HLD5
MCID: LKD009
MIFTS: 46

Leukodystrophy, Hypomyelinating, 5 (HLD5)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 5

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 5:

Name: Leukodystrophy, Hypomyelinating, 5 56 52 73 13
Hypomyelination and Congenital Cataract 24 52 25 29 6 39 71
Hld5 56 12 52 73
Hypomyelination-Congenital Cataract Syndrome 12 58
Hypomyelinating Leukodystrophy 5 12 15
Hcc 25 73
Hypomyelination and Congenital Cataract: Hcc 56
Hypomyelination with Congenital Cataract 73
Hypomyelination - Congenital Cataract 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

24
Penetrance Penetrance is complete.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060793
OMIM 56 610532
OMIM Phenotypic Series 56 PS312080
MeSH 43 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

Genetics Home Reference : 25 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, brain and testes, and related phenotypes are global developmental delay and abnormal pyramidal sign

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.

NIH Rare Diseases : 52 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

Diseases related to Leukodystrophy, Hypomyelinating, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 220)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy 29.0 PLP1 GJC2 FAM126A ERCC6
2 hepatocellular carcinoma 12.4
3 fibrolamellar carcinoma 12.0
4 linear skin defects with multiple congenital anomalies 1 11.8
5 hepatitis c virus 11.6
6 pediatric hepatocellular carcinoma 11.5
7 thyroid carcinoma, hurthle cell 11.3
8 combined hepatocellular carcinoma and cholangiocarcinoma 11.2
9 cardiomyopathy, infantile histiocytoid 11.2
10 liver cirrhosis 10.9
11 liver disease 10.8
12 fatty liver disease 10.7
13 non-alcoholic fatty liver disease 10.6
14 non-alcoholic steatohepatitis 10.6
15 hepatitis b 10.6
16 portal vein thrombosis 10.5
17 viral hepatitis 10.5
18 hepatitis c 10.5
19 cholangiocarcinoma 10.4
20 intrahepatic cholangiocarcinoma 10.4
21 portal hypertension 10.3
22 thrombosis 10.3
23 alcohol use disorder 10.3
24 severe combined immunodeficiency 10.3
25 varicose veins 10.2
26 hepatitis 10.2
27 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
28 spasticity 10.2
29 neutropenia 10.2
30 hepatitis d 10.2
31 fatty liver disease, nonalcoholic 1 10.1
32 microphthalmia 10.1
33 esophageal varix 10.1
34 tetanus 10.1
35 primary biliary cirrhosis 10.1
36 hepatic coma 10.1
37 thrombocytopenia 10.1
38 autoimmune hepatitis 10.1
39 hemangioma 10.1
40 bilirubin metabolic disorder 10.1
41 adenoma 10.1
42 47,xyy 10.1
43 cytokine deficiency 10.1
44 hypoxia 10.1
45 alcohol dependence 10.0
46 proteasome-associated autoinflammatory syndrome 1 10.0
47 sclerocornea 10.0
48 hepatic encephalopathy 10.0
49 obstructive jaundice 10.0
50 vaccinia 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 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
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 scoliosis 31 HP:0002650
9 hyperreflexia 31 HP:0001347
10 motor delay 31 HP:0001270
11 dysarthria 31 HP:0001260
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:

56
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
Skeletal Spine:
scoliosis, progressive

Muscle Soft Tissue:
weakness and wasting of the lower limbs

Neurologic Central Nervous System:
hyperreflexia
dysarthria
intention tremor
truncal titubation
cerebellar signs
more
Head And Neck Eyes:
cataracts, usually congenital

Clinical features from OMIM:

610532

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 CABLES1 ERCC6 FAM126A GJC2 GLB1 PLP1
2 hematopoietic system MP:0005397 9.63 ERCC6 FAM126A GJC2 GLB1 PLP1 RTTN
3 immune system MP:0005387 9.43 ERCC6 FAM126A GJC2 GLB1 PLP1 RTTN
4 nervous system MP:0003631 9.1 CABLES1 ERCC6 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, Brain, Testes, Cerebellum

Publications for Leukodystrophy, Hypomyelinating, 5

Articles related to Leukodystrophy, Hypomyelinating, 5:

(show all 18)
# Title Authors PMID Year
1
Hypomyelination and congenital cataract: broadening the clinical phenotype. 61 52 24 56 6
21911699 2011
2
A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract. 24 56 6 61
17928815 2008
3
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. 61 6 24 56
16951682 2006
4
Phenotypic characterization of hypomyelination and congenital cataract. 61 56 24
17683097 2007
5
Hypomyelination and Congenital Cataract 61 6
20301737 2008
6
Novel FAM126A mutations in hypomyelination and congenital cataract disease. 61 24
23998934 2013
7
Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families. 61 24
22749724 2013
8
Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. 24 61
17974614 2008
9
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. 24
17159124 2006
10
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. 24
15192806 2004
11
Cerebellar white matter involvement in Salla disease. 24
15179531 2004
12
A case of Salla disease with involvement of the cerebellar white matter. 24
12592494 2003
13
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. 24
12372733 2002
14
Neurodegeneration in hereditary nucleotide repair disorders. 24
10413020 1999
15
Brain involvement in Salla disease. 24
10219409 1999
16
Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant. 61
32162147 2020
17
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 61
26571211 2016
18
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein. 61
22461884 2012

