HLD20
MCID: LKD033
MIFTS: 21

Leukodystrophy, Hypomyelinating, 20 (HLD20)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 20

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 20:

Name: Leukodystrophy, Hypomyelinating, 20 57 73 28 5
Hld20 57 11 73
Hypomyelinating Leukodystrophy 20 11

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder
death in childhood
normal early development
onset between 12 and 18 month of age
one consanguineous family has been reported (last curated october 2020)


Classifications:



Summaries for Leukodystrophy, Hypomyelinating, 20

OMIM®: 57 Hypomyelinating leukodystrophy-20 (HLD20) is an autosomal recessive neurodegenerative disorder characterized by the loss of developmental milestones at about 12 to 16 months of age after normal early development. Patients lose motor, language, and cognitive skills and show poor overall growth with microcephaly. The disorder is progressive, resulting in feeding difficulties and spastic quadriplegia. Some patients may have seizures. Brain imaging shows subcortical white matter abnormalities and a thin corpus callosum, suggesting a myelination defect. Death usually occurs in childhood (Al-Abdi et al., 2020). For a discussion of genetic heterogeneity of HLD, see 312080. (619071) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 20, is also known as hld20. An important gene associated with Leukodystrophy, Hypomyelinating, 20 is CNP (2',3'-Cyclic Nucleotide 3' Phosphodiesterase). Affiliated tissues include brain, and related phenotypes are scoliosis and ptosis

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by neuroregression and loss of motor, language and cognitive skills, after a normal early development. Disease onset is between 12 and 18 month of age. Patients show poor overall growth, microcephaly, feeding difficulties and spastic quadriplegia. Some patients may have seizures. Death in childhood may occur. Hypomyelinating leukodystrophy with subcortical and periventricular white matter abnormalities is seen on brain imaging.

Disease Ontology: 11 A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has material basis in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2.

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 20

Human phenotypes related to Leukodystrophy, Hypomyelinating, 20:

30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 Very rare (1%) HP:0002650
2 ptosis 30 Very rare (1%) HP:0000508
3 developmental regression 30 Very rare (1%) HP:0002376
4 coarse facial features 30 Very rare (1%) HP:0000280
5 spastic tetraplegia 30 Very rare (1%) HP:0002510
6 irritability 30 Very rare (1%) HP:0000737
7 babinski sign 30 Very rare (1%) HP:0003487
8 feeding difficulties 30 Very rare (1%) HP:0011968
9 cerebellar atrophy 30 Very rare (1%) HP:0001272
10 hirsutism 30 Very rare (1%) HP:0001007
11 hypoplasia of the corpus callosum 30 Very rare (1%) HP:0002079
12 brisk reflexes 30 Very rare (1%) HP:0001348
13 torticollis 30 Very rare (1%) HP:0000473
14 chronic constipation 30 Very rare (1%) HP:0012450
15 progressive microcephaly 30 Very rare (1%) HP:0000253
16 punctate periventricular t2 hyperintense foci 30 Very rare (1%) HP:0030081
17 reduced brain n-acetyl aspartate level by mrs 30 Very rare (1%) HP:0012708
18 elevated brain choline level by mrs 30 Very rare (1%) HP:0012706

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
developmental regression
dystonia
loss of speech
thin corpus callosum
more
Head And Neck Eyes:
ptosis

Head And Neck Face:
coarse facial features

Head And Neck Neck:
torticollis

Head And Neck Head:
microcephaly, progressive

Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
constipation
feeding difficulties

Skin Nails Hair Hair:
hirsutism

Growth Other:
poor overall growth

Clinical features from OMIM®:

619071 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 20

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 20

Genetic Tests for Leukodystrophy, Hypomyelinating, 20

Genetic tests related to Leukodystrophy, Hypomyelinating, 20:

# Genetic test Affiliating Genes
1 Leukodystrophy, Hypomyelinating, 20 28 CNP

Anatomical Context for Leukodystrophy, Hypomyelinating, 20

Organs/tissues related to Leukodystrophy, Hypomyelinating, 20:

MalaCards : Brain

Publications for Leukodystrophy, Hypomyelinating, 20

Articles related to Leukodystrophy, Hypomyelinating, 20:

# Title Authors PMID Year
1
CNP deficiency causes severe hypomyelinating leukodystrophy in humans. 57 5
32128616 2020
2
Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination. 57
12590258 2003

Variations for Leukodystrophy, Hypomyelinating, 20

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 20:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNP NM_033133.5(CNP):c.245C>T (p.Ser82Leu) SNV Pathogenic
983536 rs2050933471 GRCh37: 17:40120327-40120327
GRCh38: 17:41968309-41968309

Expression for Leukodystrophy, Hypomyelinating, 20

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 20.

Pathways for Leukodystrophy, Hypomyelinating, 20

GO Terms for Leukodystrophy, Hypomyelinating, 20

Sources for Leukodystrophy, Hypomyelinating, 20

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
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
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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