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Intermediate osteopetrosis
1 OMIM reference -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
Albers-Schönberg osteopetrosis
1 OMIM reference -
1 associated gene
29 signs/symptoms
Intermediate osteopetrosis
Albers-Schönberg osteopetrosis

CLCN7
(UniProt - OMIM)
 CLCN7
(UniProt - OMIM)
PLEKHM1
(UniProt - OMIM)

COMMON
GENES 		CLCN7


Citations in the biomedical literature:


Intermediate osteopetrosis
CLCN7 PLEKHM1
Albers-Schönberg osteopetrosis



Intermediate osteopetrosis
Albers-Schönberg osteopetrosis

Synonym(s):
- Autosomal recessive intermediate osteopetrosis
Synonym(s):
- Osteopetrosis autosomal dominant type 2
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Albers-Schönberg osteopetrosis

Very frequent
- Arthritis / synovitis / synovial proliferation
- Autosomal dominant inheritance
- Bone pain
- Cranial nerves palsy
- Epiphyseal anomaly
- Facial palsy
- Frontal bossing / prominent forehead
- Joint dislocation / subluxation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metacarpal anomalies / Archibald's sign
- Metaphyseal anomaly
- Mutiple fractures / bone fragility
- Osteoarthritis
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Osteonecrosis / bone infarction
- Osteosclerosis / osteopetrosis / bone condensation
- Terminal / third phalangeal bone of fingers hypoplasia

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anaemia
- Genu valgum
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Short stature / dwarfism / nanism
- Visual loss / blindness / amblyopia

Occasional
- Hearing loss / hypoacusia / deafness
- Hydrocephaly
- Hypocalcemia
- Multiple caries
- Red cell disorders
- White cell disorders


Intermediate osteopetrosis

(no data available)