HLD5
MCID: LKD009
MIFTS: 50

Leukodystrophy, Hypomyelinating, 5 (HLD5)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 5

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 5:

Name: Leukodystrophy, Hypomyelinating, 5 57 19 73 12 38
Hypomyelination and Congenital Cataract 24 19 42 28 5 71
Hld5 57 11 19 73
Hypomyelination-Congenital Cataract Syndrome 11 58 75
Hypomyelinating Leukodystrophy 5 11 14
Hcc 42 73
Hypomyelination and Congenital Cataract: Hcc 57
Hypomyelination with Congenital Cataract 73
Hypomyelination - Congenital Cataract 19

Characteristics:


Inheritance:

Leukodystrophy, Hypomyelinating, 5: Autosomal recessive 57
Hypomyelination-Congenital Cataract Syndrome: Autosomal recessive 58

Prevelance:

Hypomyelination-Congenital Cataract Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Hypomyelination-Congenital Cataract Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
variable severity


GeneReviews:

24
Penetrance Penetrance is complete.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:0060793
OMIM® 57 610532
OMIM Phenotypic Series 57 PS312080
MeSH 43 D020279
ICD10 31 G37.8
ICD10 via Orphanet 32 G37.8
UMLS via Orphanet 72 C1864663
Orphanet 58 ORPHA85163
UMLS 71 C1864663

Summaries for Leukodystrophy, Hypomyelinating, 5

MedlinePlus Genetics: 42 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 spasticity and leukodystrophy, and has symptoms including action tremor, abnormal pyramidal signs and cerebellar signs. An important gene associated with Leukodystrophy, Hypomyelinating, 5 is HYCC1 (Hyccin PI4KA Lipid Kinase Complex Subunit 1), and among its related pathways/superpathways are Oligodendrocyte specification and differentiation, leading to myelin components for CNS and Glial cell differentiation. Affiliated tissues include eye, brain and cerebellum, and related phenotypes are abnormal pyramidal sign and global developmental delay

GARD: 19 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 (genetic change ) 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.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Orphanet: 58 Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

Wikipedia: 75 Hypomyelination-congenital cataract syndrome is a rare autosomal recessive hereditary disorder that... more...

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 Leukodystrophy, Hypomyelinating, 21
Leukodystrophy, Hypomyelinating, 22 Leukodystrophy, Hypomyelinating, 24

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

(show top 50) (show all 361)
# Related Disease Score Top Affiliating Genes
1 spasticity 30.2 POLR3A PLP1 GFAP
2 leukodystrophy 27.4 TUBB4A SURF1 POLR3A PLP1 NDUFS7 NDUFS1
3 hepatocellular carcinoma 11.7
4 childhood hepatocellular carcinoma 11.5
5 fibrolamellar carcinoma 11.4
6 african histoplasmosis 11.2
7 hepatitis c virus 11.1
8 combined hepatocellular carcinoma and cholangiocarcinoma 11.0
9 thyroid carcinoma, hurthle cell 11.0
10 adult hepatocellular carcinoma 11.0
11 liver cirrhosis 10.9
12 hepatitis b 10.8
13 non-alcoholic fatty liver disease 10.7
14 non-alcoholic steatohepatitis 10.7
15 hepatitis 10.7
16 hepatitis c 10.7
17 fatty liver disease 10.7
18 liver disease 10.7
19 viral hepatitis 10.5
20 portal vein thrombosis 10.5
21 viral infectious disease 10.4
22 alcohol dependence 10.4
23 factor vii deficiency 10.4
24 portal hypertension 10.4
25 cholangiocarcinoma 10.4
26 thrombosis 10.3
27 alcohol use disorder 10.3
28 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.3
29 children's interstitial lung disease 10.3
30 fetal anticonvulsant syndrome 10.3
31 severe combined immunodeficiency 10.2
32 leukodystrophy, hypomyelinating, 12 10.2 HYCC1 GJC2
33 leukodystrophy, hypomyelinating, 10 10.2 POLR3A HYCC1
34 fatty liver disease 1 10.2
35 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.2
36 intrahepatic cholangiocarcinoma 10.2
37 polyneuropathy 10.2
38 spastic paraplegia 25, autosomal recessive 10.2 POLR3A NDUFS1
39 combined d-2- and l-2-hydroxyglutaric aciduria 10.2 SDHAF1 L2HGDH
40 immunodeficiency, common variable, 10 10.2
41 infantile cerebellar-retinal degeneration 10.2 SDHAF1 L2HGDH
42 down syndrome 10.2
43 varicose veins 10.2
44 abdominal obesity-metabolic syndrome 1 10.2
45 vitamin k deficiency bleeding 10.2
46 alcoholic liver cirrhosis 10.2
47 thrombocytopenia 10.2
48 combined saposin deficiency 10.2 GALC EIF2B5
49 leukodystrophy, hypomyelinating, 9 10.2 POLR3A HYCC1 GJC2
50 pelizaeus-merzbacher-like disease 10.2 PLP1 GJC2

