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Myxofibrosarcoma

3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Epidermolysis bullosa simplex with pyloric atresia

1 OMIM reference -
2 associated genes
14 signs/symptoms

Myxofibrosarcoma

Epidermolysis bullosa simplex with pyloric atresia

CREB3L1	(UniProt)		ITGB4	(UniProt - OMIM)
CREB3L2	(UniProt - OMIM)		PLEC	(UniProt - OMIM)
FUS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FUS	(0.59)	PLEC

Citations in the biomedical literature:

Myxofibrosarcoma		Epidermolysis bullosa simplex with pyloric atresia
	Synonym(s): - Fibromyxosarcoma - Myxoid malignant fibrous histiocytoma		Synonym(s): - EBS-PA

	Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

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

Epidermolysis bullosa simplex with pyloric atresia
	Very frequent - Autosomal recessive inheritance - Polyhydramnios - Prematurity - Stomach / gastric anomaly - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Anaemia - Anomalies of nose and olfaction - Dehydration / hydroelectrolytic loss - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Restricted joint mobility / joint stiffness / ankylosis - Sepsis severe / septicemia Occasional - Early death / lethality
Myxofibrosarcoma
(no data available)