HLD11
MCID: LKD021
MIFTS: 24

Leukodystrophy, Hypomyelinating, 11 (HLD11)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 11

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 11:

Name: Leukodystrophy, Hypomyelinating, 11 58 76 30 6
Hld11 58 12 76
Leukodystrophy, Hypomyelinating, Type 11 41
Hypomyelinating Leukodystrophy 11 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in first years of life
some patients may show deterioration with infections


HPO:

33
leukodystrophy, hypomyelinating, 11:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leukodystrophy, Hypomyelinating, 11

OMIM : 58 Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616494)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 11, is also known as hld11. An important gene associated with Leukodystrophy, Hypomyelinating, 11 is POLR1C (RNA Polymerase I And III Subunit C). Affiliated tissues include brain and eye, and related phenotypes are ataxia and spasticity

Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has material basis in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.

UniProtKB/Swiss-Prot : 76 Leukodystrophy, hypomyelinating, 11: An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism.

Related Diseases for Leukodystrophy, Hypomyelinating, 11

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 11

Human phenotypes related to Leukodystrophy, Hypomyelinating, 11:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 occasional (7.5%) HP:0001251
2 spasticity 33 occasional (7.5%) HP:0001257
3 tremor 33 occasional (7.5%) HP:0001337
4 abnormality of the dentition 33 occasional (7.5%) HP:0000164
5 myopia 33 occasional (7.5%) HP:0000545
6 cerebellar atrophy 33 occasional (7.5%) HP:0001272
7 intellectual disability 33 HP:0001249
8 global developmental delay 33 HP:0001263
9 hypoplasia of the corpus callosum 33 HP:0002079
10 leukodystrophy 33 HP:0002415

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
tremor
leukodystrophy
delayed psychomotor development
spasticity (in some patients)
more
Head And Neck Teeth:
dental abnormalities (in some patients)

Head And Neck Eyes:
myopia (in some patients)

Head And Neck Head:
head titubations (in some patients)

Clinical features from OMIM:

616494

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 11

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 11

Genetic Tests for Leukodystrophy, Hypomyelinating, 11

Genetic tests related to Leukodystrophy, Hypomyelinating, 11:

# Genetic test Affiliating Genes
1 Leukodystrophy, Hypomyelinating, 11 30 POLR1C

Anatomical Context for Leukodystrophy, Hypomyelinating, 11

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 11:

42
Brain, Eye

Publications for Leukodystrophy, Hypomyelinating, 11

Articles related to Leukodystrophy, Hypomyelinating, 11:

# Title Authors Year
1
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. ( 26151409 )
2015

Variations for Leukodystrophy, Hypomyelinating, 11

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 11:

76 (show all 11)
# Symbol AA change Variation ID SNP ID
1 POLR1C p.Thr26Ile VAR_074655 rs796052126
2 POLR1C p.Asn32Ile VAR_074656 rs796052124
3 POLR1C p.Met65Val VAR_074657 rs141471029
4 POLR1C p.Asn74Ser VAR_074658 rs371802902
5 POLR1C p.Val94Ala VAR_074659 rs130500625
6 POLR1C p.Arg109His VAR_074660 rs796052127
7 POLR1C p.Gly132Asp VAR_074661 rs201320592
8 POLR1C p.Cys146Arg VAR_074662 rs796052125
9 POLR1C p.Arg191Gln VAR_074663 rs373046018
10 POLR1C p.Ile262Thr VAR_074664 rs751006626
11 POLR1C p.Glu324Lys VAR_074666

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 11:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLR1C NM_203290.4(POLR1C): c.221A> G (p.Asn74Ser) single nucleotide variant Pathogenic rs371802902 GRCh38 Chromosome 6, 43519412: 43519412
2 POLR1C NM_203290.4(POLR1C): c.221A> G (p.Asn74Ser) single nucleotide variant Pathogenic rs371802902 GRCh37 Chromosome 6, 43487150: 43487150
3 POLR1C NM_203290.4(POLR1C): c.95A> T (p.Asn32Ile) single nucleotide variant Pathogenic rs796052124 GRCh37 Chromosome 6, 43485069: 43485069
4 POLR1C NM_203290.4(POLR1C): c.95A> T (p.Asn32Ile) single nucleotide variant Pathogenic rs796052124 GRCh38 Chromosome 6, 43517331: 43517331
5 POLR1C NM_203290.4(POLR1C): c.436T> C (p.Cys146Arg) single nucleotide variant Pathogenic rs796052125 GRCh37 Chromosome 6, 43487857: 43487857
6 POLR1C NM_203290.4(POLR1C): c.436T> C (p.Cys146Arg) single nucleotide variant Pathogenic rs796052125 GRCh38 Chromosome 6, 43520119: 43520119
7 POLR1C NM_203290.2(POLR1C): c.883_885delAAG (p.Lys295del) deletion Likely pathogenic rs875989826 GRCh37 Chromosome 6, 43488747: 43488749
8 POLR1C NM_203290.2(POLR1C): c.883_885delAAG (p.Lys295del) deletion Likely pathogenic rs875989826 GRCh38 Chromosome 6, 43521009: 43521011
9 POLR1C NM_203290.4(POLR1C): c.77C> T (p.Thr26Ile) single nucleotide variant Pathogenic rs796052126 GRCh37 Chromosome 6, 43485051: 43485051
10 POLR1C NM_203290.4(POLR1C): c.77C> T (p.Thr26Ile) single nucleotide variant Pathogenic rs796052126 GRCh38 Chromosome 6, 43517313: 43517313
11 POLR1C NM_203290.4(POLR1C): c.326G> A (p.Arg109His) single nucleotide variant Pathogenic rs796052127 GRCh38 Chromosome 6, 43519782: 43519782
12 POLR1C NM_203290.4(POLR1C): c.326G> A (p.Arg109His) single nucleotide variant Pathogenic rs796052127 GRCh37 Chromosome 6, 43487520: 43487520
13 POLR1C NM_203290.3(POLR1C): c.614delG (p.Gly205Alafs) deletion Pathogenic rs1057519456 GRCh37 Chromosome 6, 43488124: 43488124
14 POLR1C NM_203290.3(POLR1C): c.614delG (p.Gly205Alafs) deletion Pathogenic rs1057519456 GRCh38 Chromosome 6, 43520386: 43520386
15 POLR1C NM_203290.3(POLR1C): c.88C> T (p.Pro30Ser) single nucleotide variant Pathogenic rs1057519455 GRCh38 Chromosome 6, 43517324: 43517324
16 POLR1C NM_203290.3(POLR1C): c.88C> T (p.Pro30Ser) single nucleotide variant Pathogenic rs1057519455 GRCh37 Chromosome 6, 43485062: 43485062
17 POLR1C NM_001318876.1(POLR1C): c.110A> G (p.Asp37Gly) single nucleotide variant Uncertain significance rs1004141332 GRCh37 Chromosome 6, 43485084: 43485084
18 POLR1C NM_001318876.1(POLR1C): c.110A> G (p.Asp37Gly) single nucleotide variant Uncertain significance rs1004141332 GRCh38 Chromosome 6, 43517346: 43517346
19 POLR1C NM_203290.3(POLR1C): c.364T> A (p.Phe122Ile) single nucleotide variant Likely pathogenic rs1554131502 GRCh38 Chromosome 6, 43519820: 43519820
20 POLR1C NM_203290.3(POLR1C): c.364T> A (p.Phe122Ile) single nucleotide variant Likely pathogenic rs1554131502 GRCh37 Chromosome 6, 43487558: 43487558

Expression for Leukodystrophy, Hypomyelinating, 11

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 11.

Pathways for Leukodystrophy, Hypomyelinating, 11

GO Terms for Leukodystrophy, Hypomyelinating, 11

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