HLD6
MCID: LKD019
MIFTS: 52

Leukodystrophy, Hypomyelinating, 6 (HLD6)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 6

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 6:

Name: Leukodystrophy, Hypomyelinating, 6 57 20 73 29 6 71
Habc 57 12 20 73
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum 12 20 58
H-Abc 12 20 58
Hld6 57 12 20
Leukodystrophy, Hypomyelinating, with Atrophy of the Basal Ganglia and Cerebellum 57 20
Hypomyelinating Leukodystrophy with Atrophy of the Basal Ganglia and Cerebellum 12 73
Hypomyelinating Leukodystrophy 6 12 15
Leukodystrophy, Hypomyelinating, with Atrophy of the Basal Ganglia and Cerebellum; Habc 57
Leukodystrophy, Hypomyelinating, Type 6 39
Hld 73

Characteristics:

Orphanet epidemiological data:

58
hypomyelination with atrophy of basal ganglia and cerebellum
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

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:

31
leukodystrophy, hypomyelinating, 6:
Inheritance autosomal dominant inheritance sporadic
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 05-Mar-2021)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 6, also known as habc, is related to hypomyelinating leukodystrophy and tubb4a-related leukodystrophy, and has symptoms including seizures, ataxia and tremor. An important gene associated with Leukodystrophy, Hypomyelinating, 6 is TUBB4A (Tubulin Beta 4A Class IVa), and among its related pathways/superpathways are Vesicle-mediated transport and Transmission across Chemical Synapses. Affiliated tissues include cerebellum, eye and brain, and related phenotypes are nystagmus and hearing impairment

Disease Ontology : 12 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.

GARD : 20 Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and worsen over time. Severity of symptoms and rate of progression can vary. 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 mutation in the TUBB4A gene. Inheritance is autosomal dominant, but most cases are due to a new mutation occurring for the first time in a person with the condition. Treatment may involve taking medications to ease symptoms, physical therapy, and surgery when dystonia does not improve with medication.

UniProtKB/Swiss-Prot : 73 Leukodystrophy, hypomyelinating, 6: 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.

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

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 hypomyelinating leukodystrophy 29.2 YKT6 VTI1B VPS45 VAMP2 UNC13B TUBB4A
2 tubb4a-related leukodystrophy 11.4
3 leukodystrophy, hypomyelinating, 3 10.9
4 leukodystrophy, hypomyelinating, 9 10.9
5 leukodystrophy, hypomyelinating, 10 10.9
6 leukodystrophy, hypomyelinating, 11 10.9
7 leukodystrophy, hypomyelinating, 12 10.9
8 leukodystrophy, hypomyelinating, 13 10.9
9 leukodystrophy, hypomyelinating, 15 10.9
10 leukodystrophy, hypomyelinating, 19, transient infantile 10.9
11 leukodystrophy, hypomyelinating, 20 10.9
12 mild cognitive impairment 10.4
13 infant botulism 10.2 YKT6 VAMP4 VAMP2
14 dystonia 10.2
15 cerebral degeneration 10.2 STXBP1 STX1A NAPA
16 wilson disease 10.2
17 foodborne botulism 10.1 VAMP4 VAMP2 SNAP25
18 kagami-ogata syndrome 10.1 VAMP2 UNC13B UNC13A
19 dystonia 4, torsion, autosomal dominant 10.1
20 ataxia and polyneuropathy, adult-onset 10.1
21 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.1 STX6 SNAP23
22 hermansky-pudlak syndrome 10.0 VTI1B VPS45 VAMP7 SNAP23
23 tubulinopathies 10.0
24 spasticity 10.0
25 tremor 10.0
26 myasthenic syndrome, congenital, 19 10.0 UNC13A SNAP25
27 cleft palate, isolated 9.9
28 polykaryocytosis inducer 9.9
29 proteasome-associated autoinflammatory syndrome 1 9.9
30 tubulin, beta 9.9
31 aging 9.9
32 huntington disease-like 3 9.9
33 huntington disease-like 2 9.9
34 leukodystrophy 9.9
35 dementia 9.9
36 sturge-weber syndrome 9.8
37 leukodystrophy, hypomyelinating, 14 9.8
38 movement disease 9.8
39 weber syndrome 9.8
40 encephalopathy 9.8
41 hemophagocytic lymphohistiocytosis, familial, 4 9.8 VTI1B VAMP7 VAMP4 UNC13B STX4 STX3
42 tetanus 9.8 VTI1B VAMP7 VAMP2 STX3 SNAP25 SNAP23

