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Hypoplasminogenemia

1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1

Junctional epidermolysis bullosa, Herlitz type

1 OMIM reference -
3 associated genes
11 signs/symptoms

Hypoplasminogenemia

Junctional epidermolysis bullosa, Herlitz type

PLG	(UniProt - OMIM)		LAMA3	(UniProt - OMIM)
			LAMB3	(UniProt - OMIM)
			LAMC2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLG	(0.52)	LAMA3

Citations in the biomedical literature:

Hypoplasminogenemia		Junctional epidermolysis bullosa, Herlitz type
	Synonym(s): - Plasminogen deficiency type 1		Synonym(s): - Epidermolysis bullosa letalis - JEB-H - Junctional epidermolysis bullosa generalisata gravis - Junctional epidermolysis bullosa, Herlitz-Pearson type

	Classification (Orphanet): - Rare genetic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare odontologic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

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

Hypoplasminogenemia		Junctional epidermolysis bullosa, Herlitz type
	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		Very frequent - Abnormal fingernails - Autosomal recessive inheritance Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Dehydration / hydroelectrolytic loss - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay Occasional - Alopecia - Onycholysis - Syndactyly of fingers / interdigital palm - Syndactyly of toes