LEPID
MCID: LKN032
MIFTS: 19

Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness (LEPID)

Categories: Ear diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

MalaCards integrated aliases for Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness:

Name: Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness 57
Lepid 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in infancy or early childhood
neurologic regression associated with infection or fever
premature death is common


Classifications:



External Ids:

OMIM® 57 619147

Summaries for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

OMIM® : 57 Infantile-onset progressive leukoencephalopathy with or without deafness (LEPID) is an autosomal recessive complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Most patients present with sensorineural deafness or hypoacousia and global developmental delay. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Additional more variable features may include poor overall growth with microcephaly, seizures, visual loss, microcytic anemia, and hepatic enlargement or abnormal liver enzymes. Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy. The brain and spinal cord are usually both involved; calcifications of these regions are often observed. Laboratory studies show increased serum lactate and deficiencies of mitochondrial respiratory chain complexes, consistent with global mitochondrial dysfunction. Early death often occurs (summary by Itoh et al., 2019). (619147) (Updated 05-Mar-2021)

MalaCards based summary : Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness, also known as lepid, is related to hereditary mixed polyposis syndrome and eye disease. An important gene associated with Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness is KARS1 (Lysyl-TRNA Synthetase 1). Affiliated tissues include spinal cord, brain and liver.

Related Diseases for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

Diseases related to Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary mixed polyposis syndrome 9.9
2 eye disease 9.9

Symptoms & Phenotypes for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
developmental regression
global developmental delay
cortical atrophy
spastic quadriplegia
more
Head And Neck Eyes:
nystagmus
poor visual fixation
visual impairment (in some patients)

Hematology:
microcytic anemia

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Ears:
sensorineural deafness

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

Head And Neck Face:
dysmorphic facial features, nonspecific

Growth Other:
failure to thrive
poor overall growth

Abdomen Liver:
hepatomegaly

Laboratory Abnormalities:
increased serum lactate
increased serum pyruvate
abnormal liver enzymes (in some patients)
decreased activities of mitochondrial respiratory enzyme complexes

Metabolic Features:
metabolic acidosis

Head And Neck Head:
microcephaly (in some patients)

Genitourinary Kidneys:
renal tubular acidosis (in some patients)

Clinical features from OMIM®:

619147 (Updated 05-Mar-2021)

Drugs & Therapeutics for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Mediastinal Staging Accuracy of a Selective Lymphadenectomy Strategy Based on Tumor Location, Ground Glass Opacity Component and Frozen Section Diagnosis in Peripheral cT1N0M0 Invasive Non-small Cell Lung Cancer Recruiting NCT03216551

Search NIH Clinical Center for Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness

Genetic Tests for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

Anatomical Context for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

MalaCards organs/tissues related to Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness:

40
Spinal Cord, Brain, Liver, Skin

Publications for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

Articles related to Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness:

(show all 20)
# Title Authors PMID Year
1
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy. 57
30715177 2019
2
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis. 57
30252186 2018
3
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature. 57
29615062 2018
4
Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism. 57
28887846 2017
5
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 57
26741492 2016
6
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease. 57
25330800 2015
7
Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration. 57
21964701 2011
8
Spinal cord calcification in an early-onset progressive leukoencephalopathy. 57
21427441 2011
9
A novel neurological disorder with progressive CNS calcification, deafness, renal tubular acidosis, and microcytic anemia. 57
9112970 1997
10
[Connection of virus carriage and acute infection, caused by nuclear polyhedrosis virus in native populations of silkworm (Lymantria dispar L., Lym. Lepid.)]. 61
12924100 2003
11
Effects of metals on the total lipid content in the gypsy moth (Lymantria dispar, Lymantriidae, Lepid.) and its hemolymph. 61
7579926 1995
12
Skin-piercing blood-sucking moths II: Studies on a further 3 adult Calyptra [Calpe] sp. (Lepid., Noctuidae). 61
35931 1979
13
[Immunization experiments for producing antibody-like substances in caterpillars of Mamestra brassicae L. (Insecta, Lepid., Noct.)]. 61
1211001 1975
14
Skin-piercing blood-sucking moths I: ecological and ethological studies on Calpe eustrigata (Lepid., noctuidae). 61
240258 1975
15
Insect neurometamorphosis. V. Fine structure of axons and neuroglia in the transforming interganglionic connectives of Galleria mellonella (L.) (Lepid optera). 61
4338500 1972
16
Lepid content of conidia of neurospora crassa. 61
6060645 1967
17
Observations on feeding habits of adult Westermanniinae (Lepid., Noctuidae) in Cambodia. 61
13805734 1959
18
Die Entwicklung des Genitalapparates bei triploiden Intersexen von Solenobia triquetrella F. R. (Lepid. Psychidae) Deutung des Intersexualitätsphänomens. 61
28354755 1958
19
Die Fortpflanzungsbiologie der Solenobien (Lepid. psychidae), Verhalten bei Artkreuzungen und F1-Resultate. 61
28354017 1956
20
[New chromosome formulas of the genus Erebia (Lepid. Rhopal)]. 61
13107127 1953

Variations for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

Expression for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

Search GEO for disease gene expression data for Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness.

Pathways for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

GO Terms for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

Sources for Leukoencephalopathy, Progressive, Infantile-Onset, with or...

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
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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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