MCID: LKD027
MIFTS: 17

Leukodystrophy, Hypomyelinating, 14

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 14

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 14:

Name: Leukodystrophy, Hypomyelinating, 14 57 6
Hypomyelinating Leukodystrophy 14 12
Hld14 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
most patients die in the first years of life
high prevalence among the roma population


Classifications:



External Ids:

OMIM 57 617899
Disease Ontology 12 DOID:0080296

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)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 14, is also known as hypomyelinating leukodystrophy 14. An important gene associated with Leukodystrophy, Hypomyelinating, 14 is UFM1 (Ubiquitin Fold Modifier 1). Affiliated tissues include brain.

Related Diseases for Leukodystrophy, Hypomyelinating, 14

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 14

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
poor growth

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

Respiratory:
respiratory insufficiency

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly

Head And Neck Eyes:
blindness (in some patients)

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Central Nervous System:
nearly absent psychomotor development
intellectual disability
absent speech
lack of intentional movements
seizures, intractable
more

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:

41
Brain

Publications for Leukodystrophy, Hypomyelinating, 14

Variations for Leukodystrophy, Hypomyelinating, 14

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

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
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
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