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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Rabson-Mendenhall syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Metachondromatosis

Rabson-Mendenhall syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.89)	INSR

Citations in the biomedical literature:

Metachondromatosis		Rabson-Mendenhall syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal dominant inheritance

Metachondromatosis		Rabson-Mendenhall syndrome
	Very frequent - 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 - Acanthosis nigricans - Acromegaly - Anomalies of teeth and dentition - Anomalies of the abdominal wall - 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