Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy (HLD23)

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OMIM® 57 619688 OMIM Phenotypic Series 57 PS312080 MeSH 43 D020279

MedGen 40 C5562074 CN305777 SNOMED-CT via HPO 69 111007000 128208007 128613002 166603001 166643006 192967009 195021004 228156007 246545002 247578003 313307000 399020009 60700002 60703000 75183008 8011004 84757009 85102008 86854008 91138005 91175000 more

OMIM®: ⁵⁷ Hypomyelinating leukodystrophy-23 with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy (HLD23) is an autosomal recessive neurodegenerative disorder with systemic manifestations. Affected individuals show delayed motor development and ataxic gait in early childhood that progresses to spastic paraplegia with loss of ambulation in the first decades of life. Additional features include progressive sensorineural hearing loss resulting in deafness, hepatic dysfunction with elevated liver enzymes, and dilated cardiomyopathy that ultimately results in death in the first or second decades. Brain imaging shows hypomyelination, diffuse white matter abnormalities consistent with leukodystrophy, and thin corpus callosum (summary by Sferra et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (619688) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy, is also known as hld23. An important gene associated with Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy is RNF220 (Ring Finger Protein 220). Affiliated tissues include liver and brain, and related phenotypes are intellectual disability and seizure

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive neurodegenerative disorder with systemic manifestations. Affected individuals show delayed motor development and ataxic gait in early childhood that progresses to spastic paraplegia with loss of ambulation in the first decades of life. Additional features include progressive sensorineural hearing loss, hepatic dysfunction, and dilated cardiomyopathy. Death occurs in the first or second decades. Brain imaging shows hypomyelination, diffuse white matter abnormalities, and thin corpus callosum.

Clinical features from OMIM®:

619688 (Updated 08-Dec-2022)

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy

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