HLD13
MCID: LKD022
MIFTS: 24

Leukodystrophy, Hypomyelinating, 13 (HLD13)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 13

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 13:

Name: Leukodystrophy, Hypomyelinating, 13 57 72 29 6
Hld13 57 12 72
Hypomyelinating Leukodystrophy 13 12 15
C11orf73-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy 58
C11orf73-Related Autosomal Recessive Hypomyelinating Leukodystrophy 58
Hypomyelinating Leukodystrophy Due to Hikeshi Deficiency 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
leukodystrophy, hypomyelinating, 13:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Leukodystrophy, Hypomyelinating, 13

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 13, is also known as hld13. An important gene associated with Leukodystrophy, Hypomyelinating, 13 is HIKESHI (Heat Shock Protein Nuclear Import Factor Hikeshi). Affiliated tissues include eye, brain and heart, 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 : 72 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.

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 13

Human phenotypes related to Leukodystrophy, Hypomyelinating, 13:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 occasional (7.5%) HP:0001251
2 visual impairment 31 occasional (7.5%) HP:0000505
3 optic atrophy 31 occasional (7.5%) HP:0000648
4 spasticity 31 HP:0001257
5 failure to thrive 31 HP:0001508
6 clonus 31 HP:0002169
7 nystagmus 31 HP:0000639
8 global developmental delay 31 HP:0001263
9 flexion contracture 31 HP:0001371
10 absent speech 31 HP:0001344
11 leukodystrophy 31 HP:0002415
12 feeding difficulties 31 HP:0011968
13 generalized hypotonia 31 HP:0001290
14 abnormality of the periventricular white matter 31 HP:0002518
15 delayed myelination 31 HP:0012448

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
clonus
hypertonia
delayed myelination
more
Head And Neck Eyes:
nystagmus
optic atrophy (in some patients)
visual impairment (in some patients)

Muscle Soft Tissue:
hypotonia

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

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
feeding difficulties

Skeletal:
joint contractures

Cardiovascular Heart:
heart failure, associated with febrile illness

Clinical features from OMIM®:

616881 (Updated 20-May-2021)

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 13

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

Genetic Tests for Leukodystrophy, Hypomyelinating, 13

Genetic tests related to Leukodystrophy, Hypomyelinating, 13:

# Genetic test Affiliating Genes
1 Leukodystrophy, Hypomyelinating, 13 29 HIKESHI

Anatomical Context for Leukodystrophy, Hypomyelinating, 13

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

40
Eye, Brain, Heart

Publications for Leukodystrophy, Hypomyelinating, 13

Articles related to Leukodystrophy, Hypomyelinating, 13:

# Title Authors PMID Year
1
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene. 6 57
26545878 2016

Variations for Leukodystrophy, Hypomyelinating, 13

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 13:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HIKESHI NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu) SNV Pathogenic 224891 rs202003795 GRCh37: 11:86017416-86017416
GRCh38: 11:86306374-86306374
2 HIKESHI NM_016401.4(HIKESHI):c.325G>C (p.Ala109Pro) SNV Uncertain significance 1029600 GRCh37: 11:86048477-86048477
GRCh38: 11:86337435-86337435

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

72
# Symbol AA change Variation ID SNP ID
1 HIKESHI p.Val54Leu VAR_076411 rs202003795

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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