MCID: LKD009
MIFTS: 37

Leukodystrophy, Hypomyelinating, 5 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Blood diseases, Liver diseases, Cancer diseases

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 5

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Aliases & Descriptions for Leukodystrophy, Hypomyelinating, 5:

Name: Leukodystrophy, Hypomyelinating, 5 51 47 69 12
Hypomyelination and Congenital Cataract 23 47 24 25 67
Hld5 11 47 69
Hcc 24 25 69
Hypomyelination-Congenital Cataract Syndrome 11 53
 
Hypomyelination with Congenital Cataract 69 26
Hypomyelinating Leukodystrophy 5 11 24
Hypomyelination - Congenital Cataract 47
Liver Carcinoma 67

Characteristics:

Orphanet epidemiological data:

53
hypomyelination-congenital cataract syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
leukodystrophy, hypomyelinating, 5:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, variable expressivity

Classifications:



External Ids:

OMIM51 610532
Disease Ontology11 DOID:0060793
ICD1029 G37.8
Orphanet53 ORPHA85163
ICD10 via Orphanet30 G37.8
MeSH38 D020279

Summaries for Leukodystrophy, Hypomyelinating, 5

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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.

MalaCards based summary: Leukodystrophy, Hypomyelinating, 5, also known as hypomyelination and congenital cataract, is related to hepatocellular carcinoma and childhood hepatocellular carcinoma, and has symptoms including cataract, cognitive impairment and congenital cataract. An important gene associated with Leukodystrophy, Hypomyelinating, 5 is FAM126A (Family With Sequence Similarity 126 Member A). The drugs interferon alfa-2b and recombinant interferon beta-1a have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain, and related mouse phenotype no phenotypic analysis.

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.

UniProtKB/Swiss-Prot:69 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.

Description from OMIM:51 610532

GeneReviews for NBK2587

Related Diseases for Leukodystrophy, Hypomyelinating, 5

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Diseases in the Hypomyelinating Leukodystrophy family:

Leukodystrophy, Hypomyelinating, 2 Leukodystrophy, Hypomyelinating, 10
Leukodystrophy, Hypomyelinating, 4 Leukodystrophy, Hypomyelinating, 3
Leukodystrophy, Hypomyelinating, 9 Leukodystrophy, Hypomyelinating, 11
leukodystrophy, hypomyelinating, 5 Leukodystrophy, Hypomyelinating, 6
Hypomyelinating Leukodystrophy 13 Hypomyelinating Leukodystrophy 12
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1hepatocellular carcinoma11.9
2childhood hepatocellular carcinoma10.9
3thyroid carcinoma, hurthle cell10.9
4microphthalmia, syndromic 110.8
5pelizaeus-merzbacher disease10.8
6fibrolamellar carcinoma10.8
7hepatitis10.3
8liver cirrhosis10.0
9hepatitis c10.0
10hepatitis c virus10.0
11viral hepatitis10.0
12liver disease9.9
13hepatitis b9.8
14microphthalmia9.8
15autoimmune hepatitis9.7
16vaccinia9.7
17adenoma9.7
18hypoxia9.7
19pituitary tumors9.7
20pancreatic cancer9.6
21alcohol abuse9.6
22cataract9.6
23leukemia9.6
24hepatocellular adenoma9.6
25sclerocornea9.6
26leukodystrophy9.6
27tetanus9.6
28diphtheria9.6
29polydactyly9.6
30cauda equina syndrome9.6
31portal vein thrombosis9.6
32ovarian cancer9.6
33congenital diaphragmatic hernia9.6
34pancreatitis9.6
35hypersplenism9.6
36hepatoblastoma9.6
37thyroiditis9.6
38neuronitis9.6
39tyrosinemia9.6
40cholangitis9.6
41fatty liver disease9.6
42glioblastoma9.6
43endotheliitis9.6
44irf6-related disorders9.5FAM126A, PIK3CA

