HLD6
MCID: LKD019
MIFTS: 53

Leukodystrophy, Hypomyelinating, 6 (HLD6)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 6

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 6:

Name: Leukodystrophy, Hypomyelinating, 6 57 19 73 71
Hypomyelinating Leukodystrophy 6 11 28 5 14
Habc 57 11 19 73
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum 11 19 58
H-Abc 11 19 58
Hld6 57 11 19
Leukodystrophy, Hypomyelinating, with Atrophy of the Basal Ganglia and Cerebellum 57 19
Hypomyelinating Leukodystrophy with Atrophy of the Basal Ganglia and Cerebellum 11 73
Leukodystrophy, Hypomyelinating, Type 6 38
Hld 73

Characteristics:


Inheritance:

Leukodystrophy, Hypomyelinating, 6: Autosomal dominant 57
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum: Autosomal dominant 58

Prevelance:

Hypomyelination with Atrophy of Basal Ganglia and Cerebellum: <1/1000000 (Worldwide) 58

Age Of Onset:

Hypomyelination with Atrophy of Basal Ganglia and Cerebellum: Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
progressive disorder
most cases result from de novo mutation
initial development may appear normal
onset in infancy up to 3 years


HPO:

30
leukodystrophy, hypomyelinating, 6:
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Leukodystrophy, Hypomyelinating, 6

OMIM®: 57 Hypomyelinating leukodystrophy-6, also known as hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum, is a neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen. The disorder usually shows sporadic occurrence, but sibs may be affected if a parent is somatic mosaic for the mutation (summary by Simons et al., 2013). Hypomyelinating leukodystrophies (HLD) comprise a genetically heterogeneous entity in which there is a substantial permanent deficit in myelin deposition within the brain, resulting in neurologic deficits (van der Knaap et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (612438) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 6, also known as hypomyelinating leukodystrophy 6, is related to leukodystrophy, hypomyelinating, 3 and leukodystrophy, hypomyelinating, 11, and has symptoms including ataxia, tremor and seizures. An important gene associated with Leukodystrophy, Hypomyelinating, 6 is TUBB4A (Tubulin Beta 4A Class IVa), and among its related pathways/superpathways are Cell Cycle, Mitotic and Vesicle-mediated transport. Affiliated tissues include cerebellum, brain and eye, and related phenotypes are nystagmus and hearing impairment

GARD: 19 Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms may include delayed motor development, learning difficulties, upper-motor neuron dysfunction (spasticity, exaggerated reflexes, and Babinski signs), dystonia, rigidity, involuntary movements, and speech and swallowing problems. H-ABC is caused by a genetic change in the TUBB4A gene. Inheritance is autosomal dominant, but most cases are due to a new genetic change occurring for the first time in a person with the condition.

UniProtKB/Swiss-Prot: 73 A neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen.

Disease Ontology: 11 A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has material basis in heterozygous mutation in the TUBB4A gene on chromosome 19p13.

