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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
31 signs/symptoms

Metachondromatosis

Laron syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.85)	GHR

Citations in the biomedical literature:

Metachondromatosis		Laron syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Complete growth hormone insensitivity - GH receptor deficiency - Growth hormone receptor deficiency - Laron-type dwarfism - Primary GH insensitivity - Primary GH resistance - Primary growth hormone insensitivity - Primary growth hormone resistance - Short stature due to growth hormone resistance

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D046150

Metachondromatosis		Laron syndrome
	Very frequent - Autosomal dominant inheritance - Bone pain - Cranial nerves palsy - Enchondroses - Epiphyseal anomaly - Exostoses - Metaphyseal anomaly - Osteonecrosis / bone infarction - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Periarticular tissue anomaly / extraarticular calcifications		Very frequent - Anodontia / oligodontia / hypodontia - Anomalies of the endocrine glands - Autosomal recessive inheritance - Complete / partial microdontia - Delayed bone age - Delayed dentition / eruption of teeth / lack of eruption of teeth - Facial dysmorphism - High forehead - Micrognathia / retrognathia / micrognathism / retrognathism - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Short stature / dwarfism / nanism - Truncal obesity Frequent - Elbow anomalies(excluding luxation) - Flat supraorbital ridge - Hypoglycemia - Late puberty / hypogonadism / hypogenitalism - Micropenis / small penis / agenesis - Motor deficit / trouble - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Short foot / brachydactyly of toes - Short hand / brachydactyly Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Blue sclerae - Flattened nose - Hairy patch - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Intellectual deficit / mental / psychomotor retardation / learning disability - Osteoarthritis - Premature ageing - Skull / cranial anomalies