HLD6
MCID: LKD019
MIFTS: 52

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 hearing impairment and nystagmus

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 37)
# Related Disease Score Top Affiliating Genes
1 hypomyelinating leukodystrophy 28.9 YKT6 VTI1B VPS45 VAMP2 UNC13B TUBB4A
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 polykaryocytosis inducer 10.2
13 proteasome-associated autoinflammatory syndrome 1 10.2
14 dementia 10.2
15 cleft palate, isolated 10.2
16 huntington disease-like 3 10.2
17 huntington disease-like 2 10.2
18 tubulin, beta 10.2
19 leukodystrophy 10.2
20 cerebral degeneration 10.2 STXBP1 STX1A NAPA
21 dystonia 10.2
22 wound botulism 10.1 VAMP2 SNAP25 NSF
23 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.1 STX6 NSF
24 neuronal intranuclear inclusion disease 10.0 STXBP1 NSF
25 foodborne botulism 10.0 VAMP4 VAMP2 SNAP25 NSF
26 dystonia 4, torsion, autosomal dominant 10.0
27 infant botulism 9.9 YKT6 VAMP4 VAMP2 SNAP25 NSF
28 sturge-weber syndrome 9.9
29 ataxia and polyneuropathy, adult-onset 9.9
30 neurodegeneration due to cerebral folate transport deficiency 9.9
31 leukodystrophy, hypomyelinating, 14 9.9
32 movement disease 9.9
33 weber syndrome 9.9
34 spasticity 9.9
35 tremor 9.9
36 hemophagocytic lymphohistiocytosis, familial, 4 9.7 VTI1B VAMP7 VAMP4 UNC13B STX4 STX3
37 tetanus 9.6 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 hearing impairment 31 occasional (7.5%) HP:0000365
2 nystagmus 31 occasional (7.5%) HP:0000639
3 intellectual disability 31 HP:0001249
4 delayed speech and language development 31 HP:0000750
5 microcephaly 31 HP:0000252
6 visual impairment 31 HP:0000505
7 optic atrophy 31 HP:0000648
8 short stature 31 HP:0004322
9 spasticity 31 HP:0001257
10 ataxia 31 HP:0001251
11 tremor 31 HP:0001337
12 specific learning disability 31 HP:0001328
13 motor delay 31 HP:0001270
14 dysarthria 31 HP:0001260
15 dystonia 31 HP:0001332
16 cerebellar atrophy 31 HP:0001272
17 leukodystrophy 31 HP:0002415
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:

56
Neurologic Central Nervous System:
seizures
spasticity
ataxia
tremor
dysarthria
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

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 NAPA NSF SNAP25 STX1A STX3 STX6
2 mortality/aging MP:0010768 9.77 NAPA NSF SNAP25 STX1A STX3 STX4
3 nervous system MP:0003631 9.36 NAPA SNAP25 STX1A STX5 STXBP1 UFM1

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, Brain, 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. 6 56
25772097 2015
2
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 6 56
24850488 2014
3
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. 6 56
24742798 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. 6 56
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 93) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TUBB4A NM_006087.4(TUBB4A):c.730G>C (p.Gly244Arg)SNV Pathogenic 803516 19:6495780-6495780 19:6495769-6495769
2 TUBB4A NM_006087.4(TUBB4A):c.1172G>T (p.Arg391Leu)SNV Pathogenic 419697 rs886041021 19:6495338-6495338 19:6495327-6495327
3 TUBB4A NM_006087.4(TUBB4A):c.4C>G (p.Arg2Gly)SNV Pathogenic 50984 rs587776983 19:6502220-6502220 19:6502209-6502209
4 TUBB4A NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn)SNV Pathogenic 50985 rs483352809 19:6495765-6495765 19:6495754-6495754