Orphanet: 58 A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

Related Diseases for Leukodystrophy, Hypomyelinating, 6

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

Diseases related to Leukodystrophy, Hypomyelinating, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy, hypomyelinating, 3 31.9 POLR3A PLP1
2 leukodystrophy, hypomyelinating, 11 31.8 POLR3B POLR3A
3 leukodystrophy, hypomyelinating, 13 31.8 PYCR2 POLR3B
4 leukodystrophy, hypomyelinating, 9 31.8 POLR3B POLR3A
5 leukodystrophy, hypomyelinating, 10 31.8 PYCR2 POLR3B POLR3A
6 leukodystrophy, hypomyelinating, 12 31.7 PYCR2 EIF2B1
7 dystonia 30.5 TUBB4A SGCE GNAL CIZ1 ANO3
8 tubulinopathy 30.4 TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
9 leukodystrophy, hypomyelinating, 5 30.3 TUBB4A POLR3A PLP1
10 leukodystrophy, hypomyelinating, 4 30.2 TUBB4A PYCR2 POLR3A PLP1
11 tubulin, beta 30.1 TUBB4B TUBB4A TUBB2B TUBB2A
12 movement disease 29.9 SGCE GNAL CIZ1 ANO3
13 dystonia 12 29.9 TUBB4A SGCE GNAL CIZ1 ANO3
14 leukodystrophy 29.8 UFM1 TUBB4A PYCR2 POLR3B POLR3A PLP1
15 hypomyelinating leukodystrophy 29.5 UFM1 TUBB4A TUBA8 TUBA1A PYCR2 POLR3B
16 tubb4a-related leukodystrophy 11.5
17 leukodystrophy, hypomyelinating, 15 10.9
18 leukodystrophy, hypomyelinating, 19, transient infantile 10.9
19 leukodystrophy, hypomyelinating, 20 10.9
20 leukodystrophy, hypomyelinating, 21 10.9
21 leukodystrophy, hypomyelinating, 22 10.9
22 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy 10.9
23 aceruloplasminemia 10.4
24 mild cognitive impairment 10.4
25 polr3-related leukodystrophy 10.3 POLR3B POLR3A
26 cataract 10.3
27 dystonia 23 10.3 CIZ1 ANO3
28 spastic ataxia 8 10.3 PYCR2 POLR3B
29 tubulinopathy-associated dysgyria 10.3 TUBB2B TUBA1A
30 dystonia 24 10.3 GNAL ANO3
31 cerebrooculofacioskeletal syndrome 2 10.3 POLR3B POLR3A
32 spastic ataxia 4 10.3 POLR3B EIF2B1
33 dystonia 27 10.3 GNAL CIZ1 ANO3
34 cerebellofaciodental syndrome 10.3 POLR3B POLR3A
35 complex cortical dysplasia with other brain malformations 10.2 TUBB2B TUBB2A
36 hypomyelinating leukoencephalopathy 10.2 POLR3B POLR3A PLP1
37 lissencephaly, x-linked, 2 10.2 TUBB2B TUBA8 TUBA1A
38 polymicrogyria, bilateral perisylvian, x-linked 10.2 TUBB2B TUBA8 TUBA1A
39 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 10.2 POLR3B POLR3A PLP1
40 boucher-neuhauser syndrome 10.2 POLR3B POLR3A
41 fibrosis of extraocular muscles, congenital, 1 10.2 TUBB4B TUBB2A
42 torsion dystonia 4 10.2 TUBB4A GNAL CIZ1 ANO3
43 miller-dieker lissencephaly syndrome 10.2 TUBB2B TUBA8 TUBA1A
44 band heterotopia 10.2 TUBB2B TUBA8 TUBA1A
45 torsion dystonia 2 10.2 TUBB4A GNAL CIZ1 ANO3
46 dystonia 25 10.2 TUBB4A GNAL CIZ1 ANO3
47 megalencephalic leukoencephalopathy with subcortical cysts 2a 10.2 TUBB4A PLP1
48 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.2 POLR3B PLP1 EIF2B1
49 wilson disease 10.2
50 pelizaeus-merzbacher disease 10.2 TUBB4A POLR3B POLR3A PLP1

Graphical network of the top 20 diseases related to Leukodystrophy, Hypomyelinating, 6:



Diseases related to Leukodystrophy, Hypomyelinating, 6

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 6

Human phenotypes related to Leukodystrophy, Hypomyelinating, 6:

30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 Occasional (7.5%) HP:0000639
2 hearing impairment 30 Occasional (7.5%) HP:0000365
3 intellectual disability 30 HP:0001249
4 seizure 30 HP:0001250
5 spasticity 30 HP:0001257
6 ataxia 30 HP:0001251
7 dysarthria 30 HP:0001260
8 tremor 30 HP:0001337
9 delayed speech and language development 30 HP:0000750
10 microcephaly 30 HP:0000252
11 visual impairment 30 HP:0000505
12 optic atrophy 30 HP:0000648
13 short stature 30 HP:0004322
14 specific learning disability 30 HP:0001328
15 motor delay 30 HP:0001270
16 dystonia 30 HP:0001332
17 leukodystrophy 30 HP:0002415
18 cerebellar atrophy 30 HP:0001272
19 rigidity 30 HP:0002063
20 choreoathetosis 30 HP:0001266
21 poor speech 30 HP:0002465
22 cerebral hypomyelination 30 HP:0006808
23 axial hypotonia 30 HP:0008936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
ataxia
dysarthria
tremor
dystonia
more
Head And Neck Eyes:
optic atrophy
poor vision
oculogyric eye movements
nystagmus (uncommon)

Head And Neck Ears:
hearing loss (uncommon)

Head And Neck Head:
microcephaly

Growth Height:
short stature

Clinical features from OMIM®:

612438 (Updated 08-Dec-2022)

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 6:


ataxia; tremor; seizures; muscle rigidity; muscle spasticity

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.4 ANO3 CIZ1 GNAL PLP1 POLR3A PYCR2

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 6

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 6

Genetic Tests for Leukodystrophy, Hypomyelinating, 6

Genetic tests related to Leukodystrophy, Hypomyelinating, 6:

# Genetic test Affiliating Genes
1 Hypomyelinating Leukodystrophy 6 28 TUBB4A

Anatomical Context for Leukodystrophy, Hypomyelinating, 6

Organs/tissues related to Leukodystrophy, Hypomyelinating, 6:

MalaCards : Cerebellum, Brain, Eye, Bone, Skin, Breast, Lung
ODiseA: Peripheral Nerve, Brain

Publications for Leukodystrophy, Hypomyelinating, 6

Articles related to Leukodystrophy, Hypomyelinating, 6:

(show top 50) (show all 145)
# Title Authors PMID Year
1
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 62 57 5
24850488 2014
2
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. 62 57 5
24526230 2014
3
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. 62 57 5
23582646 2013
4
Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum. 62 57 5
16707859 2006
5
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. 57 5
25772097 2015
6
TUBB4A de novo mutations cause isolated hypomyelination. 57 5
25085639 2014
7
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. 57 5
24742798 2014
8
Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. 57 5
18851904 2009
9
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. 62 5
28973395 2017
10
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? 62 5
25545912 2015
11
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. 62 5
24974158 2015
12
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). 62 5
24706558 2014
13
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case. 62 57
15944912 2005
14
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. 62 57
12372733 2002
15
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. 5
29451896 2018
16
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
17
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 5
25356970 2015
18
Exome sequencing in undiagnosed inherited and sporadic ataxias. 5
25497598 2015
19
TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. 5
25168210 2015
20
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 5
25326637 2014
21
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 5
24785942 2014
22
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 5
23424103 2013
23
Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. 5
18466252 2008
24
Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. 57
17620549 2007
25
Mutations in the Caenorhabditis elegans beta-tubulin gene mec-7: effects on microtubule assembly and stability and on tubulin autoregulation. 5
7983175 1994
26
Derivation and evaluation of baseline creatinine equations for hospitalized children and adolescents: the AKI baseline creatinine equation. 62
35507142 2022
27
Fabrication and characterization of the H/J-type aggregates astaxanthin/bovine serum albumin/chitosan nanoparticles. 62
36347379 2022
28
Characterizing the physical function decline and disabilities present among older adults with fecal incontinence: a secondary analysis of the health, aging, and body composition study. 62
34379165 2022
29
H-ABC tubulinopathy revealed by label-free second harmonic generation microscopy. 62
36002546 2022
30
Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes. 62
35668344 2022
31
Oral health problems and risk of incident disability in two studies of older adults in the United Kingdom and the United States. 62
35437751 2022
32
Interspecies complementation identifies a pathway to assemble SNAREs. 62
35754735 2022
33
A new entity of hypomyelination with atrophy of basal ganglia and cerebellum-like syndrome with bilateral developmental cataract. 62
35791177 2022
34
Testicular androgens determining the incidence of spike-wave discharges in taiep rats: A model of H-ABC leukodystrophy. 62
35595190 2022
35
A hybrid ensemble and evolutionary algorithm for imbalanced classification and its application on bioinformatics. 62
35240419 2022
36
SNARE SYP132 mediates divergent traffic of plasma membrane H+-ATPase AHA1 and antimicrobial PR1 during bacterial pathogenesis. 62
35348763 2022
37
Post-intensive care screening: French translation and validation of the Healthy Aging Brain Care-Monitor, hybrid version. 62
35366901 2022
38
Cystatin C- and Creatinine-Based Glomerular Filtration Rate Estimation Differences and Muscle Quantity and Functional Status in Older Adults: The Health, Aging, and Body Composition Study. 62
35386603 2022
39
H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects. 62
35275727 2022
40
Healthy Aging Brain Care Monitor, Caregiver Version: Screening for Post-Intensive Care Syndrome. 62
35229151 2022
41
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC) Due to UFM1 Mutation in Roma Patients - Severe Early Encephalopathy with Stridor and Severe Hearing and Visual Impairment. A Single Center Experience. 62
35189806 2022
42
A Novel Breast Cancer Diagnosis Scheme With Intelligent Feature and Parameter Selections. 62
34844767 2022
43
Antileukemic effects of indigo naturalis constituents by "target constituent knock-out" coupled with semipreparative liquid chromatography and quadrupole time-of-flight mass spectrometry. 62
34254701 2021
44
Oral health and all-cause, cardiovascular disease, and respiratory mortality in older people in the UK and USA. 62
34385519 2021
45
Poor oral health and the association with diet quality and intake in older people in two studies in the UK and USA. 62
33468264 2021
46
Auditory impairment in H-ABC tubulinopathy. 62
32681585 2021
47
FGF23 and Cause-Specific Mortality in Community-Living Individuals-The Health, Aging, and Body Composition Study. 62
33170519 2021
48
Poor Oral Health and Inflammatory, Hemostatic, and Cardiac Biomarkers in Older Age: Results From Two Studies in the UK and USA. 62
32306041 2021
49
Designing a Predictive Model for Antiretroviral Regimen at the Antiretroviral Therapy Center in Chiro Hospital, Ethiopia. 62
34745487 2021
50
Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model. 62
34335454 2021

Variations for Leukodystrophy, Hypomyelinating, 6

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 6:

5 (show top 50) (show all 160)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TUBB4A NM_006087.4(TUBB4A):c.730G>C (p.Gly244Arg) SNV Pathogenic
803516 rs886041007 GRCh37: 19:6495780-6495780
GRCh38: 19:6495769-6495769
2 TUBB4A NM_006087.4(TUBB4A):c.941C>T (p.Ala314Val) SNV Pathogenic
267783 rs886041013 GRCh37: 19:6495569-6495569
GRCh38: 19:6495558-6495558
3 TUBB4A NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His) SNV Pathogenic
Not Provided
267793 rs886041021 GRCh37: 19:6495338-6495338
GRCh38: 19:6495327-6495327
4 TUBB4A NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr) SNV Pathogenic
192383 rs761635539 GRCh37: 19:6495942-6495942
GRCh38: 19:6495931-6495931
5 TUBB4A NM_006087.3:c.900C>A SNV Pathogenic
267781 GRCh37:
GRCh38:
6 TUBB4A NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) SNV Pathogenic
Pathogenic
50985 rs483352809 GRCh37: 19:6495765-6495765
GRCh38: 19:6495754-6495754
7 TUBB4A NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln) SNV Pathogenic
139452 rs587777467 GRCh37: 19:6502219-6502219
GRCh38: 19:6502208-6502208
8 TUBB4A NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg) SNV Pathogenic
139453 rs587777468 GRCh37: 19:6495977-6495977
GRCh38: 19:6495966-6495966
9 TUBB4A NM_006087.4(TUBB4A):c.785G>A (p.Arg262His) SNV Pathogenic
265314 rs886039470 GRCh37: 19:6495725-6495725
GRCh38: 19:6495714-6495714
10 TUBB4A NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) SNV Pathogenic
Pathogenic/Likely Pathogenic
135658 rs587777428 GRCh37: 19:6495282-6495282
GRCh38: 19:6495271-6495271
11 TUBB4A NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) SNV Pathogenic/Likely Pathogenic
217025 rs767399782 GRCh37: 19:6495747-6495747
GRCh38: 19:6495736-6495736
12 TUBB4A NM_006087.4(TUBB4A):c.686T>C (p.Val229Ala) SNV Likely Pathogenic
580978 rs1568409626 GRCh37: 19:6495824-6495824
GRCh38: 19:6495813-6495813
13 TUBB4A NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu) SNV Likely Pathogenic
135659 rs587777429 GRCh37: 19:6496043-6496043
GRCh38: 19:6496032-6496032
14 TUBB4A NM_006087.4(TUBB4A):c.544C>T (p.Pro182Ser) SNV Likely Pathogenic
1694453 GRCh37: 19:6495966-6495966
GRCh38: 19:6495955-6495955
15 TUBB4A NM_006087.4(TUBB4A):c.1021T>C (p.Phe341Leu) SNV Likely Pathogenic
930298 rs1914104455 GRCh37: 19:6495489-6495489
GRCh38: 19:6495478-6495478
16 TUBB4A NM_006087.4(TUBB4A):c.1065C>A (p.Asp355Glu) SNV Likely Pathogenic
807518 rs1599405952 GRCh37: 19:6495445-6495445
GRCh38: 19:6495434-6495434
17 TUBB4A NM_006087.4(TUBB4A):c.1054G>T (p.Ala352Ser) SNV Likely Pathogenic
807519 rs886041015 GRCh37: 19:6495456-6495456
GRCh38: 19:6495445-6495445
18 TUBB4A NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile) SNV Likely Pathogenic
209201 rs797045074 GRCh37: 19:6495346-6495346
GRCh38: 19:6495335-6495335
19 TUBB4A NM_006087.4(TUBB4A):c.796T>A (p.Phe266Ile) SNV Likely Pathogenic
1256060 GRCh37: 19:6495714-6495714
GRCh38: 19:6495703-6495703
20 TUBB4A NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp) SNV Likely Pathogenic
453295 rs748787734 GRCh37: 19:6495448-6495448
GRCh38: 19:6495437-6495437
21 TUBB4A NM_006087.4(TUBB4A):c.1181T>C (p.Phe394Ser) SNV Likely Pathogenic
689794 rs886041022 GRCh37: 19:6495329-6495329
GRCh38: 19:6495318-6495318
22 TUBB4A NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=) SNV Conflicting Interpretations Of Pathogenicity
893383 rs146906606 GRCh37: 19:6495844-6495844
GRCh38: 19:6495833-6495833
23 TUBB4A NM_006087.4(TUBB4A):c.673C>T (p.Leu225Phe) SNV Conflicting Interpretations Of Pathogenicity
578590 rs1568409639 GRCh37: 19:6495837-6495837
GRCh38: 19:6495826-6495826
24 TUBB4A NM_006087.4(TUBB4A):c.1054G>A (p.Ala352Thr) SNV Uncertain Significance
267785 rs886041015 GRCh37: 19:6495456-6495456
GRCh38: 19:6495445-6495445
25 TUBB4A NM_006087.4(TUBB4A):c.1316C>T (p.Ala439Val) SNV Uncertain Significance
656505 rs199569370 GRCh37: 19:6495194-6495194
GRCh38: 19:6495183-6495183
26 TUBB4A NM_006087.4(TUBB4A):c.276T>C (p.Phe92=) SNV Uncertain Significance
662114 rs1185869084 GRCh37: 19:6501299-6501299
GRCh38: 19:6501288-6501288
27 TUBB4A NM_006087.4(TUBB4A):c.*579C>T SNV Uncertain Significance
894561 rs143637409 GRCh37: 19:6494596-6494596
GRCh38: 19:6494585-6494585
28 TUBB4A NM_006087.4(TUBB4A):c.*627A>C SNV Uncertain Significance
894560 rs1469859932 GRCh37: 19:6494548-6494548
GRCh38: 19:6494537-6494537
29 TUBB4A NM_006087.4(TUBB4A):c.271G>A (p.Val91Met) SNV Uncertain Significance
847763 rs1914520090 GRCh37: 19:6501304-6501304
GRCh38: 19:6501293-6501293
30 TUBB4A NM_006087.4(TUBB4A):c.703G>A (p.Gly235Arg) SNV Uncertain Significance
643798 rs1171027384 GRCh37: 19:6495807-6495807
GRCh38: 19:6495796-6495796
31 TUBB4A NM_006087.4(TUBB4A):c.1172G>T (p.Arg391Leu) SNV Uncertain Significance
419697 rs886041021 GRCh37: 19:6495338-6495338
GRCh38: 19:6495327-6495327
32 TUBB4A NM_006087.4(TUBB4A):c.*440C>T SNV Uncertain Significance
330252 rs886054651 GRCh37: 19:6494735-6494735
GRCh38: 19:6494724-6494724
33 TUBB4A NC_000019.9:g.(?_6495175)_(6496252_?)dup DUP Uncertain Significance
