ORPHA:2969
Proteus-like syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic disease characterized by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proteus-like syndrome | |
| fr | Syndrome Proteus-like | |
| de | Proteus-ähnliches Syndrom | |
| es | Síndrome similar a Proteus | Síndrome de Proteus-like |
| it | Sindrome Proteus-simile | |
| nl | Proteus-achtig syndroom | |
| pt | Síndrome Proteus-like | |
| pl | Zespół podobny do zespołu Proteusa | Zespół Cohena i Haydena |
| cs | Proteus-like syndrom | Cohenův-Haydenův syndrom · Cohen-Haydenův syndrom |
| uk | Протеус-подібний синдром | |
| zh | 类变形杆菌综合征 | Cohen-Hayden综合征 |
| tr | Proteus-benzeri sendrom | Cohen-Hayden sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158350 | NTBT | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0017571 | E | validated | |
| UMLS | C1866398 | E | validated | |
| GARD | 12801 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:306498PTEN hamartoma tumor syndrome
rare developmental anomalies during embryogenesis; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases - ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTEN | Disease-causing germline mutation(s) in | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 10749983[PMID]_20301661[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
6
HPO phenotypes
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000615 | Abnormal pupil morphology | |
| HP:0010816 | Epidermal nevus | |
| HP:0002816 | Genu recurvatum | |
| HP:0001028 | Hemangioma | |
| HP:0100774 | Hyperostosis | |
| HP:0001249 | Intellectual disability | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0001140 | Limbal dermoid | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0000545 | Myopia | |
| HP:0010807 | Open bite | |
| HP:0001031 | Subcutaneous lipoma | |
| Frequent (79-30%) | ||
| HP:0000828 | Abnormality of the parathyroid gland | |
| HP:0000518 | Cataract | |
| HP:0001334 | Communicating hydrocephalus | |
| HP:0100777 | Exostoses | |
| HP:0001100 | Heterochromia iridis | |
| HP:0000238 | Hydrocephalus | |
| HP:0000256 | Macrocephaly | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000541 | Retinal detachment | |
| HP:0009721 | Shagreen patch | |
| HP:0005293 | Venous insufficiency | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0100730 | Bronchogenic cyst | |
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000147 | Polycystic ovaries | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001744 | Splenomegaly | |
| HP:0010516 | Thymus hyperplasia | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2969
- This record as JSON: /data/d/2969.json