistico autosomico dominante tipo 1, con sclerosi tuberosa | PKDTS · Sindrome da geni contigui TSC2/PKD1 · Sindrome da geni contigui, sclerosi tuberosa e rene policistico |
| nl | Autosomaal dominante polycystische nierziekte type 1 met tubereuze sclerose | PKDTS · TSC2/PKD1-'contiguous gene'-syndroom · Tubereuze sclerose/polycystische nierziekte 'contiguous gene'-syndroom |
| pt | Doença renal poliquística autossómica dominante tipo 1 com esclerose tuberosa | |
| pl | Autosomalna dominująca wielotorbielowatość nerek typu 1 ze stwardnieniem guzowatym | Zespół przyległych genów stwardnienie guzowate/wielotorbielowatość nerek |
| cs | Autozomálně dominantní polycystóza ledvin, typ 1 s tuberózní sklerózou | Mikrodeleční syndrom zahrnující tuberózní sklerózu a polycystózu ledvin |
| uk | Аутосомно-домінантний полікістоз нирок типу 1 з туберозним склерозом | PKDTS · Синдром зчепленого гена TSC2/PKD1 · Синдром туберозного склерозу/полікістозу нирок - суміжного гена |
| zh | 常染色体显性遗传多囊肾病1型伴结节性硬化症 | 结节性硬化/多囊肾相邻基因综合征 |
| tr | Tüberoskleroz ile seyreden otozomal dominant polikistik böbrek hastalığı tip 1 | Tüberoskleroz / polikistik böbrek hastalığı bitişik gen sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600273 | E | validated | |
| ICD-10 | Q61.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010856 | E | validated | |
| UMLS | C1838327 | E | validated | |
| GARD | 9481 | 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:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:261956Partial deletion of the short arm of chromosome 16 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:156162Renal ciliopathy
rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PKD1 | Role in the phenotype of | Assessed | HGNC:9008 | ENSG00000008710 | 601313 | 16p13.3 | polycystin 1, transient receptor potential channel interacting | 15007723[PMID]_22169896[PMID] |
| TSC2 | Role in the phenotype of | Assessed | HGNC:12363 | ENSG00000103197 | 191092 | 16p13.3 | TSC complex subunit 2 | 15007723[PMID]_22169896[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 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/88924
- This record as JSON: /data/d/88924.json