MCID: LKD022
MIFTS: 25

Leukodystrophy, Hypomyelinating, 13

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 13

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 13:

Name: Leukodystrophy, Hypomyelinating, 13 57 75 6
Hld13 57 12 75
Hypomyelinating Leukodystrophy 13 12 15
C11orf73-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy 59
C11orf73-Related Autosomal Recessive Hypomyelinating Leukodystrophy 59
Hypomyelinating Leukodystrophy Due to Hikeshi Deficiency 59

Characteristics:

OMIM:

57
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:

32
leukodystrophy, hypomyelinating, 13:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



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)

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 visual impairment and nystagmus

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Leukodystrophy, Hypomyelinating, 13:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 occasional (7.5%) HP:0000505
2 nystagmus 32 HP:0000639
3 optic atrophy 32 occasional (7.5%) HP:0000648
4 ataxia 32 occasional (7.5%) HP:0001251
5 spasticity 32 HP:0001257
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290
8 flexion contracture 32 HP:0001371
9 failure to thrive 32 HP:0001508
10 clonus 32 HP:0002169
11 abnormality of the periventricular white matter 32 HP:0002518
12 feeding difficulties 32 HP:0011968
13 delayed myelination 32 HP:0012448

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

26
# 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:

41
Brain, Heart, Eye

Publications for Leukodystrophy, Hypomyelinating, 13

Variations for Leukodystrophy, Hypomyelinating, 13

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....