HLD5
MCID: LKD009
MIFTS: 45

Leukodystrophy, Hypomyelinating, 5 (HLD5)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 5

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 5:

Name: Leukodystrophy, Hypomyelinating, 5 57 20 73 13
Hypomyelination and Congenital Cataract 25 20 43 29 6 39 71
Hld5 57 12 20 73
Hypomyelination-Congenital Cataract Syndrome 12 58
Hypomyelinating Leukodystrophy 5 12 15
Hcc 43 73
Hypomyelination and Congenital Cataract: Hcc 57
Hypomyelination with Congenital Cataract 73
Hypomyelination - Congenital Cataract 20

Characteristics:

Orphanet epidemiological data:

58
hypomyelination-congenital cataract syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
onset in infancy
variable severity


HPO:

31
leukodystrophy, hypomyelinating, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


GeneReviews:

25
Penetrance Penetrance is complete.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060793
OMIM® 57 610532
OMIM Phenotypic Series 57 PS312080
MeSH 44 D020279
ICD10 32 G37.8
ICD10 via Orphanet 33 G37.8
UMLS via Orphanet 72 C1864663
Orphanet 58 ORPHA85163
UMLS 71 C1864663

Summaries for Leukodystrophy, Hypomyelinating, 5

MedlinePlus Genetics : 43 Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination). Additionally, people with this disorder are typically born with a clouding of the lens (cataract) in both eyes.People with this condition usually have normal development throughout the first year of life. Development slows around the age of 1. Most affected children learn to walk between the ages of 1 and 2, although they usually need some type of support. Over time they experience muscle weakness and wasting (atrophy) in their legs, and many affected people eventually require wheelchair assistance. Weakness in the muscles of the trunk and a progressive abnormal curvature of the spine (scoliosis) further impair walking in some individuals. Most people with hypomyelination and congenital cataract have reduced sensation in their arms and legs (peripheral neuropathy). In addition, affected individuals typically have speech difficulties (dysarthria) and mild to moderate intellectual disability.

MalaCards based summary : Leukodystrophy, Hypomyelinating, 5, also known as hypomyelination and congenital cataract, is related to leukodystrophy and hepatocellular carcinoma, and has symptoms including action tremor, abnormal pyramidal signs and cerebellar signs. An important gene associated with Leukodystrophy, Hypomyelinating, 5 is FAM126A (Family With Sequence Similarity 126 Member A). Affiliated tissues include eye and cerebellum, and related phenotypes are abnormal pyramidal sign and global developmental delay

Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has material basis in homozygous mutation in the FAM126A gene on chromosome 7p15.

GARD : 20 Hypomyelination and congenital cataract is a very rare disease characterized by cloudy coverings of the eye that are present at birth (congenital cataracts) and neurologic impairment that becomes apparent after the first year of life. The neurologic impairment is progressive and presents as ataxia and spasticity. Affected individuals may lose the ability to walk. Signs and symptoms may vary but can include loss of sensation in the hands and feet (peripheral neuropathy), curvature of the spine (scoliosis), difficulty speaking (dysarthria), seizures, and moderate intellectual disability. Hypomyelination and congenital cataract is caused by a change (mutation ) in the FAM126A gene and is inherited in an autosomal recessive manner. Diagnosis of hypomyelination and congenital cataract is based on clinical findings of muscle weakness and cataracts, and a brain MRI that indicates a loss of the myelin surrounding the neurons. The diagnosis can be confirmed by genetic testing of the FAM126A gene. Treatment is focused on relieving symptoms of the condition and may include physical therapy, special education, and medication to treat seizures.

UniProtKB/Swiss-Prot : 73 Leukodystrophy, hypomyelinating, 5: A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed.

More information from OMIM: 610532 PS312080
GeneReviews: NBK2587

Related Diseases for Leukodystrophy, Hypomyelinating, 5

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

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy 29.3 PLP1 GJC2 FAM126A
2 hepatocellular carcinoma 11.7
3 fibrolamellar carcinoma 11.2
4 pediatric hepatocellular carcinoma 11.2
5 hepatitis c virus 11.0
6 thyroid carcinoma, hurthle cell 11.0
7 combined hepatocellular carcinoma and cholangiocarcinoma 10.9
8 liver cirrhosis 10.7
9 fatty liver disease 10.6
10 hepatitis b 10.6
11 non-alcoholic steatohepatitis 10.5
12 hepatitis 10.5
13 non-alcoholic fatty liver disease 10.5
14 hepatitis c 10.5
15 portal vein thrombosis 10.4
16 viral hepatitis 10.4
17 liver disease 10.4
18 thrombosis 10.4
19 cholangiocarcinoma 10.3
20 intrahepatic cholangiocarcinoma 10.3
21 portal hypertension 10.2
22 fibrosis of extraocular muscles, congenital, 1 10.2
23 severe combined immunodeficiency 10.2
24 hypoxia 10.2
25 ataxia and polyneuropathy, adult-onset 10.2
26 spasticity 10.2
27 alcohol use disorder 10.2
28 varicose veins 10.1
29 hepatitis d 10.1
30 body mass index quantitative trait locus 11 10.1
31 body mass index quantitative trait locus 9 10.1
32 body mass index quantitative trait locus 8 10.1
33 body mass index quantitative trait locus 4 10.1
34 body mass index quantitative trait locus 10 10.1
35 body mass index quantitative trait locus 7 10.1
36 body mass index quantitative trait locus 12 10.1
37 body mass index quantitative trait locus 14 10.1
38 body mass index quantitative trait locus 18 10.1
39 body mass index quantitative trait locus 19 10.1
40 47,xyy 10.1
41 48,xyyy 10.1
42 cytokine deficiency 10.1
43 scoliosis 10.1
44 polyneuropathy 10.1
45 hypotonia 10.1
46 tremor 10.1
47 chromosome 18q deletion syndrome 10.0 GJC2 ERCC6
48 type 2 diabetes mellitus 10.0
49 fatty liver disease, nonalcoholic 1 10.0
50 esophageal varix 10.0

Graphical network of the top 20 diseases related to Leukodystrophy, Hypomyelinating, 5:



Diseases related to Leukodystrophy, Hypomyelinating, 5

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 5

Human phenotypes related to Leukodystrophy, Hypomyelinating, 5:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
4 abnormal cerebellum morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001317
5 developmental cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000519
6 cerebral hypomyelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0006808
7 intellectual disability 31 HP:0001249
8 hyperreflexia 31 HP:0001347
9 scoliosis 31 HP:0002650
10 dysarthria 31 HP:0001260
11 motor delay 31 HP:0001270
12 decreased motor nerve conduction velocity 31 HP:0003431
13 babinski sign 31 HP:0003487
14 leukodystrophy 31 HP:0002415
15 polyneuropathy 31 HP:0001271
16 loss of ability to walk 31 HP:0006957
17 intention tremor 31 HP:0002080
18 muscular hypotonia of the trunk 31 HP:0008936
19 lower limb muscle weakness 31 HP:0007340
20 cerebral white matter atrophy 31 HP:0012762
21 lower limb amyotrophy 31 HP:0007210
22 onion bulb formation 31 HP:0003383
23 truncal titubation 31 HP:0030147
24 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
intention tremor
truncal titubation
cerebellar signs
more
Skeletal Spine:
scoliosis, progressive

Muscle Soft Tissue:
weakness and wasting of the lower limbs

Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased motor nerve conduction velocities
sural nerve biopsy shows decrease in myelinated fibers
loss of myelin
abnormal folding of the myelin sheath
more
Head And Neck Eyes:
cataracts, usually congenital

Clinical features from OMIM®:

610532 (Updated 05-Mar-2021)

