ODCs

Click node...

Autosomal recessive malignant osteopetrosis

4 OMIM references -
4 associated genes
45 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Monomelic amyotrophy

1 OMIM reference -
2 associated genes
13 signs/symptoms

Autosomal recessive malignant osteopetrosis

Monomelic amyotrophy

CLCN7	(UniProt - OMIM)	C5ORF42	(UniProt - OMIM)
SNX10	(UniProt - OMIM)	KIAA1377	(UniProt - OMIM)
TCIRG1	(UniProt - OMIM)
TNFSF11	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TNFSF11	(0.63)	KIAA1377

Citations in the biomedical literature:

Autosomal recessive malignant osteopetrosis		Monomelic amyotrophy
	Synonym(s): - Infantile malignant osteopetrosis		Synonym(s): - Benign focal amyotrophy - Hirayama disease - JMADUE - Juvenile muscular atrophy of distal upper extremity - Juvenile muscular atrophy of the distal upper limb

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): (no data available)

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: unknown

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538253


COMMON SIGNS	- Autosomal recessive inheritance - Movement disorder - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Tremor

Autosomal recessive malignant osteopetrosis		Monomelic amyotrophy
	Very frequent - Abnormal hair texture / hair dysplasia - Abnormal VEP / Visual evoked potential - Anaemia - Anomalies of the ribs - 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 - 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 - 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 EMG / electromyogram / electropmyography - Muscle weakness / flaccidity - Upper limb asymmetry / hemiatrophy / hemihypertrophy - Upper limb segmental anomalies Frequent - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of spine, vertebrae and pelvis - Nerve conduction abnormality Occasional - Anomalies of the immunitary system - Myoclonus / fasciculations