Leukodystrophy, Hypomyelinating, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 2

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 2:

Name: Leukodystrophy, Hypomyelinating, 2 ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Pmld1 ⁵⁷ ¹² ²⁴ ²⁵ ⁵⁹ ⁷⁵

Hld2 ⁵⁷ ¹² ²⁴ ²⁵ ⁷⁵

Hypomyelinating Leukodystrophy 2 ¹² ²⁴ ²⁵ ¹⁵

Pelizaeus-Merzbacher-Like Disease Due to Gjc2 Mutation ¹² ⁵⁹

Pelizaeus-Merzbacher-Like Disease Type 1 ²⁵ ⁷⁵

Pelizaeus-Merzbacher-Like Disease 1 ¹² ²⁴

Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1 ⁷⁵

Pelizaeus-Merzbacher-Like Disease, 1; Pmld1 ⁵⁷

Leukodystrophy, Hypomyelinating, Type 2 ) ⁴⁰

Pmld - Pelizaeus Merzbacher Like Disease ²⁵

Pelizaeus-Merzbacher-Like Disease, 1 ⁵⁷

Pelizaeus-Merzbacher-Like Disease ²⁵

Pelizaeus Merzbacher Like Disease ²⁵

Pmldar1 ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Other sphingolipidosis

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 608804

Disease Ontology ¹² DOID:0060787

ICD10 ³³ E75.2

Orphanet ⁵⁹ ORPHA280282

ICD10 via Orphanet ³⁴ E75.2

UMLS via Orphanet ⁷⁴ C1837355

MedGen ⁴² C1837355

MeSH ⁴⁴ D020279

UMLS ⁷³ C1837355

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Summaries for Leukodystrophy, Hypomyelinating, 2

Genetics Home Reference : ²⁵ 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.

MalaCards based summary : Leukodystrophy, Hypomyelinating, 2, also known as pmld1, is related to leukodystrophy, hypomyelinating, 4 and pelizaeus-merzbacher-like disease, and has symptoms including seizures, ataxia and action tremor. An important gene associated with Leukodystrophy, Hypomyelinating, 2 is GJC2 (Gap Junction Protein Gamma 2), and among its related pathways/superpathways is Glial Cell Differentiation. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are seizures and ataxia

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 : ⁷⁵ 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.

Description from OMIM: 608804

GeneReviews: NBK470716

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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

Diseases related to Leukodystrophy, Hypomyelinating, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)

#	Related Disease	Score	Top Affiliating Genes
1	leukodystrophy, hypomyelinating, 4	32.9	GJC2 PLP1
2	pelizaeus-merzbacher-like disease	30.9	GJB1 GJC2 PLP1 SNAP29
3	pelizaeus-merzbacher disease	30.6	GJC2 MBP PLP1
4	leukodystrophy, hypomyelinating, 3	11.8
5	anxiety	10.4
6	cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	10.2	PI4KA SNAP29
7	charcot-marie-tooth disease, x-linked dominant, 1	10.2	GJB1 GJC2
8	hypomyelinating leukoencephalopathy	10.2	GJC2 PLP1
9	spastic paraplegia 2, x-linked	10.2	GJC2 PLP1
10	neurodegeneration with brain iron accumulation 2b	10.2	FA2H PANK2
11	neurodegeneration with brain iron accumulation 2a	10.1	FA2H PANK2
12	chromosome 18q deletion syndrome	10.1	GJC2 MBP
13	leukodystrophy	10.1	FA2H GJC2 PLP1
14	allergic encephalomyelitis	10.1	MBP PLP1
15	hypomyelinating leukodystrophy	10.1	GJB1 GJC2 PLP1
16	hallermann-streiff syndrome	10.1	GJB1 GJC2
17	cerebral degeneration	10.1	FA2H GJC2 PLP1
18	neurodegeneration with brain iron accumulation 6	10.1	PANK2 VPS13A
19	extratemporal epilepsy	10.1	PLP1 TOR1A
20	oromandibular dystonia	10.1	GCH1 TOR1A
21	neurodegeneration with brain iron accumulation 3	10.1	FA2H JPH3 PANK2
22	segmental dystonia	10.1	GCH1 TOR1A
23	early-onset generalized dystonia	10.1	GCH1 TOR1A
24	neurodegeneration with brain iron accumulation	10.1	FA2H PANK2 VPS13A
25	choreoacanthocytosis	10.0	HCCS JPH3 VPS13A
26	focal hand dystonia	10.0	PANK2 TOR1A
27	thiamine metabolism dysfunction syndrome 2	10.0	GCH1 TOR1A
28	blepharospasm	10.0	GCH1 TOR1A
29	dystonia 1, torsion, autosomal dominant	10.0	GCH1 TOR1A
30	cervical dystonia	10.0	GCH1 TOR1A
31	hemidystonia	10.0	GCH1 TOR1A
32	neuroaxonal dystrophy	10.0	FA2H MBP PANK2
33	hereditary spastic paraplegia	10.0	FA2H GJC2 PLP1
34	neurodegeneration with brain iron accumulation 1	10.0	FA2H JPH3 PANK2 VPS13A
35	dystonia 12	10.0	GCH1 PANK2 TOR1A
36	huntington disease-like 2	9.9	HTT JPH3 VPS13A
37	choreatic disease	9.9	HTT JPH3 VPS13A
38	dystonia, dopa-responsive	9.9	GCH1 TOR1A
39	dystonia 11, myoclonic	9.8	GCH1 TOR1A
40	dystonia	9.8	FA2H GCH1 PANK2 TOR1A
41	central nervous system disease	9.8	HTT MBP PLP1
42	movement disease	9.7	GCH1 HTT PANK2 TOR1A

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

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Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
seizures
ataxia
dysarthria
dystonia
rigidity
more

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

Head And Neck Head:
head titubation

Head And Neck Eyes:
optic atrophy
myopia
rotary nystagmus

Head And Neck Face:
facial weakness

Clinical features from OMIM:

608804

Human phenotypes related to Leukodystrophy, Hypomyelinating, 2:

³² (show all 26)

#	Description	HPO Source Accession
1	seizures ³²	HP:0001250
2	ataxia ³²	HP:0001251
3	dysarthria ³²	HP:0001260
4	facial palsy ³²	HP:0010628
5	global developmental delay ³²	HP:0001263
6	optic atrophy ³²	HP:0000648
7	cognitive impairment ³²	HP:0100543
8	myopia ³²	HP:0000545
9	babinski sign ³²	HP:0003487
10	intention tremor ³²	HP:0002080
11	sensory axonal neuropathy ³²	HP:0003390
12	dystonia ³²	HP:0001332
13	decreased motor nerve conduction velocity ³²	HP:0003431
14	motor delay ³²	HP:0001270
15	rigidity ³²	HP:0002063
16	choreoathetosis ³²	HP:0001266
17	progressive spasticity ³²	HP:0002191
18	cerebral atrophy ³²	HP:0002059
19	leukodystrophy ³²	HP:0002415
20	spastic paraparesis ³²	HP:0002313
21	poor speech ³²	HP:0002465
22	muscular hypotonia of the trunk ³²	HP:0008936
23	demyelinating motor neuropathy ³²	HP:0007220
24	cerebral hypomyelination ³²	HP:0006808
25	head titubation ³²	HP:0002599
26	rotary nystagmus ³²	HP:0001583

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 2:

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

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Moderately decreased NFAT1-GFP nuclear translocation	GR00359-A	9.02	HTT MBP NRAS PI4KA VPS13A

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.29	FA2H GJB1 GJC2 HTT JPH3 MBP
2	cellular	MP:0005384	10.2	GJB1 GJC2 HCCS HTT MBP NRAS
3	growth/size/body region	MP:0005378	10.17	GJB1 HCCS HTT JPH3 MBP NRAS
4	homeostasis/metabolism	MP:0005376	10.11	FA2H GCH1 GJB1 HCCS HTT MBP
5	mortality/aging	MP:0010768	10.07	GCH1 GJB1 GJC2 HCCS HTT JPH3
6	hematopoietic system	MP:0005397	10.06	GJB1 GJC2 HTT MBP NRAS PANK2
7	immune system	MP:0005387	9.97	GJB1 GJC2 HTT MBP NRAS PANK2
8	nervous system	MP:0003631	9.9	FA2H GCH1 GJB1 GJC2 HTT JPH3
9	normal	MP:0002873	9.5	GJC2 HCCS HTT MBP NRAS PI4KA
10	vision/eye	MP:0005391	9.23	FA2H GJB1 GJC2 MBP NRAS PANK2

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Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 2

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

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Genetic Tests for Leukodystrophy, Hypomyelinating, 2

Genetic tests related to Leukodystrophy, Hypomyelinating, 2:

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

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Anatomical Context for Leukodystrophy, Hypomyelinating, 2

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

⁴¹

Brain, Spinal Cord, Eye

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Publications for Leukodystrophy, Hypomyelinating, 2

Articles related to Leukodystrophy, Hypomyelinating, 2:

#	Title	Authors	Year
1	Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. ( 22422208 )	Hobson G.M....Garbern J.Y.	2012
2	Pelizaeus-Merzbacher-Like Disease 1 ( 29276893 )		1993

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Genes for Leukodystrophy, Hypomyelinating, 2

Genes/enhancers related to Leukodystrophy, Hypomyelinating, 2 (2 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GJC2	Gap Junction Protein Gamma 2	Protein Coding	1686.89	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	15192806 17344063 29276893 (more) 16969684 17031678 18094336 8733901 20695017 21246605 27780564 22669416
1	GJC2::GH01J228147	TSS distance: +0.6kb Elite enhancer with elite association with GJC2			Curated enhancer-disease association ²³ ( 27569544 )	20695017
2	SNAP29	Synaptosome Associated Protein 29	Protein Coding	417.79	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	29276893
3	PI4KA	Phosphatidylinositol 4-Kinase Alpha	Protein Coding	17.44	GeneCards inferred via : Variants (show sections)
4	JPH3	Junctophilin 3	Protein Coding	16.58	DISEASES inferred ¹⁵
5	PLP1	Proteolipid Protein 1	Protein Coding	16.25	DISEASES inferred ¹⁵
6	GJB1	Gap Junction Protein Beta 1	Protein Coding	16.1	DISEASES inferred ¹⁵
7	VPS13A	Vacuolar Protein Sorting 13 Homolog A	Protein Coding	15.09	DISEASES inferred ¹⁵
8	FA2H	Fatty Acid 2-Hydroxylase	Protein Coding	14.78	DISEASES inferred ¹⁵
9	PANK2	Pantothenate Kinase 2	Protein Coding	14.71	DISEASES inferred ¹⁵
10	GCH1	GTP Cyclohydrolase 1	Protein Coding	14.48	DISEASES inferred ¹⁵
11	HCCS	Holocytochrome C Synthase	Protein Coding	14	DISEASES inferred ¹⁵
12	TOR1A	Torsin Family 1 Member A	Protein Coding	13.73	DISEASES inferred ¹⁵
13	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	13.61	DISEASES inferred ¹⁵
14	HTT	Huntingtin	Protein Coding	13.48	DISEASES inferred ¹⁵
15	MBP	Myelin Basic Protein	Protein Coding	13.12	DISEASES inferred ¹⁵

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Variations for Leukodystrophy, Hypomyelinating, 2

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

⁷⁵

#	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

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 2:

⁶ (show all 30)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GJC2	NM_020435.3(GJC2): c.857T> C (p.Met286Thr)	single nucleotide variant	Pathogenic	rs74315311	GRCh37	Chromosome 1, 228346316: 228346316
2	GJC2	NM_020435.3(GJC2): c.857T> C (p.Met286Thr)	single nucleotide variant	Pathogenic	rs74315311	GRCh38	Chromosome 1, 228158615: 228158615
3	GJC2	NM_020435.3(GJC2): c.268C> T (p.Pro90Ser)	single nucleotide variant	Pathogenic	rs74315312	GRCh37	Chromosome 1, 228345727: 228345727
4	GJC2	NM_020435.3(GJC2): c.268C> T (p.Pro90Ser)	single nucleotide variant	Pathogenic	rs74315312	GRCh38	Chromosome 1, 228158026: 228158026
5	GJC2	NM_020435.3(GJC2): c.989delC (p.Pro330Argfs)	deletion	Pathogenic	rs796065027	GRCh38	Chromosome 1, 228158747: 228158747
6	GJC2	NM_020435.3(GJC2): c.989delC (p.Pro330Argfs)	deletion	Pathogenic	rs796065027	GRCh37	Chromosome 1, 228346448: 228346448
7	GJC2	NM_020435.3(GJC2): c.718C> T (p.Arg240Ter)	single nucleotide variant	Pathogenic	rs74315313	GRCh37	Chromosome 1, 228346177: 228346177
8	GJC2	NM_020435.3(GJC2): c.718C> T (p.Arg240Ter)	single nucleotide variant	Pathogenic	rs74315313	GRCh38	Chromosome 1, 228158476: 228158476
9	GJC2	NM_020435.3(GJC2): c.814T> G (p.Tyr272Asp)	single nucleotide variant	Pathogenic	rs74315314	GRCh37	Chromosome 1, 228346273: 228346273
10	GJC2	NM_020435.3(GJC2): c.814T> G (p.Tyr272Asp)	single nucleotide variant	Pathogenic	rs74315314	GRCh38	Chromosome 1, 228158572: 228158572
11	GJC2	NM_020435.3(GJC2): c.914_947del34 (p.Pro305Argfs)	deletion	Pathogenic	rs796065028	GRCh38	Chromosome 1, 228158672: 228158705
12	GJC2	NM_020435.3(GJC2): c.914_947del34 (p.Pro305Argfs)	deletion	Pathogenic	rs796065028	GRCh37	Chromosome 1, 228346373: 228346406
13	GJC2	NM_020435.3(GJC2): c.695_696insG (p.Tyr232Terfs)	insertion	Pathogenic	rs796065029	GRCh38	Chromosome 1, 228158453: 228158454
14	GJC2	NM_020435.3(GJC2): c.695_696insG (p.Tyr232Terfs)	insertion	Pathogenic	rs796065029	GRCh37	Chromosome 1, 228346154: 228346155
15	GJC2	NM_020435.3(GJC2): c.-167A> G	single nucleotide variant	Pathogenic	rs587776888	GRCh37	Chromosome 1, 228337561: 228337561
16	GJC2	NM_020435.3(GJC2): c.-167A> G	single nucleotide variant	Pathogenic	rs587776888	GRCh38	Chromosome 1, 228149860: 228149860
17	GJC2	NM_020435.3(GJC2): c.787G> A (p.Glu263Lys)	single nucleotide variant	Pathogenic	rs397514734	GRCh37	Chromosome 1, 228346246: 228346246
18	GJC2	NM_020435.3(GJC2): c.787G> A (p.Glu263Lys)	single nucleotide variant	Pathogenic	rs397514734	GRCh38	Chromosome 1, 228158545: 228158545
19	GJC2	NM_020435.3(GJC2): c.-170A> G	single nucleotide variant	Pathogenic	rs587777496	GRCh37	Chromosome 1, 228337558: 228337558
20	GJC2	NM_020435.3(GJC2): c.-170A> G	single nucleotide variant	Pathogenic	rs587777496	GRCh38	Chromosome 1, 228149857: 228149857
21	GJC2	NM_020435.3(GJC2): c.78delG (p.Trp27Glyfs)	deletion	Likely pathogenic	rs886039904	GRCh37	Chromosome 1, 228345537: 228345537
22	GJC2	NM_020435.3(GJC2): c.78delG (p.Trp27Glyfs)	deletion	Likely pathogenic	rs886039904	GRCh38	Chromosome 1, 228157836: 228157836
23	SNAP29	NM_004782.3(SNAP29): c.2T> C (p.Met1Thr)	single nucleotide variant	Pathogenic	rs886041240	GRCh37	Chromosome 22, 21213400: 21213400
24	SNAP29	NM_004782.3(SNAP29): c.2T> C (p.Met1Thr)	single nucleotide variant	Pathogenic	rs886041240	GRCh38	Chromosome 22, 20859112: 20859112
25	SNAP29	NM_004782.3(SNAP29): c.354dupG (p.Leu119Alafs)	duplication	Pathogenic	rs886041263	GRCh37	Chromosome 22, 21224741: 21224741
26	SNAP29	NM_004782.3(SNAP29): c.354dupG (p.Leu119Alafs)	duplication	Pathogenic	rs886041263	GRCh38	Chromosome 22, 20870453: 20870453
27	GJC2	NM_020435.3(GJC2): c.1175C> G (p.Ser392Cys)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 1, 228346634: 228346634
28	GJC2	NM_020435.3(GJC2): c.1175C> G (p.Ser392Cys)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 1, 228158933: 228158933
29	GJC2	NM_020435.3(GJC2): c.1234C> T (p.His412Tyr)	single nucleotide variant	Uncertain significance	rs200334298	GRCh37	Chromosome 1, 228346693: 228346693
30	GJC2	NM_020435.3(GJC2): c.1234C> T (p.His412Tyr)	single nucleotide variant	Uncertain significance	rs200334298	GRCh38	Chromosome 1, 228158992: 228158992

