HLD23
MCID: LKD036
MIFTS: 20

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

Categories: Genetic diseases
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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy:

Name: Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy 57 73 28 5
Hld23 57 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder
onset of ataxia in the first years of life
onset of progressive sensorineural deafness in the first decade
onset of dilated cardiomyopathy in late childhood or adolescence
death from cardiomyopathy by the end of the second decade of life


Classifications:



Summaries for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

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.

Related Diseases for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

Human phenotypes related to Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 seizure 30 Very rare (1%) HP:0001250
3 hyperreflexia 30 Very rare (1%) HP:0001347
4 ataxia 30 Very rare (1%) HP:0001251
5 dysarthria 30 Very rare (1%) HP:0001260
6 sensorineural hearing impairment 30 Very rare (1%) HP:0000407
7 elevated hepatic transaminase 30 Very rare (1%) HP:0002910
8 dilated cardiomyopathy 30 Very rare (1%) HP:0001644
9 motor delay 30 Very rare (1%) HP:0001270
10 spastic paraplegia 30 Very rare (1%) HP:0001258
11 peripheral axonal neuropathy 30 Very rare (1%) HP:0003477
12 cns hypomyelination 30 Very rare (1%) HP:0003429
13 thin corpus callosum 30 Very rare (1%) HP:0033725

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
tremor
dysmetria
spastic paraplegia
more
Head And Neck Ears:
sensorineural deafness

Abdomen Liver:
elevated liver enzymes
enlarged liver
periportal fibrosis seen on liver biopsy

Head And Neck Eyes:
abnormal electroretinogram (in some patients)
preserved visual function

Cardiovascular Heart:
dilated cardiomyopathy
interstitial cardiac fibrosis
cardiac failure

Neurologic Peripheral Nervous System:
peripheral axonal neuropathy (in some patients)

Laboratory Abnormalities:
elevated liver enzymes

Clinical features from OMIM®:

619688 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

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

Genetic Tests for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

Genetic tests related to Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy:

# Genetic test Affiliating Genes
1 Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy 28 RNF220

Anatomical Context for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

Organs/tissues related to Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy:

MalaCards : Liver, Brain

Publications for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

Articles related to Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy:

# Title Authors PMID Year
1
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness. 57
33964137 2021
2
Ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patients. 57
10881263 2000

Variations for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNF220 NM_018150.4(RNF220):c.1088G>A (p.Arg363Gln) SNV Pathogenic
1333094 GRCh37: 1:45101796-45101796
GRCh38: 1:44636124-44636124
2 RNF220 NM_018150.4(RNF220):c.1094G>A (p.Arg365Gln) SNV Pathogenic
1333093 GRCh37: 1:45101802-45101802
GRCh38: 1:44636130-44636130

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy:

73
# Symbol AA change Variation ID SNP ID
1 RNF220 p.Arg363Gln VAR_086785
2 RNF220 p.Arg365Gln VAR_086786

Expression for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy.

Pathways for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

GO Terms for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

Sources for Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
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35 IUPHAR
36 LifeMap
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40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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