ORPHA:744
Proteus syndrome
Synonyms: Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy
- Status
- active
A rare complex overgrowth syndrome characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proteus syndrome | Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome |
| fr | Syndrome de Protée | Syndrome de Proteus · Syndrome de gigantisme partiel-hémihypertrophie-macrocéphalie |
| de | Proteus-Syndrom | Partieller Gigantismus - Naevi - Hemihypertrophie - Makrozephalie |
| es | Síndrome de Proteus | |
| it | Sindrome Proteus | Gigantismo parziale - emipertrofia - macrocefalia |
| nl | Proteus-syndroom | Partieel gigantisme - naevi - hemihypertrofie - macrocefalie-syndroom |
| pt | Síndrome Proteus | Síndrome de gigantismo parcial-nevos-hemihipertrofia-macrocefalia |
| pl | Zespół Proteusa | Częściowy gigantyzm - znamię - przerost połowiczy - makrocefalia |
| cs | Proteův syndrom | Syndrom zahrnující parciální gigantismus, névy, hemihypertrofii a makrocefalii |
| uk | Синдром Протея | Синдром часткового гігантизму-невуса-гемігіпертрофії-макроцефалії |
| zh | Proteus综合征 | 局部巨人症-痣-偏侧肥大-巨颅畸形综合征 |
| tr | Proteus sendromu | Kısmi jigantizm-nevüs-hemihipertrofi-makrosefali sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176920 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | index | validated |
| MONDO | 0008318 | E | validated | |
| MeSH | D016715 | E | validated | |
| UMLS | C0085261 | E | validated | |
| GARD | 7475 | E | validated | |
| MedDRA | 10074067 | 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 (9):
- ORPHA:459537Genetic complex vascular malformation with associated anomalies
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:166466Neurocutaneous syndrome with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:211277Syndromic combined vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AKT1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:391 | ENSG00000142208 | 164730 | 14q32.33 | AKT serine/threonine kinase 1 | 21793738[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | <1 / 1 000 000 | — | Europe | Class only | Validated | 21793738[PMID]_[EXPERT] |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | 21793738[PMID]_[EXPERT]_European Medicines Agency 2018[OTHER] |
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
115 annotations · validated 2023-10-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | |
| HP:0001167 | Abnormality of finger | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0100555 | Asymmetric growth | Diagnostic criterion |
| HP:0001555 | Asymmetry of the thorax | |
| HP:0004326 | Cachexia | |
| HP:0005306 | Capillary hemangioma | |
| HP:0004437 | Cranial hyperostosis | Diagnostic criterion |
| HP:0003199 | Decreased muscle mass | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0010816 | Epidermal nevus | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0002808 | Kyphosis | |
| HP:0012032 | Lipoma | Diagnostic criterion |
| HP:0100559 | Lower limb asymmetry | |
| HP:0100764 | Lymphangioma | |
| HP:0004099 | Macrodactyly | |
| HP:0000995 | Melanocytic nevus | |
| HP:0001548 | Overgrowth | |
| HP:0002650 | Scoliosis | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0001072 | Thickened skin | |
| HP:0100560 | Upper limb asymmetry | |
| HP:0011276 | Vascular skin abnormality | |
| Frequent (79-30%) | ||
| HP:0002101 | Abnormal lung lobation | |
| HP:0100730 | Bronchogenic cyst | |
| HP:0004490 | Calvarial hyperostosis | |
| HP:0025104 | Capillary malformation | Diagnostic criterion |
| HP:6000009 | Cerebriform connective tissue nevus | Diagnostic criterion |
| HP:0000268 | Dolichocephaly | Diagnostic criterion |
| HP:0004459 | Exostosis of the external auditory canal | Diagnostic criterion |
| HP:0006101 | Finger syndactyly | |
| HP:0005595 | Generalized hyperkeratosis | |
| HP:0010566 | Hamartoma | |
| HP:0100774 | Hyperostosis | |
| HP:0000316 | Hypertelorism | |
| HP:0009125 | Lipodystrophy | Diagnostic criterion |
| HP:0001004 | Lymphedema | |
| HP:0000400 | Macrotia | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0032446 | Pulmonary bulla | Diagnostic criterion |
| HP:0032445 | Pulmonary cyst | Diagnostic criterion |
| HP:0002204 | Pulmonary embolism | Diagnostic criterion |
| HP:0000896 | Rib exostoses | Diagnostic criterion |
| HP:0000311 | Round face | |
| HP:0004418 | Thrombophlebitis | |
| HP:0012721 | Venous malformation | Diagnostic criterion |
| HP:0034275 | Verrucous epidermal nevus | Diagnostic criterion |
| HP:0100761 | Visceral angiomatosis | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000464 | Abnormality of the neck | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0000463 | Anteverted nares | Diagnostic criterion |
| HP:0004420 | Arterial thrombosis | Diagnostic criterion |
| HP:0000557 | Buphthalmos | |
| HP:0000670 | Carious teeth | |
| HP:0000518 | Cataract | |
| HP:0007818 | Central heterochromia | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001363 | Craniosynostosis | |
| HP:0005280 | Depressed nasal bridge | Diagnostic criterion |
| HP:0000873 | Diabetes insipidus | |
| HP:0000494 | Downslanted palpebral fissures | Diagnostic criterion |
| HP:0000105 | Enlarged kidney | Diagnostic criterion |
| HP:0008675 | Enlarged polycystic ovaries | |
| HP:0100777 | Exostoses | |
| HP:0000324 | Facial asymmetry | |
| HP:0002230 | Generalized hirsutism | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0000501 | Glaucoma | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0001822 | Hallux valgus | |
| HP:0002827 | Hip dislocation | |
| HP:0001249 | Intellectual disability | |
| HP:0001387 | Joint stiffness | |
| HP:0000276 | Long face | Diagnostic criterion |
| HP:0000040 | Long penis | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000053 | Macroorchidism | |
| HP:0002858 | Meningioma | Diagnostic criterion |
| HP:0010508 | Metatarsus valgus | |
| HP:0003715 | Myofibrillar myopathy | |
| HP:0000545 | Myopia | |
| HP:0011386 | Narrow internal auditory canal | |
| HP:0002664 | Neoplasm | |
| HP:0100006 | Neoplasm of the central nervous system | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0100521 | Neoplasm of the thymus | |
| HP:0000194 | Open mouth | Diagnostic criterion |
| HP:0100615 | Ovarian neoplasm | Diagnostic criterion |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| HP:0002719 | Recurrent infections | |
| HP:0000107 | Renal cyst | |
| HP:0009594 | Retinal hamartoma | |
| HP:0007899 | Retinal nonattachment | |
| HP:6000007 | Salivary basal cell adenoma | Diagnostic criterion |
| HP:0001250 | Seizure | |
| HP:0010497 | Sirenomelia | |
| HP:0001744 | Splenomegaly | Diagnostic criterion |
| HP:0000486 | Strabismus | |
| HP:0001645 | Sudden cardiac death | |
| HP:0010788 | Testicular neoplasm | Diagnostic criterion |
| HP:0009928 | Thick nasal alae | |
| HP:0010516 | Thymus hyperplasia | Diagnostic criterion |
| HP:0009804 | Tooth agenesis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 16883308[PMID]_22876373[PMID]_23992099[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/744
- This record as JSON: /data/d/744.json