HLD10
MCID: LKD020
MIFTS: 47

Leukodystrophy, Hypomyelinating, 10 (HLD10)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 10

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 10:

Name: Leukodystrophy, Hypomyelinating, 10 57 73
Hypomyelinating Leukodystrophy 10 11 28 5 14
Hld10 57 11 73
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy 58
Leukodystrophy, Hypomyelinating, Type 10 38

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Pycr2-Related Microcephaly-Progressive Leukoencephalopathy: <1/1000000 (Worldwide) 58

Age Of Onset:

Pycr2-Related Microcephaly-Progressive Leukoencephalopathy: Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder
onset at birth or in first months of life
death often occurs in first decade


HPO:

30
leukodystrophy, hypomyelinating, 10:
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Leukodystrophy, Hypomyelinating, 10

Orphanet: 58 PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

MalaCards based summary: Leukodystrophy, Hypomyelinating, 10, also known as hypomyelinating leukodystrophy 10, is related to hypomyelinating leukodystrophy and leukodystrophy. An important gene associated with Leukodystrophy, Hypomyelinating, 10 is PYCR2 (Pyrroline-5-Carboxylate Reductase 2), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and superpathway of L-citrulline metabolism. Affiliated tissues include brain, skeletal muscle and eye, and related phenotypes are intellectual disability and failure to thrive

OMIM®: 57 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) (Updated 08-Dec-2022)

Disease Ontology: 11 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: 73 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

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 Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Leukodystrophy, Hypomyelinating, 20 Leukodystrophy, Hypomyelinating, 21
Leukodystrophy, Hypomyelinating, 22 Leukodystrophy, Hypomyelinating, 24

Diseases related to Leukodystrophy, Hypomyelinating, 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 hypomyelinating leukodystrophy 29.6 PYCR2 POLR3B POLR3A HYCC1 HIKESHI
2 leukodystrophy 28.4 PYCR2 POLR3B POLR3A HYCC1 HIKESHI EIF2B4
3 borderline glaucoma 10.2 PYCR3 PYCR1
4 autosomal recessive cutis laxa type i 10.2 PYCR1 ALDH18A1
5 polr3-related leukodystrophy 10.2 POLR3B POLR3A
6 cutis laxa, autosomal recessive, type iiib 10.1 PYCR1 ALDH18A1
7 cutis laxa, autosomal dominant 3 10.1 PYCR1 ALDH18A1
8 cutis laxa, autosomal recessive, type iiia 10.1 PYCR1 ALDH18A1
9 cutis laxa, autosomal recessive, type iia 10.1 PYCR1 ALDH18A1
10 cutis laxa, autosomal recessive, type ib 10.1 PYCR1 ALDH18A1
11 cerebrooculofacioskeletal syndrome 2 10.1 POLR3B POLR3A
12 microcephaly 10.1
13 movement disease 10.1
14 hypotonia 10.1
15 spasticity 10.1
16 cerebellofaciodental syndrome 10.1 POLR3B POLR3A
17 boucher-neuhauser syndrome 10.1 POLR3B POLR3A
18 autosomal recessive cutis laxa type iii 10.0 PYCR2 PYCR1 ALDH18A1
19 wrinkly skin syndrome 10.0 PYCR1 ALDH18A1
20 leukodystrophy, hypomyelinating, 6 10.0 PYCR2 POLR3B POLR3A
21 autosomal recessive cutis laxa type ii classic type 10.0 PYCR2 PYCR1 ALDH18A1
22 leukodystrophy, hypomyelinating, 3 10.0 POLR3A HYCC1
23 gordon holmes syndrome 10.0 POLR3B POLR3A
24 leukodystrophy, hypomyelinating, 5 10.0 POLR3A HYCC1
25 geroderma osteodysplasticum 9.9 PYCR1 ALDH18A1
26 cutis laxa, autosomal recessive, type iib 9.9 PYCR3 PYCR2 PYCR1 ALDH18A1
27 cutis laxa 9.9 PYCR3 PYCR2 PYCR1 ALDH18A1
28 glycogen storage disease xv 9.9 EIF2B4 EIF2B3
29 dystonia 11, myoclonic 9.8 POLR3B POLR3A
30 leukodystrophy, hypomyelinating, 11 9.8 POLR3B POLR3A HIKESHI EIF2B3
31 leukoencephalopathy, hereditary diffuse, with spheroids 1 9.8 EIF2B4 EIF2B3
32 mitochondrial dna depletion syndrome 13 9.8 UNC80 FBXL4
33 leukodystrophy, hypomyelinating, 4 9.8 PYCR2 POLR3A HYCC1 HIKESHI
34 pelizaeus-merzbacher disease 9.7 POLR3B POLR3A HYCC1 HIKESHI
35 childhood ataxia with central nervous system hypomyelination / vanishing white matter 9.7 EIF2B4 EIF2B3 EIF2B2
36 hemangioma of intra-abdominal structure 9.7 EIF2B4 EIF2B3 EIF2B2
37 combined saposin deficiency 9.7 EIF2B4 EIF2B3 EIF2B2
38 mehmo syndrome 9.7 EIF2B4 EIF2B3 EIF2B2
39 spastic ataxia 4 9.7 POLR3B FBXL4 EIF2B2
40 hypomyelinating leukoencephalopathy 9.5 POLR3B POLR3A HYCC1 HIKESHI EIF2B2
41 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.4 POLR3B HIKESHI EIF2B4 EIF2B3 EIF2B2
42 cerebral degeneration 9.4 POLR3B POLR3A EIF2B4 EIF2B3 EIF2B2
43 leukoencephalopathy with vanishing white matter 9.4 POLR3B POLR3A EIF2B4 EIF2B3 EIF2B2
44 spastic ataxia 8 9.3 PYCR2 POLR3B HYCC1 HIKESHI EIF2B4 EIF2B3
45 leukodystrophy, hypomyelinating, 9 9.2 POLR3B POLR3A HYCC1 HIKESHI EIF2B4 EIF2B3
46 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 9.2 POLR3B POLR3A HYCC1 HIKESHI EIF2B4 EIF2B3
47 leukodystrophy, hypomyelinating, 12 9.2 PYCR2 HYCC1 HIKESHI EIF2B4 EIF2B3 EIF2B2
48 leukodystrophy, hypomyelinating, 13 9.0 PYCR2 POLR3B HYCC1 HIKESHI EIF2B4 EIF2B3

