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Hyperostosis corticalis generalisata
2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Norrie disease
1 OMIM reference -
1 associated gene
64 signs/symptoms
Hyperostosis corticalis generalisata
Norrie disease

LRP5
(UniProt - OMIM)
 NDP
(UniProt - OMIM)
SOST
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LRP5
(0.63)
NDP


Citations in the biomedical literature:


Hyperostosis corticalis generalisata
LRP5 SOST
Norrie disease
NDP



Hyperostosis corticalis generalisata
Norrie disease

Synonym(s):
- Van Buchem disease
Synonym(s):
- Atrophia bulborum hereditaria
- Episkopi blindness
- Norrie-Warburg disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537849
COMMON
SIGNS 		- Sensorineural deafness / hearing loss

Hyperostosis corticalis generalisata
Norrie disease

Very frequent
- Autosomal recessive inheritance
- Clavicle absent / abnormal
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlarged diaphysis / diaphyses
- Enlargment of jaw / large jaw
- Osteosclerosis / osteopetrosis / bone condensation
- Prognathism / prognathia

Frequent
- Facial palsy



Very frequent
- Aniridia / iris hypoplasia
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Deepset eyes / enophthalmos
- Eye neoplasm / tumor / carcinoma / cancer
- Hypotelorism
- Iridocorneal / iridolenticular synechiae
- Long / large ear
- Narrow nasal bridge
- Retinal vascular anomalies / retinal telangiectasia
- Retinal / chorioretinal dysplasia / dystrophy
- Sclerocornea
- Vascular malignancy / tumor
- Visual loss / blindness / amblyopia
- X-linked recessive inheritance

Frequent
- Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Impotence / painful erection / priapism / erection troubles
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Nystagmus
- Psychosis / schizophrenia / maniac disorder
- Retinal detachment
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Tics / stereotypias
- Varices / varicous veins / venous insufficiency
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Occasional
- Autism / autistic disoders
- Auto-aggressivity / auto-mutilation
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Delirium / hallucination
- Diabetes mellitus
- Early death / lethality
- EEG anomalies
- Facial pain / cephalalgia / migraine
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat cheek bones / malar hypoplasia
- Glaucoma
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- Hyperactivity / attention deficit
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Late puberty / hypogonadism / hypogenitalism
- Lens dislocation / luxation / subluxation / ectopia lentis
- Microcephaly
- Midbrain / brainstem / pons / medulla anomalies
- Muscle weakness / flaccidity
- Myoclonus / fasciculations
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Prominent / bat ears
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sleep and vigilance disorders
- Thalamic / hypothalamic defect
- Thin / retracted lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy