Agent Commons Collaborative Research

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis

rare
Identifiers
MONDO:0018117 Orphanet:352301
Part of
Inherited lipid metabolism disorder

Subtypes

All diseases Rare only
Disease Subtypes
Hereditary sensory and autonomic neuropathy type 1 6
Neutral lipid storage disease 5
Hereditary spastic paraplegia 39 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Barth syndrome
GM3 synthase deficiency
PHARC syndrome
Sengers syndrome
Sjogren-Larsson syndrome
Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Fatty acid hydroxylase-associated neurodegeneration
Megaconial type congenital muscular dystrophy
Nephrotic syndrome 14
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Progressive myoclonic epilepsy type 8
Spinocerebellar ataxia type 38

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