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:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 hearing impairment 31 occasional (7.5%) HP:0000365
3 intellectual disability 31 HP:0001249
4 spasticity 31 HP:0001257
5 ataxia 31 HP:0001251
6 dysarthria 31 HP:0001260
7 tremor 31 HP:0001337
8 delayed speech and language development 31 HP:0000750
9 microcephaly 31 HP:0000252
10 visual impairment 31 HP:0000505
11 optic atrophy 31 HP:0000648
12 short stature 31 HP:0004322
13 specific learning disability 31 HP:0001328
14 motor delay 31 HP:0001270
15 dystonia 31 HP:0001332
16 leukodystrophy 31 HP:0002415
17 cerebellar atrophy 31 HP:0001272
18 rigidity 31 HP:0002063
19 choreoathetosis 31 HP:0001266
20 muscular hypotonia of the trunk 31 HP:0008936
21 poor speech 31 HP:0002465
22 cerebral hypomyelination 31 HP:0006808
23 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
ataxia
dysarthria
tremor
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 05-Mar-2021)

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 6:


seizures, ataxia, tremor, muscle rigidity, muscle spasticity

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.86 NAPA SCFD1 SNAP23 SNAP25 STX1A STX3
2 nervous system MP:0003631 9.4 NAPA SNAP25 STX1A STX5 STXBP1 TUBB4A

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Technology Intervention to Support Caregiving for Alzheimer's Disease (I-CARE) Recruiting NCT03119259

Search 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 Leukodystrophy, Hypomyelinating, 6 29 TUBB4A

Anatomical Context for Leukodystrophy, Hypomyelinating, 6

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 6:

40
Cerebellum, Eye, Brain

Publications for Leukodystrophy, Hypomyelinating, 6

Articles related to Leukodystrophy, Hypomyelinating, 6:

(show all 16)
# Title Authors PMID Year
1
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. 6 57
25772097 2015
2
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 6 57
24850488 2014
3
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. 57 6
24742798 2014
4
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. 6 57
24526230 2014
5
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. 57 6
23582646 2013
6
Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. 57 6
18851904 2009
7
Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum. 6 57
16707859 2006
8
TUBB4A de novo mutations cause isolated hypomyelination. 57
25085639 2014
9
Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. 6
18466252 2008
10
Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. 57
17620549 2007
11
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case. 57
15944912 2005
12
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. 57
12372733 2002
13
Mutations in the Caenorhabditis elegans beta-tubulin gene mec-7: effects on microtubule assembly and stability and on tubulin autoregulation. 6
7983175 1994
14
Forensic applicability of autosomal insertion/deletion loci in Chinese Daur ethnic group and genetic affinity evaluations between Daur group and reference populations. 61
32682294 2020
15
A set of autosomal multiple InDel markers for forensic application and population genetic analysis in the Chinese Xinjiang Hui group. 61
29602069 2018
16
Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties. 61
28275661 2017

Variations for Leukodystrophy, Hypomyelinating, 6

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 6:

6 (show top 50) (show all 100)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TUBB4A NM_006087.4(TUBB4A):c.1099T>C (p.Phe367Leu) SNV Pathogenic 267789 rs886041018 19:6495411-6495411 19:6495400-6495400
2 TUBB4A NM_006087.4(TUBB4A):c.544C>A (p.Pro182Thr) SNV Pathogenic 267775 rs886041008 19:6495966-6495966 19:6495955-6495955
3 TUBB4A NM_006087.4(TUBB4A):c.731G>T (p.Gly244Val) SNV Pathogenic 267777 rs886041010 19:6495779-6495779 19:6495768-6495768
4 TUBB4A NM_006087.4(TUBB4A):c.845G>C (p.Arg282Pro) SNV Pathogenic 267779 rs756762431 19:6495665-6495665 19:6495654-6495654
5 TUBB4A NM_006087.4(TUBB4A):c.4C>T (p.Arg2Trp) SNV Pathogenic 267773 rs587776983 19:6502220-6502220 19:6502209-6502209
6 TUBB4A NM_006087.4(TUBB4A):c.968T>G (p.Met323Arg) SNV Pathogenic 267784 rs886041014 19:6495542-6495542 19:6495531-6495531
7 TUBB4A NM_006087.4(TUBB4A):c.1162A>G (p.Met388Val) SNV Pathogenic 267790 rs886041019 19:6495348-6495348 19:6495337-6495337
8 TUBB4A NM_006087.4(TUBB4A):c.1091C>A (p.Ala364Asp) SNV Pathogenic 267787 rs886041017 19:6495419-6495419 19:6495408-6495408
9 TUBB4A NM_006087.4(TUBB4A):c.731G>A (p.Gly244Asp) SNV Pathogenic 267778 rs886041010 19:6495779-6495779 19:6495768-6495768
10 TUBB4A NM_006087.4(TUBB4A):c.1054G>A (p.Ala352Thr) SNV Pathogenic 267785 rs886041015 19:6495456-6495456 19:6495445-6495445
11 TUBB4A NM_006087.4(TUBB4A):c.900G>T (p.Met300Ile) SNV Pathogenic 267782 rs886041012 19:6495610-6495610 19:6495599-6495599
12 TUBB4A NM_006087.4(TUBB4A):c.874C>A (p.Gln292Lys) SNV Pathogenic 267780 rs886041011 19:6495636-6495636 19:6495625-6495625
13 TUBB4A NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met) SNV Pathogenic 267774 rs587777468 19:6495977-6495977 19:6495966-6495966
14 TUBB4A NM_006087.4(TUBB4A):c.1099T>A (p.Phe367Ile) SNV Pathogenic 267788 rs886041018 19:6495411-6495411 19:6495400-6495400
15 TUBB4A NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr) SNV Pathogenic 267791 rs886041020 19:6495347-6495347 19:6495336-6495336
16 TUBB4A NM_006087.4(TUBB4A):c.1181T>G (p.Phe394Cys) SNV Pathogenic 267794 rs886041022 19:6495329-6495329 19:6495318-6495318
17 TUBB4A NM_006087.4(TUBB4A):c.716G>T (p.Cys239Phe) SNV Pathogenic 267776 rs886041009 19:6495794-6495794 19:6495783-6495783
18 TUBB4A NM_006087.3:c.900C>A SNV Pathogenic 267781
19 TUBB4A NM_006087.4(TUBB4A):c.1061G>A (p.Cys354Tyr) SNV Pathogenic 267786 rs886041016 19:6495449-6495449 19:6495438-6495438
20 TUBB4A NM_006087.4(TUBB4A):c.1172G>T (p.Arg391Leu) SNV Pathogenic 419697 rs886041021 19:6495338-6495338 19:6495327-6495327
21 TUBB4A NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr) SNV Pathogenic 192383 rs761635539 19:6495942-6495942 19:6495931-6495931
22 TUBB4A NM_006087.4(TUBB4A):c.730G>C (p.Gly244Arg) SNV Pathogenic 803516 rs886041007 19:6495780-6495780 19:6495769-6495769
23 TUBB4A NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile) SNV Pathogenic 267792 rs797045074 19:6495346-6495346 19:6495335-6495335
24 TUBB4A NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His) SNV Pathogenic 267793 rs886041021 19:6495338-6495338 19:6495327-6495327
25 TUBB4A NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) SNV Pathogenic 50985 rs483352809 19:6495765-6495765 19:6495754-6495754
