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Adult-onset distal myopathy due to VCP mutation

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2p21 microdeletion syndrome

1 OMIM reference -
4 associated genes
18 signs/symptoms

Adult-onset distal myopathy due to VCP mutation

2p21 microdeletion syndrome

VCP	(UniProt - OMIM)		CAMKMT	(UniProt - OMIM)
			PPM1B	(UniProt - OMIM)
			PREPL	(UniProt - OMIM)
			SLC3A1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VCP	(0.86)	PPM1B

Citations in the biomedical literature:

Adult-onset distal myopathy due to VCP mutation		2p21 microdeletion syndrome
	Synonym(s): (no synonyms)		Synonym(s): - 2p21 deletion - Del(2)(p21) - Monosomy 2p21

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal 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: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

2p21 microdeletion syndrome
	Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Depressed nasal bridge - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Respiratory chain / mitochondrial anomalies - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Urinary / renal lithiasis / kidney stones / nephritic colic Frequent - Hypocalcemia - Organic acid metabolism anomalies - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Fetal immobility / abnormal fetal movements - Hypoglycemia
Adult-onset distal myopathy due to VCP mutation
(no data available)