Rare parenchymal liver disease

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Rare parenchymal liver disease

ORPHA:101939Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ABCB11ABCB4ATP8B1CC2D2ACREB3L3DZIP1LGPD1HADHAIARS1INPP5ELARS1MARS1NBASNEK8NPHP3NR1H4PIGAPKHD1RINT1RPGRIP1LSCYL1SH2B3SKIC2SKIC3TMEM67TRMUTULP3

Orphanet records these genes on 17 more specific entries under this disorder, not on this entry itself:

Acute fatty liver of pregnancyAcute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteinsAcute infantile liver failure-multisystemic involvement syndromeAutosomal recessive polycystic kidney diseaseFerro-cerebro-cutaneous syndromeFever-associated acute infantile liver failure syndromeGrowth delay-intellectual disability-hepatopathy syndromeGrowth retardation-mild developmental delay-chronic hepatitis syndromeHepatorenocardiac degenerative fibrosisIntrahepatic cholestasis of pregnancyJoubert syndrome with hepatic defectNPHP3-related Meckel-like syndromeRenal-hepatic-pancreatic dysplasiaSevere early-onset pulmonary alveolar proteinosis due to MARS deficiencyTransient infantile hypertriglyceridemia and hepatosteatosisTrichohepatoenteric syndrome

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

GARD 19789MONDO 15114UMLS C5681787

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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