HLD20
MCID: LKD033
MIFTS: 20

Leukodystrophy, Hypomyelinating, 20 (HLD20)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 20

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 20:

Name: Leukodystrophy, Hypomyelinating, 20 57 6
Hld20 57 12
Hypomyelinating Leukodystrophy 20 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
death in childhood
progressive disorder
normal early development
onset between 12 and 18 month of age
one consanguineous family has been reported (last curated october 2020)

Inheritance:
autosomal recessive


HPO:

31
leukodystrophy, hypomyelinating, 20:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


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 05-Apr-2021)

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

Disease Ontology : 12 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:

31 (showing 18, show less)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 ptosis 31 very rare (1%) HP:0000508
3 developmental regression 31 very rare (1%) HP:0002376
4 coarse facial features 31 very rare (1%) HP:0000280
5 spastic tetraplegia 31 very rare (1%) HP:0002510
6 irritability 31 very rare (1%) HP:0000737
7 babinski sign 31 very rare (1%) HP:0003487
8 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
9 feeding difficulties 31 very rare (1%) HP:0011968
10 torticollis 31 very rare (1%) HP:0000473
11 cerebellar atrophy 31 very rare (1%) HP:0001272
12 hirsutism 31 very rare (1%) HP:0001007
13 brisk reflexes 31 very rare (1%) HP:0001348
14 chronic constipation 31 very rare (1%) HP:0012450
15 progressive microcephaly 31 very rare (1%) HP:0000253
16 punctate periventricular t2 hyperintense foci 31 very rare (1%) HP:0030081
17 reduced brain n-acetyl aspartate level by mrs 31 very rare (1%) HP:0012708
18 elevated brain choline level by mrs 31 very rare (1%) HP:0012706

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
developmental regression
dystonia
loss of speech
enlarged ventricles
more
Head And Neck Eyes:
ptosis

Head And Neck Face:
coarse facial features

Skin Nails Hair Hair:
hirsutism

Head And Neck Head:
microcephaly, progressive

Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
constipation
feeding difficulties

Head And Neck Neck:
torticollis

Growth Other:
poor overall growth

Clinical features from OMIM®:

619071 (Updated 05-Apr-2021)

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 20

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

Genetic Tests for Leukodystrophy, Hypomyelinating, 20

Anatomical Context for Leukodystrophy, Hypomyelinating, 20

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 20:

40
Brain

Publications for Leukodystrophy, Hypomyelinating, 20

Articles related to Leukodystrophy, Hypomyelinating, 20:

(showing 2, show less)
# Title Authors PMID Year
1
CNP deficiency causes severe hypomyelinating leukodystrophy in humans. 6 57
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:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNP NM_033133.5(CNP):c.245C>T (p.Ser82Leu) SNV Pathogenic 983536 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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