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Bethlem myopathy

1 OMIM reference -
3 associated genes
7 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Achondrogenesis type 2

1 OMIM reference -
1 associated gene
25 signs/symptoms

Bethlem myopathy

Achondrogenesis type 2

COL6A1	(UniProt - OMIM)		COL2A1	(UniProt - OMIM)
COL6A2	(UniProt - OMIM)
COL6A3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL6A1	(0.52)	COL2A1

Citations in the biomedical literature:

Bethlem myopathy		Achondrogenesis type 2
	Synonym(s): - Benign autosomal dominant myopathy		Synonym(s): - Achondrogenesis, Langer-Saldino type

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy 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 dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535436		External references: 1 OMIM reference - 1 MeSH reference: C536017


COMMON SIGNS	- Autosomal dominant inheritance

Bethlem myopathy		Achondrogenesis type 2
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Camptodactyly of fingers - Myopathy - Restricted joint mobility / joint stiffness / ankylosis - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy		Very frequent - Abnormal / absent ossification - Anteverted nares / nostrils - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excess nuchal skin without pterygium colli - Flat face - Frontal bossing / prominent forehead - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Long philtrum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - Short stature / dwarfism / nanism - Short / small nose - Stillbirth / neonatal death Frequent - Inguinal / inguinoscrotal / crural hernia - Polyhydramnios - Umbilical hernia Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Cystic hygroma - Postaxial polydactyly (hand)