Leukodystrophy, Hypomyelinating, 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

External Ids:

Disease Ontology ¹² DOID:0060792

OMIM ⁵⁸ 616494

MeSH ⁴⁵ D020279

ICD10 ³⁴ G11.1

MedGen ⁴³ C4225305 CN231734

SNOMED-CT via HPO ⁷⁰ 192781003 204043002 221360009 more

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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 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.

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Related Diseases for Leukodystrophy, Hypomyelinating, 11

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

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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

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Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 11

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

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Genetic Tests for Leukodystrophy, Hypomyelinating, 11

Genetic tests related to Leukodystrophy, Hypomyelinating, 11:

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

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Anatomical Context for Leukodystrophy, Hypomyelinating, 11

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

⁴²

Brain

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Publications for Leukodystrophy, Hypomyelinating, 11

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Genes for Leukodystrophy, Hypomyelinating, 11

Genes related to Leukodystrophy, Hypomyelinating, 11 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	POLR1C	RNA Polymerase I And III Subunit C	Protein Coding	1328.79	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	26151409 22855961
2	YIPF3	Yip1 Domain Family Member 3	Protein Coding	8.24	GeneCards inferred via : Variants (show sections)

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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_203290.3(POLR1C): c.883_885delAAG (p.Lys295del)	deletion	Likely pathogenic	rs875989826	GRCh37	Chromosome 6, 43488747: 43488749
8	POLR1C	NM_203290.3(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.88C> T (p.Pro30Ser)	single nucleotide variant	Pathogenic	rs1057519455	GRCh38	Chromosome 6, 43517324: 43517324
14	POLR1C	NM_203290.3(POLR1C): c.88C> T (p.Pro30Ser)	single nucleotide variant	Pathogenic	rs1057519455	GRCh37	Chromosome 6, 43485062: 43485062
15	POLR1C	NM_203290.3(POLR1C): c.614delG (p.Gly205Alafs)	deletion	Pathogenic	rs1057519456	GRCh37	Chromosome 6, 43488124: 43488124
16	POLR1C	NM_203290.3(POLR1C): c.614delG (p.Gly205Alafs)	deletion	Pathogenic	rs1057519456	GRCh38	Chromosome 6, 43520386: 43520386
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

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Expression for Leukodystrophy, Hypomyelinating, 11

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

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Pathways for Leukodystrophy, Hypomyelinating, 11

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GO Terms for Leukodystrophy, Hypomyelinating, 11

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HLD11 MCID: LKD021 MIFTS: 23	Leukodystrophy, Hypomyelinating, 11 (HLD11) Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

Leukodystrophy, Hypomyelinating, 11 (HLD11)

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 11

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 11:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Leukodystrophy, Hypomyelinating, 11

Related Diseases for Leukodystrophy, Hypomyelinating, 11

Diseases in the Hypomyelinating Leukodystrophy family:

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 11

Human phenotypes related to Leukodystrophy, Hypomyelinating, 11:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 11

Genetic Tests for Leukodystrophy, Hypomyelinating, 11

Genetic tests related to Leukodystrophy, Hypomyelinating, 11:

Anatomical Context for Leukodystrophy, Hypomyelinating, 11

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

Publications for Leukodystrophy, Hypomyelinating, 11

Genes for Leukodystrophy, Hypomyelinating, 11

Genes related to Leukodystrophy, Hypomyelinating, 11 (1 elite genes):

Variations for Leukodystrophy, Hypomyelinating, 11

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

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 11:

Expression for Leukodystrophy, Hypomyelinating, 11

Pathways for Leukodystrophy, Hypomyelinating, 11

GO Terms for Leukodystrophy, Hypomyelinating, 11

Sources for Leukodystrophy, Hypomyelinating, 11