HLD13
MCID: LKD022
MIFTS: 26

Leukodystrophy, Hypomyelinating, 13 (HLD13)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 13

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 13:

Name: Leukodystrophy, Hypomyelinating, 13 58 76 6
Hld13 58 12 76
Hypomyelinating Leukodystrophy 13 12 15
C11orf73-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy 60
C11orf73-Related Autosomal Recessive Hypomyelinating Leukodystrophy 60
Hypomyelinating Leukodystrophy Due to Hikeshi Deficiency 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
sudden death may occur
three families of ashkenazi jewish descent have been reported (last curated march 2016)


HPO:

33
leukodystrophy, hypomyelinating, 13:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leukodystrophy, Hypomyelinating, 13

OMIM : 58 Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616881)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 13, also known as hld13, is related to leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism. An important gene associated with Leukodystrophy, Hypomyelinating, 13 is HIKESHI (Hikeshi, Heat Shock Protein Nuclear Import Factor). Affiliated tissues include brain, heart and eye, and related phenotypes are ataxia and visual impairment

Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has material basis in homozygous mutation in the C11ORF73 gene on chromosome 11q14.

UniProtKB/Swiss-Prot : 76 Leukodystrophy, hypomyelinating, 13: An autosomal recessive neurodegenerative disorder with infantile onset, affecting mainly the central white matter. Clinical features include early feeding difficulties, global developmental delay, postnatal progressive microcephaly, truncal hypotonia, spasticity, and variable neurologic deficits, such as visual impairment.

Related Diseases for Leukodystrophy, Hypomyelinating, 13

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 13

Human phenotypes related to Leukodystrophy, Hypomyelinating, 13:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 occasional (7.5%) HP:0001251
2 visual impairment 33 occasional (7.5%) HP:0000505
3 optic atrophy 33 occasional (7.5%) HP:0000648
4 nystagmus 33 HP:0000639
5 spasticity 33 HP:0001257
6 failure to thrive 33 HP:0001508
7 clonus 33 HP:0002169
8 global developmental delay 33 HP:0001263
9 flexion contracture 33 HP:0001371
10 feeding difficulties 33 HP:0011968
11 absent speech 33 HP:0001344
12 generalized hypotonia 33 HP:0001290
13 leukodystrophy 33 HP:0002415
14 abnormality of the periventricular white matter 33 HP:0002518
15 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
optic atrophy (in some patients)
visual impairment (in some patients)

Growth Other:
failure to thrive

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
small head circumference, progressive, postnatal (up to -2 sd)

Neurologic Central Nervous System:
spasticity
hyperreflexia
clonus
hypertonia
delayed myelination
more
Abdomen Gastrointestinal:
feeding difficulties

Skeletal:
joint contractures

Cardiovascular Heart:
heart failure, associated with febrile illness

Clinical features from OMIM:

616881

GenomeRNAi Phenotypes related to Leukodystrophy, Hypomyelinating, 13 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with c-Myc after tamoxifen stimulation GR00215-A 8.62 CYP2D6 LMOD1

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 13

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 13

Genetic Tests for Leukodystrophy, Hypomyelinating, 13

Anatomical Context for Leukodystrophy, Hypomyelinating, 13

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 13:

42
Brain, Heart, Eye

Publications for Leukodystrophy, Hypomyelinating, 13

Variations for Leukodystrophy, Hypomyelinating, 13

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 13:

76
# Symbol AA change Variation ID SNP ID
1 HIKESHI p.Val54Leu VAR_076411 rs202003795

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HIKESHI NM_016401.3(HIKESHI): c.160G> C (p.Val54Leu) single nucleotide variant Pathogenic rs202003795 GRCh37 Chromosome 11, 86017416: 86017416
2 HIKESHI NM_016401.3(HIKESHI): c.160G> C (p.Val54Leu) single nucleotide variant Pathogenic rs202003795 GRCh38 Chromosome 11, 86306374: 86306374

Expression for Leukodystrophy, Hypomyelinating, 13

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 13.

Pathways for Leukodystrophy, Hypomyelinating, 13

GO Terms for Leukodystrophy, Hypomyelinating, 13

Sources for Leukodystrophy, Hypomyelinating, 13

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
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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
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