HLD16
MCID: LKD029
MIFTS: 21

Leukodystrophy, Hypomyelinating, 16 (HLD16)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 16

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 16:

Name: Leukodystrophy, Hypomyelinating, 16 57 72 29 6
Hld16 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation (in most patients)
onset in the first days or weeks of life
some patients may have normal cognitive development


HPO:

31
leukodystrophy, hypomyelinating, 16:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Leukodystrophy, Hypomyelinating, 16

OMIM® : 57 Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum (summary by Simons et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (617964) (Updated 05-Apr-2021)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 16, is also known as hld16. An important gene associated with Leukodystrophy, Hypomyelinating, 16 is TMEM106B (Transmembrane Protein 106B). Related phenotypes are intellectual disability and feeding difficulties

UniProtKB/Swiss-Prot : 72 Leukodystrophy, hypomyelinating, 16: An autosomal dominant disorder characterized by hypomyelination, leukodystrophy, and thin corpus callosum observed on brain imaging. Clinical features include hypotonia, nystagmus, and mildly delayed motor development with onset in infancy, ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties.

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 16

Human phenotypes related to Leukodystrophy, Hypomyelinating, 16:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 feeding difficulties 31 very rare (1%) HP:0011968
3 seizure 31 very rare (1%) HP:0001250
4 hyperreflexia 31 HP:0001347
5 abnormal pyramidal sign 31 HP:0007256
6 nystagmus 31 HP:0000639
7 dysarthria 31 HP:0001260
8 delayed speech and language development 31 HP:0000750
9 hypertonia 31 HP:0001276
10 dysmetria 31 HP:0001310
11 dystonia 31 HP:0001332
12 gait ataxia 31 HP:0002066
13 broad-based gait 31 HP:0002136
14 hypoplasia of the corpus callosum 31 HP:0002079
15 leukodystrophy 31 HP:0002415
16 generalized hypotonia 31 HP:0001290
17 intention tremor 31 HP:0002080

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysmetria
dystonia
gait ataxia
more
Head And Neck Eyes:
saccadic pursuit
nystagmus (horizontal, vertical, rotary)

Muscle Soft Tissue:
hypertonia
hypotonia

Abdomen Gastrointestinal:
poor feeding (in some patients)

Clinical features from OMIM®:

617964 (Updated 05-Apr-2021)

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 16

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 16

Genetic Tests for Leukodystrophy, Hypomyelinating, 16

Genetic tests related to Leukodystrophy, Hypomyelinating, 16:

# Genetic test Affiliating Genes
1 Leukodystrophy, Hypomyelinating, 16 29 TMEM106B

Anatomical Context for Leukodystrophy, Hypomyelinating, 16

Publications for Leukodystrophy, Hypomyelinating, 16

Articles related to Leukodystrophy, Hypomyelinating, 16:

# Title Authors PMID Year
1
The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. 57 6
29444210 2018
2
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. 57 6
29186371 2017

Variations for Leukodystrophy, Hypomyelinating, 16

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 16:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM106B NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) SNV Pathogenic/Likely pathogenic 523236 rs1554310600 GRCh37: 7:12271530-12271530
GRCh38: 7:12231904-12231904
2 TMEM106B NM_001134232.2(TMEM106B):c.55G>C (p.Asp19His) SNV Uncertain significance 1028107 GRCh37: 7:12254491-12254491
GRCh38: 7:12214865-12214865

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 16:

72
# Symbol AA change Variation ID SNP ID
1 TMEM106B p.Asp252Asn VAR_081068 rs155431060

Expression for Leukodystrophy, Hypomyelinating, 16

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 16.

Pathways for Leukodystrophy, Hypomyelinating, 16

GO Terms for Leukodystrophy, Hypomyelinating, 16

Sources for Leukodystrophy, Hypomyelinating, 16

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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