HLD2
MCID: LKD010
MIFTS: 48

Leukodystrophy, Hypomyelinating, 2 (HLD2)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 2

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 2:

Name: Leukodystrophy, Hypomyelinating, 2 57 72 29 13 6 70
Pmld1 57 12 25 43 58 72
Hld2 57 12 25 43 72
Hypomyelinating Leukodystrophy 2 12 25 43 15
Pelizaeus-Merzbacher-Like Disease Due to Gjc2 Mutation 12 58
Pelizaeus-Merzbacher-Like Disease Type 1 43 72
Pelizaeus-Merzbacher-Like Disease 1 12 25
Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1 72
Pelizaeus-Merzbacher-Like Disease, 1; Pmld1 57
Pmld - Pelizaeus Merzbacher Like Disease 43
Leukodystrophy, Hypomyelinating, Type 2 39
Pelizaeus-Merzbacher-Like Disease, 1 57
Pelizaeus-Merzbacher-Like Disease 43
Pelizaeus Merzbacher Like Disease 43
Pmldar1 72

Characteristics:

Orphanet epidemiological data:

58
pelizaeus-merzbacher-like disease due to gjc2 mutation
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
most children become wheelchair-bound
similar disorder to x-linked pelizaeus-merzbacher disease (pmd, )


HPO:

31
leukodystrophy, hypomyelinating, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060787
OMIM® 57 608804
OMIM Phenotypic Series 57 PS312080
MeSH 44 D020279
ICD10 32 E75.2
ICD10 via Orphanet 33 E75.2
UMLS via Orphanet 71 C1837355
Orphanet 58 ORPHA280282
MedGen 41 C1837355
UMLS 70 C1837355

Summaries for Leukodystrophy, Hypomyelinating, 2

MedlinePlus Genetics : 43 Pelizaeus-Merzbacher-like disease type 1 is an inherited condition involving the brain and spinal cord (central nervous system). This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In particular, Pelizaeus-Merzbacher-like disease type 1 involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. The signs and symptoms of this condition are very similar to another leukodystrophy called Pelizaeus-Merzbacher disease, but the two disorders have different genetic causes.Beginning in the first few months of life, infants with Pelizaeus-Merzbacher-like disease type 1 typically experience weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and delayed development of speech and motor skills, such as sitting or grasping objects. As children with Pelizaeus-Merzbacher-like disease type 1 get older, hypotonia changes to muscle stiffness (spasticity).During childhood, individuals with Pelizaeus-Merzbacher-like disease type 1 develop problems with movement and balance (ataxia), difficulty with movements that involve judging distance or scale (dysmetria), tremors that occur mainly during movement (intention tremors), and head and neck tremors (titubation). People with this condition have an inability to perform quick, alternating movements (dysdiadochokinesia), such as quickly tapping different fingers. Some develop involuntary tensing of the muscles (dystonia) and jerking (choreiform) movements. Many people with Pelizaeus-Merzbacher-like disease type 1 develop skeletal issues such as an abnormal curvature of the spine (scoliosis) and require wheelchair assistance from childhood.Muscle abnormalities can lead to difficulty swallowing and problems producing speech (expressive language), but affected individuals can understand speech (receptive language). Most individuals with Pelizaeus-Merzbacher-like disease type 1 have normal intelligence. Rarely, hearing loss, optic atrophy, and recurrent seizures (epilepsy) can occur.

MalaCards based summary : Leukodystrophy, Hypomyelinating, 2, also known as pmld1, is related to leukodystrophy, hypomyelinating, 4 and hypomyelinating leukodystrophy, and has symptoms including seizures, ataxia and head titubation. An important gene associated with Leukodystrophy, Hypomyelinating, 2 is GJC2 (Gap Junction Protein Gamma 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include spinal cord, brain and cerebellum, and related phenotypes are ataxia and dysarthria

Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has material basis in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.

UniProtKB/Swiss-Prot : 72 Leukodystrophy, hypomyelinating, 2: An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity.

