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Autosomal recessive malignant osteopetrosis
4 OMIM references -
4 associated genes
45 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
Proteus syndrome
1 OMIM reference -
2 associated genes
96 signs/symptoms
Autosomal recessive malignant osteopetrosis
Proteus syndrome

CLCN7
(UniProt - OMIM)
 AKT1
(UniProt - OMIM)
SNX10
(UniProt - OMIM)
 PTEN
(UniProt - OMIM)
TCIRG1
(UniProt - OMIM)
TNFSF11
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TNFSF11
(0.55)
AKT1


Citations in the biomedical literature:


Autosomal recessive malignant osteopetrosis
CLCN7 SNX10 TCIRG1 TNFSF11
Proteus syndrome
AKT1 PTEN



Autosomal recessive malignant osteopetrosis
Proteus syndrome

Synonym(s):
- Infantile malignant osteopetrosis
Synonym(s):
- Partial gigantism - nevi - hemihypertrophy - macrocephaly
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic 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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D016715
COMMON
SIGNS 		- Craniostenosis / craniosynostosis / sutural synostosis
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Splenomegaly

Autosomal recessive malignant osteopetrosis
Proteus syndrome

Very frequent
- Abnormal hair texture / hair dysplasia
- Abnormal VEP / Visual evoked potential
- Anaemia
- Anomalies of the ribs
- Autosomal recessive inheritance
- Bone pain
- Bowed diaphysis / diaphyses / long bones
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Ecchymoses
- Epiphyseal anomaly
- Fever / chilling
- Hearing loss / hypoacusia / deafness
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hydrocephaly
- Lymphadenopathy / polyadenopathies
- Metabolic anomalies
- Metaphyseal anomaly
- Movement disorder
- Mutiple fractures / bone fragility
- Narrow rib cage / thorax
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Osteosclerosis / osteopetrosis / bone condensation
- Pallor
- Premature lost of decidious teeth
- Purpura / petichiae
- Repeat respiratory infections
- Tremor
- Visual loss / blindness / amblyopia

Occasional
- Apnea / sleep apnea
- Cranial nerves palsy
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hypocalcemia
- Hypophosphatemia
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Pulmonary hypertension
- Pulmonary valve anomaly / incompetence / insufficiency / regurgitation


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
- 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)
- 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
- 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
- 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
- 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
- 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