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 30 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007256
2 global developmental delay 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001263
3 intellectual disability, moderate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002342
4 abnormal cerebellum morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001317
5 developmental cataract 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000519
6 cerebral hypomyelination 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006808
7 intellectual disability 30 Very rare (1%) HP:0001249
8 seizure 30 Very rare (1%) HP:0001250
9 hyperreflexia 30 Very rare (1%) HP:0001347
10 scoliosis 30 Very rare (1%) HP:0002650
11 dysarthria 30 Very rare (1%) HP:0001260
12 decreased motor nerve conduction velocity 30 Very rare (1%) HP:0003431
13 babinski sign 30 Very rare (1%) HP:0003487
14 polyneuropathy 30 Very rare (1%) HP:0001271
15 intention tremor 30 Very rare (1%) HP:0002080
16 cns hypomyelination 30 Very rare (1%) HP:0003429
17 lower limb muscle weakness 30 Very rare (1%) HP:0007340
18 lower limb amyotrophy 30 Very rare (1%) HP:0007210
19 onion bulb formation 30 Very rare (1%) HP:0003383
20 truncal titubation 30 Very rare (1%) HP:0030147
21 delayed ability to walk 30 Very rare (1%) HP:0031936
22 loss of ambulation 30 Very rare (1%) HP:0002505
23 axial hypotonia 30 Very rare (1%) HP:0008936
24 leukodystrophy 30 HP:0002415
25 cerebral white matter atrophy 30 HP:0012762

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 5:


action tremor; abnormal pyramidal signs; cerebellar signs

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.28 CHD7 EIF2B5 FUCA1 GALC GFAP GJC2
2 homeostasis/metabolism MP:0005376 10.28 CHD7 EIF2B5 EPHA1 FUCA1 GALC GFAP
3 behavior/neurological MP:0005386 10.19 CHD7 EIF2B5 FUCA1 GALC GFAP GJC2
4 growth/size/body region MP:0005378 10.13 CHD7 EIF2B5 EPHA1 GALC GFAP HSD17B4
5 immune system MP:0005387 9.93 CHD7 EIF2B5 EPHA1 GALC GFAP GJC2
6 hearing/vestibular/ear MP:0005377 9.85 CHD7 FUCA1 HSD17B4 MAG PLP1 SLC17A5
7 vision/eye MP:0005391 9.65 CHD7 EIF2B5 GALC GFAP GJC2 HSD17B4
8 mortality/aging MP:0010768 9.47 CHD7 EIF2B5 GALC GFAP GJC2 HSD17B4

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 28 HYCC1

Anatomical Context for Leukodystrophy, Hypomyelinating, 5

Organs/tissues related to Leukodystrophy, Hypomyelinating, 5:

MalaCards : Eye, Brain, Cerebellum
ODiseA: Peripheral Nerve, Brain

Publications for Leukodystrophy, Hypomyelinating, 5

Articles related to Leukodystrophy, Hypomyelinating, 5:

(show all 21)
# Title Authors PMID Year
1
Hypomyelination and congenital cataract: broadening the clinical phenotype. 62 24 57 5
21911699 2011
2
A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract. 62 24 57 5
17928815 2008
3
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. 62 24 57 5
16951682 2006
4
Novel FAM126A mutations in hypomyelination and congenital cataract disease. 62 24 5
23998934 2013
5
Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families. 62 24 5
22749724 2013
6
Phenotypic characterization of hypomyelination and congenital cataract. 62 24 57
17683097 2007
7
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 62 24
26571211 2016
8
Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. 62 24
17974614 2008
9
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
10
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
11
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
12
Hyccin/FAM126A deficiency reduces glial enrichment and axonal sheath, which are rescued by overexpression of a plasma membrane-targeting PI4KIII╬▒ in Drosophila. 62
34894559 2022
13
Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review. 62
34192786 2021
14
Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant. 62
34026180 2021
15
Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant. 62
32162147 2021
16
Hypomyelination and Congenital Cataract: Three Siblings Presentation. 62
33531944 2020
17
Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties. 62
28275661 2017
18
Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum. 62
24417797 2014
19
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein. 62
22461884 2012
20
Magnetic resonance imaging pattern recognition in hypomyelinating disorders. 62
20881161 2010
21
Hypomyelination and Congenital Cataract 62
20301737 2008

