MCID: PLR009
MIFTS: 45

Pol Iii-Related Leukodystrophies malady

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

Aliases & Classifications for Pol Iii-Related Leukodystrophies

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Aliases & Descriptions for Pol Iii-Related Leukodystrophies:

Name: Pol Iii-Related Leukodystrophies 32 21 22
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 23 65
Leukodystrophy with Oligodontia 23 51
Pol Iii-Related Leukodystrophy 23 24
Dentoleukoencephalopathy 23 51
Odontoleukodystrophy 23 51
4h Syndrome 23 51
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 23
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 65
Hypomyelination-Cerebellar Atrophy-Hypoplasia of the Corpus Callosum Syndrome 51
Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum 23
Hypomyelination-Hypogonadotropic-Hypogonadism-Hypodontia Syndrome 51
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome 51
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism 23
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination 23
Ataxia-Delayed Dentition-Hypomyelination Syndrome 51
 
Pol Iii-Related Hypomyelinating Leukodystrophies 23
Leukodystrophy, Dysmyelinating, with Oligodontia 65
Tremor-Ataxia-Central Hypomyelination Syndrome 51
Ataxia, Delayed Dentition, and Hypomyelination 23
Tremor-Ataxia with Central Hypomyelination 23
Attention Deficit Hyperactivity Disorder 65
Pol Iii Related Leukodystrophies 22
Pol Iii Disorder 23
Tach Syndrome 51
Hcahc 23
Hld7 23
Addh 23
Hld8 23
Tach 23
Lo 23

Characteristics:

Orphanet epidemiological data:

51
leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
leukodystrophy with oligodontia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
4h syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy

Classifications:



External Ids:

ICD10 via Orphanet28 E75.2, G11.1
UMLS65 C2676243, C1263846, C3502054 C3280644, more

Summaries for Pol Iii-Related Leukodystrophies

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Genetics Home Reference:23 Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses.

MalaCards based summary: Pol Iii-Related Leukodystrophies, also known as leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, is related to leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism and leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, and has symptoms including abnormality of the genital system, abnormality of the teeth and incoordination. An important gene associated with Pol Iii-Related Leukodystrophies is POLR3B (Polymerase (RNA) III Subunit B), and among its related pathways are Transcription of tRNA and Gene Expression. The drugs selegiline and selegiline hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and lung.

GeneReviews summary for NBK99167

Related Diseases for Pol Iii-Related Leukodystrophies

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Graphical network of diseases related to Pol Iii-Related Leukodystrophies:



Diseases related to pol iii-related leukodystrophies

Symptoms for Pol Iii-Related Leukodystrophies

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Symptoms:

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  • anomalies of teeth and dentition
  • late puberty/hypogonadism/hypogenitalism
  • ataxia/incoordination/trouble of the equilibrium

HPO human phenotypes related to Pol Iii-Related Leukodystrophies:

id Description Frequency HPO Source Accession
1 abnormality of the genital system hallmark (90%) HP:0000078
2 abnormality of the teeth hallmark (90%) HP:0000164
3 incoordination hallmark (90%) HP:0002311

UMLS symptoms related to Pol Iii-Related Leukodystrophies:


upper motor neuron signs, static tremor, muscle spasticity, ataxia, sleeplessness, vertigo/dizziness, chronic pain, tremor, syncope, seizures, sciatica, pain, headache, back pain

Genetic Tests for Pol Iii-Related Leukodystrophies

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Genetic tests related to Pol Iii-Related Leukodystrophies:

id Genetic test Affiliating Genes
1 Pol Iii-Related Leukodystrophies22 POLR3A, POLR3B

Anatomical Context for Pol Iii-Related Leukodystrophies

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MalaCards organs/tissues related to Pol Iii-Related Leukodystrophies:

33
Eye, Heart, Lung, Ovary, Brain

Animal Models for Pol Iii-Related Leukodystrophies or affiliated genes

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MGI Mouse Phenotypes related to Pol Iii-Related Leukodystrophies:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Pol Iii-Related Leukodystrophies

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Articles related to Pol Iii-Related Leukodystrophies:

idTitleAuthorsYear
1
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description. (26204956)
2015
2
Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy. (25868523)
2015
3
Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies. (24105487)
2014
4
Pol III-Related Leukodystrophies (22855961)
1993

Variations for Pol Iii-Related Leukodystrophies

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Expression for genes affiliated with Pol Iii-Related Leukodystrophies

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Search GEO for disease gene expression data for Pol Iii-Related Leukodystrophies.

Pathways for genes affiliated with Pol Iii-Related Leukodystrophies

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Pathways related to Pol Iii-Related Leukodystrophies according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0POLR3A, POLR3B
2
Show member pathways
8.5POLR1C, POLR3A, POLR3B
3
Show member pathways
8.5POLR1C, POLR3A, POLR3B
4
Show member pathways
8.5POLR1C, POLR3A, POLR3B
5
Show member pathways
8.5POLR1C, POLR3A, POLR3B
6
Show member pathways
8.5POLR1C, POLR3A, POLR3B
78.5POLR1C, POLR3A, POLR3B

GO Terms for genes affiliated with Pol Iii-Related Leukodystrophies

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Cellular components related to Pol Iii-Related Leukodystrophies according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.5POLR1C, POLR3A, POLR3B

Biological processes related to Pol Iii-Related Leukodystrophies according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription from RNA polymerase III promoterGO:00063839.7POLR1C, POLR3B
2positive regulation of type I interferon productionGO:00324819.0POLR1C, POLR3A, POLR3B
3defense response to virusGO:00516078.9POLR3A, POLR3B
4innate immune responseGO:00450878.5POLR1C, POLR3A, POLR3B
5transcription, DNA-templatedGO:00063518.2POLR1C, POLR3A, POLR3B

Molecular functions related to Pol Iii-Related Leukodystrophies according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA-directed RNA polymerase activityGO:00038999.6POLR3A, POLR3B
2DNA bindingGO:00036779.1POLR1C, POLR3A

Sources for Pol Iii-Related Leukodystrophies

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet