HLD6
MCID: LKD019
MIFTS: 46

Leukodystrophy, Hypomyelinating, 6 (HLD6)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 6

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 6:

Name: Leukodystrophy, Hypomyelinating, 6 57 53 74 29 6 72
Habc 57 12 53 74
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum 12 53 59
H-Abc 12 53 59
Hld6 57 12 53
Leukodystrophy, Hypomyelinating, with Atrophy of the Basal Ganglia and Cerebellum 57 53
Hypomyelinating Leukodystrophy with Atrophy of the Basal Ganglia and Cerebellum 12 74
Hypomyelinating Leukodystrophy 6 12 15
Leukodystrophy, Hypomyelinating, with Atrophy of the Basal Ganglia and Cerebellum; Habc 57
Leukodystrophy, Hypomyelinating, Type 6 40
Hld 74

Characteristics:

Orphanet epidemiological data:

59
hypomyelination with atrophy of basal ganglia and cerebellum
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
leukodystrophy, hypomyelinating, 6:
Inheritance autosomal dominant inheritance autosomal recessive inheritance sporadic
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060798
MeSH 44 D020279
ICD10 33 E75.2
ICD10 via Orphanet 34 E75.2
Orphanet 59 ORPHA139441
MedGen 42 C2676244
UMLS 72 C2676244

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)

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 Neurotransmitter Release Cycle and Phagosome. Affiliated tissues include cerebellum, brain and testes, 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.

NIH Rare Diseases : 53 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 : 74 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

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 hypomyelinating leukodystrophy 29.7 TUBB4A FAM126A
2 tubb4a-related leukodystrophy 12.2
3 leukodystrophy, hypomyelinating, 3 11.2
4 leukodystrophy, hypomyelinating, 9 11.2
5 leukodystrophy, hypomyelinating, 10 11.2
6 leukodystrophy, hypomyelinating, 11 11.2
7 leukodystrophy, hypomyelinating, 12 11.2
8 leukodystrophy, hypomyelinating, 13 11.2
9 leukodystrophy, hypomyelinating, 15 11.2
10 wilson disease 10.5
11 ataxia and polyneuropathy, adult-onset 10.4
12 aceruloplasminemia 10.4
13 polykaryocytosis inducer 10.2
14 proteasome-associated autoinflammatory syndrome 1 10.2
15 dementia 10.2
16 cleft palate, isolated 10.2
17 huntington disease-like 3 10.2
18 huntington disease-like 2 10.2
19 tubulin, beta 10.2
20 leukodystrophy 10.2
21 dystonia 10.1
22 dystonia 4, torsion, autosomal dominant 10.0
23 sturge-weber syndrome 9.9
24 leukodystrophy, hypomyelinating, 14 9.9
25 movement disease 9.9
26 cerebral folate deficiency 9.9
27 dyt-tubb4a 9.9
28 weber syndrome 9.9
29 spasticity 9.9
30 leukodystrophy, hypomyelinating, 5 9.8 TUBB4A FAM126A

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:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 hearing impairment 32 occasional (7.5%) HP:0000365
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 ataxia 32 HP:0001251
6 spasticity 32 HP:0001257
7 dysarthria 32 HP:0001260
8 tremor 32 HP:0001337
9 delayed speech and language development 32 HP:0000750
10 microcephaly 32 HP:0000252
11 visual impairment 32 HP:0000505
12 optic atrophy 32 HP:0000648
13 short stature 32 HP:0004322
14 specific learning disability 32 HP:0001328
15 dystonia 32 HP:0001332
16 motor delay 32 HP:0001270
17 rigidity 32 HP:0002063
18 choreoathetosis 32 HP:0001266
19 cerebellar atrophy 32 HP:0001272
20 leukodystrophy 32 HP:0002415
21 poor speech 32 HP:0002465
22 muscular hypotonia of the trunk 32 HP:0008936
23 cerebral hypomyelination 32 HP:0006808

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
spasticity
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

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 6:


seizures, ataxia, tremor, muscle rigidity, muscle spasticity

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 iCare-AD: A Randomized Controlled Trial to Test the Efficacy of a Mobile Health Technology Application in Reducing the Behavioral and Psychological Symptoms of Patients With Alzheimer's Dementia and the Distress of Their Informal Caregivers Not yet 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:

41
Cerebellum, Brain, Testes, Eye

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. 8 71
25772097 2015
2
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 8 71
24850488 2014
3
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. 8 71
24742798 2014
4
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. 8 71
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. 8 71
23582646 2013
6
Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. 8 71
18851904 2009
7
Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum. 8 71
16707859 2006
8
TUBB4A-Related Leukodystrophy 71
27809427 2016
9
TUBB4A de novo mutations cause isolated hypomyelination. 8
25085639 2014
10
Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. 71
18466252 2008
11
Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. 8
17620549 2007
12
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case. 8
15944912 2005
13
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. 8
12372733 2002
14
Mutations in the Caenorhabditis elegans beta-tubulin gene mec-7: effects on microtubule assembly and stability and on tubulin autoregulation. 71
7983175 1994
15
A set of autosomal multiple InDel markers for forensic application and population genetic analysis in the Chinese Xinjiang Hui group. 38
29602069 2018
16
Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties. 38
28275661 2017

Variations for Leukodystrophy, Hypomyelinating, 6

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 6:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TUBB4A NM_001289123.1(TUBB4A): c.157C> G (p.Arg53Gly) single nucleotide variant Pathogenic rs587776983 19:6502220-6502220 19:6502209-6502209
2 TUBB4A NM_001289123.1(TUBB4A): c.898G> A (p.Asp300Asn) single nucleotide variant Pathogenic rs483352809 19:6495765-6495765 19:6495754-6495754
3 TUBB4A NM_001289123.1(TUBB4A): c.1381G> A (p.Glu461Lys) single nucleotide variant Pathogenic rs587777428 19:6495282-6495282 19:6495271-6495271
4 TUBB4A NM_001289123.1(TUBB4A): c.620G> T (p.Arg207Leu) single nucleotide variant Pathogenic rs587777429 19:6496043-6496043 19:6496032-6496032
5 TUBB4A NM_001289123.1(TUBB4A): c.158G> A (p.Arg53Gln) single nucleotide variant Pathogenic rs587777467 19:6502219-6502219 19:6502208-6502208
6 TUBB4A NM_001289123.1(TUBB4A): c.686C> G (p.Thr229Arg) single nucleotide variant Pathogenic rs587777468 19:6495977-6495977 19:6495966-6495966
7 TUBB4A NM_001289123.1(TUBB4A): c.721C> T (p.His241Tyr) single nucleotide variant Pathogenic rs761635539 19:6495942-6495942 19:6495931-6495931
8 TUBB4A NM_001289123.1(TUBB4A): c.1325G> T (p.Arg442Leu) single nucleotide variant Pathogenic rs886041021 19:6495338-6495338 19:6495327-6495327
9 TUBB4A NM_001289123.1(TUBB4A): c.938G> A (p.Arg313His) single nucleotide variant Pathogenic rs886039470 19:6495725-6495725 19:6495714-6495714
10 TUBB4A NM_001289123.1(TUBB4A): c.1334T> G (p.Phe445Cys) single nucleotide variant Pathogenic rs886041022 19:6495329-6495329 19:6495318-6495318
11 TUBB4A NM_001289123.1(TUBB4A): c.1325G> A (p.Arg442His) single nucleotide variant Pathogenic rs886041021 19:6495338-6495338 19:6495327-6495327
12 TUBB4A NM_001289123.1(TUBB4A): c.1317G> A (p.Met439Ile) single nucleotide variant Pathogenic rs797045074 19:6495346-6495346 19:6495335-6495335
13 TUBB4A NM_001289123.1(TUBB4A): c.1316T> C (p.Met439Thr) single nucleotide variant Pathogenic rs886041020 19:6495347-6495347 19:6495336-6495336
14 TUBB4A NM_001289123.1(TUBB4A): c.1252T> C (p.Phe418Leu) single nucleotide variant Pathogenic rs886041018 19:6495411-6495411 19:6495400-6495400
15 TUBB4A NM_001289123.1(TUBB4A): c.1252T> A (p.Phe418Ile) single nucleotide variant Pathogenic rs886041018 19:6495411-6495411 19:6495400-6495400
16 TUBB4A NM_001289123.1(TUBB4A): c.1244C> A (p.Ala415Asp) single nucleotide variant Pathogenic rs886041017 19:6495419-6495419 19:6495408-6495408
17 TUBB4A NM_001289123.1(TUBB4A): c.1214G> A (p.Cys405Tyr) single nucleotide variant Pathogenic rs886041016 19:6495449-6495449 19:6495438-6495438
18 TUBB4A NM_001289123.1(TUBB4A): c.1207G> A (p.Ala403Thr) single nucleotide variant Pathogenic rs886041015 19:6495456-6495456 19:6495445-6495445
19 TUBB4A NM_001289123.1(TUBB4A): c.1121T> G (p.Met374Arg) single nucleotide variant Pathogenic rs886041014 19:6495542-6495542 19:6495531-6495531
20 TUBB4A NM_001289123.1(TUBB4A): c.1053G> T (p.Met351Ile) single nucleotide variant Pathogenic rs886041012 19:6495610-6495610 19:6495599-6495599