Graphical network of the top 20 diseases related to Leukodystrophy, Hypomyelinating, 10:



Diseases related to Leukodystrophy, Hypomyelinating, 10

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 10

Human phenotypes related to Leukodystrophy, Hypomyelinating, 10:

58 30 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
3 absent speech 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001344
4 severe global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011344
5 feeding difficulties 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011968
6 inability to walk 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002540
7 progressive microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000253
8 spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001257
9 developmental regression 58 30 Frequent (33%) Frequent (79-30%)
HP:0002376
10 vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002013
11 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
12 low-set ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000369
13 protruding ear 58 30 Frequent (33%) Frequent (79-30%)
HP:0000411
14 bulbous nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000414
15 hypoplasia of the maxilla 58 30 Frequent (33%) Frequent (79-30%)
HP:0000327
16 hypoplasia of the corpus callosum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002079
17 cns hypomyelination 58 30 Frequent (33%) Frequent (79-30%)
HP:0003429
18 hyperintensity of cerebral white matter on mri 58 30 Frequent (33%) Frequent (79-30%)
HP:0030890
19 severe demyelination of the white matter 58 30 Frequent (33%) Frequent (79-30%)
HP:0007258
20 hypotonia 30 Frequent (33%) HP:0001252
21 seizure 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0001250
22 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001274
23 hyperreflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001347
24 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
25 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
26 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
27 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
28 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
29 macrotia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000400
30 pectus carinatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000768
31 smooth philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000319
32 anteverted nares 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000463
33 broad thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011304
34 flexion contracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001371
35 irritability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000737
36 arachnodactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001166
37 downslanted palpebral fissures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000494
38 upslanted palpebral fissure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000582
39 overfolded helix 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000396
40 long philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000343
41 hip dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002827
42 thin vermilion border 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000233
43 triangular face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000325
44 difficulty walking 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002355
45 bilateral tonic-clonic seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002069
46 aggressive behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000718
47 cerebral visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100704
48 poor speech 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002465
49 esotropia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000565
50 thoracic kyphoscoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005659

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
hyperreflexia
cerebral atrophy
inability to walk
hyperkinetic movements
more
Head And Neck Nose:
short nose
bulbous nose
upturned nose

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

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

Growth Other:
failure to thrive
poor overall growth

Head And Neck Face:
smooth philtrum
long philtrum
triangular face
malar hypoplasia
bitemporal narrowing
more
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 (Updated 08-Dec-2022)

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

25 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased OCT4 protein expression GR00184-A-2 10.39 EIF2B2 EIF2B3 EIF2B4
2 Decreased OCT4 protein expression GR00184-A-5 10.39 EIF2B2 EIF2B3 EIF2B4
3 Decreased OCT4 protein expression GR00184-A-7 10.39 EIF2B2 EIF2B3 EIF2B4
4 Decreased NANOG protein expression GR00184-A-3 10.29 EIF2B2 EIF2B3 EIF2B4
5 Decreased NANOG protein expression GR00184-A-6 10.29 EIF2B2 EIF2B3 EIF2B4
6 Decreased NANOG protein expression GR00184-A-8 10.29 EIF2B2 EIF2B3 EIF2B4
7 Decreased POU5F1-GFP protein expression GR00184-A-1 9.8 EIF2B2 EIF2B3 EIF2B4
8 Decreased POU5F1-GFP protein expression GR00184-A-4 9.8 EIF2B2 EIF2B3 EIF2B4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.68 EIF2B2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.68 EIF2B2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.68 PYCR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.68 EIF2B4 PYCR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.68 EIF2B2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.68 EIF2B2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.68 EIF2B4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.68 EIF2B4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.68 EIF2B4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.68 POLR3B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.68 EIF2B2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.68 EIF2B2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.68 POLR3B PYCR2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.68 PYCR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.68 PYCR2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.68 PYCR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.68 PYCR2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.68 EIF2B2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.68 EIF2B2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.68 EIF2B4
29 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.68 POLR3B
30 Negative genetic interaction between MUS81-/- and MUS81+/+ GR00255-A-2 9.26 ALDH18A1 EIF2B3 EIF2B4 FBXL4

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 10:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 ALDH18A1 EIF2B2 EIF2B3 EIF2B4 FBXL4 HIKESHI

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 10

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

Genetic Tests for Leukodystrophy, Hypomyelinating, 10

Genetic tests related to Leukodystrophy, Hypomyelinating, 10:

# Genetic test Affiliating Genes
1 Hypomyelinating Leukodystrophy 10 28 PYCR2

Anatomical Context for Leukodystrophy, Hypomyelinating, 10

Organs/tissues related to Leukodystrophy, Hypomyelinating, 10:

MalaCards : Brain, Skeletal Muscle, Eye
ODiseA: Peripheral Nerve, Brain

Publications for Leukodystrophy, Hypomyelinating, 10

Articles related to Leukodystrophy, Hypomyelinating, 10:

# Title Authors PMID Year
1
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. 57 5
27130255 2016
2
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. 57 5
25865492 2015
3
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 62 5
27860360 2017
4
Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10. 62
34037307 2021
5
Genetic analysis of Pycr1 and Pycr2 in mice. 62
33734376 2021
6
PYCR2 Mutation Causing Hypomyelination and Microcephaly in an Indian Child. 62
34055512 2021
7
PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye. 62
32645307 2020

Variations for Leukodystrophy, Hypomyelinating, 10

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 10:

5 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PYCR2 NM_013328.4(PYCR2):c.751C>T (p.Arg251Cys) SNV Pathogenic
192394 rs876657403 GRCh37: 1:226108954-226108954
GRCh38: 1:225921254-225921254
2 PYCR2 NM_013328.4(PYCR2):c.694T>G (p.Cys232Gly) SNV Pathogenic
254250 rs886037933 GRCh37: 1:226109011-226109011
GRCh38: 1:225921311-225921311
3 PYCR2 NM_013328.4(PYCR2):c.773T>C (p.Val258Ala) SNV Pathogenic
254248 rs886037932 GRCh37: 1:226108932-226108932
GRCh38: 1:225921232-225921232
4 PYCR2 NM_013328.4(PYCR2):c.354dup (p.Arg119fs) DUP Pathogenic
1323507 GRCh37: 1:226109743-226109744
GRCh38: 1:225922043-225922044
5 PYCR2 NM_013328.4(PYCR2):c.796C>T (p.Arg266Ter) SNV Pathogenic
254247 rs886037931 GRCh37: 1:226108909-226108909
GRCh38: 1:225921209-225921209
6 PYCR2 NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys) SNV Pathogenic/Likely Pathogenic
192393 rs372781135 GRCh37: 1:226109743-226109743
GRCh38: 1:225922043-225922043
7 PYCR2 NM_013328.4(PYCR2):c.595C>T (p.Arg199Trp) SNV Pathogenic/Likely Pathogenic
254249 rs758595075 GRCh37: 1:226109290-226109290
GRCh38: 1:225921590-225921590
8 PYCR2 NM_013328.4(PYCR2):c.356G>A (p.Arg119His) SNV Likely Pathogenic
429628 rs149587849 GRCh37: 1:226109742-226109742
GRCh38: 1:225922042-225922042
9 PYCR2 NM_013328.4(PYCR2):c.402_403del (p.Tyr135fs) MICROSAT Likely Pathogenic
929953 rs1671854739 GRCh37: 1:226109695-226109696
GRCh38: 1:225921995-225921996
10 PYCR2 NM_013328.4(PYCR2):c.257T>G (p.Val86Gly) SNV Likely Pathogenic
872904 rs1671863383 GRCh37: 1:226109965-226109965
GRCh38: 1:225922265-225922265
11 PYCR2 NM_013328.4(PYCR2):c.400G>A (p.Val134Met) SNV Likely Pathogenic
872905 rs1671854827 GRCh37: 1:226109698-226109698
GRCh38: 1:225921998-225921998
12 PYCR2 NM_013328.4(PYCR2):c.318+1G>A SNV Likely Pathogenic
1324974 GRCh37: 1:226109903-226109903
GRCh38: 1:225922203-225922203
13 PYCR2 NM_013328.4(PYCR2):c.676C>T (p.Gln226Ter) SNV Likely Pathogenic
1334633 rs201784173 GRCh37: 1:226109029-226109029
GRCh38: 1:225921329-225921329
14 PYCR2 NM_013328.4(PYCR2):c.40G>C (p.Ala14Pro) SNV Likely Pathogenic
1188580 GRCh37: 1:226111771-226111771
GRCh38: 1:225924071-225924071
15 PYCR2 NM_013328.4(PYCR2):c.139-2A>C SNV Likely Pathogenic
436454 rs1553500497 GRCh37: 1:226110085-226110085
GRCh38: 1:225922385-225922385
16 PYCR2 NM_013328.4(PYCR2):c.752G>A (p.Arg251His) SNV Uncertain Significance
992853 GRCh37: 1:226108953-226108953
GRCh38: 1:225921253-225921253
17 PYCR2 NM_013328.4(PYCR2):c.67+6C>A SNV Uncertain Significance
1031778 rs1015928060 GRCh37: 1:226111738-226111738
GRCh38: 1:225924038-225924038
18 PYCR2 NM_013328.4(PYCR2):c.678G>T (p.Gln226His) SNV Uncertain Significance
1032575 rs1671830683 GRCh37: 1:226109027-226109027
GRCh38: 1:225921327-225921327
19 PYCR2 NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg) SNV Uncertain Significance
800754 rs1239964151 GRCh37: 1:226109569-226109569
GRCh38: 1:225921869-225921869
20 PYCR2 NM_013328.4(PYCR2):c.797+14G>A SNV Benign
1166899 GRCh37: 1:226108894-226108894
GRCh38: 1:225921194-225921194
21 PYCR2 NM_013328.4(PYCR2):c.797+9A>C SNV Benign
1167877 GRCh37: 1:226108899-226108899
GRCh38: 1:225921199-225921199

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

73
# Symbol AA change Variation ID SNP ID
1 PYCR2 p.Arg119Cys VAR_074608 rs372781135
2 PYCR2 p.Arg251Cys VAR_074609 rs876657403

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

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase III complex GO:0005666 9.26 POLR3B POLR3A
2 DNA-directed RNA polymerase complex GO:0000428 9.16 POLR3B POLR3A
3 eukaryotic translation initiation factor 2B complex GO:0005851 9.1 EIF2B4 EIF2B3 EIF2B2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.97 EIF2B4 EIF2B3 EIF2B2
2 response to glucose GO:0009749 9.95 EIF2B4 EIF2B3 EIF2B2
3 translational initiation GO:0006413 9.93 EIF2B4 EIF2B3 EIF2B2
4 myelination GO:0042552 9.91 HYCC1 EIF2B4 EIF2B2
5 response to peptide hormone GO:0043434 9.88 EIF2B4 EIF2B3 EIF2B2
6 response to heat GO:0009408 9.85 EIF2B2 EIF2B3 EIF2B4
7 oligodendrocyte development GO:0014003 9.73 EIF2B4 EIF2B3 EIF2B2
8 L-proline biosynthetic process GO:0055129 9.56 PYCR3 PYCR2 PYCR1 ALDH18A1
9 amino acid biosynthetic process GO:0008652 9.46 PYCR3 PYCR2 PYCR1 ALDH18A1
10 cellular metabolic process GO:0044237 9.32 EIF2B4 EIF2B2
11 proline biosynthetic process GO:0006561 9.17 PYCR3 PYCR2 PYCR1 ALDH18A1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.62 POLR3B POLR3A
2 oxidoreductase activity GO:0016491 9.56 PYCR3 PYCR2 PYCR1 ALDH18A1
3 nucleotidyltransferase activity GO:0016779 9.46 POLR3B POLR3A EIF2B3
4 translation initiation factor activity GO:0003743 9.43 EIF2B4 EIF2B3 EIF2B2
5 pyrroline-5-carboxylate reductase activity GO:0004735 9.1 PYCR3 PYCR2 PYCR1

Sources for Leukodystrophy, Hypomyelinating, 10

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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