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37 Possible Causes for Onset of Liver Involvement in Infancy

  • Inherited Congenital Spastic Tetraplegia

    involvement with onset in adulthood and normal cognition.[mendelian.co] Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle[mendelian.co]

  • Gaucher Disease

    • Untreatable and lethal during infancy Type 3 (JuvenileType) • Onset in teen years • T hrombocytopenia, anemia, enlarged liver • Fractures • Gradual brain involvement[orthobullets.com] […] bruising • Anemia, fractures • Treatable with enzyme replacement therapy (fatal if enzyme substitute is not given) Type 2 (InfantileType) • Lethal by age 3 • Brain and organ involvement[orthobullets.com]

  • Farber Disease

    Joints, liver, throat, tissues and central nervous system are affected. The usual onset of the disease is before the age of one year.[medindia.net] Children with serious nervous system involvement may die early in infancy. Others may survive up to the third or fourth decade of life with abnormalities.[medindia.net]

  • Niemann-Pick Disease Type C

    […] failure starting in infancy early lung involvement without neurologic disease seizures Late occurring cases typically have a less dramatic onset of symptoms.[parseghian.org] […] failure without neurologic symptoms jaundice at birth early development of neurological problems low muscle tone delayed motor development beginning before age 2 progressive liver[parseghian.org]

  • Degenerative Disorder

    Hepatocerebral MDS, caused by mutations in DGUOK, MPV17, POLG, or C10orf2, commonly have an early-onset liver dysfunction and neurological involvement.[doi.org] Encephalomyopathic MDS, caused by mutations in SUCLA2, SUCLG1, or RRM2B, typically present during infancy with hypotonia and pronounced neurological features.[doi.org]

  • Niemann-Pick Disease Type B

    Onset in infancy or childhood Variable phenotype More common in Ashkenazi Jews Allelic disorder to Niemann-Pick disease type A (MIM.257200) short stature (less common) cherry-red[humpath.com] They are known to be complicated with varying degrees of prognosis-determining liver dysfunction.[humpath.com] It is mainly a visceral form without neurologic manifestations despite the massive visceral involvement.[humpath.com]

  • Gaucher Disease Type 2

    • Untreatable and lethal during infancy Type 3 (JuvenileType) • Onset in teen years • T hrombocytopenia, anemia, enlarged liver • Fractures • Gradual brain involvement[orthobullets.com] […] bruising • Anemia, fractures • Treatable with enzyme replacement therapy (fatal if enzyme substitute is not given) Type 2 (InfantileType) • Lethal by age 3 • Brain and organ involvement[orthobullets.com]

  • Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

    : Infancy or childhood Clinical features: In type IIIa, liver and muscle involvement with features of type Ia and II In type IIIb, only liver involvement plus features of[msdmanuals.com] Late onset progressive myopathy. - Adult polyglucosan body disease: Associated with mild mutations. Upper and lower motor neurone involvement and neurogenic bladder.[quizlet.com] (Danon) Lysosomal membrane protein-2 LAMP2 (Xq24)* GSD III (Forbes disease, Cori disease, limit dextrinosis; 232400) Frequency: IIIa, 85%; IIIb, 15%; IIIc and IIId, rare Onset[msdmanuals.com]

  • Glycogen Storage Disease

    : Infancy or childhood Clinical features: In type IIIa, liver and muscle involvement with features of type Ia and II In type IIIb, only liver involvement plus features of[msdmanuals.com] (Danon) Lysosomal membrane protein-2 LAMP2 (Xq24)* GSD III (Forbes disease, Cori disease, limit dextrinosis; 232400) Frequency: IIIa, 85%; IIIb, 15%; IIIc and IIId, rare Onset[msdmanuals.com]

  • Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

    : Infancy or childhood Clinical features: In type IIIa, liver and muscle involvement with features of type Ia and II In type IIIb, only liver involvement plus features of[msdmanuals.com] (Danon) Lysosomal membrane protein-2 LAMP2 (Xq24)* GSD III (Forbes disease, Cori disease, limit dextrinosis; 232400) Frequency: IIIa, 85%; IIIb, 15%; IIIc and IIId, rare Onset[msdmanuals.com]

Further symptoms