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Proteus syndrome
1 OMIM reference -
2 associated genes
250 connected diseases
96 signs/symptoms
Disease Type of connection
Cowden syndrome
Hereditary breast and ovarian cancer syndrome
Bannayan-Riley-Ruvalcaba syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Young adult-onset Parkinsonism
Familial pancreatic carcinoma
Amyotrophic lateral sclerosis
Lymphangioleiomyomatosis
Tuberous sclerosis
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Craniopharyngioma
Acute promyelocytic leukemia
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
LEOPARD syndrome
Noonan syndrome
Pilocytic astrocytoma
X-linked lymphoproliferative disease
Precursor B-cell acute lymphoblastic leukemia
Idiopathic hypereosinophilic syndrome
Neurofibromatosis type 3
Multiple endocrine neoplasia type 1
Cerebellar ataxia - hypogonadism
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Inflammatory myofibroblastic tumor
Typical nemaline myopathy
Estrogen resistance syndrome
Autosomal dominant methemoglobinemia
X-linked non-syndromic intellectual deficit
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Dedifferentiated liposarcoma
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Well-differentiated liposarcoma
Combined immunodeficiency due to STK4 deficiency
Alveolar rhabdomyosarcoma
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Precursor T-cell acute lymphoblastic leukemia
Primary peritoneal carcinoma
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Dyskeratosis congenita
Familial melanoma
Hoyeraal-Hreidarsson syndrome
Idiopathic aplastic anemia
Idiopathic pulmonary fibrosis
Multiple endocrine neoplasia type 4
Severe combined immunodeficiency due to DNA-PKcs deficiency
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Unclassified chronic myeloproliferative disease
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Classical progressive supranuclear palsy
Distal hereditary motor neuropathy type 2
Fanconi anemia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Isolated focal cortical dysplasia type IIb
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Pulverulent cataract
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Neurofibromatosis type 2
Annular epidermolytic ichthyosis
Congenital reticular ichthyosiform erythroderma
Epidermolytic ichthyosis
Adult-onset distal myopathy due to VCP mutation
Bohring-Opitz syndrome
Glucocorticoid resistance
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Spastic paraplegia - Paget disease of bone
Autosomal dominant hypohidrotic ectodermal dysplasia
Pediatric systemic lupus erythematosus
Baraitser-Winter syndrome
Cap myopathy
Developmental malformations - deafness - dystonia
Digitotalar dysmorphism
Parkinsonian-pyramidal syndrome
Sheldon-Hall syndrome
Trismus - pseudocamptodactyly
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Atypical teratoid tumor
Cerebellar ataxia-deafness-narcolepsy syndrome
Coffin-Siris syndrome
Familial multiple meningioma
Familial rhabdoid tumor
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Weaver syndrome
Catecholaminergic polymorphic ventricular tachycardia
Peutz-Jeghers syndrome
Familial partial lipodystrophy due to AKT2 mutations
Hypoinsulinemic hypoglycemia and body hemihypertrophy
1p36 deletion syndrome
Autosomal agammaglobulinemia
Cardiofaciocutaneous syndrome
Familial cylindromatosis
Familial multiple trichoepithelioma
Hairy cell leukemia
Hashimoto-Pritzker syndrome
SHORT syndrome
Shprintzen-Goldberg syndrome
Spinocerebellar ataxia type 1
17p13.3 microduplication syndrome
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Atypical Mayer-Rokitansky-Küster-Hauser syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal recessive cutis laxa type 2, classic type
Autosomal recessive epidermolysis bullosa simplex
BAP1-related tumor predisposition syndrome
Beta-thalassemia intermedia
Beta-thalassemia major
Blepharophimosis-intellectual deficit syndrome, MKB type
CLOVE syndrome
Charcot-Marie-Tooth disease type 4G
Common variable immunodeficiency
Congenital contractural arachnodactyly
Congenital myopathy with excess of thin filaments
Congenital pulmonary alveolar proteinosis
Delta-beta-thalassemia
Dermatopathia pigmentosa reticularis
Distal 17p13.3 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome
Distal hereditary motor neuropathy type 7
Dominant beta-thalassemia
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
FG syndrome type 1
Familial gastric cancer
Gastric linitis plastica
Gastrointestinal stromal tumor
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Globozoospermia
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Hb Bart's hydrops fetalis
Heinz body anemia
Hemimegalencephaly
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Hemoglobin H disease
Hemoglobin Lepore - beta-thalassemia
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Hereditary nonpolyposis colon cancer
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Intermediate nemaline myopathy
Isolated CoQ-cytochrome C reductase deficiency
Juvenile myelomonocytic leukemia
Lethal congenital contracture syndrome type 2
Localized epidermolysis bullosa simplex
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Miller-Dieker syndrome
Myeloid neoplasm associated with PDGFRA rearrangement
Naegeli-Franceschetti-Jadassohn syndrome
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Papillary or follicular thyroid carcinoma
Perry syndrome
Persistent Müllerian duct syndrome
SERKAL syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Severe congenital nemaline myopathy
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Spinocerebellar ataxia type 11
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Syndromic diarrhea
Translocation renal cell carcinoma
Wrinkly skin syndrome
X-linked intellectual deficit with marfanoid habitus
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Acute basophilic leukemia
Autosomal recessive malignant osteopetrosis
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Hereditary sensory and autonomic neuropathy type 2
Huntington disease
Juvenile Huntington disease
Melanoma of soft part
Pseudohypoaldosteronism type 2C
Thrombocytopenia with congenital dyserythropoietic anemia
Uveal coloboma - cleft lip and palate - intellectual deficit
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Acute myeloid leukemia
Autosomal dominant macrothrombocytopenia
Chronic granulomatous disease
Chronic mucocutaneous candidiasis
Deafness - lymphedema - leukemia
Fetal and neonatal alloimmune thrombocytopenia
Glanzmann thrombasthenia
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Monocytopenia with susceptibility to infections
Myelodysplastic syndromes
Pseudohypoaldosteronism type 2B
Susceptibility to viral and mycobacterial infections
Synonym(s):
- Partial gigantism - nevi - hemihypertrophy - macrocephaly