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



Diseases related to leukodystrophy, hypomyelinating, 5

Symptoms for Leukodystrophy, Hypomyelinating, 5

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Symptoms by clinical synopsis from OMIM:

610532

Clinical features from OMIM:

610532

Human phenotypes related to Leukodystrophy, Hypomyelinating, 5:

 63 53 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract63 hallmark (90%) HP:0000518
2 cognitive impairment63 hallmark (90%) HP:0100543
3 congenital cataract63 53 Very frequent (99-80%) HP:0000519
4 intellectual disability63 HP:0001249
5 seizures63 HP:0001250
6 dysarthria63 HP:0001260
7 motor delay63 HP:0001270
8 polyneuropathy63 HP:0001271
9 abnormality of the cerebellum63 53 Very frequent (99-80%) HP:0001317
10 hyperreflexia63 HP:0001347
11 intention tremor63 HP:0002080
12 leukodystrophy63 HP:0002415
13 scoliosis63 HP:0002650
14 decreased motor nerve conduction velocity63 HP:0003431
15 babinski sign63 HP:0003487
16 loss of ability to walk63 HP:0006957
17 lower limb amyotrophy63 HP:0007210
18 lower limb muscle weakness63 HP:0007340
19 muscular hypotonia of the trunk63 HP:0008936
20 cerebral white matter atrophy63 HP:0012762
21 truncal titubation63 HP:0030147
22 global developmental delay53 Very frequent (99-80%)
23 intellectual disability, moderate53 Very frequent (99-80%)
24 cerebral hypomyelination53 Very frequent (99-80%)
25 abnormal pyramidal signs53 Very frequent (99-80%)

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 5:


pyramidal sign, action tremor, abdominal pain, hepatomegaly, malaise

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 5

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Genetic Tests for Leukodystrophy, Hypomyelinating, 5

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Genetic tests related to Leukodystrophy, Hypomyelinating, 5:

id Genetic test Affiliating Genes
1 Hypomyelination and Congenital Cataract26 24 FAM126A

Anatomical Context for Leukodystrophy, Hypomyelinating, 5

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

35
Eye, Liver, Brain, Cerebellum

Animal Models for Leukodystrophy, Hypomyelinating, 5 or affiliated genes

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MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 5:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1FAM126A, PIK3CA

Publications for Leukodystrophy, Hypomyelinating, 5

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Variations for Leukodystrophy, Hypomyelinating, 5

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

69
id Symbol AA change Variation ID SNP ID
1FAM126Ap.Leu53ProVAR_030647rs72549407
2FAM126Ap.Cys57ArgVAR_075100

Clinvar genetic disease variations for Leukodystrophy, Hypomyelinating, 5:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FAM126ANM_032581.3(FAM126A): c.51+1G> ASNVPathogenicrs72549405GRCh37Chr 7, 23030679: 23030679
2FAM126ANM_032581.3(FAM126A): c.414+1G> TSNVPathogenicrs72549406GRCh37Chr 7, 23016959: 23016959
3FAM126ANM_032581.3(FAM126A): c.158T> C (p.Leu53Pro)SNVPathogenicrs72549407GRCh37Chr 7, 23018063: 23018063
4FAM126AFAM126A, 4-KB DELdeletionPathogenicChr na, -1: -1
5PIK3CANM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg)SNVPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
6FAM126AFAM126A: c.627-439_831+348deldeletionPathogenicrs80338793GRCh37Chr 7, 23000506: 23004589
7FAM126ANM_032581.3(FAM126A): c.415-1G> ASNVPathogenicrs886043139GRCh37Chr 7, 23016428: 23016428

Expression for genes affiliated with Leukodystrophy, Hypomyelinating, 5

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

Pathways for genes affiliated with Leukodystrophy, Hypomyelinating, 5

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GO Terms for genes affiliated with Leukodystrophy, Hypomyelinating, 5

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol phosphorylationGO:00468549.1FAM126A, PIK3CA

Sources for Leukodystrophy, Hypomyelinating, 5

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet