HLD14
MCID: LKD027
MIFTS: 22

Leukodystrophy, Hypomyelinating, 14 (HLD14)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 14

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 14:

Name: Leukodystrophy, Hypomyelinating, 14 58 76 6
Hld14 58 76
Hypomyelinating Leukodystrophy 14 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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 : 58 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)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 14, is also known as hld14. An important gene associated with Leukodystrophy, Hypomyelinating, 14 is UFM1 (Ubiquitin Fold Modifier 1). Affiliated tissues include brain, cerebellum and eye, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 76 Leukodystrophy, hypomyelinating, 14: 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.

Related Diseases for Leukodystrophy, Hypomyelinating, 14

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 14

Human phenotypes related to Leukodystrophy, Hypomyelinating, 14:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 spasticity 33 HP:0001257
4 absent speech 33 HP:0001344
5 dystonia 33 HP:0001332
6 cerebellar atrophy 33 HP:0001272
7 cerebral atrophy 33 HP:0002059

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
spasticity
absent speech
dystonia
cerebellar atrophy
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia

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

Respiratory:
respiratory insufficiency

Abdomen Gastrointestinal:
feeding difficulties

Growth Other:
poor growth

Head And Neck Eyes:
blindness (in some patients)

Clinical features from OMIM:

617899

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 14

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

Genetic Tests for Leukodystrophy, Hypomyelinating, 14

Anatomical Context for Leukodystrophy, Hypomyelinating, 14

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 14:

42
Brain, Cerebellum, Eye

Publications for Leukodystrophy, Hypomyelinating, 14

Articles related to Leukodystrophy, Hypomyelinating, 14:

# Title Authors Year
1
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. ( 29868776 )
2018
2
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. ( 28931644 )
2017

Variations for Leukodystrophy, Hypomyelinating, 14

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

76
# Symbol AA change Variation ID SNP ID
1 UFM1 p.Arg81Cys VAR_081218 rs103394610

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 14:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UFM1 NM_001286704.1(UFM1): c.-273_-271delTCA deletion Pathogenic rs747359907 GRCh37 Chromosome 13, 38923902: 38923904
2 UFM1 NM_001286704.1(UFM1): c.-273_-271delTCA deletion Pathogenic rs747359907 GRCh38 Chromosome 13, 38349765: 38349767
3 UFM1 NM_016617.3(UFM1): c.241C> T (p.Arg81Cys) single nucleotide variant Pathogenic rs1033946108 GRCh37 Chromosome 13, 38934898: 38934898
4 UFM1 NM_016617.3(UFM1): c.241C> T (p.Arg81Cys) single nucleotide variant Pathogenic rs1033946108 GRCh38 Chromosome 13, 38360761: 38360761

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

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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35 ICD10 via Orphanet
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55 NINDS
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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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