Variations for Leukodystrophy, Hypomyelinating, 5

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 5:

5 (show top 50) (show all 212)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HYCC1 NM_032581.4(HYCC1):c.649C>T (p.Arg217Ter) SNV Pathogenic
1457726 GRCh37: 7:23004128-23004128
GRCh38: 7:22964509-22964509
2 HYCC1 FAM126A:c.627-439_831+348del DEL Pathogenic
21725 GRCh37: 7:23000506-23004589
GRCh38: 7:22960887-22964970
3 HYCC1 NM_032581.4(HYCC1):c.158T>C (p.Leu53Pro) SNV Pathogenic
1216 rs72549407 GRCh37: 7:23018063-23018063
GRCh38: 7:22978444-22978444
4 HYCC1 NM_032581.4(HYCC1):c.414+1G>T SNV Pathogenic
1215 rs72549406 GRCh37: 7:23016959-23016959
GRCh38: 7:22977340-22977340
5 HYCC1 NM_032581.4(HYCC1):c.51+1G>A SNV Pathogenic
1214 rs72549405 GRCh37: 7:23030679-23030679
GRCh38: 7:22991060-22991060
6 FAM126A NM_032581.4(FAM126A):c.414+1G>A SNV Pathogenic
1458225 GRCh37: 7:23016959-23016959
GRCh38: 7:22977340-22977340
7 FAM126A NM_032581.4(FAM126A):c.722T>G (p.Leu241Ter) SNV Pathogenic
1333193 GRCh37: 7:23004055-23004055
GRCh38: 7:22964436-22964436
8 FAM126A NM_032581.4(FAM126A):c.125dup (p.Tyr42Ter) DUP Pathogenic
450984 rs780540757 GRCh37: 7:23023590-23023591
GRCh38: 7:22983971-22983972
9 FAM126A NM_032581.4(FAM126A):c.150_151dup (p.Glu51fs) DUP Likely Pathogenic
1199229 GRCh37: 7:23023564-23023565
GRCh38: 7:22983945-22983946
10 FAM126A NM_032581.4(FAM126A):c.100_101del (p.Lys34fs) DEL Likely Pathogenic
635049 rs1562502139 GRCh37: 7:23023615-23023616
GRCh38: 7:22983996-22983997
11 FAM126A NM_032581.4(FAM126A):c.831+1G>T SNV Likely Pathogenic
1506613 GRCh37: 7:23000853-23000853
GRCh38: 7:22961234-22961234
12 FAM126A NM_032581.4(FAM126A):c.832-2A>T SNV Likely Pathogenic
1679236 GRCh37: 7:23000036-23000036
GRCh38: 7:22960417-22960417
13 HYCC1 NM_032581.4(HYCC1):c.831+10T>C SNV Conflicting Interpretations Of Pathogenicity
910978 rs199912375 GRCh37: 7:23000844-23000844
GRCh38: 7:22961225-22961225
14 HYCC1 NM_032581.4(HYCC1):c.972T>G (p.Gly324=) SNV Conflicting Interpretations Of Pathogenicity
706630 rs200916070 GRCh37: 7:22999894-22999894
GRCh38: 7:22960275-22960275
15 HYCC1 NM_032581.4(HYCC1):c.582C>T (p.Tyr194=) SNV Conflicting Interpretations Of Pathogenicity
767086 rs148453182 GRCh37: 7:23015873-23015873
GRCh38: 7:22976254-22976254
16 HYCC1 NM_032581.4(HYCC1):c.281A>G (p.Asn94Ser) SNV Conflicting Interpretations Of Pathogenicity
359783 rs201252505 GRCh37: 7:23017940-23017940
GRCh38: 7:22978321-22978321
17 HYCC1 NM_032581.4(HYCC1):c.1044C>T (p.Asp348=) SNV Conflicting Interpretations Of Pathogenicity
732823 rs768075744 GRCh37: 7:22985730-22985730
GRCh38: 7:22946111-22946111
18 HYCC1 NM_032581.4(HYCC1):c.932G>A (p.Arg311Gln) SNV Uncertain Significance
573690 rs148168726 GRCh37: 7:22999934-22999934
GRCh38: 7:22960315-22960315
19 HYCC1 NM_032581.4(HYCC1):c.1184A>G (p.Glu395Gly) SNV Uncertain Significance
