ODCs

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Autosomal recessive malignant osteopetrosis

4 OMIM references -
4 associated genes
45 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Leprechaunism

1 OMIM reference -
1 associated gene
37 signs/symptoms

Autosomal recessive malignant osteopetrosis

Leprechaunism

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		Leprechaunism
	Synonym(s): - Infantile malignant osteopetrosis		Synonym(s): - Donohue syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Repeat respiratory infections

Autosomal recessive malignant osteopetrosis		Leprechaunism
	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 - Fever / chilling - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Hydrocephaly - 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 - Splenomegaly - Tremor - 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 - Anomalies of ear and hearing - Diabetes mellitus - Excess nuchal skin without pterygium colli - Facial dysmorphism - Flared / thick ala nasi - High vaulted / narrow palate - Hyperinsulinism / hyperinsulinemia - Hypertelorism - Hypoglycemia - Insulin-independent / type 2 diabetes - Intrauterine growth retardation - Long / large ear - Low set ears / posteriorly rotated ears - Macropenis / megapenis / large penis - Proptosis / exophthalmos - Short stature / dwarfism / nanism - Thick lips - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy Frequent - Delayed bone age - Depressed nasal bridge - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Female pseudohermaphrodism / virilisation / clitoridomegaly - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hepatitis / icterus / cholestasis - Hirsutism / hypertrichosis / Increased body hair - Immunodeficiency / increased susceptibility to infections / recurrent infections - Inguinal / inguinoscrotal / crural hernia - Lipoatrophy - Umbilical hernia Occasional - Absent / hypotonic / flaccid abdominal wall muscles - Microcephaly - Undescended / ectopic testes / cryptorchidia / unfixed testes