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Condition report · Neurological

Pelizaeus-Merzbacher Disease

Inherited conditions in which the brain does not build normal myelin from early life. They include PLP1-related Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease (GJC2), POLR3-related (4H) leukodystrophy, TUBB4A-related H-ABC and other numbered hypomyelinating leukodystrophies.

A condition report looks for rare variants known to cause the conditions it covers.

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The 20 conditions we analyse

Pelizaeus-Merzbacher disease (PLP1)

X-linked recessive

Changes in PLP1, most often a duplication of the whole gene, cause nystagmus, low muscle tone and delayed motor development in boys, later followed by spasticity and ataxia; carrier females are usually unaffected or mildly affected.

What a diagnosis changes

Diagnosis guides supportive care and allows carrier testing of female relatives.

Genes analysed

Also known as

diffuse familial brain sclerosis; HLD1; Pelizaeus Merzbacher disease; Pelizaeus-Merzbacher brain sclerosis; Pelizaeus-Merzbacher disease, X-linked recessive; PMD; Sudanophilic leukodystrophy, Paelizeus-Merzbacher type

Includes 5 related subtypes ↓
  • null syndrome
  • Pelizaeus-Merzbacher disease in female carriers
  • Pelizaeus-Merzbacher disease, classic form
  • Pelizaeus-Merzbacher disease, connatal form
  • Pelizaeus-Merzbacher disease, transitional form
MONDO:0010714OMIM 312080Orphanet 702MedGen 61440

Pelizaeus-Merzbacher-like disease (GJC2 and others)

Autosomal recessive

A condition that closely resembles Pelizaeus-Merzbacher disease, most often caused by changes in GJC2, with early nystagmus, delayed development and later spasticity.

Genes analysed

Also known as

PMLD

Includes 3 related subtypes ↓
  • leukodystrophy, hypomyelinating, 2
  • leukodystrophy, hypomyelinating, 3
  • leukodystrophy, hypomyelinating, 4
MONDO:0017226Orphanet 280270MedGen 894734

POLR3-related (4H) leukodystrophy

Autosomal recessive

Changes in POLR3A, POLR3B, POLR1C or POLR3K cause hypomyelination with problems of balance and coordination, often with dental anomalies and delayed puberty (hypomyelination, hypodontia and hypogonadotropic hypogonadism).

What a diagnosis changes

Diagnosis allows monitoring of dental development and puberty, and hormone treatment where needed.

Genes analysed

Includes 8 related subtypes ↓
  • hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
  • hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
  • leukodystrophy, hypomyelinating, 11
  • leukodystrophy, hypomyelinating, 21
  • leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
  • leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
  • odontoleukodystrophy
  • tremor-ataxia-central hypomyelination syndrome
MONDO:0700282MedGen 871615

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC, TUBB4A)

Autosomal dominant

Usually new changes in TUBB4A cause hypomyelination with movement problems such as dystonia, stiffness and ataxia, beginning in infancy or early childhood.

Genes analysed

Also known as

H-ABC; HABC; HLD6; hypomyelinating leukodystrophy 6; hypomyelinating leukodystrophy type 6; hypomyelination with atrophy of basal ganglia and cerebellum

MONDO:0012905OMIM 612438Orphanet 139441MedGen 436642

Hypomyelinating leukodystrophy 5 (HYCC1)

Autosomal recessive

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

FAM126A leukodystrophy; HLD5; hypomyelinating leukodystrophy 5; hypomyelinating leukodystrophy type 5; hypomyelination - congenital cataract; hypomyelination and congenital cataract; hypomyelination-congenital cataract syndrome; leukodystrophy caused by mutation in FAM126A

MONDO:0012514OMIM 610532Orphanet 85163MedGen 501134

Hypomyelinating leukodystrophy 9 (RARS1)

Autosomal recessive

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

HLD9; hypomyelinating leukodystrophy 9; hypomyelinating leukodystrophy type 9; leukodystrophy caused by mutation in RARS; RARS leukodystrophy; RARS-related autosomal recessive hypomyelinating leukodystrophy

MONDO:0014506OMIM 616140Orphanet 438114MedGen 863760

Hypomyelinating leukodystrophy 10 (PYCR2)

Autosomal recessive

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

HLD10; hypomyelinating leukodystrophy 10; hypomyelinating leukodystrophy type 10; leukodystrophy caused by mutation in PYCR2; PYCR2 leukodystrophy; PYCR2-related microcephaly-progressive leukoencephalopathy

MONDO:0014632OMIM 616420Orphanet 481152MedGen 904191

Hypomyelinating leukodystrophy 12 (VPS11)

Autosomal recessive

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

HLD12; hypomyelinating leukodystrophy 12; hypomyelinating leukodystrophy type 12; leukodystrophy caused by mutation in VPS11; VPS11 leukodystrophy; VPS11-related autosomal recessive hypomyelinating leukoencephalopathy

MONDO:0014732OMIM 616683Orphanet 466934MedGen 905068

Hypomyelinating leukodystrophy 13 (HIKESHI)

Autosomal recessive

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

HIKESHI leukodystrophy; HLD13; hypomyelinating leukodystrophy 13; hypomyelinating leukodystrophy type 13; leukodystrophy caused by mutation in HIKESHI

MONDO:0014813OMIM 616881MedGen 896545

Hypomyelinating leukodystrophy 14 (UFM1)

Autosomal recessive

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

HLD14

MONDO:0033486OMIM 617899MedGen 1635255

Hypomyelinating leukodystrophy 15 (EPRS1)

Autosomal recessive

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

HLD15

MONDO:0054782OMIM 617951MedGen 1633653

Hypomyelinating leukodystrophy 16 (TMEM106B)

Autosomal dominant

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

HLD16

MONDO:0054791OMIM 617964MedGen 1631337

Hypomyelinating leukodystrophy 17 (AIMP2)

Autosomal recessive

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

HLD17

MONDO:0054817OMIM 618006MedGen 1644557

Hypomyelinating leukodystrophy 18 (DEGS1)

Autosomal recessive

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

DEGS1-HLD; DEGS1-related hypomyelinating leukodystrophy; HLD18; hypomyelinating leukodystrophy 18

MONDO:0032730OMIM 618404MedGen 1680067

Hypomyelinating leukodystrophy 19, transient infantile (TMEM63A)

Autosomal dominant

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

HLD19

MONDO:0032871OMIM 618688MedGen 1684698

Hypomyelinating leukodystrophy 22 (CLDN11)

Autosomal dominant

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

HLD22

MONDO:0025701OMIM 619328MedGen 1787833

Hypomyelinating leukodystrophy 23 (RNF220)

Autosomal recessive

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

HLD23

MONDO:0030514OMIM 619688MedGen 1794284

Hypomyelinating leukodystrophy 24 (ATP11A)

Autosomal dominant

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

MONDO:0859242OMIM 619851MedGen 1805365

Hypomyelinating leukodystrophy 25 (TMEM163)

Autosomal dominant

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

MONDO:0859378OMIM 620243MedGen 1840911

Hypomyelination with brainstem and spinal cord involvement and leg spasticity (DARS1)

Autosomal recessive

A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

Genes analysed

Also known as

HBSL; hypomyelination with brainstem and spinal cord involvement and leg spasticity

MONDO:0014115OMIM 615281Orphanet 363412MedGen 1667792

Limitations

  • Most Pelizaeus-Merzbacher disease is caused by a duplication of the whole PLP1 gene rather than a small change. Copy number changes such as duplications are detected less reliably than small variants and may need confirmation by a targeted method.

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