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Renal tubulopathy - encephalopathy - liver failure

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

GRACILE syndrome

1 OMIM reference -
1 associated gene
11 signs/symptoms

Renal tubulopathy - encephalopathy - liver failure

GRACILE syndrome

BCS1L

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	BCS1L

Citations in the biomedical literature:

Renal tubulopathy - encephalopathy - liver failure		GRACILE syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Fellman disease - Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death - Growth restriction - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 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 - 1 MeSH reference: C537934

GRACILE syndrome
	Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Cirrhosis - Failure to thrive / difficulties for feeding in infancy / growth delay - Hearing loss / hypoacusia / deafness - Hepatitis / icterus / cholestasis - Hyperferritinemia / iron overload - Liver / hepatic steatosis - Renal tubular defect / tubulopathy Frequent - Brittle hair / distrix / trichorrhexis - Early death / lethality
Renal tubulopathy - encephalopathy - liver failure
(no data available)