Leukodystrophy, Hypomyelinating, 10 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HLD10 MCID: LKD020 MIFTS: 27	Leukodystrophy, Hypomyelinating, 10 (HLD10) Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 10

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 10:

Name: Leukodystrophy, Hypomyelinating, 10 ⁵⁸ ⁷⁶ ⁶

Hld10 ⁵⁸ ¹² ⁷⁶

Hypomyelinating Leukodystrophy 10 ¹² ¹⁵

Pycr2-Related Microcephaly-Progressive Leukoencephalopathy ⁶⁰

Leukodystrophy, Hypomyelinating, Type 10 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth or in first months of life
death often occurs in first decade

HPO:

³³

leukodystrophy, hypomyelinating, 10:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060788

OMIM ⁵⁸ 616420

MeSH ⁴⁵ D020279

Orphanet ⁶⁰ ORPHA481152

MedGen ⁴³ C4225332 CN231317

SNOMED-CT via HPO ⁷⁰ 103276001 111007000 128613002 more

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Summaries for Leukodystrophy, Hypomyelinating, 10

OMIM : ⁵⁸ Hypomyelinating leukodystrophy-10 is an autosomal recessive neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging (summary by Nakayama et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616420)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 10, is also known as hld10. An important gene associated with Leukodystrophy, Hypomyelinating, 10 is PYCR2 (Pyrroline-5-Carboxylate Reductase 2), and among its related pathways/superpathways are Viral mRNA Translation and Amino acid synthesis and interconversion (transamination). Affiliated tissues include brain, skeletal muscle and eye, and related phenotypes are nystagmus and seizures

Disease Ontology : ¹² A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has material basis in homozygous mutation in the PYCR2 gene on chromosome 1q42.

UniProtKB/Swiss-Prot : ⁷⁶ Leukodystrophy, hypomyelinating, 10: An autosomal recessive neurologic disorder characterized by postnatal microcephaly, severely delayed psychomotor development, hypomyelination, and reduced cerebral white-matter volume.

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Related Diseases for Leukodystrophy, Hypomyelinating, 10

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
Leukodystrophy, Hypomyelinating, 18

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Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 10

Human phenotypes related to Leukodystrophy, Hypomyelinating, 10:

³³ (show all 30)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³³	occasional (7.5%)	HP:0000639
2	seizures ³³	occasional (7.5%)	HP:0001250
3	malar flattening ³³		HP:0000272
4	low-set ears ³³		HP:0000369
5	spasticity ³³		HP:0001257
6	hyperreflexia ³³		HP:0001347
7	failure to thrive ³³		HP:0001508
8	hearing impairment ³³		HP:0000365
9	global developmental delay ³³		HP:0001263
10	short nose ³³		HP:0003196
11	thick vermilion border ³³		HP:0012471
12	smooth philtrum ³³		HP:0000319
13	anteverted nares ³³		HP:0000463
14	skeletal muscle atrophy ³³		HP:0003202
15	long philtrum ³³		HP:0000343
16	absent speech ³³		HP:0001344
17	babinski sign ³³		HP:0003487
18	inability to walk ³³		HP:0002540
19	cerebral cortical atrophy ³³		HP:0002120
20	arachnodactyly ³³		HP:0001166
21	downslanted palpebral fissures ³³		HP:0000494
22	upslanted palpebral fissure ³³		HP:0000582
23	bulbous nose ³³		HP:0000414
24	triangular face ³³		HP:0000325
25	hypoplasia of the corpus callosum ³³		HP:0002079
26	leukodystrophy ³³		HP:0002415
27	cns hypomyelination ³³		HP:0003429
28	muscular hypotonia of the trunk ³³		HP:0008936
29	narrow forehead ³³		HP:0000341
30	progressive microcephaly ³³		HP:0000253

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Ears:
low-set ears
hearing loss
large malformed ears

Growth Other:
failure to thrive
poor overall growth

Head And Neck Face:
smooth philtrum
long philtrum
triangular face
malar hypoplasia
bitemporal narrowing
more

Head And Neck Eyes:
downslanting palpebral fissures
nystagmus (in some patients)
upslanting palpebral fissures

Head And Neck Mouth:
full lips

Skeletal Feet:
hyperextensibility of the ankles

Neurologic Central Nervous System:
spasticity
hyperreflexia
inability to walk
cerebral atrophy
hypomyelination
more

Head And Neck Nose:
short nose
bulbous nose
upturned nose

Skeletal Hands:
arachnodactyly
hyperextensibility of the wrists

Muscle Soft Tissue:
muscle wasting
truncal hypotonia

Head And Neck Head:
microcephaly, postnatal, progressive (up to -7.7 sd)

Clinical features from OMIM:

616420

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Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 10

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 10

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Genetic Tests for Leukodystrophy, Hypomyelinating, 10

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Anatomical Context for Leukodystrophy, Hypomyelinating, 10

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 10:

⁴²

Brain, Skeletal Muscle, Eye

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Publications for Leukodystrophy, Hypomyelinating, 10

Articles related to Leukodystrophy, Hypomyelinating, 10:

#	Title	Authors	Year
1	PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. ( 27130255 )	Zaki MS...Gleeson JG	2016
2	Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. ( 25865492 )	Nakayama T...Mochida GH	2015

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Genes for Leukodystrophy, Hypomyelinating, 10

Genes related to Leukodystrophy, Hypomyelinating, 10 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PYCR2	Pyrroline-5-Carboxylate Reductase 2	Protein Coding	1587.02	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Causative variation ⁷⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	25865492 27130255
2	MIR6741	MicroRNA 6741	RNA Gene	8.1	GeneCards inferred via : Variants (show sections)

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Variations for Leukodystrophy, Hypomyelinating, 10

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 10:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	PYCR2	p.Arg119Cys	VAR_074608	rs372781135
2	PYCR2	p.Arg251Cys	VAR_074609	rs876657403

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 10:

⁶ (show all 18)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PYCR2	NM_013328.3(PYCR2): c.355C> T (p.Arg119Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs372781135	GRCh37	Chromosome 1, 226109743: 226109743
2	PYCR2	NM_013328.3(PYCR2): c.355C> T (p.Arg119Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs372781135	GRCh38	Chromosome 1, 225922043: 225922043
3	PYCR2	NM_013328.3(PYCR2): c.751C> T (p.Arg251Cys)	single nucleotide variant	Pathogenic	rs876657403	GRCh37	Chromosome 1, 226108954: 226108954
4	PYCR2	NM_013328.3(PYCR2): c.751C> T (p.Arg251Cys)	single nucleotide variant	Pathogenic	rs876657403	GRCh38	Chromosome 1, 225921254: 225921254
5	PYCR2	NM_013328.3(PYCR2): c.796C> T (p.Arg266Ter)	single nucleotide variant	Pathogenic	rs886037931	GRCh38	Chromosome 1, 225921209: 225921209
6	PYCR2	NM_013328.3(PYCR2): c.796C> T (p.Arg266Ter)	single nucleotide variant	Pathogenic	rs886037931	GRCh37	Chromosome 1, 226108909: 226108909
7	PYCR2	NM_013328.3(PYCR2): c.773T> C (p.Val258Ala)	single nucleotide variant	Pathogenic	rs886037932	GRCh38	Chromosome 1, 225921232: 225921232
8	PYCR2	NM_013328.3(PYCR2): c.773T> C (p.Val258Ala)	single nucleotide variant	Pathogenic	rs886037932	GRCh37	Chromosome 1, 226108932: 226108932
9	PYCR2	NM_013328.3(PYCR2): c.595C> T (p.Arg199Trp)	single nucleotide variant	Pathogenic	rs758595075	GRCh38	Chromosome 1, 225921590: 225921590
10	PYCR2	NM_013328.3(PYCR2): c.595C> T (p.Arg199Trp)	single nucleotide variant	Pathogenic	rs758595075	GRCh37	Chromosome 1, 226109290: 226109290
11	PYCR2	NM_013328.3(PYCR2): c.694T> G (p.Cys232Gly)	single nucleotide variant	Pathogenic	rs886037933	GRCh38	Chromosome 1, 225921311: 225921311
12	PYCR2	NM_013328.3(PYCR2): c.694T> G (p.Cys232Gly)	single nucleotide variant	Pathogenic	rs886037933	GRCh37	Chromosome 1, 226109011: 226109011
13	PYCR2	NM_013328.3(PYCR2): c.758_759insCT (p.Leu254Cysfs)	insertion	Pathogenic	rs886043378	GRCh37	Chromosome 1, 226108946: 226108947
14	PYCR2	NM_013328.3(PYCR2): c.758_759insCT (p.Leu254Cysfs)	insertion	Pathogenic	rs886043378	GRCh38	Chromosome 1, 225921246: 225921247
15	PYCR2	NM_013328.3(PYCR2): c.356G> A (p.Arg119His)	single nucleotide variant	Likely pathogenic	rs149587849	GRCh37	Chromosome 1, 226109742: 226109742
16	PYCR2	NM_013328.3(PYCR2): c.356G> A (p.Arg119His)	single nucleotide variant	Likely pathogenic	rs149587849	GRCh38	Chromosome 1, 225922042: 225922042
17	PYCR2	NM_013328.3(PYCR2): c.139-2A> C	single nucleotide variant	Likely pathogenic	rs1553500497	GRCh37	Chromosome 1, 226110085: 226110085
18	PYCR2	NM_013328.3(PYCR2): c.139-2A> C	single nucleotide variant	Likely pathogenic	rs1553500497	GRCh38	Chromosome 1, 225922385: 225922385

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Expression for Leukodystrophy, Hypomyelinating, 10

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 10.

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Pathways for Leukodystrophy, Hypomyelinating, 10

Pathways related to Leukodystrophy, Hypomyelinating, 10 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Viral mRNA Translation ⁶⁷ Show member pathways Cap-dependent Translation Initiation ⁶⁷ CFTR translational fidelity (class I mutations) ²³ Cysteine formation from homocysteine ⁶⁷ Cytoplasmic Ribosomal Proteins ¹ Eukaryotic Translation Elongation ⁶⁷ Eukaryotic Translation Initiation ⁶⁷ Eukaryotic Translation Termination ⁶⁷ Formation of a pool of free 40S subunits ⁶⁷ glutathione redox reactions II ¹ GTP hydrolysis and joining of the 60S ribosomal subunit ⁶⁷ L13a-mediated translational silencing of Ceruloplasmin expression ⁶⁷ Metabolism of amino acids and derivatives ⁶⁷ Metabolism of ingested H2SeO4 and H2SeO3 into H2Se ⁶⁷ Metabolism of ingested SeMet, Sec, MeSec into H2Se ⁶⁷ Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) ⁶⁷ Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) ⁶⁷ Nonsense-Mediated Decay (NMD) ⁶⁷ Peptide chain elongation ⁶⁷ Ribosome ³⁸ Selenoamino acid metabolism ⁶⁷ Selenocysteine synthesis ⁶⁷ SRP-dependent cotranslational protein targeting to membrane ⁶⁷ sulfate activation for sulfonation ¹ Translation ⁶⁷	12.36	MIR6741 PYCR2
2	Amino acid synthesis and interconversion (transamination) ⁶⁷ Show member pathways asparagine biosynthesis ¹ Serine biosynthesis ⁶⁷	10.24	MIR6741 PYCR2

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GO Terms for Leukodystrophy, Hypomyelinating, 10

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Sources for Leukodystrophy, Hypomyelinating, 10

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Leukodystrophy, Hypomyelinating, 10 (HLD10)

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 10

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 10:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Leukodystrophy, Hypomyelinating, 10

Related Diseases for Leukodystrophy, Hypomyelinating, 10

Diseases in the Hypomyelinating Leukodystrophy family:

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 10

Human phenotypes related to Leukodystrophy, Hypomyelinating, 10:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 10

Genetic Tests for Leukodystrophy, Hypomyelinating, 10

Anatomical Context for Leukodystrophy, Hypomyelinating, 10

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 10:

Publications for Leukodystrophy, Hypomyelinating, 10

Articles related to Leukodystrophy, Hypomyelinating, 10:

Genes for Leukodystrophy, Hypomyelinating, 10

Genes related to Leukodystrophy, Hypomyelinating, 10 (1 elite genes):

Variations for Leukodystrophy, Hypomyelinating, 10

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 10:

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 10:

Expression for Leukodystrophy, Hypomyelinating, 10

Pathways for Leukodystrophy, Hypomyelinating, 10

Pathways related to Leukodystrophy, Hypomyelinating, 10 according to GeneCards Suite gene sharing:

GO Terms for Leukodystrophy, Hypomyelinating, 10

Sources for Leukodystrophy, Hypomyelinating, 10