1024714 GRCh37: 19:6495175-6496252
GRCh38:
34 TUBB4A NM_006087.4(TUBB4A):c.464T>C (p.Ile155Thr) SNV Uncertain Significance
1285592 GRCh37: 19:6496046-6496046
GRCh38: 19:6496035-6496035
35 TUBB4A NM_006087.4(TUBB4A):c.664T>G (p.Tyr222Asp) SNV Uncertain Significance
1720102 GRCh37: 19:6495846-6495846
GRCh38: 19:6495835-6495835
36 TUBB4A NM_006087.4(TUBB4A):c.270C>A (p.Phe90Leu) SNV Uncertain Significance
1428626 GRCh37: 19:6501305-6501305
GRCh38: 19:6501294-6501294
37 TUBB4A NM_006087.4(TUBB4A):c.230G>A (p.Arg77His) SNV Uncertain Significance
1063091 GRCh37: 19:6501345-6501345
GRCh38: 19:6501334-6501334
38 TUBB4A NM_006087.4(TUBB4A):c.286G>A (p.Gly96Arg) SNV Uncertain Significance
429952 rs1131691696 GRCh37: 19:6496224-6496224
GRCh38: 19:6496213-6496213
39 TUBB4A NM_006087.4(TUBB4A):c.855G>A (p.Thr285=) SNV Uncertain Significance
938785 rs763754651 GRCh37: 19:6495655-6495655
GRCh38: 19:6495644-6495644
40 TUBB4A NM_006087.4(TUBB4A):c.1200C>T (p.Gly400=) SNV Uncertain Significance
1018644 rs149366909 GRCh37: 19:6495310-6495310
GRCh38: 19:6495299-6495299
41 TUBB4A NM_006087.4(TUBB4A):c.278-15_278-6del DEL Uncertain Significance
1045776 rs768924966 GRCh37: 19:6496238-6496247
GRCh38: 19:6496227-6496236
42 TUBB4A NM_006087.4(TUBB4A):c.769A>G (p.Met257Val) SNV Uncertain Significance
1059099 GRCh37: 19:6495741-6495741
GRCh38: 19:6495730-6495730
43 TUBB4A NM_006087.4(TUBB4A):c.769A>T (p.Met257Leu) SNV Uncertain Significance
537237 rs1555754019 GRCh37: 19:6495741-6495741
GRCh38: 19:6495730-6495730
44 TUBB4A NM_006087.4(TUBB4A):c.167-12G>C SNV Uncertain Significance
894619 rs1914527740 GRCh37: 19:6501420-6501420
GRCh38: 19:6501409-6501409
45 TUBB4A NM_006087.4(TUBB4A):c.557C>T (p.Thr186Met) SNV Uncertain Significance
930564 rs1914148166 GRCh37: 19:6495953-6495953
GRCh38: 19:6495942-6495942
46 TUBB4A NM_006087.4(TUBB4A):c.1155C>A (p.Phe385Leu) SNV Uncertain Significance
931790 rs1914088089 GRCh37: 19:6495355-6495355
GRCh38: 19:6495344-6495344
47 TUBB4A NM_006087.4(TUBB4A):c.451C>T (p.Leu151Phe) SNV Uncertain Significance
1357980 GRCh37: 19:6496059-6496059
GRCh38: 19:6496048-6496048
48 TUBB4A NM_006087.4(TUBB4A):c.958C>T (p.Arg320Cys) SNV Uncertain Significance
1385578 GRCh37: 19:6495552-6495552
GRCh38: 19:6495541-6495541
49 TUBB4A NM_006087.4(TUBB4A):c.1213G>A (p.Glu405Lys) SNV Uncertain Significance
1366727 GRCh37: 19:6495297-6495297
GRCh38: 19:6495286-6495286
50 TUBB4A NM_006087.4(TUBB4A):c.848C>T (p.Ala283Val) SNV Uncertain Significance
1434734 GRCh37: 19:6495662-6495662
GRCh38: 19:6495651-6495651

