HLD16
MCID: LKD029
MIFTS: 22

Leukodystrophy, Hypomyelinating, 16 (HLD16)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 16

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 16:

Name: Leukodystrophy, Hypomyelinating, 16 57 75 6
Hld16 57 75

Characteristics:

OMIM:

57
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:

32
leukodystrophy, hypomyelinating, 16:
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)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 16, is also known as hld16. An important gene associated with Leukodystrophy, Hypomyelinating, 16 is TMEM106B (Transmembrane Protein 106B). Affiliated tissues include brain and eye, and related phenotypes are nystagmus and intellectual disability

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Leukodystrophy, Hypomyelinating, 16

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 16

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
gait ataxia
dysmetria
intention tremor
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

Human phenotypes related to Leukodystrophy, Hypomyelinating, 16:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 very rare (1%) HP:0001249
3 seizures 32 very rare (1%) HP:0001250
4 dysarthria 32 HP:0001260
5 hyperreflexia 32 HP:0001347
6 delayed speech and language development 32 HP:0000750
7 hypertonia 32 HP:0001276
8 gait ataxia 32 HP:0002066
9 dysmetria 32 HP:0001310
10 intention tremor 32 HP:0002080
11 dystonia 32 HP:0001332
12 generalized hypotonia 32 HP:0001290
13 hypoplasia of the corpus callosum 32 HP:0002079
14 leukodystrophy 32 HP:0002415
15 broad-based gait 32 HP:0002136
16 abnormal pyramidal sign 32 HP:0007256

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 16

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

Genetic Tests for Leukodystrophy, Hypomyelinating, 16

Anatomical Context for Leukodystrophy, Hypomyelinating, 16

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 16:

41
Brain, Eye

Publications for Leukodystrophy, Hypomyelinating, 16

Variations for Leukodystrophy, Hypomyelinating, 16

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 16:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM106B NM_001134232.1(TMEM106B): c.754G> A (p.Asp252Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 12271530: 12271530
2 TMEM106B NM_001134232.1(TMEM106B): c.754G> A (p.Asp252Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 12231904: 12231904

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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