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 5:


action tremor, abnormal pyramidal signs, cerebellar signs

GenomeRNAi Phenotypes related to Leukodystrophy, Hypomyelinating, 5 according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 9.44 ERCC6
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.44 TXNL4A
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.44 ERCC6
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 9.44 ERCC6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 9.44 ERCC6
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.44 TXNL4A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-188 9.44 ERCC6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.44 ERCC6
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.44 ERCC6
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 9.44 ERCC6
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.44 TXNL4A
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-44 9.44 ERCC6
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.44 ERCC6

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 ERCC6 FAM126A GJC2 GLB1 PLP1 RTTN
2 immune system MP:0005387 9.1 ERCC6 FAM126A GJC2 GLB1 PLP1 RTTN

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 5

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 5

Genetic Tests for Leukodystrophy, Hypomyelinating, 5

Genetic tests related to Leukodystrophy, Hypomyelinating, 5:

# Genetic test Affiliating Genes
1 Hypomyelination and Congenital Cataract 29 FAM126A

Anatomical Context for Leukodystrophy, Hypomyelinating, 5

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 5:

40
Eye, Cerebellum

Publications for Leukodystrophy, Hypomyelinating, 5

Articles related to Leukodystrophy, Hypomyelinating, 5:

(show all 13)
# Title Authors PMID Year
1
Hypomyelination and congenital cataract: broadening the clinical phenotype. 61 20 6 57 25
21911699 2011
2
A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract. 61 57 6 25
17928815 2008
3
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. 57 6 25 61
16951682 2006
4
Phenotypic characterization of hypomyelination and congenital cataract. 61 25 57
17683097 2007
5
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 25 61
26571211 2016
6
Novel FAM126A mutations in hypomyelination and congenital cataract disease. 61 25
23998934 2013
7
Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families. 25 61
22749724 2013
8
Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. 61 25
17974614 2008
9
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
10
Hypomyelination and Congenital Cataract: Three Siblings Presentation. 61
33531944 2020
11
Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant. 61
32162147 2020
12
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein. 61
22461884 2012
13
Hypomyelination and Congenital Cataract 61
20301737 2008

Variations for Leukodystrophy, Hypomyelinating, 5

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 5:

6 (show top 50) (show all 148)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAM126A FAM126A, 4-KB DEL Deletion Pathogenic 1217
2 FAM126A NM_032581.4(FAM126A):c.51+1G>A SNV Pathogenic 1214 rs72549405 7:23030679-23030679 7:22991060-22991060
3 FAM126A NM_032581.4(FAM126A):c.414+1G>T SNV Pathogenic 1215 rs72549406 7:23016959-23016959 7:22977340-22977340
4 FAM126A NM_032581.4(FAM126A):c.158T>C (p.Leu53Pro) SNV Pathogenic 1216 rs72549407 7:23018063-23018063 7:22978444-22978444
5 FAM126A FAM126A:c.627-439_831+348del Deletion Pathogenic 21725 7:23000506-23004589 7:22960887-22964970
6 FAM126A NM_032581.4(FAM126A):c.100_101del (p.Lys34fs) Deletion Likely pathogenic 635049 rs1562502139 7:23023615-23023616 7:22983996-22983997
7 FAM126A NM_032581.4(FAM126A):c.1044C>T (p.Asp348=) SNV Conflicting interpretations of pathogenicity 732823 rs768075744 7:22985730-22985730 7:22946111-22946111
8 FAM126A NM_032581.4(FAM126A):c.582C>T (p.Tyr194=) SNV Conflicting interpretations of pathogenicity 767086 rs148453182 7:23015873-23015873 7:22976254-22976254
9 FAM126A NM_032581.4(FAM126A):c.1397C>T (p.Pro466Leu) SNV Uncertain significance 468354 rs762851762 7:22985377-22985377 7:22945758-22945758
10 FAM126A NM_032581.4(FAM126A):c.1184A>G (p.Glu395Gly) SNV Uncertain significance 536256 rs972215357 7:22985590-22985590 7:22945971-22945971
11 FAM126A NM_032581.4(FAM126A):c.932G>A (p.Arg311Gln) SNV Uncertain significance 573690 rs148168726 7:22999934-22999934 7:22960315-22960315
12 FAM126A NM_032581.4(FAM126A):c.972T>G (p.Gly324=) SNV Uncertain significance 706630 rs200916070 7:22999894-22999894 7:22960275-22960275
13 FAM126A NC_000007.14:g.23014152G>A SNV Uncertain significance 910145 7:23053771-23053771 7:23014152-23014152
14 FAM126A NC_000007.14:g.(?_22964395)_(22991131_?)del Deletion Uncertain significance 583585 7:23004014-23030750 7:22964395-22991131
15 FAM126A NM_032581.4(FAM126A):c.302T>C (p.Ile101Thr) SNV Uncertain significance 377197 rs780427026 7:23017919-23017919 7:22978300-22978300
16 FAM126A NM_032581.4(FAM126A):c.*1382G>A SNV Uncertain significance 908063 7:22983826-22983826 7:22944207-22944207
17 FAM126A NM_032581.4(FAM126A):c.*1358C>G SNV Uncertain significance 908064 7:22983850-22983850 7:22944231-22944231
18 FAM126A NM_032581.4(FAM126A):c.*1319T>C SNV Uncertain significance 908065 7:22983889-22983889 7:22944270-22944270
19 FAM126A NM_032581.4(FAM126A):c.*1059G>A SNV Uncertain significance 908066 7:22984149-22984149 7:22944530-22944530
20 FAM126A NM_032581.4(FAM126A):c.*66G>A SNV Uncertain significance 908129 7:22985142-22985142 7:22945523-22945523
21 FAM126A NM_032581.4(FAM126A):c.1479C>T (p.Tyr493=) SNV Uncertain significance 908130 7:22985295-22985295 7:22945676-22945676
22 FAM126A NM_032581.4(FAM126A):c.379A>T (p.Ile127Phe) SNV Uncertain significance 908203 7:23016995-23016995 7:22977376-22977376
23 FAM126A NM_032581.4(FAM126A):c.154-7C>T SNV Uncertain significance 908204 7:23018074-23018074 7:22978455-22978455
24 FAM126A NM_032581.4(FAM126A):c.-89C>T SNV Uncertain significance 908205 7:23053604-23053604 7:23013985-23013985
25 FAM126A NM_032581.4(FAM126A):c.*3167T>G SNV Uncertain significance 909099 7:22982041-22982041 7:22942422-22942422
26 FAM126A NM_032581.4(FAM126A):c.*646T>C SNV Uncertain significance 910022 7:22984562-22984562 7:22944943-22944943
27 FAM126A NM_032581.4(FAM126A):c.*622G>A SNV Uncertain significance 910023 7:22984586-22984586 7:22944967-22944967
28 FAM126A NM_032581.4(FAM126A):c.1238C>T (p.Ala413Val) SNV Uncertain significance 910078 7:22985536-22985536 7:22945917-22945917
29 FAM126A NM_032581.4(FAM126A):c.1148G>A (p.Arg383Gln) SNV Uncertain significance 910079 7:22985626-22985626 7:22946007-22946007
30 FAM126A NM_032581.4(FAM126A):c.1135A>G (p.Lys379Glu) SNV Uncertain significance 910080 7:22985639-22985639 7:22946020-22946020
31 FAM126A NM_032581.4(FAM126A):c.*2060A>G SNV Uncertain significance 910854 7:22983148-22983148 7:22943529-22943529
32 FAM126A NM_032581.4(FAM126A):c.*1773C>T SNV Uncertain significance 910855 7:22983435-22983435 7:22943816-22943816
33 FAM126A NM_032581.4(FAM126A):c.*3046G>A SNV Uncertain significance 909101 7:22982162-22982162 7:22942543-22942543
34 FAM126A NM_032581.4(FAM126A):c.*2878T>G SNV Uncertain significance 909102 7:22982330-22982330 7:22942711-22942711
35 FAM126A NM_032581.4(FAM126A):c.*2654G>A SNV Uncertain significance 909956 7:22982554-22982554 7:22942935-22942935
36 FAM126A NM_032581.4(FAM126A):c.*2286G>A SNV Uncertain significance 909957 7:22982922-22982922 7:22943303-22943303
37 FAM126A NM_032581.4(FAM126A):c.*2081T>C SNV Uncertain significance 909958 7:22983127-22983127 7:22943508-22943508
38 FAM126A NM_032581.4(FAM126A):c.*940A>G SNV Uncertain significance 910020 7:22984268-22984268 7:22944649-22944649
39 FAM126A NM_032581.4(FAM126A):c.*506A>C SNV Uncertain significance 910913 7:22984702-22984702 7:22945083-22945083
40 FAM126A NM_032581.4(FAM126A):c.*452G>T SNV Uncertain significance 910914 7:22984756-22984756 7:22945137-22945137
41 FAM126A NM_032581.4(FAM126A):c.*416G>A SNV Uncertain significance 910915 7:22984792-22984792 7:22945173-22945173
42 FAM126A NM_032581.4(FAM126A):c.968G>A (p.Arg323Lys) SNV Uncertain significance 910977 7:22999898-22999898 7:22960279-22960279
43 FAM126A NM_032581.4(FAM126A):c.831+10T>C SNV Uncertain significance 910978 7:23000844-23000844 7:22961225-22961225
44 FAM126A NM_032581.4(FAM126A):c.*3798A>G SNV Uncertain significance 912014 7:22981410-22981410 7:22941791-22941791
45 FAM126A NM_032581.4(FAM126A):c.*3739A>G SNV Uncertain significance 912017 7:22981469-22981469 7:22941850-22941850
46 FAM126A NM_032581.4(FAM126A):c.*3575A>G SNV Uncertain significance 912018 7:22981633-22981633 7:22942014-22942014
47 FAM126A NM_032581.4(FAM126A):c.*3278G>A SNV Uncertain significance 912019 7:22981930-22981930 7:22942311-22942311
48 FAM126A NM_032581.4(FAM126A):c.*1750G>A SNV Uncertain significance 912072 7:22983458-22983458 7:22943839-22943839
49 FAM126A NM_032581.4(FAM126A):c.*1443G>A SNV Uncertain significance 912073 7:22983765-22983765 7:22944146-22944146
50 FAM126A NM_032581.4(FAM126A):c.*314T>C SNV Uncertain significance 912143 7:22984894-22984894 7:22945275-22945275

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 5:

73
# Symbol AA change Variation ID SNP ID
1 FAM126A p.Leu53Pro VAR_030647 rs72549407
2 FAM126A p.Cys57Arg VAR_075100

Expression for Leukodystrophy, Hypomyelinating, 5

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 5.

Pathways for Leukodystrophy, Hypomyelinating, 5

GO Terms for Leukodystrophy, Hypomyelinating, 5

Cellular components related to Leukodystrophy, Hypomyelinating, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelin sheath GO:0043209 8.62 PLP1 GJC2

Biological processes related to Leukodystrophy, Hypomyelinating, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.33 PLP1 GJC2 ERCC6
2 neuron projection development GO:0031175 9.32 PLP1 ERCC6
3 response to toxic substance GO:0009636 9.26 GJC2 ERCC6
4 myelination GO:0042552 8.96 PLP1 FAM126A
5 positive regulation of calcium ion transmembrane transport GO:1904427 8.62 PLP1 GJC2

Sources for Leukodystrophy, Hypomyelinating, 5

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