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Epidermolysis bullosa simplex with pyloric atresia

1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Desmoplastic small round cell tumor

2 associated genes
19 signs/symptoms

Epidermolysis bullosa simplex with pyloric atresia

Desmoplastic small round cell tumor

ITGB4	(UniProt - OMIM)		EWSR1	(UniProt - OMIM)
PLEC	(UniProt - OMIM)		WT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLEC	(0.56)	EWSR1

Citations in the biomedical literature:

Epidermolysis bullosa simplex with pyloric atresia		Desmoplastic small round cell tumor
	Synonym(s): - EBS-PA		Synonym(s): - DSRCT

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare oncologic disease

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

	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: unknown Average age onset: adolescence / young Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references 1 MeSH reference: D058405


COMMON SIGNS	- Anaemia

Epidermolysis bullosa simplex with pyloric atresia		Desmoplastic small round cell tumor
	Very frequent - Autosomal recessive inheritance - Polyhydramnios - Prematurity - Stomach / gastric anomaly - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - 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		Very frequent - Acute abdominal pain / colic - Digestive neoplasm / tumor / carcinoma / cancer - Lymphadenopathy / polyadenopathies - Peritoneal diseases - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma Frequent - Hepatomegaly / liver enlargement (excluding storage disease) - Intestinal obstruction / ileus - Mediastinal / hilar adenopathies - Nausea / vomiting / regurgitation / merycism / hyperemesis - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Ascitis - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Nose / nasal sinus neoplasm / tumor / carcinoma / cancer - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Testis anomalies - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy