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Autosomal recessive malignant osteopetrosis
4 OMIM references -
4 associated genes
32 connected diseases
45 signs/symptoms
Disease Type of connection
Albers-Schönberg osteopetrosis
Intermediate osteopetrosis
Juvenile Paget disease
Bardet-Biedl syndrome
Charcot-Marie-Tooth disease type 4B3
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Monomelic amyotrophy
Rabson-Mendenhall syndrome
Weaver syndrome
Infantile osteopetrosis with neuroaxonal dysplasia
Autosomal recessive distal renal tubular acidosis with deafness
Autosomal dominant hypohidrotic ectodermal dysplasia
Cowden syndrome
Distal 22q11.2 microdeletion syndrome
Giant cell glioblastoma
Gliosarcoma
Hypohidrotic ectodermal dysplasia with immunodeficiency
Proteus syndrome
Familial expansile osteolysis
Glycogen storage disease due to LAMP-2 deficiency
Intellectual deficit - craniofacial dysmorphism - cryptorchidism
Neonatal inflammatory skin and bowel disease
Osteopetrosis - hypogammaglobulinemia
Severe generalized recessive dystrophic epidermolysis bullosa
Desmoplastic small round cell tumor
Dubin-Johnson syndrome
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Synonym(s):
- Infantile malignant osteopetrosis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
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
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
CLCN7 P51798602727
SNX10 Q9Y5X0614780
TCIRG1 Q13488604592
TNFSF11 O14788602642
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
- Craniostenosis / craniosynostosis / sutural synostosis
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Ecchymoses
- Epiphyseal anomaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fever / chilling
- Hearing loss / hypoacusia / deafness
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hydrocephaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lymphadenopathy / polyadenopathies
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- 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
- Splenomegaly
- Tremor
- Visual loss / blindness / amblyopia

Frequent
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy

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