21 TUBB4A NM_001289123.1(TUBB4A): c.1027C> A (p.Gln343Lys) single nucleotide variant Pathogenic rs886041011 19:6495636-6495636 19:6495625-6495625
22 TUBB4A NM_001289123.1(TUBB4A): c.998G> C (p.Arg333Pro) single nucleotide variant Pathogenic rs756762431 19:6495665-6495665 19:6495654-6495654
23 TUBB4A NM_001289123.1(TUBB4A): c.884G> T (p.Gly295Val) single nucleotide variant Pathogenic rs886041010 19:6495779-6495779 19:6495768-6495768
24 TUBB4A NM_001289123.1(TUBB4A): c.884G> A (p.Gly295Asp) single nucleotide variant Pathogenic rs886041010 19:6495779-6495779 19:6495768-6495768
25 TUBB4A NM_001289123.1(TUBB4A): c.883G> A (p.Gly295Ser) single nucleotide variant Pathogenic rs886041007 19:6495780-6495780 19:6495769-6495769
26 TUBB4A NM_001289123.1(TUBB4A): c.869G> T (p.Cys290Phe) single nucleotide variant Pathogenic rs886041009 19:6495794-6495794 19:6495783-6495783
27 TUBB4A NM_001289123.1(TUBB4A): c.697C> A (p.Pro233Thr) single nucleotide variant Pathogenic rs886041008 19:6495966-6495966 19:6495955-6495955
28 TUBB4A NM_001289123.1(TUBB4A): c.686C> T (p.Thr229Met) single nucleotide variant Pathogenic rs587777468 19:6495977-6495977 19:6495966-6495966
29 TUBB4A NM_001289123.1(TUBB4A): c.157C> T (p.Arg53Trp) single nucleotide variant Pathogenic rs587776983 19:6502220-6502220 19:6502209-6502209
30 TUBB4A NM_006087.3: c.900C> A single nucleotide variant Pathogenic
31 TUBB4A NM_001289123.1(TUBB4A): c.916G> A (p.Val306Ile) single nucleotide variant Pathogenic/Likely pathogenic rs767399782 19:6495747-6495747 19:6495736-6495736
32 TUBB4A NM_001289123.1(TUBB4A): c.1215C> G (p.Cys405Trp) single nucleotide variant Likely pathogenic rs748787734 19:6495448-6495448 19:6495437-6495437
33 TUBB4A NM_001289123.1(TUBB4A): c.1094C> T (p.Ala365Val) single nucleotide variant Likely pathogenic rs886041013 19:6495569-6495569 19:6495558-6495558
34 TUBB4A NM_001289123.1(TUBB4A): c.1315A> G (p.Met439Val) single nucleotide variant Likely pathogenic rs886041019 19:6495348-6495348 19:6495337-6495337
35 TUBB4A NM_001289123.1(TUBB4A): c.1317G> C (p.Met439Ile) single nucleotide variant Likely pathogenic rs797045074 19:6495346-6495346 19:6495335-6495335
36 TUBB4A NM_001289123.1(TUBB4A): c.1068G> A (p.Pro356=) single nucleotide variant Conflicting interpretations of pathogenicity rs149903666 19:6495595-6495595 19:6495584-6495584
37 TUBB4A NM_001289123.1(TUBB4A): c.1469C> A (p.Ala490Glu) single nucleotide variant Uncertain significance rs199569370 19:6495194-6495194 19:6495183-6495183
38 TUBB4A NM_001289123.1(TUBB4A): c.922A> T (p.Met308Leu) single nucleotide variant Uncertain significance rs1555754019 19:6495741-6495741 19:6495730-6495730
39 TUBB4A NM_001289123.1(TUBB4A): c.*440C> T single nucleotide variant Uncertain significance rs886054651 19:6494735-6494735 19:6494724-6494724
40 TUBB4A NM_001289123.1(TUBB4A): c.839T> C (p.Val280Ala) single nucleotide variant Uncertain significance 19:6495824-6495824 19:6495813-6495813
41 TUBB4A NM_001289123.1(TUBB4A): c.826C> T (p.Leu276Phe) single nucleotide variant Uncertain significance 19:6495837-6495837 19:6495826-6495826
42 TUBB4A NM_001289123.1(TUBB4A): c.1469C> T (p.Ala490Val) single nucleotide variant Uncertain significance 19:6495194-6495194 19:6495183-6495183
43 TUBB4A NM_001289123.1(TUBB4A): c.856G> A (p.Gly286Arg) single nucleotide variant Uncertain significance 19:6495807-6495807 19:6495796-6495796
44 TUBB4A NM_001289123.1(TUBB4A): c.429T> C (p.Phe143=) single nucleotide variant Uncertain significance 19:6501299-6501299 19:6501288-6501288
45 TUBB4A NM_001289123.1(TUBB4A): c.*429C> T single nucleotide variant Likely benign rs567346964 19:6494746-6494746 19:6494735-6494735
46 TUBB4A NM_001289123.1(TUBB4A): c.363C> T (p.Pro121=) single nucleotide variant Likely benign rs557747150 19:6501365-6501365 19:6501354-6501354
47 TUBB4A NM_001289123.1(TUBB4A): c.92C> T (p.Ala31Val) single nucleotide variant Likely benign rs774284850 19:6502285-6502285 19:6502274-6502274
48 TUBB4A NM_001289123.1(TUBB4A): c.*493C> G single nucleotide variant Likely benign rs111966371 19:6494682-6494682 19:6494671-6494671
49 TUBB4A NM_001289123.1(TUBB4A): c.*53G> A single nucleotide variant Likely benign rs113953942 19:6495122-6495122 19:6495111-6495111
50 TUBB4A NM_001289123.1(TUBB4A): c.1248G> A (p.Ala416=) single nucleotide variant Likely benign rs148507956 19:6495415-6495415 19:6495404-6495404