More information from OMIM: 608804 PS312080
GeneReviews: NBK470716

Related Diseases for Leukodystrophy, Hypomyelinating, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy, hypomyelinating, 4 32.7 PLP1 GJC2
2 hypomyelinating leukodystrophy 32.2 PRODH PLP1 GJC2 GJB1
3 hypomyelinating leukoencephalopathy 30.7 PLP1 GJC2
4 spastic paraplegia 44, autosomal recessive 30.7 PLP1 GJC2 GJB1
5 pelizaeus-merzbacher-like disease 30.5 SNAP29 PLP1 GJC2 GJB1 GJA1
6 pelizaeus-merzbacher disease 30.4 SOX10 PLP1 GJC2
7 leukodystrophy 29.7 SOX10 SNAP29 PLP1 GJC2 GJB1 GJA1
8 leukodystrophy, hypomyelinating, 3 11.6
9 47,xyy 10.5
10 ataxia and polyneuropathy, adult-onset 10.4
11 scoliosis 10.4
12 pathologic nystagmus 10.4
13 hypotonia 10.4
14 spasticity 10.4
15 tremor 10.4
16 hereditary spastic paraplegia 10.3
17 congenital nystagmus 10.3
18 spastic ataxia 8 10.3 PLP1 GJC2
19 spastic paraplegia 75, autosomal recessive 10.3 PLP1 GJC2
20 leukodystrophy, hypomyelinating, 5 10.3 PLP1 GJC2
21 balo concentric sclerosis 10.3 GJC3 GJC2
22 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 10.3 PLP1 GJC2
23 hereditary neuropathies 10.3 PLP1 GJB1
24 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.2 SNAP29 PRODH
25 van den ende-gupta syndrome 10.2 SNAP29 PRODH
26 testicular thecoma 10.2 GJD3 GJC3
27 3-methylglutaconic aciduria, type iii 10.2
28 spastic paraplegia 2, x-linked 10.2
29 alacrima, achalasia, and mental retardation syndrome 10.2
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
31 autosomal recessive disease 10.2
32 movement disease 10.2
33 dystonia 10.2
34 paraplegia 10.2
35 dysphagia 10.2
36 charcot-marie-tooth disease type x 10.2 GJC3 GJC2 GJB1
37 t-cell immunodeficiency with thymic aplasia 10.2 SNAP29 PRODH
38 charcot-marie-tooth disease, x-linked dominant, 1 10.2 GJC3 GJC2 GJB1
39 allan-herndon-dudley syndrome 10.2
40 anxiety 10.2
41 sensorineural hearing loss 10.2
42 tubb4a-related leukodystrophy 10.2
43 athetosis 10.2
44 maternal uniparental disomy of chromosome 1 10.2
45 uniparental disomy of chromosome 1 10.2
46 maternal uniparental disomy 10.2
47 syndactyly, type iii 10.2 GJC1 GJA1
48 x-linked monogenic disease 10.2 PRODH PLP1 GJB1
49 pseudoainhum 10.1 GJB4 GJA1
50 erythrokeratoderma 10.1 GJB4 GJA1

Graphical network of the top 20 diseases related to Leukodystrophy, Hypomyelinating, 2:



Diseases related to Leukodystrophy, Hypomyelinating, 2

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 2

Human phenotypes related to Leukodystrophy, Hypomyelinating, 2:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 dysarthria 31 HP:0001260
3 facial palsy 31 HP:0010628
4 global developmental delay 31 HP:0001263
5 optic atrophy 31 HP:0000648
6 cognitive impairment 31 HP:0100543
7 myopia 31 HP:0000545
8 motor delay 31 HP:0001270
9 dystonia 31 HP:0001332
10 decreased motor nerve conduction velocity 31 HP:0003431
11 progressive spasticity 31 HP:0002191
12 babinski sign 31 HP:0003487
13 leukodystrophy 31 HP:0002415
14 rigidity 31 HP:0002063
15 choreoathetosis 31 HP:0001266
16 spastic paraparesis 31 HP:0002313
17 cerebral atrophy 31 HP:0002059
18 intention tremor 31 HP:0002080
19 muscular hypotonia of the trunk 31 HP:0008936
20 poor speech 31 HP:0002465
21 cerebral hypomyelination 31 HP:0006808
22 head titubation 31 HP:0002599
23 sensory axonal neuropathy 31 HP:0003390
24 demyelinating motor neuropathy 31 HP:0007220
25 rotary nystagmus 31 HP:0001583
26 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
ataxia
dysarthria
dystonia
rigidity
more
Head And Neck Head:
head titubation

Head And Neck Face:
facial weakness

Head And Neck Eyes:
optic atrophy
myopia
rotary nystagmus

Neurologic Peripheral Nervous System:
demyelinating motor neuropathy
axonal sensory neuropathy
decreased motor nerve conduction velocities (ncv)
peripheral neuropathy, mild (less common)

Clinical features from OMIM®:

608804 (Updated 05-Apr-2021)

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 2:


seizures; ataxia; head titubation; action tremor; muscle rigidity; facial paresis; paraparesis, spastic

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 ASPA GJA1 GJB1 GJB4 GJC1 GJC3
2 nervous system MP:0003631 9.44 ASPA GJA1 GJB1 GJC1 GJC2 GJC3

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 2

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 2

Genetic Tests for Leukodystrophy, Hypomyelinating, 2

Genetic tests related to Leukodystrophy, Hypomyelinating, 2:

# Genetic test Affiliating Genes
1 Leukodystrophy, Hypomyelinating, 2 29 GJC2

Anatomical Context for Leukodystrophy, Hypomyelinating, 2

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 2:

40
Spinal Cord, Brain, Cerebellum

Publications for Leukodystrophy, Hypomyelinating, 2

Articles related to Leukodystrophy, Hypomyelinating, 2:

(show all 44)
# Title Authors PMID Year
1
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form. 61 25 6 57
22669416 2013
2
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. 25 57 6
24374284 2014
3
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. 25 6 57
18094336 2008
4
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. 6 57 25
16969684 2007
5
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. 25 6 57
15192806 2004
6
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. 57 6
17031678 2007
7
Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease. 25 6
21246605 2012
8
Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease. 25 6
20695017 2010
9
Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease. 57 25
20513814 2010
10
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. 25 57
16707726 2006
11
Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398]. 6
27780564 2016
12
Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. 6
26354221 2015
13
Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans. 25 61
21750683 2011
14
Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease. 6
17344063 2007
15
Pelizaeus-Merzbacher-like disease: female case report. 6
8733901 1996
16
Consensus statement on preventive and symptomatic care of leukodystrophy patients. 25
25577286 2015
17
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25
25655951 2015
18
A new mutation in GJC2 associated with subclinical leukodystrophy. 25
25059390 2014
19
Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation. 25
23143715 2013
20
A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. 25
23684670 2013
21
The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions. 25
23544880 2013
22
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. 25
23582646 2013
23
Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease. 25
23142375 2013
24
"Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia. 25
22833003 2012
25
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. 25
21959080 2011
26
Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling. 25
21396451 2011
27
Magnetic resonance imaging pattern recognition in hypomyelinating disorders. 25
20881161 2010
28
Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction. 25
20442743 2010
29
Oligodendrocytes in mouse corpus callosum are coupled via gap junction channels formed by connexin47 and connexin32. 25
20468052 2010
30
GJC2 missense mutations cause human lymphedema. 25
20537300 2010
31
Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease. 25
19423250 2010
32
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. 25
19056803 2009
33
Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins. 25
18094232 2007
34
Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity. 25
17065440 2006
35
Expression of connexin47 in oligodendrocytes is regulated by the Sox10 transcription factor. 25
16822525 2006
36
Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS. 25
12805295 2003
37
Structural and functional diversity of connexin genes in the mouse and human genome. 25
12108537 2002
38
Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons. 25
11245683 2001
39
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease. 61
31270756 2019
40
Diseases of connexins expressed in myelinating glia. 61
28545922 2019
41
Pelizaeus-Merzbacher-Like Disease 1 61
29276893 2017
42
Inborn errors of brain myelin formation. 61
23622380 2013
43
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. 61
22422208 2012
44
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. 61
17881259 2008

Variations for Leukodystrophy, Hypomyelinating, 2

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 2:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJC2 NM_020435.4(GJC2):c.857T>C (p.Met286Thr) SNV Pathogenic 2071 rs74315311 GRCh37: 1:228346316-228346316
GRCh38: 1:228158615-228158615
2 GJC2 NM_020435.4(GJC2):c.268C>T (p.Pro90Ser) SNV Pathogenic 2072 rs74315312 GRCh37: 1:228345727-228345727
GRCh38: 1:228158026-228158026
3 GJC2 NM_020435.4(GJC2):c.989del (p.Pro330fs) Deletion Pathogenic 2073 rs796065027 GRCh37: 1:228346446-228346446
GRCh38: 1:228158745-228158745
4 GJC2 NM_020435.4(GJC2):c.718C>T (p.Arg240Ter) SNV Pathogenic 2074 rs74315313 GRCh37: 1:228346177-228346177
GRCh38: 1:228158476-228158476
5 GJC2 NM_020435.4(GJC2):c.814T>G (p.Tyr272Asp) SNV Pathogenic 2075 rs74315314 GRCh37: 1:228346273-228346273
GRCh38: 1:228158572-228158572
6 GJC2 NM_020435.4(GJC2):c.914_947del (p.Pro305fs) Deletion Pathogenic 2076 rs796065028 GRCh37: 1:228346360-228346393
GRCh38: 1:228158659-228158692
7 GJC2 NM_020435.4(GJC2):c.695_696insG (p.Tyr232Ter) Insertion Pathogenic 2077 rs796065029 GRCh37: 1:228346154-228346155
GRCh38: 1:228158453-228158454
8 GJC2 NM_020435.3(GJC2):c.-167A>G SNV Pathogenic 30759 rs587776888 GRCh37: 1:228337561-228337561
GRCh38: 1:228149860-228149860
9 GJC2 NM_020435.4(GJC2):c.787G>A (p.Glu263Lys) SNV Pathogenic 60683 rs397514734 GRCh37: 1:228346246-228346246
GRCh38: 1:228158545-228158545
10 GJC2 NM_020435.3(GJC2):c.-170A>G SNV Pathogenic 139577 rs587777496 GRCh37: 1:228337558-228337558
GRCh38: 1:228149857-228149857
11 GJC2 NM_020435.4(GJC2):c.575dup (p.Thr195fs) Duplication Pathogenic 873005 GRCh37:
GRCh38:
12 SNAP29 NM_004782.4(SNAP29):c.354dup (p.Leu119fs) Duplication Pathogenic 279932 rs751575036 GRCh37: 22:21224735-21224736
GRCh38: 22:20870447-20870448
13 SNAP29 NM_004782.4(SNAP29):c.2T>C (p.Met1Thr) SNV Pathogenic 279894 rs886041240 GRCh37: 22:21213400-21213400
GRCh38: 22:20859112-20859112
14 GJC2 NM_020435.4(GJC2):c.85_86dup (p.Val30fs) Duplication Pathogenic 571339 rs1558119445 GRCh37: 1:228345542-228345543
GRCh38: 1:228157841-228157842
15 GJC2 NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs) Deletion Likely pathogenic 656694 rs1571908452 GRCh37: 1:228346584-228346594
GRCh38: 1:228158883-228158893
16 GJC2 NM_020435.4(GJC2):c.49dup (p.His17fs) Duplication Likely pathogenic 983451 GRCh37: 1:228345506-228345507
GRCh38: 1:228157805-228157806
17 GJC2 NM_020435.4(GJC2):c.193_195del (p.Asn65del) Deletion Likely pathogenic 634512 rs1558119525 GRCh37: 1:228345650-228345652
GRCh38: 1:228157949-228157951
18 GJC2 NM_020435.4(GJC2):c.1155del (p.Arg386fs) Deletion Likely pathogenic 801629 rs1196278287 GRCh37: 1:228346609-228346609
GRCh38: 1:228158908-228158908
19 GJC2 NM_020435.4(GJC2):c.883C>T (p.Gln295Ter) SNV Likely pathogenic 870536 GRCh37: 1:228346342-228346342
GRCh38: 1:228158641-228158641
20 GJC2 NM_020435.4(GJC2):c.733T>A (p.Cys245Ser) SNV Likely pathogenic 872979 GRCh37:
GRCh38:
21 GJC2 NM_020435.4(GJC2):c.118G>C (p.Ala40Pro) SNV Likely pathogenic 872977 GRCh37:
GRCh38:
22 GJC2 NM_020435.4(GJC2):c.78del (p.Trp27fs) Deletion Likely pathogenic 266108 rs886039904 GRCh37: 1:228345537-228345537
GRCh38: 1:228157836-228157836
23 GJC2 NM_020435.4(GJC2):c.1175C>G (p.Ser392Cys) SNV Likely pathogenic 435326 rs1356633840 GRCh37: 1:228346634-228346634
GRCh38: 1:228158933-228158933
24 GJC2 NM_020435.4(GJC2):c.217C>A (p.Pro73Thr) SNV Likely pathogenic 801628 rs1330596542 GRCh37: 1:228345676-228345676
GRCh38: 1:228157975-228157975
25 GJC2 NM_020435.4(GJC2):c.445G>A (p.Gly149Ser) SNV Uncertain significance 695528 rs577325764 GRCh37: 1:228345904-228345904
GRCh38: 1:228158203-228158203
26 GJC2 NM_020435.4(GJC2):c.571_572insG (p.Thr191fs) Insertion Uncertain significance 981047 GRCh37: 1:228346030-228346031
GRCh38: 1:228158329-228158330
27 GJC2 NM_020435.4(GJC2):c.1096dup (p.Asp366fs) Duplication Uncertain significance 981049 GRCh37: 1:228346551-228346552
GRCh38: 1:228158850-228158851
28 GJC2 NM_020435.4(GJC2):c.907_923del (p.Gly303fs) Deletion Uncertain significance 932966 GRCh37: 1:228346362-228346378
GRCh38: 1:228158661-228158677
29 GJC2 NM_020435.4(GJC2):c.62C>T (p.Thr21Ile) SNV Uncertain significance 982030 GRCh37: 1:228345521-228345521
GRCh38: 1:228157820-228157820
30 GJC2 NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) SNV Uncertain significance 445910 rs200334298 GRCh37: 1:228346693-228346693
GRCh38: 1:228158992-228158992
31 GJC2 NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) SNV Uncertain significance 445910 rs200334298 GRCh37: 1:228346693-228346693
GRCh38: 1:228158992-228158992
32 GJC2 NM_020435.4(GJC2):c.768C>G (p.Cys256Trp) SNV Uncertain significance 800511 rs1571908096 GRCh37: 1:228346227-228346227
GRCh38: 1:228158526-228158526