536256 rs972215357 GRCh37: 7:22985590-22985590
GRCh38: 7:22945971-22945971
20 HYCC1 NM_032581.4(HYCC1):c.1076C>T (p.Thr359Ile) SNV Uncertain Significance
1432658 GRCh37: 7:22985698-22985698
GRCh38: 7:22946079-22946079
21 HYCC1 NM_032581.4(HYCC1):c.542T>C (p.Leu181Ser) SNV Uncertain Significance
1463500 GRCh37: 7:23015913-23015913
GRCh38: 7:22976294-22976294
22 HYCC1 NM_032581.4(HYCC1):c.608T>C (p.Leu203Pro) SNV Uncertain Significance
1467940 GRCh37: 7:23015847-23015847
GRCh38: 7:22976228-22976228
23 HYCC1 NM_032581.4(HYCC1):c.262G>T (p.Ala88Ser) SNV Uncertain Significance
1028965 rs138296939 GRCh37: 7:23017959-23017959
GRCh38: 7:22978340-22978340
24 HYCC1 NM_032581.4(HYCC1):c.1515A>C (p.Gln505His) SNV Uncertain Significance
1063805 GRCh37: 7:22985259-22985259
GRCh38: 7:22945640-22945640
25 HYCC1 NM_032581.4(HYCC1):c.627-6T>G SNV Uncertain Significance
1465522 GRCh37: 7:23004156-23004156
GRCh38: 7:22964537-22964537
26 HYCC1 NM_032581.4(HYCC1):c.1085C>T (p.Ser362Leu) SNV Uncertain Significance
1525115 GRCh37: 7:22985689-22985689
GRCh38: 7:22946070-22946070
27 HYCC1 NM_032581.4(HYCC1):c.1397C>T (p.Pro466Leu) SNV Uncertain Significance
468354 rs762851762 GRCh37: 7:22985377-22985377
GRCh38: 7:22945758-22945758
28 HYCC1 NM_032581.4(HYCC1):c.74C>T (p.Pro25Leu) SNV Uncertain Significance
857030 rs981766260 GRCh37: 7:23023642-23023642
GRCh38: 7:22984023-22984023
29 HYCC1 NM_032581.4(HYCC1):c.500C>T (p.Pro167Leu) SNV Uncertain Significance
912208 rs546861751 GRCh37: 7:23016342-23016342
GRCh38: 7:22976723-22976723
30 HYCC1 NM_032581.3(HYCC1):c.-256C>T SNV Uncertain Significance
910145 rs963713067 GRCh37: 7:23053771-23053771
GRCh38: 7:23014152-23014152
31 HYCC1 NM_032581.4(HYCC1):c.968G>A (p.Arg323Lys) SNV Uncertain Significance
910977 rs200744437 GRCh37: 7:22999898-22999898
GRCh38: 7:22960279-22960279
32 HYCC1 NM_032581.4(HYCC1):c.863A>C (p.His288Pro) SNV Uncertain Significance
1502173 GRCh37: 7:23000003-23000003
GRCh38: 7:22960384-22960384
33 HYCC1 NM_032581.4(HYCC1):c.733T>A (p.Tyr245Asn) SNV Uncertain Significance
1384727 GRCh37: 7:23004044-23004044
GRCh38: 7:22964425-22964425
34 HYCC1 NM_032581.4(HYCC1):c.1504A>G (p.Met502Val) SNV Uncertain Significance
810075 rs765967900 GRCh37: 7:22985270-22985270
GRCh38: 7:22945651-22945651
35 HYCC1 NM_032581.4(HYCC1):c.766G>C (p.Ala256Pro) SNV Uncertain Significance
359778 rs142984808 GRCh37: 7:23000919-23000919
GRCh38: 7:22961300-22961300
36 FAM126A NM_032581.4(FAM126A):c.1220G>A (p.Arg407Gln) SNV Uncertain Significance
359771 rs753315808 GRCh37: 7:22985554-22985554
GRCh38: 7:22945935-22945935
37 FAM126A NM_032581.4(FAM126A):c.1340C>T (p.Ala447Val) SNV Uncertain Significance
1508219 GRCh37: 7:22985434-22985434
GRCh38: 7:22945815-22945815
38 FAM126A NM_032581.4(FAM126A):c.775G>A (p.Ala259Thr) SNV Uncertain Significance
1450378 GRCh37: 7:23000910-23000910