26 TUBB4A NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) SNV Pathogenic 135658 rs587777428 19:6495282-6495282 19:6495271-6495271
27 TUBB4A NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu) SNV Pathogenic 135659 rs587777429 19:6496043-6496043 19:6496032-6496032
28 TUBB4A NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln) SNV Pathogenic 139452 rs587777467 19:6502219-6502219 19:6502208-6502208
29 TUBB4A NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg) SNV Pathogenic 139453 rs587777468 19:6495977-6495977 19:6495966-6495966
30 TUBB4A NM_006087.4(TUBB4A):c.4C>G (p.Arg2Gly) SNV Pathogenic 50984 rs587776983 19:6502220-6502220 19:6502209-6502209
31 TUBB4A NM_006087.4(TUBB4A):c.785G>A (p.Arg262His) SNV Pathogenic 265314 rs886039470 19:6495725-6495725 19:6495714-6495714
32 TUBB4A NM_006087.4(TUBB4A):c.941C>T (p.Ala314Val) SNV Pathogenic 267783 rs886041013 19:6495569-6495569 19:6495558-6495558
33 TUBB4A NM_006087.4(TUBB4A):c.730G>A (p.Gly244Ser) SNV Pathogenic 267772 rs886041007 19:6495780-6495780 19:6495769-6495769
34 TUBB4A NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) SNV Pathogenic 135658 rs587777428 19:6495282-6495282 19:6495271-6495271
35 TUBB4A NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) SNV Pathogenic 50985 rs483352809 19:6495765-6495765 19:6495754-6495754
36 TUBB4A NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) SNV Pathogenic/Likely pathogenic 217025 rs767399782 19:6495747-6495747 19:6495736-6495736
37 TUBB4A NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp) SNV Likely pathogenic 453295 rs748787734 19:6495448-6495448 19:6495437-6495437
38 TUBB4A NM_006087.4(TUBB4A):c.1021T>C (p.Phe341Leu) SNV Likely pathogenic 930298 19:6495489-6495489 19:6495478-6495478
39 TUBB4A NM_006087.4(TUBB4A):c.1065C>A (p.Asp355Glu) SNV Likely pathogenic 807518 rs1599405952 19:6495445-6495445 19:6495434-6495434
40 TUBB4A NM_006087.4(TUBB4A):c.1054G>T (p.Ala352Ser) SNV Likely pathogenic 807519 rs886041015 19:6495456-6495456 19:6495445-6495445
41 TUBB4A NM_006087.4(TUBB4A):c.686T>C (p.Val229Ala) SNV Likely pathogenic 580978 rs1568409626 19:6495824-6495824 19:6495813-6495813
42 TUBB4A NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile) SNV Likely pathogenic 209201 rs797045074 19:6495346-6495346 19:6495335-6495335
43 TUBB4A NM_006087.4(TUBB4A):c.1181T>C (p.Phe394Ser) SNV Likely pathogenic 689794 rs886041022 19:6495329-6495329 19:6495318-6495318
44 TUBB4A NM_006087.4(TUBB4A):c.*627A>C SNV Uncertain significance 894560 19:6494548-6494548 19:6494537-6494537
45 TUBB4A NM_006087.4(TUBB4A):c.*579C>T SNV Uncertain significance 894561 19:6494596-6494596 19:6494585-6494585
46 TUBB4A NM_006087.4(TUBB4A):c.167-12G>C SNV Uncertain significance 894619 19:6501420-6501420 19:6501409-6501409
47 TUBB4A NM_006087.4(TUBB4A):c.703G>A (p.Gly235Arg) SNV Uncertain significance 643798 rs1171027384 19:6495807-6495807 19:6495796-6495796
48 TUBB4A NM_006087.4(TUBB4A):c.1316C>T (p.Ala439Val) SNV Uncertain significance 656505 rs199569370 19:6495194-6495194 19:6495183-6495183
49 TUBB4A NM_006087.4(TUBB4A):c.630C>T (p.Ile210=) SNV Uncertain significance 894214 19:6495880-6495880 19:6495869-6495869
50 TUBB4A NM_006087.4(TUBB4A):c.*304C>T SNV Uncertain significance 893139 19:6494871-6494871 19:6494860-6494860

