DEAPLE
MCID: DFN389
MIFTS: 13

Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy (DEAPLE)

Categories: Ear diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Deafness, Congenital, and Adult-Onset Progressive...

MalaCards integrated aliases for Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy:

Name: Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy 57
Deaple 57

Characteristics:

OMIM®:

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

Miscellaneous:
variable phenotype
progressive disorder
onset of deafness in infancy
neurologic decline in the second or third decades
premature death (in some patients)


Classifications:



External Ids:

OMIM® 57 619196

Summaries for Deafness, Congenital, and Adult-Onset Progressive...

OMIM® : 57 Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE) is an autosomal recessive complex neurodegenerative disorder characterized by congenital neurosensory deafness followed by onset of neurodegenerative symptoms, including pyramidal signs and cognitive decline, in young adulthood. Some patients may have mild developmental delay or learning difficulties in childhood, but most can function independently. The onset of motor and cognitive decline in adulthood can be rapid and may result in early death. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy (summary by Scheidecker et al., 2019). (619196) (Updated 05-Mar-2021)

MalaCards based summary : Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy, is also known as deaple. An important gene associated with Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy is KARS1 (Lysyl-TRNA Synthetase 1). Affiliated tissues include brain.

Related Diseases for Deafness, Congenital, and Adult-Onset Progressive...

Symptoms & Phenotypes for Deafness, Congenital, and Adult-Onset Progressive...

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Laboratory Abnormalities:
increased serum lactate
increased lactate in brain white matter
deficiencies of mitochondrial respiratory complexes i and iv

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
affective disorder

Head And Neck Eyes:
optic atrophy (in some patients)
visual impairment (in some patients)

Neurologic Central Nervous System:
dystonia
leukoencephalopathy
neurodegeneration
cerebellar ataxia
learning difficulties (in some patients)
more
Head And Neck Ears:
sensorineural deafness

Neurologic Peripheral Nervous System:
axonal sensory peripheral neuropathy (in some patients)

Clinical features from OMIM®:

619196 (Updated 05-Mar-2021)

Drugs & Therapeutics for Deafness, Congenital, and Adult-Onset Progressive...

Search Clinical Trials , NIH Clinical Center for Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy

Genetic Tests for Deafness, Congenital, and Adult-Onset Progressive...

Anatomical Context for Deafness, Congenital, and Adult-Onset Progressive...

MalaCards organs/tissues related to Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy:

40
Brain

Publications for Deafness, Congenital, and Adult-Onset Progressive...

Articles related to Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy:

# Title Authors PMID Year
1
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. 57
31116475 2019
2
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. 57
30737337 2019
3
Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism. 57
28887846 2017

Variations for Deafness, Congenital, and Adult-Onset Progressive...

Expression for Deafness, Congenital, and Adult-Onset Progressive...

Search GEO for disease gene expression data for Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy.

Pathways for Deafness, Congenital, and Adult-Onset Progressive...

GO Terms for Deafness, Congenital, and Adult-Onset Progressive...

Sources for Deafness, Congenital, and Adult-Onset Progressive...

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
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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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