HLD12
MCID: LKD023
MIFTS: 24

Leukodystrophy, Hypomyelinating, 12 (HLD12)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 12

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 12:

Name: Leukodystrophy, Hypomyelinating, 12 58 76 6
Hld12 58 12 76
Vps11-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy 60
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy 60
Hypomyelinating Leukodystrophy 12 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset between 3 and 8 months of age
increased frequency in ashkenazi jewish population


HPO:

33
leukodystrophy, hypomyelinating, 12:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Leukodystrophy, Hypomyelinating, 12

OMIM : 58 Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616683)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 12, is also known as hld12. An important gene associated with Leukodystrophy, Hypomyelinating, 12 is VPS11 (VPS11 Core Subunit Of CORVET And HOPS Complexes). Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has material basis in homozygous mutation in the VPS11 gene on chromosome 11q23.

UniProtKB/Swiss-Prot : 76 Leukodystrophy, hypomyelinating, 12: An autosomal recessive neurologic disorder characterized by developmental delay, spasticity, truncal hypotonia, acquired microcephaly, intellectual disability with variable seizure disorder, accompanied by thin corpus callosum, paucity of white matter and delayed myelination.

Related Diseases for Leukodystrophy, Hypomyelinating, 12

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 12

Human phenotypes related to Leukodystrophy, Hypomyelinating, 12:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
4 cerebral visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100704
5 central hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0011398
6 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
7 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
8 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
9 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
10 absent speech 60 33 frequent (33%) Frequent (79-30%) HP:0001344
11 growth delay 60 33 frequent (33%) Frequent (79-30%) HP:0001510
12 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
13 multiple joint contractures 60 33 frequent (33%) Frequent (79-30%) HP:0002828
14 febrile seizures 60 33 frequent (33%) Frequent (79-30%) HP:0002373
15 hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0002079
16 diffuse white matter abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0007204
17 abnormality of the periventricular white matter 60 33 frequent (33%) Frequent (79-30%) HP:0002518
18 neurogenic bladder 60 33 frequent (33%) Frequent (79-30%) HP:0000011
19 poor speech 60 33 frequent (33%) Frequent (79-30%) HP:0002465
20 delayed cns myelination 60 33 frequent (33%) Frequent (79-30%) HP:0002188
21 oromotor apraxia 60 33 frequent (33%) Frequent (79-30%) HP:0007301
22 abnormal autonomic nervous system physiology 33 frequent (33%) HP:0012332
23 cerebellar atrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0001272
24 seizures 60 Very frequent (99-80%)
25 dysautonomia 60 Frequent (79-30%)
26 coarse facial features 60 Excluded (0%)
27 hearing impairment 33 HP:0000365
28 flexion contracture 33 HP:0001371
29 severe global developmental delay 33 HP:0011344
30 developmental stagnation 33 HP:0007281
31 reduced visual acuity 33 HP:0007663
32 focal impaired awareness seizure 33 HP:0002384
33 postnatal microcephaly 33 HP:0005484
34 hepatosplenomegaly 60 Excluded (0%)
35 muscular hypotonia of the trunk 33 HP:0008936
36 cerebral hypomyelination 33 HP:0006808
37 delayed myelination 33 HP:0012448
38 temperature instability 33 HP:0005968

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
spasticity
delayed myelination
autonomic dysfunction
delayed psychomotor development
more
Head And Neck Eyes:
optic atrophy
cortical visual impairment

Muscle Soft Tissue:
truncal hypotonia

Head And Neck Mouth:
oromotor dysfunction

Abdomen Gastrointestinal:
constipation
oromotor dysfunction

Head And Neck Ears:
hearing loss

Growth Other:
poor overall growth

Head And Neck Head:
microcephaly, acquired (up to -3 sd)

Clinical features from OMIM:

616683

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 12

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 12

Genetic Tests for Leukodystrophy, Hypomyelinating, 12

Anatomical Context for Leukodystrophy, Hypomyelinating, 12

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 12:

42
Brain, Eye

Publications for Leukodystrophy, Hypomyelinating, 12

Articles related to Leukodystrophy, Hypomyelinating, 12:

# Title Authors Year
1
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. ( 27120463 )
2016
2
Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients. ( 26307567 )
2015

Variations for Leukodystrophy, Hypomyelinating, 12

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 12:

76
# Symbol AA change Variation ID SNP ID
1 VPS11 p.Cys846Gly VAR_076393

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS11 NM_021729.5(VPS11): c.2536T> G (p.Cys846Gly) single nucleotide variant Pathogenic rs34757931 GRCh38 Chromosome 11, 119081189: 119081189
2 VPS11 NM_021729.5(VPS11): c.2536T> G (p.Cys846Gly) single nucleotide variant Pathogenic rs34757931 GRCh37 Chromosome 11, 118951899: 118951899

Expression for Leukodystrophy, Hypomyelinating, 12

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 12.

Pathways for Leukodystrophy, Hypomyelinating, 12

GO Terms for Leukodystrophy, Hypomyelinating, 12

Sources for Leukodystrophy, Hypomyelinating, 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....