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Myhre syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
Proteus syndrome
1 OMIM reference -
2 associated genes
96 signs/symptoms
Myhre syndrome
Proteus syndrome

SMAD4
(UniProt - OMIM)
 AKT1
(UniProt - OMIM)
PTEN
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SMAD4
(0.89)
AKT1


Citations in the biomedical literature:


Myhre syndrome
SMAD4
Proteus syndrome
AKT1 PTEN



Myhre syndrome
Proteus syndrome

Synonym(s):
- Facial dysmorphism - intellectual deficit - short stature - hearing loss
Synonym(s):
- Partial gigantism - nevi - hemihypertrophy - macrocephaly
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
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 -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
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 -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D016715
COMMON
SIGNS 		- Cataract / lens opacification
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Ptosis
- Restricted joint mobility / joint stiffness / ankylosis
- Thick skin / pachydermia / orange skin

Myhre syndrome
Proteus syndrome

Very frequent
- Anomalies of the ribs
- Hearing loss / hypoacusia / deafness
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intrauterine growth retardation
- Microstomia / little mouth
- Mid-facial hypoplasia / short / small midface
- Muscle hypertrophy
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Prognathism / prognathia
- Short hand / brachydactyly
- Short philtrum
- Short stature / dwarfism / nanism
- Thin / retracted lips

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Blepharophimosis / short palpebral fissures
- Cardiac septal defect
- Chronic arterial hypertension
- Epiphyseal anomaly
- Hypermetropia
- Metaphyseal anomaly
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Late puberty / hypogonadism / hypogenitalism
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Precocious puberty
- Psychic / behavioural troubles


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
- 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
- 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
- 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
- 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
- Renal cyst (single)
- 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