HLD5
MCID: LKD009
MIFTS: 34

Leukodystrophy, Hypomyelinating, 5 (HLD5) malady

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 5

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Aliases & Descriptions for Leukodystrophy, Hypomyelinating, 5:

Name: Leukodystrophy, Hypomyelinating, 5 52 48 70 12
Hypomyelination and Congenital Cataract 23 48 24 25 68
Hypomyelinating Leukodystrophy 5 11 24 13
Hld5 11 48 70
 
Hcc 24 25 70
Hypomyelination-Congenital Cataract Syndrome 11 54
Hypomyelination with Congenital Cataract 70 27
Hypomyelination - Congenital Cataract 48

Characteristics:

Orphanet epidemiological data:

54
hypomyelination-congenital cataract syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
leukodystrophy, hypomyelinating, 5:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, variable expressivity

Classifications:



External Ids:

OMIM52 610532
Disease Ontology11 DOID:0060793
ICD1030 G37.8
Orphanet54 ORPHA85163
ICD10 via Orphanet31 G37.8
MeSH39 D020279

Summaries for Leukodystrophy, Hypomyelinating, 5

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NIH Rare Diseases:48 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. last updated: 11/23/2016

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 abnormal pyramidal signs, action tremor and Array. An important gene associated with Leukodystrophy, Hypomyelinating, 5 is FAM126A (Family With Sequence Similarity 126 Member A). Affiliated tissues include eye, brain and testes.

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.

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.

UniProtKB/Swiss-Prot:70 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:52 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 32)
idRelated DiseaseScoreTop Affiliating Genes
1hepatocellular carcinoma11.9
2childhood hepatocellular carcinoma11.6
3fibrolamellar carcinoma11.4
4thyroid carcinoma, hurthle cell11.0
5pelizaeus-merzbacher disease10.8
6microphthalmia, syndromic 110.8
7adult hepatocellular carcinoma10.8
8hepatitis10.3
9cataract10.3
10liver cirrhosis10.0
11hepatitis c10.0
12hepatitis c virus10.0
13viral hepatitis10.0
14liver disease9.9
15leukodystrophy9.8
16neuronitis9.8
17nonprogressive cerebellar atxia with mental retardation9.8PLP1, TUBB4A
18hepatitis b9.8
19microphthalmia9.8
20hypoxia9.8
21autoimmune hepatitis9.7
22thrombosis9.7
23vaccinia9.7
24adenoma9.7
25pituitary tumors9.7
26syndromic x-linked intellectual disability 129.6FAM126A, PLP1, TUBB4A
27pancreatic cancer9.6
28leukemia9.6
29ovarian cancer9.6
30congenital diaphragmatic hernia9.6
31idiopathic progressive polyneuropathy9.5FAM126A, PLP1, TUBB4A
32retinitis pigmentosa 429.4FAM126A, PIK3CA, PLP1, TUBB4A

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



Diseases related to leukodystrophy, hypomyelinating, 5

Symptoms & Phenotypes 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:

 54 64 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital cataract64 54 Very frequent (99-80%) HP:0000519
2 global developmental delay64 54 Very frequent (99-80%) HP:0001263
3 abnormality of the cerebellum64 54 Very frequent (99-80%) HP:0001317
4 intellectual disability, moderate64 54 Very frequent (99-80%) HP:0002342
5 cerebral hypomyelination64 54 Very frequent (99-80%) HP:0006808
6 abnormal pyramidal signs64 54 Very frequent (99-80%) HP:0007256
7 intellectual disability64 HP:0001249
8 seizures64 HP:0001250
9 dysarthria64 HP:0001260
10 motor delay64 HP:0001270
11 polyneuropathy64 HP:0001271
12 hyperreflexia64 HP:0001347
13 intention tremor64 HP:0002080
14 leukodystrophy64 HP:0002415
15 scoliosis64 HP:0002650
16 decreased motor nerve conduction velocity64 HP:0003431
17 babinski sign64 HP:0003487
18 loss of ability to walk64 HP:0006957
19 lower limb amyotrophy64 HP:0007210
20 lower limb muscle weakness64 HP:0007340
21 muscular hypotonia of the trunk64 HP:0008936
22 cerebral white matter atrophy64 HP:0012762
23 truncal titubation64 HP:0030147

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 5:


abnormal pyramidal signs, action tremor

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 5

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Interventional clinical trials:

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

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 Cataract27 24 FAM126A

Anatomical Context for Leukodystrophy, Hypomyelinating, 5

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

36
Eye, Brain, Testes, Cerebellum

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:

70
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 DELdeletionPathogenic
5FAM126AFAM126A: c.627-439_ 831+348deldeletionPathogenicrs80338793GRCh37Chr 7, 23000506: 23004589
6FAM126ANM_ 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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Cellular components related to Leukodystrophy, Hypomyelinating, 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myelin sheathGO:00432099.1PLP1, TUBB4A

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

idNameGO IDScoreTop Affiliating Genes
1myelinationGO:00425529.7FAM126A, PLP1
2phosphatidylinositol phosphorylationGO:00468549.3FAM126A, PIK3CA

Sources for Leukodystrophy, Hypomyelinating, 5

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet