Leukodystrophy, Hypomyelinating, 16 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 16

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 16:

Name: Leukodystrophy, Hypomyelinating, 16 ⁵⁷ ⁷³ ²⁸ ⁵ ³⁸

Hld16 ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

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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 08-Dec-2022)

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 related phenotypes are intellectual disability and seizure

UniProtKB/Swiss-Prot: ⁷³ 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.

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Related Diseases for Leukodystrophy, Hypomyelinating, 16

Diseases in the Hypomyelinating Leukodystrophy family:

Leukodystrophy, Hypomyelinating, 3	Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Hypomyelinating, 5	Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 6	Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Hypomyelinating, 10	Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Hypomyelinating, 12	Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Hypomyelinating, 14	Leukodystrophy, Hypomyelinating, 15
Leukodystrophy, Hypomyelinating, 16	Leukodystrophy, Hypomyelinating, 17
Leukodystrophy, Hypomyelinating, 18	Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Leukodystrophy, Hypomyelinating, 20	Leukodystrophy, Hypomyelinating, 21
Leukodystrophy, Hypomyelinating, 22	Leukodystrophy, Hypomyelinating, 24

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Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 16

Human phenotypes related to Leukodystrophy, Hypomyelinating, 16:

³⁰ (show all 30)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³⁰	Very rare (1%)	HP:0001249
2	seizure ³⁰	Very rare (1%)	HP:0001250
3	failure to thrive ³⁰	Very rare (1%)	HP:0001508
4	abnormal pyramidal sign ³⁰	Very rare (1%)	HP:0007256
5	dysarthria ³⁰	Very rare (1%)	HP:0001260
6	hypotonia ³⁰	Very rare (1%)	HP:0001252
7	global developmental delay ³⁰	Very rare (1%)	HP:0001263
8	hypertonia ³⁰	Very rare (1%)	HP:0001276
9	absent speech ³⁰	Very rare (1%)	HP:0001344
10	dysmetria ³⁰	Very rare (1%)	HP:0001310
11	psychosis ³⁰	Very rare (1%)	HP:0000709
12	gait ataxia ³⁰	Very rare (1%)	HP:0002066
13	optic disc pallor ³⁰	Very rare (1%)	HP:0000543
14	feeding difficulties ³⁰	Very rare (1%)	HP:0011968
15	choreoathetosis ³⁰	Very rare (1%)	HP:0001266
16	hypoplasia of the corpus callosum ³⁰	Very rare (1%)	HP:0002079
17	intention tremor ³⁰	Very rare (1%)	HP:0002080
18	brisk reflexes ³⁰	Very rare (1%)	HP:0001348
19	shuffling gait ³⁰	Very rare (1%)	HP:0002362
20	vertical nystagmus ³⁰	Very rare (1%)	HP:0010544
21	delayed cns myelination ³⁰	Very rare (1%)	HP:0002188
22	saccadic smooth pursuit ³⁰	Very rare (1%)	HP:0001152
23	gaze-evoked nystagmus ³⁰	Very rare (1%)	HP:0000640
24	stooped posture ³⁰	Very rare (1%)	HP:0025403
25	horizontal pendular nystagmus ³⁰	Very rare (1%)	HP:0007811
26	rotary nystagmus ³⁰	Very rare (1%)	HP:0001583
27	delayed ability to walk ³⁰	Very rare (1%)	HP:0031936
28	dystonia ³⁰		HP:0001332
29	broad-based gait ³⁰		HP:0002136
30	leukodystrophy ³⁰		HP:0002415

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysmetria
dystonia
gait ataxia
more

Head And Neck Eyes:
saccadic pursuit
nystagmus (horizontal, vertical, rotary)

Muscle Soft Tissue:
hypotonia
hypertonia

Abdomen Gastrointestinal:
poor feeding (in some patients)

Clinical features from OMIM®:

617964 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 16

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

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Genetic Tests for Leukodystrophy, Hypomyelinating, 16

Genetic tests related to Leukodystrophy, Hypomyelinating, 16:

#	Genetic test	Affiliating Genes
1	Leukodystrophy, Hypomyelinating, 16 ²⁸	TMEM106B

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Anatomical Context for Leukodystrophy, Hypomyelinating, 16

Organs/tissues related to Leukodystrophy, Hypomyelinating, 16:

MalaCards : Brain

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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 ⁵	Yan H...Burmeister M	29444210	2018
2	A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. ⁵⁷ ⁵	Simons C...Wolf NI	29186371	2017
3	A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay. ⁵	Ikemoto S...Saitsu H	32595021	2020
4	A role of the frontotemporal lobar degeneration risk factor TMEM106B in myelination. ⁵	Feng T...Hu F	32572497	2020
5	TMEM106B and myelination: rare leukodystrophy families reveal unexpected connections. ⁵	Zhou X...Rademakers R	29194508	2017
6	Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. ⁵	Santamaria R...Vilageliu L	17309651	2007
7	Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. ⁵	Santamaria R...Grinberg D	16941474	2006
8	beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. ⁵	Morrone A...Zammarchi E	10737981	2000
9	Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. ⁵	Silva CM...Giugliani R	10338095	1999

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Genes for Leukodystrophy, Hypomyelinating, 16

Genes related to Leukodystrophy, Hypomyelinating, 16 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TMEM106B	Transmembrane Protein 106B	Protein Coding	1307.85	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	29186371 29444210 29194508 (more) 32572497 32595021 10338095 17309651 16941474 10737981

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Variations for Leukodystrophy, Hypomyelinating, 16

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 16:

⁵

#	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	rs1781655491	GRCh37: 7:12254491-12254491 GRCh38: 7:12214865-12214865
3	TMEM106B	NM_001134232.2(TMEM106B):c.442-44_442-43insGTTT	INSERT	Benign	1342220		GRCh37: 7:12269260-12269261 GRCh38: 7:12229634-12229635
4	TMEM106B	NM_001134232.2(TMEM106B):c.686+29T>A	SNV	Benign	1342221		GRCh37: 7:12270770-12270770 GRCh38: 7:12231144-12231144
5	TMEM106B	NM_001134232.2(TMEM106B):c.554C>G (p.Thr185Ser)	SNV	Benign	1168238		GRCh37: 7:12269417-12269417 GRCh38: 7:12229791-12229791
6	TMEM106B	NM_001134232.2(TMEM106B):c.687-11A>G	SNV	Benign	1168270		GRCh37: 7:12271452-12271452 GRCh38: 7:12231826-12231826

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

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	TMEM106B	p.Asp252Asn	VAR_081068	rs1554310600

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Expression for Leukodystrophy, Hypomyelinating, 16

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

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Pathways for Leukodystrophy, Hypomyelinating, 16

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GO Terms for Leukodystrophy, Hypomyelinating, 16

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Sources for Leukodystrophy, Hypomyelinating, 16

¹ BitterDB

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⁴ ClinicalTrials

⁵ ClinVar

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⁸ Cosmic

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

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²⁶ GEO DataSets

²⁷ GO

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³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

HLD16 MCID: LKD029 MIFTS: 25	Leukodystrophy, Hypomyelinating, 16 (HLD16) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Leukodystrophy, Hypomyelinating, 16 (HLD16)

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 16

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 16:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Leukodystrophy, Hypomyelinating, 16

Related Diseases for Leukodystrophy, Hypomyelinating, 16

Diseases in the Hypomyelinating Leukodystrophy family:

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 16

Human phenotypes related to Leukodystrophy, Hypomyelinating, 16:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 16

Genetic Tests for Leukodystrophy, Hypomyelinating, 16

Genetic tests related to Leukodystrophy, Hypomyelinating, 16:

Anatomical Context for Leukodystrophy, Hypomyelinating, 16

Organs/tissues related to Leukodystrophy, Hypomyelinating, 16:

Publications for Leukodystrophy, Hypomyelinating, 16

Articles related to Leukodystrophy, Hypomyelinating, 16:

Genes for Leukodystrophy, Hypomyelinating, 16

Genes related to Leukodystrophy, Hypomyelinating, 16 (1 elite genes):

Variations for Leukodystrophy, Hypomyelinating, 16

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 16:

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

Expression for Leukodystrophy, Hypomyelinating, 16

Pathways for Leukodystrophy, Hypomyelinating, 16

GO Terms for Leukodystrophy, Hypomyelinating, 16

Sources for Leukodystrophy, Hypomyelinating, 16