ODCs

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Prolidase deficiency

1 OMIM reference -
1 associated gene
40 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Pyruvate dehydrogenase E3 deficiency

1 OMIM reference -
1 associated gene
11 signs/symptoms

Prolidase deficiency

Pyruvate dehydrogenase E3 deficiency

PEPD

(UniProt - OMIM)

DLD

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PEPD	(0.63)	DLD

Citations in the biomedical literature:

Prolidase deficiency		Pyruvate dehydrogenase E3 deficiency
	Synonym(s): - Hyperimidodipeptiduria		Synonym(s): - DLD deficiency - Dihydrolipoamide dehydrogenase deficiency - E3-deficient maple syrup urine disease

	Classification (Orphanet): - Inborn errors of metabolism - Rare circulatory system disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: child / adolescent Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D056732		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Hepatomegaly / liver enlargement (excluding storage disease) - Intellectual deficit / mental / psychomotor retardation / learning disability

Prolidase deficiency		Pyruvate dehydrogenase E3 deficiency
	Very frequent - Anomalies of ear and hearing - Chronic skin infection / ulcerations / ulcers / cancrum - Depressed nasal bridge - Dry / squaly skin / exfoliation - Facial dysmorphism - Flat cheek bones / malar hypoplasia - Follicular / erythematous / edematous papules / milium - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Immunodeficiency / increased susceptibility to infections / recurrent infections - Multiple caries - Palmoplantar hyperkeratosis / keratoderma - Pruritus / itching - Repeat respiratory infections - Skin hypoplasia / aplasia / atrophy - Skin photosensitivity - Structural anomalies of middle ear / ossicles / tympanic cavity - Thin skin Frequent - Flattened nose - Genu valgum - Hirsutism / hypertrichosis / Increased body hair - Hypertelorism - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Long hand / arachnodactyly - Low hair line-front - Micrognathia / retrognathia / micrognathism / retrognathism - Retinitis pigmentosa / retinal pigmentary changes - Simian crease / transverse / unique palmar crease - Thin / hypoplastic / hyperconvex fingernails - Visual loss / blindness / amblyopia - White forelock / piebaldism Occasional - Bladder inflammation / cystitis / painful / irritable bladder - Depressed premaxillary region / midface - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Proptosis / exophthalmos - Splenomegaly		Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Organic acid metabolism anomalies Frequent - Abnormal gait - Hypotonia - Microcephaly - Movement disorder Occasional - Hepatocellular liver disease / hepatic failure - Hypoglycemia