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 2:

72
# Symbol AA change Variation ID SNP ID
1 GJC2 p.Pro90Ser VAR_023754 rs74315312
2 GJC2 p.Tyr272Asp VAR_023755 rs74315314
3 GJC2 p.Met286Thr VAR_023756 rs74315311

Expression for Leukodystrophy, Hypomyelinating, 2

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 2.

Pathways for Leukodystrophy, Hypomyelinating, 2

Pathways related to Leukodystrophy, Hypomyelinating, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 SNAP29 GJD3 GJC2 GJC1 GJB4 GJB1
2
Show member pathways
12.59 GJC2 GJC1 GJB4 GJB1 GJA1
3
Show member pathways
11.84 GJC2 GJC1 GJB4 GJB1 GJA1
4
Show member pathways
11.09 GJD3 GJC2 GJC1 GJB4 GJB1 GJA1
5
Show member pathways
10.21 GJB1 GJA1

GO Terms for Leukodystrophy, Hypomyelinating, 2

Cellular components related to Leukodystrophy, Hypomyelinating, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.7 GJD3 GJC3 GJC2 GJC1 GJB4 GJB1
2 mitochondrial outer membrane GO:0005741 9.5 VPS13A SOX10 GJA1
3 gap junction GO:0005921 9.5 GJD3 GJC3 GJC2 GJC1 GJB4 GJB1
4 myelin sheath GO:0043209 9.26 PLP1 GJC2
5 connexin complex GO:0005922 9.17 GJD3 GJC3 GJC2 GJC1 GJB4 GJB1

Biological processes related to Leukodystrophy, Hypomyelinating, 2 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 GJD3 GJC3 GJC2 GJC1 GJB4 GJB1
2 cell-cell signaling GO:0007267 9.7 GJD3 GJC3 GJC2 GJC1 GJB4 GJB1
3 positive regulation of vasoconstriction GO:0045907 9.51 SMTNL2 GJA1
4 central nervous system myelination GO:0022010 9.5 SOX10 PLP1 ASPA
5 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.49 GJD3 GJA1
6 atrial cardiac muscle cell action potential GO:0086014 9.48 GJC1 GJA1
7 cell communication by electrical coupling GO:0010644 9.46 GJC2 GJA1
8 epididymis development GO:1905867 9.43 GJB1 GJA1
9 AV node cell to bundle of His cell communication by electrical coupling GO:0086053 9.43 GJD3 GJC3 GJC1
10 positive regulation of calcium ion transmembrane transport GO:1904427 9.4 PLP1 GJC2
11 gap junction assembly GO:0016264 9.26 GJD3 GJC1 GJB1 GJA1
12 cell communication GO:0007154 9.17 GJD3 GJC3 GJC2 GJC1 GJB4 GJB1

Molecular functions related to Leukodystrophy, Hypomyelinating, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.26 GJC2 GJA1
2 gap junction channel activity GO:0005243 9.17 GJD3 GJC3 GJC2 GJC1 GJB4 GJB1
3 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.16 GJD3 GJA1
4 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling GO:0086077 9.13 GJD3 GJC3 GJC1

Sources for Leukodystrophy, Hypomyelinating, 2

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