ODCs

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Autosomal recessive malignant osteopetrosis

4 OMIM references -
4 associated genes
45 signs/symptoms

PROTEIN INTERACTIONS: 1

Rabson-Mendenhall syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Autosomal recessive malignant osteopetrosis

Rabson-Mendenhall syndrome

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TCIRG1	(0.63)	INSR

Citations in the biomedical literature:

Autosomal recessive malignant osteopetrosis		Rabson-Mendenhall syndrome
	Synonym(s): - Infantile malignant osteopetrosis		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056731

Autosomal recessive malignant osteopetrosis		Rabson-Mendenhall syndrome
	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		Very frequent - Acanthosis nigricans - Acromegaly - Anomalies of teeth and dentition - Anomalies of the abdominal wall - Autosomal dominant inheritance - Coarse face - Diabetes mellitus - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased body hair - Intrauterine growth retardation - Lanugo - Macropenis / megapenis / large penis - Premature eruption of teeth / natal teeth - Prognathism / prognathia Frequent - Coarse / thick hair - Dry / squaly skin / exfoliation - Peripheral neuropathy - Precocious puberty - Premature ageing - Proteinuria - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter / hydronephrosis / pyeloureteral junction syndrome