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

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0060788

OMIM® ⁵⁷ 616420

OMIM Phenotypic Series ⁵⁷ PS312080

MeSH ⁴³ D020279

Orphanet ⁵⁸ ORPHA481152

MedGen ⁴⁰ C4225332 CN231317

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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.

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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	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:

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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

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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

Genetic tests related to Leukodystrophy, Hypomyelinating, 10:

#	Genetic test	Affiliating Genes
1	Hypomyelinating Leukodystrophy 10 ²⁸	PYCR2

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Anatomical Context for Leukodystrophy, Hypomyelinating, 10

Organs/tissues related to Leukodystrophy, Hypomyelinating, 10:

MalaCards : Brain, Skeletal Muscle, Eye

ODiseA: Peripheral Nerve, Brain

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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	Zaki MS...Gleeson JG	27130255	2016
2	Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. ⁵⁷ ⁵	Nakayama T...Mochida GH	25865492	2015
3	Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. ⁶² ⁵	Meng L...Elsea SH	27860360	2017
4	Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10. ⁶²	Manaspon C...Shotelersuk V	34037307	2021
5	Genetic analysis of Pycr1 and Pycr2 in mice. ⁶²	Stum MG...Burgess RW	33734376	2021
6	PYCR2 Mutation Causing Hypomyelination and Microcephaly in an Indian Child. ⁶²	Srivastava P...Sarkar N	34055512	2021
7	PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye. ⁶²	Rakotomamonjy J...Guemez-Gamboa A	32645307	2020

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Genes for Leukodystrophy, Hypomyelinating, 10

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

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PYCR2	Pyrroline-5-Carboxylate Reductase 2	Protein Coding	1690.81	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	25865492 27130255 27860360
2	PYCR3	Pyrroline-5-Carboxylate Reductase 3	Protein Coding	6.18	DISEASES inferred ¹⁴
3	PYCR1	Pyrroline-5-Carboxylate Reductase 1	Protein Coding	6.07	DISEASES inferred ¹⁴
4	POLR3B	RNA Polymerase III Subunit B	Protein Coding	5.98	DISEASES inferred ¹⁴
5	HIKESHI	Heat Shock Protein Nuclear Import Factor Hikeshi	Protein Coding	5.92	DISEASES inferred ¹⁴
6	POLR3A	RNA Polymerase III Subunit A	Protein Coding	5.7	DISEASES inferred ¹⁴
7	ALDH18A1	Aldehyde Dehydrogenase 18 Family Member A1	Protein Coding	5.61	DISEASES inferred ¹⁴
8	UNC80	Unc-80 Homolog, NALCN Channel Complex Subunit	Protein Coding	5.49	DISEASES inferred ¹⁴
9	EIF2B3	Eukaryotic Translation Initiation Factor 2B Subunit Gamma	Protein Coding	5.39	DISEASES inferred ¹⁴
10	HYCC1	Hyccin PI4KA Lipid Kinase Complex Subunit 1	Protein Coding	5.34	DISEASES inferred ¹⁴
11	EIF2B4	Eukaryotic Translation Initiation Factor 2B Subunit Delta	Protein Coding	5.32	DISEASES inferred ¹⁴
12	FBXL4	F-Box And Leucine Rich Repeat Protein 4	Protein Coding	5.29	DISEASES inferred ¹⁴
13	EIF2B2	Eukaryotic Translation Initiation Factor 2B Subunit Beta	Protein Coding	5.27	DISEASES inferred ¹⁴

Sources

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

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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	Regulation of expression of SLITs and ROBOs ⁶⁶ Show member pathways Metabolism of amino acids and derivatives ⁶⁶ Signaling by ROBO receptors ⁶⁶	12.51	PYCR3 PYCR2 PYCR1 ALDH18A1
2	superpathway of L-citrulline metabolism ⁶¹ Show member pathways citrulline-nitric oxide cycle ⁶¹ Effects of nitric oxide ⁷⁴ L-citrulline biosynthesis ⁶¹ nitric oxide biosynthesis II (mammals) ⁶¹ Nitric oxide metabolism in cystic fibrosis ⁷⁴ urea cycle ⁶¹ Urea cycle ⁶⁶ Urea cycle and associated pathways ⁷⁴ Urea cycle and metabolism of amino groups ⁷⁴	11.32	PYCR3 PYCR1 ALDH18A1
3	Translation factors ⁷⁴ Show member pathways nsp1 from SARS-CoV-2 inhibits translation initiation in the host cell ⁷⁴ Recycling of eIF2:GDP ⁶⁶	11	EIF2B4 EIF2B3 EIF2B2
4	Metabolic reprogramming in colon cancer ⁷⁴	10.88	PYCR2 PYCR1
5	Glutamate and glutamine metabolism ⁶⁶ Show member pathways L-glutamate and L-glutamine biosynthesis ⁶¹ L-ornithine biosynthesis II ⁶¹ L-proline biosynthesis I ⁶¹ ornithine de novo biosynthesis ⁶¹ proline biosynthesis ⁶¹	10.39	PYCR3 PYCR2 PYCR1 ALDH18A1

Sources

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

Sources for Leukodystrophy, Hypomyelinating, 10

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

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¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Leukodystrophy, Hypomyelinating, 10 (HLD10)

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 10

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 10:

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Inheritance:

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OMIM®:

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Summaries for Leukodystrophy, Hypomyelinating, 10

Related Diseases for Leukodystrophy, Hypomyelinating, 10

Diseases in the Hypomyelinating Leukodystrophy family:

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

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

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 10

Human phenotypes related to Leukodystrophy, Hypomyelinating, 10:

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Variations for Leukodystrophy, Hypomyelinating, 10

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 10:

UniProtKB/Swiss-Prot 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

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

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

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

Sources for Leukodystrophy, Hypomyelinating, 10