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Expression for Leukodystrophy, Hypomyelinating, 2

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

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Pathways for Leukodystrophy, Hypomyelinating, 2

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

#	Super pathways	Score	Top Affiliating Genes
1	Glial Cell Differentiation ¹	9.53	MBP PLP1

Sources

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	membrane	GO:0016020	9.93	FA2H GJB1 GJC2 HCCS JPH3 MBP
2	gap junction	GO:0005921	9.26	GJB1 GJC2
3	myelin sheath	GO:0043209	9.13	GJC2 MBP PLP1
4	connexin complex	GO:0005922	8.62	GJB1 GJC2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	axon ensheathment	GO:0008366	8.62	MBP PLP1

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	GO:0005243	8.96	GJB1 GJC2
2	structural constituent of myelin sheath	GO:0019911	8.62	MBP PLP1

Sources

Sources for Leukodystrophy, Hypomyelinating, 2

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⁴¹ MalaCards

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⁵⁵ Novoseek

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⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

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⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Leukodystrophy, Hypomyelinating, 2 (HLD2)

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 2

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 2:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Leukodystrophy, Hypomyelinating, 2

Related Diseases for Leukodystrophy, Hypomyelinating, 2

Diseases in the Hypomyelinating Leukodystrophy family:

Diseases related to Leukodystrophy, Hypomyelinating, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 2

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Leukodystrophy, Hypomyelinating, 2:

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 2:

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

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 2:

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 2

Genetic Tests for Leukodystrophy, Hypomyelinating, 2

Genetic tests related to Leukodystrophy, Hypomyelinating, 2:

Anatomical Context for Leukodystrophy, Hypomyelinating, 2

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

Publications for Leukodystrophy, Hypomyelinating, 2

Articles related to Leukodystrophy, Hypomyelinating, 2:

Genes for Leukodystrophy, Hypomyelinating, 2

Genes/enhancers related to Leukodystrophy, Hypomyelinating, 2 (2 elite genes):

Variations for Leukodystrophy, Hypomyelinating, 2

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

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 2:

Expression for Leukodystrophy, Hypomyelinating, 2

Pathways for Leukodystrophy, Hypomyelinating, 2

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

GO Terms for Leukodystrophy, Hypomyelinating, 2

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

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

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

Sources for Leukodystrophy, Hypomyelinating, 2