5 TUBB4A NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)SNV Pathogenic 135658 rs587777428 19:6495282-6495282 19:6495271-6495271
6 TUBB4A NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu)SNV Pathogenic 135659 rs587777429 19:6496043-6496043 19:6496032-6496032
7 TUBB4A NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln)SNV Pathogenic 139452 rs587777467 19:6502219-6502219 19:6502208-6502208
8 TUBB4A NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg)SNV Pathogenic 139453 rs587777468 19:6495977-6495977 19:6495966-6495966
9 TUBB4A NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr)SNV Pathogenic 192383 rs761635539 19:6495942-6495942 19:6495931-6495931
10 TUBB4A NM_006087.4(TUBB4A):c.785G>A (p.Arg262His)SNV Pathogenic 265314 rs886039470 19:6495725-6495725 19:6495714-6495714
11 TUBB4A NM_006087.4(TUBB4A):c.1181T>G (p.Phe394Cys)SNV Pathogenic 267794 rs886041022 19:6495329-6495329 19:6495318-6495318
12 TUBB4A NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His)SNV Pathogenic 267793 rs886041021 19:6495338-6495338 19:6495327-6495327
13 TUBB4A NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile)SNV Pathogenic 267792 rs797045074 19:6495346-6495346 19:6495335-6495335
14 TUBB4A NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr)SNV Pathogenic 267791 rs886041020 19:6495347-6495347 19:6495336-6495336
15 TUBB4A NM_006087.4(TUBB4A):c.900G>T (p.Met300Ile)SNV Pathogenic 267782 rs886041012 19:6495610-6495610 19:6495599-6495599
16 TUBB4A NM_006087.4(TUBB4A):c.874C>A (p.Gln292Lys)SNV Pathogenic 267780 rs886041011 19:6495636-6495636 19:6495625-6495625
17 TUBB4A NM_006087.4(TUBB4A):c.845G>C (p.Arg282Pro)SNV Pathogenic 267779 rs756762431 19:6495665-6495665 19:6495654-6495654
18 TUBB4A NM_006087.4(TUBB4A):c.731G>T (p.Gly244Val)SNV Pathogenic 267777 rs886041010 19:6495779-6495779 19:6495768-6495768
19 TUBB4A NM_006087.4(TUBB4A):c.731G>A (p.Gly244Asp)SNV Pathogenic 267778 rs886041010 19:6495779-6495779 19:6495768-6495768
20 TUBB4A NM_006087.4(TUBB4A):c.730G>A (p.Gly244Ser)SNV Pathogenic 267772 rs886041007 19:6495780-6495780 19:6495769-6495769
21 TUBB4A NM_006087.4(TUBB4A):c.716G>T (p.Cys239Phe)SNV Pathogenic 267776 rs886041009 19:6495794-6495794 19:6495783-6495783
22 TUBB4A NM_006087.4(TUBB4A):c.544C>A (p.Pro182Thr)SNV Pathogenic 267775 rs886041008 19:6495966-6495966 19:6495955-6495955
23 TUBB4A NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met)SNV Pathogenic 267774 rs587777468 19:6495977-6495977 19:6495966-6495966
24 TUBB4A NM_006087.4(TUBB4A):c.4C>T (p.Arg2Trp)SNV Pathogenic 267773 rs587776983 19:6502220-6502220 19:6502209-6502209
25 TUBB4A NM_006087.3:c.900C>ASNV Pathogenic 267781
26 TUBB4A NM_006087.4(TUBB4A):c.1099T>C (p.Phe367Leu)SNV Pathogenic 267789 rs886041018 19:6495411-6495411 19:6495400-6495400
27 TUBB4A NM_006087.4(TUBB4A):c.1099T>A (p.Phe367Ile)SNV Pathogenic 267788 rs886041018 19:6495411-6495411 19:6495400-6495400
28 TUBB4A NM_006087.4(TUBB4A):c.1091C>A (p.Ala364Asp)SNV Pathogenic 267787 rs886041017 19:6495419-6495419 19:6495408-6495408
29 TUBB4A NM_006087.4(TUBB4A):c.1061G>A (p.Cys354Tyr)SNV Pathogenic 267786 rs886041016 19:6495449-6495449 19:6495438-6495438
30 TUBB4A NM_006087.4(TUBB4A):c.1054G>A (p.Ala352Thr)SNV Pathogenic 267785 rs886041015 19:6495456-6495456 19:6495445-6495445
31 TUBB4A NM_006087.4(TUBB4A):c.968T>G (p.Met323Arg)SNV Pathogenic 267784 rs886041014 19:6495542-6495542 19:6495531-6495531
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.1162A>G (p.Met388Val)SNV Likely pathogenic 267790 rs886041019 19:6495348-6495348 19:6495337-6495337
34 TUBB4A NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile)SNV Likely pathogenic 209201 rs797045074 19:6495346-6495346 19:6495335-6495335
35 TUBB4A NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp)SNV Likely pathogenic 453295 rs748787734 19:6495448-6495448 19:6495437-6495437
36 TUBB4A NM_006087.4(TUBB4A):c.1181T>C (p.Phe394Ser)SNV Likely pathogenic 689794 19:6495329-6495329 19:6495318-6495318
37 TUBB4A NM_006087.4(TUBB4A):c.1065C>A (p.Asp355Glu)SNV Likely pathogenic 807518 19:6495445-6495445 19:6495434-6495434
38 TUBB4A NM_006087.4(TUBB4A):c.1054G>T (p.Ala352Ser)SNV Likely pathogenic 807519 19:6495456-6495456 19:6495445-6495445
39 TUBB4A NM_006087.4(TUBB4A):c.1311G>A (p.Glu437=)SNV Conflicting interpretations of pathogenicity 623920 rs369467354 19:6495199-6495199 19:6495188-6495188
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.941C>T (p.Ala314Val)SNV Conflicting interpretations of pathogenicity 267783 rs886041013 19:6495569-6495569 19:6495558-6495558
42 TUBB4A NM_006087.4(TUBB4A):c.*440C>TSNV Uncertain significance 330252 rs886054651 19:6494735-6494735 19:6494724-6494724
43 TUBB4A NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=)SNV Uncertain significance 893383 19:6495844-6495844 19:6495833-6495833
44 TUBB4A NM_006087.4(TUBB4A):c.630C>T (p.Ile210=)SNV Uncertain significance 894214 19:6495880-6495880 19:6495869-6495869
45 TUBB4A NM_006087.4(TUBB4A):c.*627A>CSNV Uncertain significance 894560 19:6494548-6494548 19:6494537-6494537
46 TUBB4A NM_006087.4(TUBB4A):c.*579C>TSNV Uncertain significance 894561 19:6494596-6494596 19:6494585-6494585
47 TUBB4A NM_006087.4(TUBB4A):c.*304C>TSNV Uncertain significance 893139 19:6494871-6494871 19:6494860-6494860
48 TUBB4A NM_006087.4(TUBB4A):c.*86G>ASNV Uncertain significance 894182 19:6495089-6495089 19:6495078-6495078
49 TUBB4A NM_006087.4(TUBB4A):c.1316C>T (p.Ala439Val)SNV Uncertain significance 656505 19:6495194-6495194 19:6495183-6495183
50 TUBB4A NM_006087.4(TUBB4A):c.703G>A (p.Gly235Arg)SNV Uncertain significance 643798 19:6495807-6495807 19:6495796-6495796

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 YKT6 VPS45 VAMP7 VAMP4 VAMP2 STX6
2
Show member pathways
12.87 VAMP2 UNC13B STXBP1 STX1A SNAP25 NSF
3
Show member pathways
12.76 VAMP2 STX5 STX4 STX3 STX1A SNAP25
4
Show member pathways
12.57 YKT6 VPS45 VAMP4 STX6 STX5 NSF
5 12.44 VAMP2 STXBP1 STX1A SNAP25 NSF
6
Show member pathways
12.36 VAMP2 STXBP1 STX4 SNAP25
7
Show member pathways
12.24 VAMP7 VAMP2 STX4 NAPA
8
Show member pathways
12.21 VAMP2 STXBP1 STX1A SNAP25
9
Show member pathways
12.11 VAMP2 UNC13B STXBP1 STX1A SNAP25
10
Show member pathways
11.92 VAMP2 UNC13B UNC13A STXBP1 STX3 STX1A
11
Show member pathways
11.79 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2
12
Show member pathways
11.7 YKT6 VTI1B VAMP7 VAMP4 VAMP2 STX6
13
Show member pathways
11.64 VAMP2 STX1A SNAP25
14 11.45 VAMP4 STX6 NSF NAPA
15 11.45 YKT6 VPS45 STX6 STX5 NSF NAPA
16 11.34 VAMP2 STX4 NSF
17
Show member pathways
11.32 VPS45 VAMP2 SNAP25 NSF
18 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 35)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.53 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2
2 plasma membrane GO:0005886 10.46 VAMP7 VAMP4 VAMP2 UNC13B UNC13A STXBP1
3 cytosol GO:0005829 10.44 YKT6 VTI1B VAMP2 UNC13B TUBB4A STXBP1
4 Golgi apparatus GO:0005794 10.19 YKT6 VTI1B VPS45 VAMP7 VAMP4 UNC13B
5 synapse GO:0045202 10.14 VAMP7 VAMP2 UNC13B UNC13A STX4 STX1A
6 cell junction GO:0030054 10.12 VAMP7 VAMP2 UNC13B UNC13A STX1A SNAP25
7 perinuclear region of cytoplasm GO:0048471 10.12 VTI1B VAMP7 VAMP2 STXBP1 STX6 STX4
8 endosome GO:0005768 10.1 YKT6 VTI1B VPS45 VAMP7 VAMP4 STX4
9 Golgi membrane GO:0000139 10.08 YKT6 VPS45 VAMP4 STX6 STX5 SCFD1
10 neuron projection GO:0043005 10.06 VAMP7 VAMP2 UNC13A STX3 STX1A SNAP25
11 endomembrane system GO:0012505 9.96 STX6 STX5 STX4 STX3 STX1A
12 vesicle GO:0031982 9.93 VTI1B VAMP2 STX5 SNAP25
13 presynapse GO:0098793 9.92 UNC13B UNC13A STXBP1 STX3 NAPA
14 postsynapse GO:0098794 9.91 STXBP1 STX4 STX3 SNAP25 NAPA
15 secretory granule GO:0030141 9.89 VAMP7 VAMP2 STXBP1 STX3 STX1A
16 synaptic vesicle membrane GO:0030672 9.87 VAMP2 UNC13B UNC13A STX1A
17 glutamatergic synapse GO:0098978 9.86 UNC13B UNC13A STXBP1 STX4 STX3 STX1A
18 phagocytic vesicle GO:0045335 9.85 VAMP7 STXBP1 STX6 STX4
19 trans-Golgi network GO:0005802 9.85 VAMP7 VAMP4 VAMP2 STX6 STX4 SNAP25
20 voltage-gated potassium channel complex GO:0008076 9.82 VAMP2 STX1A SNAP25
21 clathrin-coated vesicle membrane GO:0030665 9.81 VAMP7 VAMP4 VAMP2
22 integral component of synaptic vesicle membrane GO:0030285 9.76 VAMP7 VAMP4 STX6 STX1A
23 calyx of Held GO:0044305 9.67 UNC13B UNC13A
24 presynaptic active zone cytoplasmic component GO:0098831 9.66 UNC13B UNC13A
25 somatodendritic compartment GO:0036477 9.66 STX4 SNAP25
26 platelet alpha granule GO:0031091 9.65 VAMP7 STXBP1
27 specific granule GO:0042581 9.65 STX4 STX3
28 zymogen granule membrane GO:0042589 9.64 VAMP2 STX3
29 presynaptic membrane GO:0042734 9.63 UNC13B UNC13A STX4 STX3 STX1A SNAP25
30 synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex GO:0070033 9.62 VAMP2 STX1A
31 presynaptic active zone membrane GO:0048787 9.62 STXBP1 STX4 STX3 STX1A
32 synaptobrevin 2-SNAP-25-syntaxin-1a complex GO:0070044 9.61 VAMP2 STX1A NAPA
33 synaptic vesicle GO:0008021 9.61 VTI1B VPS45 VAMP4 VAMP2 STX6 STX4
34 synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex GO:0070032 9.58 VAMP2 STX1A SNAP25
35 SNARE complex GO:0031201 9.4 YKT6 VTI1B VAMP7 VAMP4 VAMP2 STX6

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.19 YKT6 VTI1B VPS45 VAMP7 VAMP2 STXBP1
2 intracellular protein transport GO:0006886 10.06 VTI1B VPS45 STXBP1 STX6 STX5 STX4
3 ER to Golgi vesicle-mediated transport GO:0006888 10.01 YKT6 VTI1B VAMP7 VAMP4 STX5 SCFD1
4 membrane fusion GO:0061025 9.95 YKT6 VTI1B VAMP2 STX3 NAPA
5 retrograde transport, endosome to Golgi GO:0042147 9.93 YKT6 VTI1B STX6 STX5
6 vesicle docking involved in exocytosis GO:0006904 9.93 YKT6 VTI1B VPS45 STXBP1 SCFD1
7 neurotransmitter secretion GO:0007269 9.93 VAMP2 UNC13B UNC13A STXBP1 STX1A SNAP25
8 COPII vesicle coating GO:0048208 9.92 STX5 SCFD1 NSF NAPA
9 synaptic vesicle exocytosis GO:0016079 9.92 VAMP2 UNC13B UNC13A STX1A SNAP25
10 long-term synaptic potentiation GO:0060291 9.91 VAMP2 STX4 STX3 SNAP25
11 glutamate secretion GO:0014047 9.91 VAMP2 UNC13B STXBP1 STX1A SNAP25
12 regulation of exocytosis GO:0017157 9.9 VAMP2 STX4 STX1A NSF
13 Golgi to plasma membrane protein transport GO:0043001 9.88 VAMP7 VAMP4 VAMP2 NSF
14 vesicle docking GO:0048278 9.88 STX6 STX5 STX4 STX3 STX1A
15 membrane organization GO:0061024 9.87 VAMP7 VAMP4 VAMP2
16 post-Golgi vesicle-mediated transport GO:0006892 9.87 VAMP7 VAMP2 STX4 SCFD1
17 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.86 STX4 STX3 STX1A SNAP25
18 retrograde vesicle-mediated transport, Golgi to ER GO:0006890 9.85 SCFD1 NSF NAPA
19 neurotransmitter transport GO:0006836 9.84 STX4 STX3 STX1A
20 synaptic transmission, glutamatergic GO:0035249 9.83 UNC13B UNC13A NAPA
21 intra-Golgi vesicle-mediated transport GO:0006891 9.83 VTI1B NSF NAPA
22 synaptic vesicle priming GO:0016082 9.83 UNC13B UNC13A STXBP1 SNAP25 NAPA
23 calcium ion regulated exocytosis GO:0017156 9.81 VAMP7 VAMP2 STX1A
24 synaptic vesicle maturation GO:0016188 9.79 UNC13B UNC13A STXBP1
25 vesicle fusion with Golgi apparatus GO:0048280 9.78 VTI1B VAMP7 STX5
26 regulation of synaptic vesicle priming GO:0010807 9.77 STXBP1 STX1A NAPA
27 synaptic vesicle docking GO:0016081 9.77 UNC13B UNC13A STX3 STX1A SNAP25
28 vesicle fusion GO:0006906 9.76 VAMP7 VAMP2 STX6 STX5 STX4 STX3
29 presynaptic dense core vesicle exocytosis GO:0099525 9.75 UNC13B UNC13A STXBP1
30 SNARE complex assembly GO:0035493 9.73 VAMP7 VAMP4 VAMP2 STXBP1 STX4 STX1A
31 positive regulation of exocytosis GO:0045921 9.7 STXBP1 STX1A
32 innervation GO:0060384 9.7 UNC13B UNC13A
33 positive regulation of protein localization to cell surface GO:2000010 9.69 STX4 STX3
34 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.69 STXBP1 STX1A
35 positive regulation of chemotaxis GO:0050921 9.69 STX4 STX3
36 regulation of short-term neuronal synaptic plasticity GO:0048172 9.68 UNC13B UNC13A
37 Golgi ribbon formation GO:0090161 9.68 VAMP4 STX6
38 positive regulation of neurotransmitter secretion GO:0001956 9.68 UNC13A STX1A
39 natural killer cell degranulation GO:0043320 9.67 VAMP7 VAMP2
40 exocytic insertion of neurotransmitter receptor to postsynaptic membrane GO:0098967 9.67 STX3 SNAP25
41 eosinophil degranulation GO:0043308 9.66 VAMP7 VAMP2
42 dense core granule priming GO:0061789 9.65 UNC13B UNC13A
43 SNARE complex disassembly GO:0035494 9.65 NSF NAPA
44 exocytosis GO:0006887 9.65 VAMP7 VAMP2 UNC13B UNC13A STXBP1 STX4
45 synaptic vesicle to endosome fusion GO:0016189 9.64 VAMP4 STX6
46 neuronal dense core vesicle exocytosis GO:0099011 9.63 UNC13B UNC13A
47 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:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 YKT6 VTI1B VPS45 VAMP7 VAMP4 VAMP2
2 syntaxin binding GO:0019905 9.76 VAMP7 VAMP2 STXBP1 STX6 SNAP25 SCFD1
3 syntaxin-1 binding GO:0017075 9.73 VAMP2 UNC13B UNC13A STXBP1 SNAP25 NSF
4 protein N-terminus binding GO:0047485 9.67 STXBP1 STX5 STX1A SCFD1
5 phospholipid binding GO:0005543 9.65 VAMP2 UNC13B UNC13A
6 SNAP receptor activity GO:0005484 9.65 YKT6 VTI1B VAMP7 VAMP2 STX6 STX5
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 9.43 VTI1B STX1A
10 SNARE binding GO:0000149 9.4 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
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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