HLD22
MCID: LKD035
MIFTS: 23

Leukodystrophy, Hypomyelinating, 22 (HLD22)

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, 22

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 22:

Name: Leukodystrophy, Hypomyelinating, 22 57 73 28 5
Hld22 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
de novo mutation
three unrelated patients have been reported (last curated may 2021)


Classifications:



Summaries for Leukodystrophy, Hypomyelinating, 22

OMIM®: 57 Hypomyelinating leukodystrophy-22 (HLD22) is a neurologic disorder characterized by global developmental delay with mildly impaired intellectual development and marked motor impairment with limited or no ability to walk and dysarthria. Affected individuals have limb spasticity with pyramidal signs, as well as nystagmus, hypermetropia, and astigmatism. Brain imaging shows hypomyelination and a delay in myelination, although serial imaging shows some progress in both the central and peripheral white matter regions (Riedhammer et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (619328) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 22, is also known as hld22. An important gene associated with Leukodystrophy, Hypomyelinating, 22 is CLDN11 (Claudin 11). Affiliated tissues include brain, eye and cerebellum, and related phenotypes are nystagmus and dysarthria

UniProtKB/Swiss-Prot: 73 An autosomal dominant disorder characterized by global developmental delay, mildly impaired intellectual development, motor impairment, limb spasticity, dysarthria, and eye abnormalities including hypermetropia. Brain imaging shows hypomyelinating leukodystrophy.

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 22

Human phenotypes related to Leukodystrophy, Hypomyelinating, 22:

30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 Very rare (1%) HP:0000639
2 dysarthria 30 Very rare (1%) HP:0001260
3 short neck 30 Very rare (1%) HP:0000470
4 delayed speech and language development 30 Very rare (1%) HP:0000750
5 pes planus 30 Very rare (1%) HP:0001763
6 flexion contracture 30 Very rare (1%) HP:0001371
7 strabismus 30 Very rare (1%) HP:0000486
8 babinski sign 30 Very rare (1%) HP:0003487
9 intellectual disability, borderline 30 Very rare (1%) HP:0006889
10 astigmatism 30 Very rare (1%) HP:0000483
11 optic disc pallor 30 Very rare (1%) HP:0000543
12 hypermetropia 30 Very rare (1%) HP:0000540
13 cns hypomyelination 30 Very rare (1%) HP:0003429
14 inability to walk 30 Very rare (1%) HP:0002540
15 lower limb hypertonia 30 Very rare (1%) HP:0006895
16 drooling 30 Very rare (1%) HP:0002307
17 lower limb hyperreflexia 30 Very rare (1%) HP:0002395
18 upper limb hypertonia 30 Very rare (1%) HP:0200049
19 delayed ability to sit 30 Very rare (1%) HP:0025336
20 delayed ability to walk 30 Very rare (1%) HP:0031936
21 axial hypotonia 30 Very rare (1%) HP:0008936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
hyperreflexia
dysarthria
global developmental delay
pyramidal signs
more
Muscle Soft Tissue:
hypertonia

Skeletal Feet:
flat feet

Head And Neck Neck:
neck arching

Head And Neck Eyes:
nystagmus
strabismus
astigmatism
hypermetropia

Head And Neck Mouth:
drooling
oromotor hypotonia

Skeletal Limbs:
limb contractures

Clinical features from OMIM®:

619328 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 22

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 22

Genetic Tests for Leukodystrophy, Hypomyelinating, 22

Genetic tests related to Leukodystrophy, Hypomyelinating, 22:

# Genetic test Affiliating Genes
1 Leukodystrophy, Hypomyelinating, 22 28 CLDN11

Anatomical Context for Leukodystrophy, Hypomyelinating, 22

Organs/tissues related to Leukodystrophy, Hypomyelinating, 22:

MalaCards : Brain, Eye, Cerebellum

Publications for Leukodystrophy, Hypomyelinating, 22

Articles related to Leukodystrophy, Hypomyelinating, 22:

# Title Authors PMID Year
1
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. 57 5
33313762 2021
2
CNS myelin and sertoli cell tight junction strands are absent in Osp/claudin-11 null mice. 57
10612400 1999

Variations for Leukodystrophy, Hypomyelinating, 22

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 22:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLDN11 NM_005602.6(CLDN11):c.622T>C (p.Ter208Gln) SNV Pathogenic
1106668 GRCh37: 3:170150542-170150542
GRCh38: 3:170432754-170432754
2 CLDN11 NM_005602.6(CLDN11):c.622T>G (p.Ter208Glu) SNV Pathogenic
1106670 GRCh37: 3:170150542-170150542
GRCh38: 3:170432754-170432754

Expression for Leukodystrophy, Hypomyelinating, 22

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 22.

Pathways for Leukodystrophy, Hypomyelinating, 22

GO Terms for Leukodystrophy, Hypomyelinating, 22

Sources for Leukodystrophy, Hypomyelinating, 22

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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