HLD6
MCID: LKD019
MIFTS: 51

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 56 52 73 29 6 71
Habc 56 12 52 73
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum 12 52 58
H-Abc 12 52 58
Hld6 56 12 52
Leukodystrophy, Hypomyelinating, with Atrophy of the Basal Ganglia and Cerebellum 56 52
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 56
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:

56
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 autosomal recessive inheritance sporadic
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Leukodystrophy, Hypomyelinating, 6

OMIM : 56 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 Vesicle-mediated transport and Transmission across Chemical Synapses. Affiliated tissues include cerebellum, brain and eye, 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 : 52 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

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 hypomyelinating leukodystrophy 28.5 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2
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 leukodystrophy, hypomyelinating, 19, transient infantile 11.2
11 wilson disease 10.5
12 ataxia and polyneuropathy, adult-onset 10.4
13 aceruloplasminemia 10.4
14 chronic interstitial cystitis 10.3 YKT6 VAMP4
15 polykaryocytosis inducer 10.2
16 proteasome-associated autoinflammatory syndrome 1 10.2
17 dementia 10.2
18 cleft palate, isolated 10.2
19 huntington disease-like 3 10.2
20 huntington disease-like 2 10.2
21 tubulin, beta 10.2
22 leukodystrophy 10.2
23 neuronal intranuclear inclusion disease 10.2 STXBP1 NSF
24 wound botulism 10.2 SNAP25 NSF
25 dystonia 10.1
26 benign familial infantile epilepsy 10.1 SYT1 STXBP1 SNAP25
27 dystonia 4, torsion, autosomal dominant 10.0
28 infant botulism 10.0 VAMP2 SYT1 SNAP25 NSF
29 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.0 STX6 NSF
30 foodborne botulism 9.9 VAMP2 SYT1 STX1A SNAP25 NSF
31 sturge-weber syndrome 9.9
32 neurodegeneration due to cerebral folate transport deficiency 9.9
33 leukodystrophy, hypomyelinating, 14 9.9
34 movement disease 9.9
35 weber syndrome 9.9
36 spasticity 9.9
37 hemophagocytic lymphohistiocytosis, familial, 4 9.7 VTI1B VAMP7 VAMP4 UNC13B STX4 STX3
38 tetanus 9.7 VTI1B VAMP7 VAMP2 STX3 STX1A SNAP25

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 seizures 31 HP:0001250
5 spasticity 31 HP:0001257
6 ataxia 31 HP:0001251
7 dysarthria 31 HP:0001260
8 tremor 31 HP:0001337
9 delayed speech and language development 31 HP:0000750
10 short stature 31 HP:0004322
11 microcephaly 31 HP:0000252
12 visual impairment 31 HP:0000505
13 optic atrophy 31 HP:0000648
14 specific learning disability 31 HP:0001328
15 dystonia 31 HP:0001332
16 motor delay 31 HP:0001270
17 rigidity 31 HP:0002063
18 poor speech 31 HP:0002465
19 choreoathetosis 31 HP:0001266
20 cerebellar atrophy 31 HP:0001272
21 leukodystrophy 31 HP:0002415
22 muscular hypotonia of the trunk 31 HP:0008936
23 cerebral hypomyelination 31 HP:0006808

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
ataxia
dysarthria
tremor
more
Head And Neck Head:
microcephaly

Head And Neck Ears:
hearing loss (uncommon)

Growth Height:
short stature

Head And Neck Eyes:
optic atrophy
poor vision
oculogyric eye movements
nystagmus (uncommon)

Clinical features from OMIM:

612438

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 6:


seizures, ataxia, tremor, muscle rigidity, muscle spasticity

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.44 NSF SNAP25 STX1A STX3 STX4 STX5

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:

40
Cerebellum, Brain, Eye, Testes

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. 56 6
25772097 2015
2
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. 56 6
24742798 2014
3
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 56 6
24850488 2014
4
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. 56 6
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. 56 6
23582646 2013
6
Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. 56 6
18851904 2009
7
Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum. 56 6
16707859 2006
8
TUBB4A-Related Leukodystrophy 6
27809427 2016
9
TUBB4A de novo mutations cause isolated hypomyelination. 56
25085639 2014
10
Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. 6
18466252 2008
11
Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. 56
17620549 2007
12
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case. 56
15944912 2005
13
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. 56
12372733 2002
14
Mutations in the Caenorhabditis elegans beta-tubulin gene mec-7: effects on microtubule assembly and stability and on tubulin autoregulation. 6
7983175 1994
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 71) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TUBB4A NM_006087.4(TUBB4A):c.4C>G (p.Arg2Gly)SNV Pathogenic 50984 rs587776983 19:6502220-6502220 19:6502209-6502209
2 TUBB4A NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn)SNV Pathogenic 50985 rs483352809 19:6495765-6495765 19:6495754-6495754
3 TUBB4A NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)SNV Pathogenic 135658 rs587777428 19:6495282-6495282 19:6495271-6495271
4 TUBB4A NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu)SNV Pathogenic 135659 rs587777429 19:6496043-6496043 19:6496032-6496032
5 TUBB4A NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln)SNV Pathogenic 139452 rs587777467 19:6502219-6502219 19:6502208-6502208
6 TUBB4A NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg)SNV Pathogenic 139453 rs587777468 19:6495977-6495977 19:6495966-6495966
7 TUBB4A NM_006087.4(TUBB4A):c.785G>A (p.Arg262His)SNV Pathogenic 265314 rs886039470 19:6495725-6495725 19:6495714-6495714
8 TUBB4A NM_006087.4(TUBB4A):c.1181T>G (p.Phe394Cys)SNV Pathogenic 267794 rs886041022 19:6495329-6495329 19:6495318-6495318
9 TUBB4A NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His)SNV Pathogenic 267793 rs886041021 19:6495338-6495338 19:6495327-6495327
10 TUBB4A NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile)SNV Pathogenic 267792 rs797045074 19:6495346-6495346 19:6495335-6495335
11 TUBB4A NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr)SNV Pathogenic 267791 rs886041020 19:6495347-6495347 19:6495336-6495336
12 TUBB4A NM_006087.4(TUBB4A):c.900G>T (p.Met300Ile)SNV Pathogenic 267782 rs886041012 19:6495610-6495610 19:6495599-6495599
13 TUBB4A NM_006087.4(TUBB4A):c.874C>A (p.Gln292Lys)SNV Pathogenic 267780 rs886041011 19:6495636-6495636 19:6495625-6495625
14 TUBB4A NM_006087.4(TUBB4A):c.845G>C (p.Arg282Pro)SNV Pathogenic 267779 rs756762431 19:6495665-6495665 19:6495654-6495654
15 TUBB4A NM_006087.4(TUBB4A):c.731G>T (p.Gly244Val)SNV Pathogenic 267777 rs886041010 19:6495779-6495779 19:6495768-6495768
16 TUBB4A NM_006087.4(TUBB4A):c.731G>A (p.Gly244Asp)SNV Pathogenic 267778 rs886041010 19:6495779-6495779 19:6495768-6495768
17 TUBB4A NM_006087.4(TUBB4A):c.730G>A (p.Gly244Ser)SNV Pathogenic 267772 rs886041007 19:6495780-6495780 19:6495769-6495769
18 TUBB4A NM_006087.4(TUBB4A):c.716G>T (p.Cys239Phe)SNV Pathogenic 267776 rs886041009 19:6495794-6495794 19:6495783-6495783
19 TUBB4A NM_006087.4(TUBB4A):c.544C>A (p.Pro182Thr)SNV Pathogenic 267775 rs886041008 19:6495966-6495966 19:6495955-6495955
20 TUBB4A NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met)SNV Pathogenic 267774 rs587777468 19:6495977-6495977 19:6495966-6495966
21 TUBB4A NM_006087.4(TUBB4A):c.4C>T (p.Arg2Trp)SNV Pathogenic 267773 rs587776983 19:6502220-6502220 19:6502209-6502209
22 TUBB4A NM_006087.3:c.900C>ASNV Pathogenic 267781
23 TUBB4A NM_006087.4(TUBB4A):c.1099T>C (p.Phe367Leu)SNV Pathogenic 267789 rs886041018 19:6495411-6495411 19:6495400-6495400
24 TUBB4A NM_006087.4(TUBB4A):c.1099T>A (p.Phe367Ile)SNV Pathogenic 267788 rs886041018 19:6495411-6495411 19:6495400-6495400
25 TUBB4A NM_006087.4(TUBB4A):c.1091C>A (p.Ala364Asp)SNV Pathogenic 267787 rs886041017 19:6495419-6495419 19:6495408-6495408
26 TUBB4A NM_006087.4(TUBB4A):c.1061G>A (p.Cys354Tyr)SNV Pathogenic 267786 rs886041016 19:6495449-6495449 19:6495438-6495438
27 TUBB4A NM_006087.4(TUBB4A):c.1054G>A (p.Ala352Thr)SNV Pathogenic 267785 rs886041015 19:6495456-6495456 19:6495445-6495445
28 TUBB4A NM_006087.4(TUBB4A):c.968T>G (p.Met323Arg)SNV Pathogenic 267784 rs886041014 19:6495542-6495542 19:6495531-6495531
29 TUBB4A NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr)SNV Pathogenic 192383 rs761635539 19:6495942-6495942 19:6495931-6495931
30 TUBB4A NM_006087.4(TUBB4A):c.1172G>T (p.Arg391Leu)SNV Pathogenic 419697 rs886041021 19:6495338-6495338 19:6495327-6495327
31 TUBB4A NM_006087.4(TUBB4A):c.730G>C (p.Gly244Arg)SNV Pathogenic 803516 19:6495780-6495780 19:6495769-6495769
32 TUBB4A NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile)SNV Pathogenic/Likely pathogenic 217025 rs767399782 19:6495747-6495747 19:6495736-6495736
33 TUBB4A NM_006087.4(TUBB4A):c.1181T>C (p.Phe394Ser)SNV Likely pathogenic 689794 19:6495329-6495329 19:6495318-6495318
34 TUBB4A NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp)SNV Likely pathogenic 453295 rs748787734 19:6495448-6495448 19:6495437-6495437
35 TUBB4A NM_006087.4(TUBB4A):c.1065C>A (p.Asp355Glu)SNV Likely pathogenic 807518 19:6495445-6495445 19:6495434-6495434
36 TUBB4A NM_006087.4(TUBB4A):c.1054G>T (p.Ala352Ser)SNV Likely pathogenic 807519 19:6495456-6495456 19:6495445-6495445
37 TUBB4A NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile)SNV Likely pathogenic 209201 rs797045074 19:6495346-6495346 19:6495335-6495335
38 TUBB4A NM_006087.4(TUBB4A):c.941C>T (p.Ala314Val)SNV Likely pathogenic 267783 rs886041013 19:6495569-6495569 19:6495558-6495558
39 TUBB4A NM_006087.4(TUBB4A):c.1162A>G (p.Met388Val)SNV Likely pathogenic 267790 rs886041019 19:6495348-6495348 19:6495337-6495337
40 TUBB4A NM_006087.4(TUBB4A):c.915G>A (p.Pro305=)SNV Conflicting interpretations of pathogenicity 212502 rs149903666 19:6495595-6495595 19:6495584-6495584
41 TUBB4A NM_006087.4(TUBB4A):c.*440C>TSNV Uncertain significance 330252 rs886054651 19:6494735-6494735 19:6494724-6494724
42 TUBB4A NM_006087.4(TUBB4A):c.1316C>A (p.Ala439Glu)SNV Uncertain significance 537238 rs199569370 19:6495194-6495194 19:6495183-6495183
43 TUBB4A NM_006087.4(TUBB4A):c.769A>T (p.Met257Leu)SNV Uncertain significance 537237 rs1555754019 19:6495741-6495741 19:6495730-6495730
44 TUBB4A NM_006087.4(TUBB4A):c.686T>C (p.Val229Ala)SNV Uncertain significance 580978 rs1568409626 19:6495824-6495824 19:6495813-6495813
45 TUBB4A NM_006087.4(TUBB4A):c.673C>T (p.Leu225Phe)SNV Uncertain significance 578590 rs1568409639 19:6495837-6495837 19:6495826-6495826
46 TUBB4A NM_006087.4(TUBB4A):c.1316C>T (p.Ala439Val)SNV Uncertain significance 656505 19:6495194-6495194 19:6495183-6495183
47 TUBB4A NM_006087.4(TUBB4A):c.703G>A (p.Gly235Arg)SNV Uncertain significance 643798 19:6495807-6495807 19:6495796-6495796
48 TUBB4A NM_006087.4(TUBB4A):c.276T>C (p.Phe92=)SNV Uncertain significance 662114 19:6501299-6501299 19:6501288-6501288
49 TUBB4A NM_006087.4(TUBB4A):c.*100G>ASNV Likely benign 330257 rs528792394 19:6495075-6495075 19:6495064-6495064
50 TUBB4A NM_001289123.1(TUBB4A):c.*856G>ASNV Likely benign 369298 rs140030420 19:6494319-6494319 19:6494308-6494308

