HLD14
MCID: LKD027
MIFTS: 26

Leukodystrophy, Hypomyelinating, 14 (HLD14)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 14

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 14:

Name: Leukodystrophy, Hypomyelinating, 14 57 73 28 5
Hypomyelinating Leukodystrophy 14 11 14
Hld14 57 73
Leukodystrophy, Hypomyelinating, Type 14 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in early infancy
most patients die in the first years of life
high prevalence among the roma population


Classifications:



Summaries for Leukodystrophy, Hypomyelinating, 14

OMIM®: 57 Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (617899) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 14, also known as hypomyelinating leukodystrophy 14, is related to hypomyelinating leukodystrophy and leukodystrophy. An important gene associated with Leukodystrophy, Hypomyelinating, 14 is UFM1 (Ubiquitin Fold Modifier 1). Affiliated tissues include cerebellum and brain, and related phenotypes are hearing impairment and blindness

UniProtKB/Swiss-Prot: 73 An autosomal recessive, severe disorder characterized by atrophy of the basal ganglia and cerebellum, hypomyelination, severe developmental delay, typically without intentional movements and language development, and microcephaly. Almost all patients exhibit spasticity, extrapyramidal movement abnormalities, and severe drug- resistant epilepsy. Disease onset is early in infancy, and most patients die in the first years of life.

Disease Ontology: 11 A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has material basis in homozygous mutation in the UFM1 gene on chromosome 13q13.

Related Diseases for Leukodystrophy, Hypomyelinating, 14

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 14

Human phenotypes related to Leukodystrophy, Hypomyelinating, 14:

30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 30 Very rare (1%) HP:0000365
2 blindness 30 Very rare (1%) HP:0000618
3 intellectual disability 30 HP:0001249
4 seizure 30 HP:0001250
5 spasticity 30 HP:0001257
6 respiratory insufficiency 30 HP:0002093
7 microcephaly 30 HP:0000252
8 absent speech 30 HP:0001344
9 growth delay 30 HP:0001510
10 dystonia 30 HP:0001332
11 feeding difficulties 30 HP:0011968
12 cerebellar atrophy 30 HP:0001272
13 cerebral atrophy 30 HP:0002059
14 generalized hypotonia 30 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
intellectual disability
spasticity
absent speech
dystonia
cerebellar atrophy
more
Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly

Head And Neck Ears:
hearing loss (in some patients)

Head And Neck Face:
dysmorphic facial features (in some patients)

Head And Neck Eyes:
nystagmus
strabismus
blindness (in some patients)

Respiratory:
respiratory insufficiency

Abdomen Gastrointestinal:
feeding difficulties

Growth Other:
poor growth

Clinical features from OMIM®:

617899 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 14

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 14

Genetic Tests for Leukodystrophy, Hypomyelinating, 14

Genetic tests related to Leukodystrophy, Hypomyelinating, 14:

# Genetic test Affiliating Genes
1 Leukodystrophy, Hypomyelinating, 14 28 UFM1

Anatomical Context for Leukodystrophy, Hypomyelinating, 14

Organs/tissues related to Leukodystrophy, Hypomyelinating, 14:

MalaCards : Cerebellum, Brain

Publications for Leukodystrophy, Hypomyelinating, 14

Articles related to Leukodystrophy, Hypomyelinating, 14:

# Title Authors PMID Year
1
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 57 5
29868776 2018
2
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. 57 5
28931644 2017
3
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 57
27545674 2016
4
A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy. 62
36082649 2022

Variations for Leukodystrophy, Hypomyelinating, 14

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 14:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UFM1 NM_016617.4(UFM1):c.241C>T (p.Arg81Cys) SNV Pathogenic
559446 rs1033946108 GRCh37: 13:38934898-38934898
GRCh38: 13:38360761-38360761
2 UFM1 NM_001286704.1(UFM1):c.-273_-271del DEL Pathogenic/Likely Pathogenic
495149 rs747359907 GRCh37: 13:38923902-38923904
GRCh38: 13:38349765-38349767
3 UFM1 NM_016617.4(UFM1):c.140G>A (p.Ser47Asn) SNV Uncertain Significance
1027884 rs1879200093 GRCh37: 13:38932252-38932252
GRCh38: 13:38358115-38358115
4 UFM1 NM_016617.4(UFM1):c.2+25A>T SNV Benign
1684234 GRCh37: 13:38924083-38924083
GRCh38: 13:38349946-38349946

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 14:

73
# Symbol AA change Variation ID SNP ID
1 UFM1 p.Arg81Cys VAR_081218 rs1033946108

Expression for Leukodystrophy, Hypomyelinating, 14

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 14.

Pathways for Leukodystrophy, Hypomyelinating, 14

GO Terms for Leukodystrophy, Hypomyelinating, 14

Sources for Leukodystrophy, Hypomyelinating, 14

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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