ORPHA:183422
Polymalformative genetic syndrome with increased risk of developing cancer
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polymalformative genetic syndrome with increased risk of developing cancer | |
| fr | Syndrome polymalformatif génétique à risque de développer un cancer | |
| de | Polymalformatives genetisches Syndrom mit erhöhter Krebsanfälligkeit | |
| es | Síndromes genéticos polimalformativos con aumento del riesgo de desarrollar cáncer | |
| it | Malattia genetica da malformazioni multiple associata a un rischio aumentato di tumore | |
| nl | Polymalformatief genetisch syndroom met verhoogd risico op ontwikkeling van kanker | |
| pt | Síndrome genético polimalformativo com risco aumentado de desenvolvimento de neoplasias | |
| pl | Zespół genetyczny z mnogimi wadami i zwiększonym ryzykiem rozwoju raka | |
| cs | Polymalformativní geneticky podmíněné syndromy se zvýšeným rizikem vzniku nádorů | |
| uk | Поліморбідний генетичний синдром з підвищеним ризиком розвитку раку | |
| zh | 多发畸形遗传综合征伴肿瘤高风险 | |
| tr | Kansere yakalanma riski yüksek olan polimalformatif genetik sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15945 | E | validated | |
| UMLS | C5680589 | 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 (1):
- ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
Children (47):
- ORPHA:50Aicardi syndrome
- ORPHA:52Alagille syndrome
- ORPHA:100Ataxia-telangiectasia
- ORPHA:251347Ataxia-telangiectasia-like disorder
- ORPHA:166113Bazex syndrome
- ORPHA:116Beckwith-Wiedemann syndrome
- ORPHA:125Bloom syndrome
- ORPHA:169079Cernunnos-XLF deficiency
- ORPHA:191Cockayne syndrome
- ORPHA:3071Costello syndrome
- ORPHA:220Denys-Drash syndrome
- ORPHA:124Diamond-Blackfan anemia
- ORPHA:84Fanconi anemia
- ORPHA:347Frasier syndrome
- ORPHA:2128Isolated hemihyperplasia
- ORPHA:99812LIG4 syndrome
- ORPHA:562McCune-Albright syndrome
- ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome
- ORPHA:1052Mosaic variegated aneuploidy syndrome
- ORPHA:2608N syndrome
- ORPHA:647Nijmegen breakage syndrome
- ORPHA:240760Nijmegen breakage syndrome-like disorder
- ORPHA:648Noonan syndrome
- ORPHA:500Noonan syndrome with multiple lentigines
- ORPHA:363972Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
- ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndrome
- ORPHA:306498PTEN hamartoma tumor syndrome
- ORPHA:2849Perlman syndrome
- ORPHA:2869Peutz-Jeghers syndrome
- ORPHA:221016Rothmund-Thomson syndrome type 2
- ORPHA:783Rubinstein-Taybi syndrome
- ORPHA:794Saethre-Chotzen syndrome
- ORPHA:798Schinzel-Giedion syndrome
- ORPHA:50944Schöpf-Schulz-Passarge syndrome
- ORPHA:811Shwachman-Diamond syndrome
- ORPHA:813Silver-Russell syndrome
- ORPHA:373Simpson-Golabi-Behmel syndrome
- ORPHA:821Sotos syndrome
- ORPHA:805Tuberous sclerosis complex
- ORPHA:882Tyrosinemia type 1
- ORPHA:893WAGR syndrome
- ORPHA:280558Warsaw breakage syndrome
- ORPHA:902Werner syndrome
- ORPHA:906Wiskott-Aldrich syndrome
- ORPHA:910Xeroderma pigmentosum
- ORPHA:90342Xeroderma pigmentosum variant
- ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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/183422
- This record as JSON: /data/d/183422.json