GRCh38: 7:22961291-22961291
39 FAM126A NM_032581.4(FAM126A):c.461A>G (p.Gln154Arg) SNV Uncertain Significance
1509308 GRCh37: 7:23016381-23016381
GRCh38: 7:22976762-22976762
40 FAM126A NM_032581.4(FAM126A):c.443C>T (p.Thr148Ile) SNV Uncertain Significance
1518696 GRCh37: 7:23016399-23016399
GRCh38: 7:22976780-22976780
41 FAM126A NM_032581.4(FAM126A):c.*2044A>G SNV Uncertain Significance
359737 rs76692254 GRCh37: 7:22983164-22983164
GRCh38: 7:22943545-22943545
42 FAM126A NM_032581.4(FAM126A):c.*1878T>G SNV Uncertain Significance
359740 rs778469120 GRCh37: 7:22983330-22983330
GRCh38: 7:22943711-22943711
43 FAM126A NM_032581.4(FAM126A):c.*94G>A SNV Uncertain Significance
359766 rs886062209 GRCh37: 7:22985114-22985114
GRCh38: 7:22945495-22945495
44 FAM126A NM_032581.4(FAM126A):c.1561G>A (p.Asp521Asn) SNV Uncertain Significance
1377897 GRCh37: 7:22985213-22985213
GRCh38: 7:22945594-22945594
45 FAM126A NM_032581.4(FAM126A):c.649C>A (p.Arg217=) SNV Uncertain Significance
1418368 GRCh37: 7:23004128-23004128
GRCh38: 7:22964509-22964509
46 FAM126A NM_032581.4(FAM126A):c.176A>G (p.Gln59Arg) SNV Uncertain Significance
1478522 GRCh37: 7:23018045-23018045
GRCh38: 7:22978426-22978426
47 FAM126A NM_032581.4(FAM126A):c.416C>T (p.Pro139Leu) SNV Uncertain Significance
1465251 GRCh37: 7:23016426-23016426
GRCh38: 7:22976807-22976807
48 FAM126A NM_032581.4(FAM126A):c.1291A>G (p.Ser431Gly) SNV Uncertain Significance
1450022 GRCh37: 7:22985483-22985483
GRCh38: 7:22945864-22945864
49 FAM126A NM_032581.4(FAM126A):c.1423G>A (p.Gly475Arg) SNV Uncertain Significance
1448757 GRCh37: 7:22985351-22985351
GRCh38: 7:22945732-22945732
50 FAM126A NM_032581.4(FAM126A):c.892A>C (p.Thr298Pro) SNV Uncertain Significance
1489786 GRCh37: 7:22999974-22999974
GRCh38: 7:22960355-22960355

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

73
# Symbol AA change Variation ID SNP ID
1 HYCC1 p.Leu53Pro VAR_030647 rs72549407
2 HYCC1 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

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

# Super pathways Score Top Affiliating Genes
1 10.4 PLP1 MAG
2 9.53 PLP1 MAG

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 paranode region of axon GO:0033270 9.26 MAG GJC2
2 myelin sheath GO:0043209 9.23 TUBB4A PLP1 MAG GJC2

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

# Name GO ID Score Top Affiliating Genes
1 aerobic respiration GO:0009060 9.73 SURF1 NDUFS7 NDUFS1
2 central nervous system myelination GO:0022010 9.5 PLP1 MAG
3 positive regulation of calcium ion transmembrane transport GO:1904427 9.46 PLP1 GJC2
4 astrocyte development GO:0014002 9.43 PLP1 GFAP EIF2B5
5 myelination GO:0042552 9.23 PLP1 MAG HYCC1 GALC EIF2B5

Sources for Leukodystrophy, Hypomyelinating, 5

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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