Disorder of phospholipids

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Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement

ORPHA:352306Category

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

ALDH3A2CERS1ELOVL4ELOVL5FA2HFAR1NADK2PNPLA6SELENOISERAC1ST3GAL5

Orphanet records these genes on 11 more specific entries under this disorder, not on this entry itself:

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionAutosomal recessive spastic paraplegia type 39Congenital ichthyosis-intellectual disability-spastic quadriplegia syndromeFatty acid hydroxylase-associated neurodegenerationGM3 synthase deficiencyMEGDEL syndromeProgressive encephalopathy with leukodystrophy due to DECR deficiencyProgressive myoclonic epilepsy type 8Sjögren-Larsson syndromeSpastic paraparesis-cataracts-speech delay syndromeSpinocerebellar ataxia type 38

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

MONDO 18118UMLS C5680993

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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