2026 ICD-10-CM Diagnosis Code E75.29Other sphingolipidosis

AHRQ’s CCSR groups this code into broader clinical categories.

• Waardenburg Syndrome

  rare, autosomal dominant disease with variable penetrance and several known clinical types. characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. the underlying cause may be defective development of the neural crest (neurocristopathy). waardenburg's syndrome may be closely related to piebaldism. klein-waardenburg syndrome refers to a disorder that also includes upper limb abnormalities.

• Other Sphingolipidosis|Other sphingolipidosis

  evidence of other sphingolipidosis not specified elsewhere.

• Sphingolipidosis

  an inherited metabolic disorder that affects the metabolism of the spinhgolipids. representative examples include gaucher disease, tay-sachs disease, and niemann-pick disease.

• Adrenoleukodystrophy|Schilder Disease

  a rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. it leads to progressive neurologic disorders, adrenal insufficiency and death.

• Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia|ALSP|HDLS|Hereditary Diffuse Leukoencephalopathy with Spheroids|POLD|Pigmentary Orthochromatic Leukodystrophy

  a rapidly progressive neurodegenerative disorder, caused by mutations in the colony-stimulating factor 1 receptor (csf1r) gene, that presents in adulthood with a variety of neuropsychiatric and motor disturbances. hallmark features include diffuse myelin loss and axonal destruction, neuroaxonal spheroids, and pigmented macrophages and other glia.

• ARSA wt Allele|Arylsulfatase A wt Allele|MLD|Metachromatic Leucodystrophy Gene|Metachromatic Leukodystrophy Gene

  human arsa wild-type allele is located in the vicinity of 22q13.33 and is approximately 3 kb in length. this allele, which encodes arylsulfatase a protein, plays a role in the catabolism of cerebroside sulfate. mutation of the gene is associated with leukodystrophy metachromatic.

• ATP-Binding Cassette Sub-Family D Member 1|ABCD1|ALDP|Adrenoleukodystrophy Protein|EC 7.6.2.4

  atp-binding cassette sub-family d member (745 aa, ~83 kda) is encoded by the human abcd1 gene. this protein plays a role in the peroxisomal import of fatty acids and fatty acyl-coenzyme a (acylcoa) esters.

• Canine Globoid Cell Leukodystrophy

  globoid cell leukodystrophy that occurs in a dog.

• Cerebral Adrenoleukodystrophy|CALD

  a subtype of adrenoleukodystrophy (ald) occurring in approximately 40 percent of boys with ald, primarily affecting the cerebrum, resulting in rapidly declining neurocognitive function and in most patients, premature death.

• Hypomyelinating Leukodystrophy-6|HABC|HLD6|Hypomyelination with Atrophy of Basal Ganglia and Cerebellum

  a genetic disorder of infancy or early childhood caused by mutation(s) in the tubb4a gene, encoding the tubulin beta-4a chain. it is characterized by hypomyelination or atrophy of the cerebellum and or putamen leading to delayed motor development, gait instability, and extrapyramidal movement disorders.

• Hypomyelinating Leukodystrophy-8|4H Syndrome|HLD8|Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome

  an autosomal recessive condition caused by mutation(s) in the polr3b gene, encoding dna-directed rna polymerase iii subunit rpc2. it is characterized by early onset cerebellar ataxia and mild intellectual disability. diffuse cerebral hypomyelination and cerebellar atrophy are apparent on mri. hypogonadotropic hypogonadism and hypodontia are also features of this condition.

• Krabbe Disease|Galactosylceramide Beta-Galactosidase Deficiency|Galactosylceramide Lipidosis|Globoid Cell Leukodystrophy|Krabbe disease

  a rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. it is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness.

• Leukodystrophy

  a group of rare genetic neurodegenerative disorders that affect infants and children. these disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. representative examples include metachromatic leukodystrophy, krabbe disease, canavan disease, and alexander disease.

• Metachromatic Leukodystrophy|Metachromatic leukodystrophy

  an autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. it is caused by a deficiency of the enzyme arylsulfatase a. there are three forms of this disease: late infantile, juvenile, and adult. in the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. in the juvenile form symptoms include gait disturbances, mental deterioration and seizures. the adult form is characterized by psychotic symptoms and dementia.

• Neonatal Adrenoleukodystrophy

  a rare metabolic disorder that affects neonates. it is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. it manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma.

• PSAP wt Allele|GLBA|PARK24|PSAPD|Prosaposin wt Allele|SAP1|SAP2|Variant Gaucher Disease and Variant Metachromatic Leukodystrophy Gene

  human psap wild-type allele is located within 10q21-q22 and is approximately 35 kb in length. this allele, which encodes prosaposin protein, plays a role in the positive regulation of lipid hydrolysis. mutation of the gene is associated with combined saposin deficiency, leukodystrophy metachromatic due to saposin-b deficiency, gaucher disease, atypical, due to saposin c deficiency, krabbe disease, atypical, due to saposin a deficiency and tay-sachs disease.

• Hypomyelinating Leukodystrophy-22|HLD22

  an autosomal dominant condition caused by mutation(s) in the cldn11 gene, encoding claudin-11. it is characterized by global developmental delay, mild impaired intellectual development, limited ability to walk, and hypomyelinating leukodystrophy on mri.

• Hypomyelinating Leukodystrophy-18|HLD18

  an autosomal recessive condition caused by mutation(s) in the degs1 gene, encoding sphingolipid delta(4)-desaturase des1. it is characterized by the onset of global developmental delay usually in early infancy. affected individuals may also have poor psychomotor development, poor or absent speech, dystonia, and spasticity.

• Hypomyelinating Leukodystrophy-7|HLD7

  an autosomal recessive condition caused by mutation(s) in the polr3a gene, encoding dna-directed rna polymerase iii subunit rpc1. it is characterized by neurological, dental, ophthalmological, and endocrine alterations, including cognitive impairment, ataxia, hypogonadotropic hypogonadism, and eye abnormalities.

Genetic Brain Disorders

A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.

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