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 57 75 6
Hld12 57 12 75
Vps11-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy 59
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy 59
Hypomyelinating Leukodystrophy 12 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
leukodystrophy, hypomyelinating, 12:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Leukodystrophy, Hypomyelinating, 12

OMIM : 57 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, CORVET/HOPS Core Subunit). Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and spasticity

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Leukodystrophy, Hypomyelinating, 12:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
3 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
7 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
8 absent speech 59 32 frequent (33%) Frequent (79-30%) HP:0001344
9 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
10 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
11 febrile seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002373
12 cerebellar atrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0001272
13 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
14 diffuse white matter abnormalities 59 32 frequent (33%) Frequent (79-30%) HP:0007204
15 multiple joint contractures 59 32 frequent (33%) Frequent (79-30%) HP:0002828
16 abnormality of the periventricular white matter 59 32 frequent (33%) Frequent (79-30%) HP:0002518
17 neurogenic bladder 59 32 frequent (33%) Frequent (79-30%) HP:0000011
18 poor speech 59 32 frequent (33%) Frequent (79-30%) HP:0002465
19 central hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011398
20 delayed cns myelination 59 32 frequent (33%) Frequent (79-30%) HP:0002188
21 oromotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0007301
22 seizures 59 Very frequent (99-80%)
23 dysautonomia 59 Frequent (79-30%)
24 coarse facial features 59 Excluded (0%)
25 hearing impairment 32 HP:0000365
26 flexion contracture 32 HP:0001371
27 severe global developmental delay 32 HP:0011344
28 developmental stagnation 32 HP:0007281
29 reduced visual acuity 32 HP:0007663
30 postnatal microcephaly 32 HP:0005484
31 hepatosplenomegaly 59 Excluded (0%)
32 cortical visual impairment 59 Very frequent (99-80%)
33 muscular hypotonia of the trunk 32 HP:0008936
34 cerebral hypomyelination 32 HP:0006808
35 abnormal autonomic nervous system physiology 32 frequent (33%) HP:0012332
36 delayed myelination 32 HP:0012448
37 temperature instability 32 HP:0005968
38 cerebral visual impairment 32 hallmark (90%) HP:0100704
39 focal impaired awareness seizure 32 HP:0002384

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:

41
Brain, Eye

Publications for Leukodystrophy, Hypomyelinating, 12

Variations for Leukodystrophy, Hypomyelinating, 12

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

75
# 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

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