HLD10
MCID: LKD020
MIFTS: 27

Leukodystrophy, Hypomyelinating, 10 (HLD10)

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

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:



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.

Related Diseases for Leukodystrophy, Hypomyelinating, 10

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

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 10

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

Genetic Tests for Leukodystrophy, Hypomyelinating, 10

Anatomical Context for Leukodystrophy, Hypomyelinating, 10

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

42
Brain, Skeletal Muscle, Eye

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 )
2016
2
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. ( 25865492 )
2015

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

Expression for Leukodystrophy, Hypomyelinating, 10

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

Pathways for Leukodystrophy, Hypomyelinating, 10

GO Terms for Leukodystrophy, Hypomyelinating, 10

Sources for Leukodystrophy, Hypomyelinating, 10

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