MCID: TBB006
MIFTS: 8

Tubb4a-Related Leukodystrophy

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

Aliases & Classifications for Tubb4a-Related Leukodystrophy

MalaCards integrated aliases for Tubb4a-Related Leukodystrophy:

Name: Tubb4a-Related Leukodystrophy 23 25
Tubb4a-Associated Hypomyelinating Leukoencephalopathies 25
Tubb4a-Related Hypomyelinating Leukodystrophy 25

Characteristics:

GeneReviews:

23
Penetrance The penetrance is not known but appears to be 100%...

Classifications:



Summaries for Tubb4a-Related Leukodystrophy

Genetics Home Reference : 25 TUBB4A-related leukodystrophy is a disorder that affects the nervous system. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In particular, TUBB4A-related leukodystrophy involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. In some affected individuals, myelin may also break down, which is known as demyelination.

MalaCards based summary : Tubb4a-Related Leukodystrophy, also known as tubb4a-associated hypomyelinating leukoencephalopathies, is related to hypomyelinating leukoencephalopathy and leukodystrophy.

GeneReviews: NBK395611

Related Diseases for Tubb4a-Related Leukodystrophy

Diseases in the Leukodystrophy family:

Leukodystrophy, Adult-Onset, Autosomal Dominant Tubb4a-Related Leukodystrophy

Diseases related to Tubb4a-Related Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hypomyelinating leukoencephalopathy 10.1
2 leukodystrophy 10.0

Symptoms & Phenotypes for Tubb4a-Related Leukodystrophy

Drugs & Therapeutics for Tubb4a-Related Leukodystrophy

Search Clinical Trials , NIH Clinical Center for Tubb4a-Related Leukodystrophy

Genetic Tests for Tubb4a-Related Leukodystrophy

Anatomical Context for Tubb4a-Related Leukodystrophy

Publications for Tubb4a-Related Leukodystrophy

Articles related to Tubb4a-Related Leukodystrophy:

id Title Authors Year
1
TUBB4A-Related Leukodystrophy ( 27809427 )
1993

Variations for Tubb4a-Related Leukodystrophy

Expression for Tubb4a-Related Leukodystrophy

Search GEO for disease gene expression data for Tubb4a-Related Leukodystrophy.

Pathways for Tubb4a-Related Leukodystrophy

GO Terms for Tubb4a-Related Leukodystrophy

Sources for Tubb4a-Related Leukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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