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

74
# 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

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 endosome GO:0005768 9.46 VPS53 VPS16 UHRF1BP1L STX7
2 early endosome GO:0005769 9.43 VPS16 UHRF1BP1L STX7
3 SNARE complex GO:0031201 9.32 STX7 STX1A
4 recycling endosome GO:0055037 9.13 VPS53 VPS16 STX7
5 presynaptic active zone membrane GO:0048787 8.62 STXBP1 STX1A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.7 STXBP1 STX7 STX1A
2 exocytosis GO:0006887 9.58 UNC13B STXBP1 STX1A
3 microtubule-based process GO:0007017 9.51 TUBB4A TUBA8
4 vesicle fusion GO:0006906 9.49 STX7 STX1A
5 vesicle docking GO:0048278 9.48 STX7 STX1A
6 positive regulation of exocytosis GO:0045921 9.46 STXBP1 STX1A
7 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.43 STXBP1 STX1A
8 synaptic vesicle priming GO:0016082 9.37 UNC13B STXBP1
9 synaptic vesicle docking GO:0016081 9.32 UNC13B STX1A
10 synaptic vesicle maturation GO:0016188 9.26 UNC13B STXBP1
11 regulation of SNARE complex assembly GO:0035542 9.16 VPS16 STXBP1
12 regulation of synaptic vesicle priming GO:0010807 8.96 STXBP1 STX1A
13 presynaptic dense core vesicle exocytosis GO:0099525 8.62 UNC13B STXBP1

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

# Name GO ID Score Top Affiliating Genes
1 syntaxin binding GO:0019905 9.32 STXBP1 STX7
2 SNAP receptor activity GO:0005484 9.26 STX7 STX1A
3 syntaxin-1 binding GO:0017075 9.16 UNC13B STXBP1
4 chloride channel inhibitor activity GO:0019869 8.96 STX7 STX1A
5 SNARE binding GO:0000149 8.8 STXBP1 STX7 STX1A

Sources for Leukodystrophy, Hypomyelinating, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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