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Congenital diaphragmatic hernia

4 OMIM references -
3 associated genes
1 sign/symptom

PROTEIN INTERACTIONS: 1

Congenital erythropoietic porphyria

1 OMIM reference -
2 associated genes
14 signs/symptoms

Congenital diaphragmatic hernia

Congenital erythropoietic porphyria

FREM1	(UniProt - OMIM)		GATA1	(UniProt - OMIM)
GATA6	(UniProt - OMIM)		UROS	(UniProt - OMIM)
ZFPM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ZFPM2	(0.87)	GATA1

Citations in the biomedical literature:

Congenital diaphragmatic hernia		Congenital erythropoietic porphyria
	Synonym(s): - CDH - Diaphragmatic agenesia		Synonym(s): - CEP - GÃ¼nther disease

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare respiratory disease - Rare surgical thoracic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease - Rare renal disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: multigenic/multifactorial		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: adult Type of inheritance: autosomal recessive

	External references: 4 OMIM references - 1 MeSH reference: C538080		External references: 1 OMIM reference - No MeSH references

Congenital diaphragmatic hernia		Congenital erythropoietic porphyria
	Very frequent - Diaphragmatic hernia / defect / agenesis		Very frequent - Abnormal colour of the urine / cholic / dark urines - Auto-aggressivity / auto-mutilation - Autosomal recessive inheritance - Dental staining anomaly / spotted teeth / erythrodontia - Hemolytic anemia - Hirsutism / hypertrichosis / Increased body hair - Porphyrins metabolism anomalies / porphyria - Skin photosensitivity - Splenomegaly - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Immunodeficiency / increased susceptibility to infections / recurrent infections - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Thrombocytopenia / thrombopenia