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: D016715

Gene symbol UniProt reference OMIM reference
AKT1 P31749164730
PTEN P60484601728
Very frequent
- Abnormal fat distribution / lipodystrophy
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Abnormal vertebral size / shape
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Asymmetric rib cage / thorax
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Autosomal dominant inheritance
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Follicular / erythematous / edematous papules / milium
- Irregular / in bands / reticular skin hyperpigmentation
- Kyphosis
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lymphangioma / lymphatic malformations
- Macrodactyly / fingers hypertrophy / megalodactyly (hand)
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Pigmented naevi / naevus pigmentosus / lentigo
- Scoliosis
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Tall stature / gigantism / growth acceleration
- Thick skin / pachydermia / orange skin
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Vascular anomalies of skin / mucosae
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Xanthomas / lipomas

Frequent
- Bronchogenic cyst
- Cafe-au-lait spot
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Dolichocephaly / scaphocephaly
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hyperostosis
- Hypertelorism
- Lymphedema
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pulmonary thromboembolism
- Syndactyly of fingers / interdigital palm
- Visceral angiomatosis (excluding skin)

Occasional
- Abnormal / polycystic ovaries
- Anodontia / oligodontia / hypodontia
- Anomalies of the neck
- Anteverted nares / nostrils
- Arterial embolism / thrombosis
- Buphthalmos
- Cataract / lens opacification
- Clinodactyly of fifth finger
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Congenital cardiac anomaly / malformation / cardiopathy
- Craniostenosis / craniosynostosis / sutural synostosis
- Depressed nasal bridge
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Enamel anomaly
- Exostoses
- External auditory canal atresia / stenosis / agenesis
- Flared / thick ala nasi
- Follicular / conjunctival hamartomas
- Glaucoma
- Hallux valgus
- Heterochromia / mixed colouring of iris
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hirsutism / hypertrichosis / Increased body hair
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long face
- Low set ears / posteriorly rotated ears
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Macroorchidism / macrotestes
- Macropenis / megapenis / large penis
- Meningioma
- Multiple caries
- Myopathy
- Myopia
- Nails anomalies
- Oropharyngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Proptosis / exophthalmos
- Ptosis
- Renal cyst (single)
- Restricted joint mobility / joint stiffness / ankylosis
- Retinal detachment
- Retinal hamartoma
- Retinitis pigmentosa / retinal pigmentary changes
- Retinoschisis / retinal / chorioretinal coloboma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sirenomelia / mermaid / lower limb fusion
- Splenomegaly
- Strabismus / squint
- Structural and functional anomalies of the spleen
- Talipes-valgus
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Thymic hyperplasia
- Thymus / thymic neoplasm / tumor / carcinoma / cancer / thymoma
- Venous thrombosis / phlebitis / thrombophlebitis
- Wrist / carpal anomalies