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 YKT6 VPS45 VAMP7 VAMP4 VAMP2 STX6
2
Show member pathways
12.83 VAMP2 UNC13B STXBP1 STX1A SNAP25
3
Show member pathways
12.77 VAMP2 STX5 STX4 STX3 STX1A SNAP25
4
Show member pathways
12.55 YKT6 VPS45 VAMP4 STX6 STX5 NAPA
5 12.41 VAMP2 STXBP1 STX1A SNAP25
6
Show member pathways
12.37 VAMP2 STXBP1 STX4 SNAP25 SNAP23
7
Show member pathways
12.25 VAMP7 VAMP2 STX4 SNAP23 NAPA
8
Show member pathways
12.22 VAMP2 STXBP1 STX1A SNAP25
9
Show member pathways
12.12 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2
10
Show member pathways
12.05 TUBB4A STXBP1 STX1A SNAP23
11
Show member pathways
12.03 VAMP2 UNC13B STXBP1 STX1A SNAP25
12
Show member pathways
11.87 VAMP2 UNC13B UNC13A STXBP1 STX3 STX1A
13
Show member pathways
11.64 VAMP2 STX1A SNAP25
14 11.52 VAMP2 STX4 SNAP23
15
Show member pathways
11.41 YKT6 VTI1B VAMP7 VAMP4 VAMP2 STX6
16 11.4 VAMP4 STX6 NAPA
17 11.37 YKT6 VPS45 STX6 STX5 NAPA
18
Show member pathways
11.28 VPS45 VAMP2 SNAP25
19 10.61 VAMP2 UNC13B STXBP1 STX1A SNAP25

GO Terms for Leukodystrophy, Hypomyelinating, 6

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.48 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2
2 membrane GO:0016020 10.48 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2
3 cytosol GO:0005829 10.46 YKT6 VTI1B VAMP2 UNC13B TUBB4A STXBP1
4 plasma membrane GO:0005886 10.46 VAMP7 VAMP4 VAMP2 UNC13B UNC13A STXBP1
5 Golgi apparatus GO:0005794 10.22 YKT6 VTI1B VPS45 VAMP7 VAMP4 UNC13B
6 cell junction GO:0030054 10.17 VAMP7 VAMP2 UNC13B UNC13A STX1A SNAP25
7 perinuclear region of cytoplasm GO:0048471 10.15 VTI1B VAMP7 VAMP2 STXBP1 STX6 STX4
8 Golgi membrane GO:0000139 10.14 YKT6 VPS45 VAMP4 STX6 STX5 SCFD1
9 endosome GO:0005768 10.11 YKT6 VTI1B VPS45 VAMP7 VAMP4 STX4
10 synapse GO:0045202 10.1 VAMP7 VAMP2 UNC13B UNC13A STX4 STX1A
11 glutamatergic synapse GO:0098978 10.02 STXBP1 STX4 STX3 STX1A SNAP25 NAPA
12 neuron projection GO:0043005 10 VAMP7 VAMP2 UNC13A STX3 STX1A SNAP25
13 presynapse GO:0098793 9.96 UNC13A STXBP1 STX3 SNAP23 NAPA
14 vesicle GO:0031982 9.93 VTI1B VAMP2 STX5 SNAP25
15 endomembrane system GO:0012505 9.93 STX6 STX5 STX4 STX3 STX1A
16 synaptic vesicle membrane GO:0030672 9.9 VAMP2 UNC13B UNC13A STX1A
17 phagocytic vesicle GO:0045335 9.88 VAMP7 STXBP1 STX6 STX4
18 presynaptic membrane GO:0042734 9.88 UNC13B UNC13A STX1A SNAP25
19 postsynapse GO:0098794 9.88 STXBP1 STX4 STX3 SNAP25 NAPA
20 voltage-gated potassium channel complex GO:0008076 9.84 VAMP2 STX1A SNAP25
21 secretory granule GO:0030141 9.83 VAMP7 VAMP2 STXBP1 STX3 STX1A
22 phagocytic vesicle membrane GO:0030670 9.82 VAMP7 STX4 SNAP23
23 clathrin-coated vesicle membrane GO:0030665 9.81 VAMP7 VAMP4 VAMP2
24 trans-Golgi network GO:0005802 9.73 VAMP7 VAMP4 VAMP2 STX6 STX4 SNAP25
25 integral component of synaptic vesicle membrane GO:0030285 9.71 VAMP7 VAMP4 STX6 STX1A
26 specific granule GO:0042581 9.69 STX4 STX3 SNAP23
27 somatodendritic compartment GO:0036477 9.67 STX4 SNAP25
28 platelet alpha granule GO:0031091 9.67 VAMP7 STXBP1
29 presynaptic active zone cytoplasmic component GO:0098831 9.66 UNC13B UNC13A
30 azurophil granule GO:0042582 9.65 STX3 SNAP23
31 zymogen granule membrane GO:0042589 9.65 VAMP2 STX3
32 synaptic vesicle GO:0008021 9.65 VTI1B VPS45 VAMP7 VAMP4 VAMP2 STX6
33 synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex GO:0070033 9.62 VAMP2 STX1A
34 synaptobrevin 2-SNAP-25-syntaxin-1a complex GO:0070044 9.54 VAMP2 STX1A NAPA
35 synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex GO:0070032 9.5 VAMP2 STX1A SNAP25
36 presynaptic active zone membrane GO:0048787 9.46 STXBP1 STX4 STX3 STX1A
37 SNARE complex GO:0031201 9.44 YKT6 VTI1B VAMP7 VAMP4 VAMP2 STX6

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.22 YKT6 VTI1B VPS45 VAMP7 VAMP2 STXBP1
2 ER to Golgi vesicle-mediated transport GO:0006888 10.1 YKT6 VTI1B VAMP7 VAMP4 STX5 SCFD1
3 intracellular protein transport GO:0006886 10.02 VTI1B VPS45 STXBP1 STX6 STX5 STX4
4 vesicle docking involved in exocytosis GO:0006904 9.95 YKT6 VTI1B VPS45 STXBP1 SCFD1
5 neurotransmitter secretion GO:0007269 9.95 VAMP2 UNC13B UNC13A STXBP1 STX1A SNAP25
6 glutamate secretion GO:0014047 9.93 VAMP2 UNC13B STXBP1 STX1A SNAP25
7 membrane fusion GO:0061025 9.93 YKT6 VTI1B VAMP2 STX3 SNAP23 NAPA
8 retrograde transport, endosome to Golgi GO:0042147 9.91 YKT6 VTI1B STX6 STX5
9 vesicle docking GO:0048278 9.91 STX6 STX5 STX4 STX3 STX1A
10 long-term synaptic potentiation GO:0060291 9.89 VAMP2 STX4 STX3 SNAP25
11 post-Golgi vesicle-mediated transport GO:0006892 9.89 VAMP7 VAMP2 STX4 SNAP23 SCFD1
12 membrane organization GO:0061024 9.86 VAMP7 VAMP4 VAMP2
13 COPII vesicle coating GO:0048208 9.84 STX5 SCFD1 NAPA
14 neurotransmitter transport GO:0006836 9.83 STX4 STX3 STX1A
15 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.83 STX4 STX3 STX1A SNAP25 SNAP23
16 regulation of exocytosis GO:0017157 9.82 VAMP2 STX4 STX1A
17 vesicle fusion GO:0006906 9.81 VAMP7 VAMP2 STX6 STX5 STX4 STX3
18 calcium ion regulated exocytosis GO:0017156 9.8 VAMP7 VAMP2 STX1A
19 synaptic transmission, glutamatergic GO:0035249 9.8 UNC13B UNC13A NAPA
20 SNARE complex assembly GO:0035493 9.8 VAMP4 VAMP2 STXBP1 STX4 STX1A
21 synaptic vesicle exocytosis GO:0016079 9.79 VAMP2 STX1A SNAP25
22 synaptic vesicle maturation GO:0016188 9.77 UNC13B UNC13A STXBP1
23 synaptic vesicle docking GO:0016081 9.77 UNC13B UNC13A STX3 STX1A SNAP25
24 vesicle fusion with Golgi apparatus GO:0048280 9.76 VTI1B VAMP7 STX5
25 regulation of synaptic vesicle priming GO:0010807 9.75 STXBP1 STX1A NAPA
26 presynaptic dense core vesicle exocytosis GO:0099525 9.74 UNC13B UNC13A STXBP1
27 synaptic vesicle priming GO:0016082 9.73 UNC13B UNC13A STXBP1 SNAP25 SNAP23 NAPA
28 positive regulation of exocytosis GO:0045921 9.68 STXBP1 STX1A
29 positive regulation of chemotaxis GO:0050921 9.68 STX4 STX3
30 positive regulation of protein localization to cell surface GO:2000010 9.68 STX4 STX3
31 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.67 STXBP1 STX1A
32 Golgi ribbon formation GO:0090161 9.67 VAMP4 STX6
33 vesicle targeting GO:0006903 9.67 YKT6 SNAP23
34 natural killer cell degranulation GO:0043320 9.66 VAMP7 VAMP2
35 exocytic insertion of neurotransmitter receptor to postsynaptic membrane GO:0098967 9.65 STX3 SNAP25
36 eosinophil degranulation GO:0043308 9.65 VAMP7 VAMP2
37 exocytosis GO:0006887 9.65 VAMP7 VAMP2 UNC13B UNC13A STXBP1 STX4
38 dense core granule priming GO:0061789 9.64 UNC13B UNC13A
39 synaptic vesicle to endosome fusion GO:0016189 9.63 VAMP4 STX6
40 neuronal dense core vesicle exocytosis GO:0099011 9.62 UNC13B UNC13A
41 vesicle-mediated transport GO:0016192 9.47 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.41 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2
2 syntaxin binding GO:0019905 9.76 VAMP7 VAMP2 STXBP1 STX6 SNAP25 SNAP23
3 SNAP receptor activity GO:0005484 9.7 YKT6 VTI1B VAMP7 VAMP2 STX6 STX5
4 phospholipid binding GO:0005543 9.65 VAMP2 UNC13B UNC13A
5 syntaxin-1 binding GO:0017075 9.65 VAMP2 UNC13B UNC13A STXBP1 SNAP25
6 protein N-terminus binding GO:0047485 9.62 STXBP1 STX5 STX1A SCFD1
7 calcium-dependent protein binding GO:0048306 9.58 VAMP2 STX1A SNAP25
8 diacylglycerol binding GO:0019992 9.46 UNC13B UNC13A
9 chloride channel inhibitor activity GO:0019869 9.37 VTI1B STX1A
10 SNARE binding GO:0000149 9.36 VTI1B VAMP7 VAMP2 STXBP1 STX6 STX5

Sources for Leukodystrophy, Hypomyelinating, 6

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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