ODCs

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1 OMIM reference -
4 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

2p21 microdeletion syndrome

Familial amyloidosis, Finnish type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PPM1B	(0.76)	GSN

Citations in the biomedical literature:

2p21 microdeletion syndrome		Familial amyloidosis, Finnish type
	Synonym(s): - 2p21 deletion - Del(2)(p21) - Monosomy 2p21		Synonym(s): - Familial amyloid polyneuropathy type 4 - Gelsolin amyloidosis - Hereditary amyloidosis, Finnish type

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

	External references: 1 OMIM reference - 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
Familial amyloidosis, Finnish type
(no data available)