ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
11 signs/symptoms

Pelizaeus-Merzbacher-like due to HSPD1 mutation

Hypoplasminogenemia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPD1	(0.68)	PLG

Citations in the biomedical literature:

Pelizaeus-Merzbacher-like due to HSPD1 mutation		Hypoplasminogenemia
	Synonym(s): - Mitochondrial HSP60 chaperonopathy		Synonym(s): - Plasminogen deficiency type 1

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive

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

Hypoplasminogenemia
	Very frequent - Anomalies of eyes and vision Frequent - Anomalies of tongue, gingiva and oral mucosa Occasional - Abnormal / polycystic ovaries - Anomalies of skin, subcutaneous tissue and mucosae - Dandy-Walker anomaly - Hydrocephaly - Intestinal / colonic anomaly - Structural anomalies of middle ear / ossicles / tympanic cavity - Structural anomalies of the respiratory system and diaphragm - Urinary / renal lithiasis / kidney stones / nephritic colic - Uterine / uterus / Fallopian tubes anomalies
Pelizaeus-Merzbacher-like due to HSPD1 mutation
(no data available)