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 6:

73
# Symbol AA change Variation ID SNP ID
1 TUBB4A p.Asp249Asn VAR_069799 rs483352809

Expression for Leukodystrophy, Hypomyelinating, 6

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 6.

Pathways for Leukodystrophy, Hypomyelinating, 6

Pathways related to Leukodystrophy, Hypomyelinating, 6 according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 TUBA1A TUBA8 TUBB2A TUBB2B TUBB4A TUBB4B
2
Show member pathways
13.22 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
3
Show member pathways
13.16 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
4
Show member pathways
13.16 TUBA1A TUBA8 TUBB2A TUBB2B TUBB4A TUBB4B
5
Show member pathways
13.07 TUBGCP6 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8
6
Show member pathways
13.06 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
7
Show member pathways
12.98 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
8
Show member pathways
12.95 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
9
Show member pathways
12.9 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
10
Show member pathways
12.76 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
11
Show member pathways
12.71 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
12
Show member pathways
12.64 TUBA1A TUBA8 TUBB2A TUBB2B TUBB4A TUBB4B
13
Show member pathways
12.6 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
14
Show member pathways
12.46 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
15
Show member pathways
12.36 TUBB4B TUBB4A TUBB2B TUBB2A TUBA1A
16
Show member pathways
12.36 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
17
Show member pathways
12.33 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
18
Show member pathways
12.28 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
19
Show member pathways
12.21 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
20
Show member pathways
12.16 TUBA1A TUBA8 TUBB2A TUBB2B TUBB4A TUBB4B
21
Show member pathways
12.07 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
22 11.9 TUBB2B TUBB2A TUBA8
23
Show member pathways
11.88 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
24
Show member pathways
11.76 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
25
Show member pathways
11.52 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
26 11.39 TUBA1A TUBB2A TUBB2B TUBB4A TUBB4B

GO Terms for Leukodystrophy, Hypomyelinating, 6

Cellular components related to Leukodystrophy, Hypomyelinating, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.93 TUBGCP6 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8
2 mitotic spindle GO:0072686 9.92 TUBB4B TUBB4A TUBB2B TUBB2A
3 intercellular bridge GO:0045171 9.86 TUBB4B TUBB4A TUBB2B TUBB2A
4 microtubule cytoskeleton GO:0015630 9.73 TUBA1A TUBA8 TUBB2A TUBB2B TUBB4A TUBB4B
5 microtubule GO:0005874 9.53 TUBGCP6 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8

Biological processes related to Leukodystrophy, Hypomyelinating, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitotic cell cycle GO:0000278 10 TUBA1A TUBA8 TUBB2A TUBB2B TUBB4A TUBB4B
2 microtubule cytoskeleton organization GO:0000226 9.77 TUBGCP6 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8
3 cytoskeleton organization GO:0007010 9.56 TUBB4A TUBB2B TUBA8 TUBA1A
4 cerebral cortex development GO:0021987 9.5 TUBB2B TUBB2A TUBA1A
5 glial cell differentiation GO:0010001 9.37 TUBA1A PLP1
6 microtubule-based process GO:0007017 9.23 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A

Molecular functions related to Leukodystrophy, Hypomyelinating, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.93 TUBB4B TUBB4A TUBB2B TUBB2A TBCC GNAL
2 nucleotide binding GO:0000166 9.8 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A
3 GTP binding GO:0005525 9.8 GNAL TUBA1A TUBA8 TUBB2A TUBB2B TUBB4A
4 structural constituent of cytoskeleton GO:0005200 9.4 TUBB4B TUBB4A TUBB2B TUBB2A TUBA8 TUBA1A

Sources for Leukodystrophy, Hypomyelinating, 6

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
Content
Loading form....