ODCs

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Autosomal recessive malignant osteopetrosis

4 OMIM references -
4 associated genes
45 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 13

Albers-SchÃ¶nberg osteopetrosis

1 OMIM reference -
1 associated gene
29 signs/symptoms

Autosomal recessive malignant osteopetrosis

Albers-SchÃ¶nberg osteopetrosis

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


COMMON GENES	CLCN7

Citations in the biomedical literature:

Autosomal recessive malignant osteopetrosis		Albers-SchÃ¶nberg osteopetrosis
	Synonym(s): - Infantile malignant osteopetrosis		Synonym(s): - Osteopetrosis autosomal dominant type 2

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Anaemia - Bone pain - Cranial nerves palsy - Epiphyseal anomaly - Hearing loss / hypoacusia / deafness - Hydrocephaly - Hypocalcemia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Mutiple fractures / bone fragility - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Osteosclerosis / osteopetrosis / bone condensation - Visual loss / blindness / amblyopia

Autosomal recessive malignant osteopetrosis		Albers-SchÃ¶nberg osteopetrosis
	Very frequent - Abnormal hair texture / hair dysplasia - Abnormal VEP / Visual evoked potential - Anomalies of the ribs - Autosomal recessive inheritance - Bowed diaphysis / diaphyses / long bones - Craniostenosis / craniosynostosis / sutural synostosis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Ecchymoses - Failure to thrive / difficulties for feeding in infancy / growth delay - Fever / chilling - Hepatomegaly / liver enlargement (excluding storage disease) - Intellectual deficit / mental / psychomotor retardation / learning disability - Lymphadenopathy / polyadenopathies - Metabolic anomalies - Movement disorder - Narrow rib cage / thorax - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Nystagmus - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Pallor - Premature lost of decidious teeth - Purpura / petichiae - Repeat respiratory infections - Splenomegaly - Tremor Frequent - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy Occasional - Apnea / sleep apnea - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hypophosphatemia - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Pulmonary hypertension - Pulmonary valve anomaly / incompetence / insufficiency / regurgitation		Very frequent - Arthritis / synovitis / synovial proliferation - Autosomal dominant inheritance - Facial palsy - Frontal bossing / prominent forehead - Joint dislocation / subluxation - Metacarpal anomalies / Archibald's sign - Osteoarthritis - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Osteonecrosis / bone infarction - Terminal / third phalangeal bone of fingers hypoplasia Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Genu valgum - Short stature / dwarfism / nanism Occasional - Multiple caries - Red cell disorders - White cell disorders