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 SYT1
2
Show member pathways
12.91 VAMP2 UNC13B SYT1 STXBP1 STX1A SNAP25
3
Show member pathways
12.79 VAMP2 STX5 STX4 STX3 STX1A SNAP25
4
Show member pathways
12.59 YKT6 VPS45 VAMP4 STX6 STX5 NSF
5 12.47 VAMP2 SYT1 STXBP1 STX1A SNAP25 NSF
6
Show member pathways
12.36 VAMP2 STXBP1 STX4 SNAP25
7
Show member pathways
12.24 VAMP7 VAMP4 VAMP2 SYT1
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
12.11 VAMP2 UNC13B SYT1 STXBP1 STX1A SNAP25
11
Show member pathways
12.02 VAMP2 UNC13B UNC13A SYT1 STXBP1 STX3
12
Show member pathways
11.87 SYT1 STXBP1 STX1A
13
Show member pathways
11.68 VAMP2 SYT1 STX1A SNAP25
14 11.41 VAMP4 STX6 NSF
15 11.37 YKT6 VPS45 STX6 STX5 NSF
16
Show member pathways
11.37 YKT6 VTI1B VAMP7 VAMP4 VAMP2 STX6
17 11.36 VAMP2 STX4 NSF
18
Show member pathways
11.32 VPS45 VAMP2 SNAP25 NSF
19 10.59 VAMP2 UNC13B SYT1 STXBP1 STX1A SNAP25

GO Terms for Leukodystrophy, Hypomyelinating, 6

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.51 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2
2 integral component of membrane GO:0016021 10.48 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2
3 cytosol GO:0005829 10.47 YKT6 VTI1B VAMP2 UNC13B TUBB4A STXBP1
4 plasma membrane GO:0005886 10.43 VAMP7 VAMP4 VAMP2 UNC13B UNC13A SYT1
5 Golgi apparatus GO:0005794 10.18 YKT6 VTI1B VPS45 VAMP7 VAMP4 UNC13B
6 cell junction GO:0030054 10.14 VAMP7 VAMP2 UNC13B UNC13A SYT1 STX1A
7 synapse GO:0045202 10.13 VAMP7 VAMP2 UNC13B UNC13A SYT1 STX4
8 endosome GO:0005768 10.12 YKT6 VTI1B VPS45 VAMP7 VAMP4 STX4
9 Golgi membrane GO:0000139 10.11 YKT6 VPS45 VAMP4 STX6 STX5 NSF
10 perinuclear region of cytoplasm GO:0048471 10.11 VTI1B VAMP7 VAMP2 STXBP1 STX6 STX4
11 axon GO:0030424 10.05 UNC13A SYT1 STXBP1 STX1A SNAP25
12 neuron projection GO:0043005 10.04 VAMP7 VAMP2 UNC13A SYT1 STX3 STX1A
13 glutamatergic synapse GO:0098978 9.97 UNC13B UNC13A SYT1 STXBP1 STX4 STX3
14 vesicle GO:0031982 9.95 VTI1B VAMP2 STX5 SNAP25
15 trans-Golgi network GO:0005802 9.95 VAMP7 VAMP2 STX6 STX4 SNAP25
16 presynapse GO:0098793 9.93 UNC13B UNC13A STXBP1 STX3
17 endomembrane system GO:0012505 9.91 STX6 STX5 STX4 STX3 STX1A
18 postsynapse GO:0098794 9.89 STXBP1 STX4 STX3 SNAP25
19 transport vesicle GO:0030133 9.86 YKT6 VAMP7 VAMP4
20 phagocytic vesicle GO:0045335 9.86 VAMP7 STXBP1 STX6 STX4
21 secretory granule GO:0030141 9.85 VAMP7 VAMP2 SYT1 STX3 STX1A
22 voltage-gated potassium channel complex GO:0008076 9.84 VAMP2 STX1A SNAP25
23 clathrin-coated vesicle membrane GO:0030665 9.84 VAMP7 VAMP4 VAMP2 SYT1
24 synaptic vesicle membrane GO:0030672 9.83 VAMP2 UNC13B UNC13A SYT1 STX1A
25 hippocampal mossy fiber to CA3 synapse GO:0098686 9.79 VAMP7 UNC13B SYT1
26 calyx of Held GO:0044305 9.7 UNC13B UNC13A
27 presynaptic membrane GO:0042734 9.7 UNC13B UNC13A SYT1 STX4 STX3 STX1A
28 vacuole GO:0005773 9.69 STX4 STX3
29 neuron projection terminus GO:0044306 9.69 VAMP2 SYT1
30 presynaptic active zone cytoplasmic component GO:0098831 9.69 UNC13B UNC13A
31 somatodendritic compartment GO:0036477 9.68 STX4 SNAP25
32 platelet alpha granule GO:0031091 9.68 VAMP7 STXBP1
33 intracellular organelle GO:0043229 9.68 SYT1 STX1A
34 specific granule GO:0042581 9.67 STX4 STX3
35 zymogen granule membrane GO:0042589 9.66 VAMP2 STX3
36 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.66 VAMP2 SYT1
37 integral component of synaptic vesicle membrane GO:0030285 9.65 VAMP7 VAMP4 SYT1 STX6 STX1A
38 SNARE complex GO:0031201 9.65 YKT6 VTI1B VAMP7 VAMP2 STX6 STX5
39 clathrin-sculpted monoamine transport vesicle membrane GO:0070083 9.64 VAMP2 SYT1
40 synaptobrevin 2-SNAP-25-syntaxin-1a complex GO:0070044 9.62 VAMP2 STX1A
41 clathrin-sculpted glutamate transport vesicle membrane GO:0060203 9.62 VAMP2 SYT1
42 presynaptic active zone membrane GO:0048787 9.62 STXBP1 STX4 STX3 STX1A
43 synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex GO:0070033 9.61 VAMP2 STX1A
44 synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex GO:0070032 9.58 VAMP2 STX1A SNAP25
45 synaptic vesicle GO:0008021 9.36 VTI1B VPS45 VAMP7 VAMP4 VAMP2 SYT1

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.2 YKT6 VTI1B VPS45 VAMP7 VAMP2 STXBP1
2 intracellular protein transport GO:0006886 10.11 VTI1B VPS45 STX6 STX5 STX4 STX3
3 ER to Golgi vesicle-mediated transport GO:0006888 10.04 YKT6 VTI1B VAMP7 VAMP4 STX5 NSF
4 chemical synaptic transmission GO:0007268 9.97 UNC13B UNC13A SYT1 SNAP25
5 membrane organization GO:0061024 9.94 VAMP7 VAMP4 VAMP2 SYT1
6 retrograde transport, endosome to Golgi GO:0042147 9.93 YKT6 VTI1B STX6 STX5
7 long-term synaptic potentiation GO:0060291 9.91 VAMP2 STX4 STX3 SNAP25
8 synaptic vesicle exocytosis GO:0016079 9.91 VAMP2 UNC13B UNC13A SYT1 STX1A SNAP25
9 membrane fusion GO:0061025 9.9 YKT6 VTI1B VAMP2 STX3
10 Golgi to plasma membrane protein transport GO:0043001 9.89 VAMP7 VAMP4 VAMP2 NSF
11 regulation of exocytosis GO:0017157 9.89 VAMP2 SYT1 STX4 STX1A NSF
12 calcium ion regulated exocytosis GO:0017156 9.88 VAMP7 VAMP2 SYT1 STX1A
13 vesicle docking involved in exocytosis GO:0006904 9.88 YKT6 VTI1B VPS45 STXBP1 SCFD1
14 post-Golgi vesicle-mediated transport GO:0006892 9.86 VAMP7 VAMP2 STX4 SCFD1
15 COPII vesicle coating GO:0048208 9.85 STX5 SCFD1 NSF
16 synaptic vesicle docking GO:0016081 9.85 UNC13B UNC13A STX3 STX1A SNAP25
17 glutamate secretion GO:0014047 9.85 VAMP2 UNC13B SYT1 STXBP1 STX1A SNAP25
18 synaptic vesicle priming GO:0016082 9.84 UNC13B UNC13A STXBP1 SNAP25
19 neurotransmitter transport GO:0006836 9.83 STX4 STX3 STX1A
20 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.83 STX4 STX3 STX1A SNAP25
21 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.8 SYT1 STXBP1 STX1A
22 SNARE complex assembly GO:0035493 9.8 VAMP7 VAMP4 STXBP1 STX4 STX1A
23 vesicle docking GO:0048278 9.8 SYT1 STX6 STX5 STX4 STX3 STX1A
24 neurotransmitter secretion GO:0007269 9.8 VAMP2 UNC13B UNC13A SYT1 STXBP1 STX1A
25 synaptic vesicle maturation GO:0016188 9.79 UNC13B UNC13A STXBP1
26 vesicle fusion with Golgi apparatus GO:0048280 9.78 VTI1B VAMP7 STX5
27 presynaptic dense core vesicle exocytosis GO:0099525 9.75 UNC13B UNC13A STXBP1
28 vesicle fusion GO:0006906 9.7 VAMP7 STX6 STX5 STX4 STX3 STX1A
29 positive regulation of exocytosis GO:0045921 9.69 STXBP1 STX1A
30 positive regulation of dendrite extension GO:1903861 9.69 UNC13A SYT1
31 innervation GO:0060384 9.69 UNC13B UNC13A
32 positive regulation of protein localization to cell surface GO:2000010 9.68 STX4 STX3
33 positive regulation of chemotaxis GO:0050921 9.68 STX4 STX3
34 regulation of short-term neuronal synaptic plasticity GO:0048172 9.68 UNC13B UNC13A
35 Golgi ribbon formation GO:0090161 9.68 VAMP4 STX6
36 positive regulation of neurotransmitter secretion GO:0001956 9.67 UNC13A STX1A
37 natural killer cell degranulation GO:0043320 9.66 VAMP7 VAMP2
38 regulation of synaptic vesicle priming GO:0010807 9.66 STXBP1 STX1A
39 exocytic insertion of neurotransmitter receptor to postsynaptic membrane GO:0098967 9.65 STX3 SNAP25
40 eosinophil degranulation GO:0043308 9.65 VAMP7 VAMP2
41 exocytosis GO:0006887 9.65 VAMP7 VAMP2 UNC13B UNC13A STXBP1 STX4
42 dense core granule priming GO:0061789 9.64 UNC13B UNC13A
43 synaptic vesicle to endosome fusion GO:0016189 9.63 VAMP4 STX6
44 vesicle-mediated transport GO:0016192 9.5 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.35 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2
2 syntaxin-1 binding GO:0017075 9.8 VAMP2 UNC13B UNC13A SYT1 STXBP1 SNAP25
3 calmodulin binding GO:0005516 9.76 VAMP2 UNC13B UNC13A SYT1
4 syntaxin binding GO:0019905 9.76 VAMP7 VAMP2 SYT1 STXBP1 STX6 SNAP25
5 protein N-terminus binding GO:0047485 9.73 STXBP1 STX5 STX1A SCFD1
6 phospholipid binding GO:0005543 9.71 VAMP2 UNC13B UNC13A SYT1
7 calcium-dependent protein binding GO:0048306 9.62 VAMP2 SYT1 STX1A SNAP25
8 SNAP receptor activity GO:0005484 9.61 YKT6 VTI1B VAMP7 STX6 STX5 STX4
9 diacylglycerol binding GO:0019992 9.49 UNC13B UNC13A
10 chloride channel inhibitor activity GO:0019869 9.48 VTI1B STX1A
11 SNARE binding GO:0000149 9.36 VTI1B VAMP7 VAMP2 SYT1 STXBP1 STX6

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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