Variations for Leukodystrophy, Hypomyelinating, 5

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 5:

6 (show top 50) (show all 147) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAM126A NM_032581.4(FAM126A):c.51+1G>ASNV Pathogenic 1214 rs72549405 7:23030679-23030679 7:22991060-22991060
2 FAM126A NM_032581.4(FAM126A):c.414+1G>TSNV Pathogenic 1215 rs72549406 7:23016959-23016959 7:22977340-22977340
3 FAM126A NM_032581.4(FAM126A):c.158T>C (p.Leu53Pro)SNV Pathogenic 1216 rs72549407 7:23018063-23018063 7:22978444-22978444
4 FAM126A FAM126A, 4-KB DELdeletion Pathogenic 1217
5 FAM126A FAM126A:c.627-439_831+348deldeletion 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.1492A>G (p.Thr498Ala)SNV Conflicting interpretations of pathogenicity 430052 rs143894913 7:22985282-22985282 7:22945663-22945663
8 FAM126A NM_032581.4(FAM126A):c.1201T>C (p.Cys401Arg)SNV Conflicting interpretations of pathogenicity 432657 rs563938932 7:22985573-22985573 7:22945954-22945954
9 FAM126A NM_032581.4(FAM126A):c.191A>G (p.Tyr64Cys)SNV Conflicting interpretations of pathogenicity 701831 7:23018030-23018030 7:22978411-22978411
10 FAM126A NM_032581.4(FAM126A):c.972T>G (p.Gly324=)SNV Conflicting interpretations of pathogenicity 706630 7:22999894-22999894 7:22960275-22960275
11 FAM126A NM_032581.4(FAM126A):c.582C>T (p.Tyr194=)SNV Conflicting interpretations of pathogenicity 767086 7:23015873-23015873 7:22976254-22976254
12 FAM126A NM_032581.4(FAM126A):c.1044C>T (p.Asp348=)SNV Conflicting interpretations of pathogenicity 732823 7:22985730-22985730 7:22946111-22946111
13 FAM126A NM_032581.4(FAM126A):c.1171G>C (p.Gly391Arg)SNV Conflicting interpretations of pathogenicity 359772 rs146591904 7:22985603-22985603 7:22945984-22945984
14 FAM126A NM_032581.4(FAM126A):c.1167T>C (p.Thr389=)SNV Uncertain significance 359773 rs886062210 7:22985607-22985607 7:22945988-22945988
15 FAM126A NM_032581.4(FAM126A):c.1067C>T (p.Ala356Val)SNV Uncertain significance 359774 rs752176038 7:22985707-22985707 7:22946088-22946088
16 FAM126A NM_032581.4(FAM126A):c.930T>G (p.Ser310=)SNV Uncertain significance 359776 rs762598890 7:22999936-22999936 7:22960317-22960317
17 FAM126A NM_032581.4(FAM126A):c.766G>C (p.Ala256Pro)SNV Uncertain significance 359778 rs142984808 7:23000919-23000919 7:22961300-22961300
18 FAM126A NM_032581.4(FAM126A):c.356A>G (p.His119Arg)SNV Uncertain significance 359782 rs566774657 7:23017018-23017018 7:22977399-22977399
19 FAM126A NM_032581.4(FAM126A):c.*2111G>ASNV Uncertain significance 359734 rs886062199 7:22983097-22983097 7:22943478-22943478
20 FAM126A NM_032581.4(FAM126A):c.*2044A>GSNV Uncertain significance 359737 rs76692254 7:22983164-22983164 7:22943545-22943545
21 FAM126A NM_032581.4(FAM126A):c.*2001T>ASNV Uncertain significance 359738 rs886062201 7:22983207-22983207 7:22943588-22943588
22 FAM126A NM_032581.4(FAM126A):c.*1481G>CSNV Uncertain significance 359746 rs886062204 7:22983727-22983727 7:22944108-22944108
23 FAM126A NM_032581.4(FAM126A):c.*1255A>GSNV Uncertain significance 359750 rs886062205 7:22983953-22983953 7:22944334-22944334
24 FAM126A NM_032581.4(FAM126A):c.*1007T>CSNV Uncertain significance 359752 rs886062206 7:22984201-22984201 7:22944582-22944582
25 FAM126A NM_032581.4(FAM126A):c.*94G>ASNV Uncertain significance 359766 rs886062209 7:22985114-22985114 7:22945495-22945495
26 FAM126A NM_032581.4(FAM126A):c.281A>G (p.Asn94Ser)SNV Uncertain significance 359783 rs201252505 7:23017940-23017940 7:22978321-22978321
27 FAM126A NM_032581.4(FAM126A):c.-29+3G>CSNV Uncertain significance 359785 rs886062214 7:23053541-23053541 7:23013922-23013922
28 FAM126A NM_032581.4(FAM126A):c.*4219T>ASNV Uncertain significance 359716 rs886062195 7:22980989-22980989 7:22941370-22941370
29 FAM126A NM_032581.4(FAM126A):c.*1596A>GSNV Uncertain significance 359744 rs886062203 7:22983612-22983612 7:22943993-22943993
30 FAM126A NM_032581.4(FAM126A):c.*2904A>TSNV Uncertain significance 359728 rs565649812 7:22982304-22982304 7:22942685-22942685
31 FAM126A NM_032581.4(FAM126A):c.*180G>ASNV Uncertain significance 359765 rs886062208 7:22985028-22985028 7:22945409-22945409
32 FAM126A NM_032581.4(FAM126A):c.-202C>TSNV Uncertain significance 359788 rs17150413 7:23053717-23053717 7:23014098-23014098
33 FAM126A NM_032581.4(FAM126A):c.*4329deldeletion Uncertain significance 359712 rs886062194 7:22980879-22980879 7:22941260-22941260
34 FAM126A NM_032581.4(FAM126A):c.*4255A>GSNV Uncertain significance 359714 rs562064414 7:22980953-22980953 7:22941334-22941334
35 FAM126A NM_032581.4(FAM126A):c.*4043A>GSNV Uncertain significance 359717 rs886062196 7:22981165-22981165 7:22941546-22941546
36 FAM126A NM_032581.4(FAM126A):c.*3486_*3489deldeletion Uncertain significance 359723 rs545140159 7:22981719-22981722 7:22942100-22942103
37 FAM126A NM_032581.4(FAM126A):c.*2822A>TSNV Uncertain significance 359729 rs886062198 7:22982386-22982386 7:22942767-22942767
38 FAM126A NM_032581.4(FAM126A):c.*3491A>TSNV Uncertain significance 359722 rs142056277 7:22981717-22981717 7:22942098-22942098
39 FAM126A NM_032581.4(FAM126A):c.*1796A>GSNV Uncertain significance 359742 rs886062202 7:22983412-22983412 7:22943793-22943793
40 FAM126A NM_032581.4(FAM126A):c.*1428T>CSNV Uncertain significance 359747 rs571330609 7:22983780-22983780 7:22944161-22944161
41 FAM126A NM_032581.4(FAM126A):c.*1008G>ASNV Uncertain significance 359751 rs185370892 7:22984200-22984200 7:22944581-22944581
42 FAM126A NM_032581.4(FAM126A):c.1480G>A (p.Val494Ile)SNV Uncertain significance 359770 rs151228394 7:22985294-22985294 7:22945675-22945675
43 FAM126A NM_032581.4(FAM126A):c.1220G>A (p.Arg407Gln)SNV Uncertain significance 359771 rs753315808 7:22985554-22985554 7:22945935-22945935
44 FAM126A NM_032581.4(FAM126A):c.*829T>CSNV Uncertain significance 359754 rs886062207 7:22984379-22984379 7:22944760-22944760
45 FAM126A NM_032581.4(FAM126A):c.*232T>CSNV Uncertain significance 359763 rs527271452 7:22984976-22984976 7:22945357-22945357
46 FAM126A NM_032581.4(FAM126A):c.*77C>GSNV Uncertain significance 359767 rs566103896 7:22985131-22985131 7:22945512-22945512
47 FAM126A NM_032581.4(FAM126A):c.855A>G (p.Ser285=)SNV Uncertain significance 359777 rs886062211 7:23000011-23000011 7:22960392-22960392
48 FAM126A NM_032581.4(FAM126A):c.530+14A>GSNV Uncertain significance 359780 rs886062212 7:23016298-23016298 7:22976679-22976679
49 FAM126A NM_032581.4(FAM126A):c.302T>C (p.Ile101Thr)SNV Uncertain significance 377197 rs780427026 7:23017919-23017919 7:22978300-22978300
50 FAM126A NM_032581.4(FAM126A):c.1184A>G (p.Glu395Gly)SNV Uncertain significance 536256 rs972215357 7:22985590-22985590 7:22945971-22945971

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 response to toxic substance GO:0009636 9.16 GJC2 ERCC6
2 positive regulation of gene expression GO:0010628 9.13 PLP1 GJC2 ERCC6
3 myelination GO:0042552 8.62 PLP1 FAM126A

Sources for Leukodystrophy, Hypomyelinating, 5

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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