MCID: LKD026
MIFTS: 18

Leukodystrophy, Progressive, Early Childhood-Onset

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leukodystrophy, Progressive, Early Childhood-Onset

MalaCards integrated aliases for Leukodystrophy, Progressive, Early Childhood-Onset:

Name: Leukodystrophy, Progressive, Early Childhood-Onset 57 75 6
Pldeco 57 75
Acer3-Related Early Childhood-Onset Progressive Leukodystrophy 59
Leukodystrophy Due to Alkaline Ceramidase 3 Deficiency 59
Alkaline Ceramidase 3 Deficiency 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset between 6 and 12 months of age
patients are severely impaired, needing mechanical ventilation and feeding tube
two sibs of ashkenazi jewish descent have been reported (last curated november 2017)


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 617762
Orphanet 59 ORPHA502444
MeSH 44 D020279

Summaries for Leukodystrophy, Progressive, Early Childhood-Onset

UniProtKB/Swiss-Prot : 75 Leukodystrophy, progressive, early childhood-onset: A form of leukodystrophy, a disorder of myelin production or maintenance affecting the central nervous system. PELCO features include neurological regression between 6 and 13 months of age, truncal hypotonia, appendicular spasticity, dystonia, optic disk pallor, peripheral neuropathy and neurogenic bladder. Brain imaging shows progressive diffuse abnormal white matter signals, cerebral atrophy, and thin corpus callosum. Sural nerve biopsy shows decreased myelination. PLDECO inheritance is autosomal recessive.

MalaCards based summary : Leukodystrophy, Progressive, Early Childhood-Onset, also known as pldeco, is related to aceruloplasminemia and ataxia-oculomotor apraxia 3. An important gene associated with Leukodystrophy, Progressive, Early Childhood-Onset is ACER3 (Alkaline Ceramidase 3). Affiliated tissues include brain.

Description from OMIM: 617762

Related Diseases for Leukodystrophy, Progressive, Early Childhood-Onset

Diseases related to Leukodystrophy, Progressive, Early Childhood-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 10.0
2 ataxia-oculomotor apraxia 3 10.0

Symptoms & Phenotypes for Leukodystrophy, Progressive, Early Childhood-Onset

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Face:
coarse facial features
sloping forehead
flat philtrum

Neurologic Peripheral Nervous System:
peripheral neuropathy
areflexia
sural nerve biopsy shows decreased myelination

Head And Neck Eyes:
optic disc pallor
thick eyebrows

Head And Neck Head:
macrocephaly, relative

Muscle Soft Tissue:
hypotonia, axial

Laboratory Abnormalities:
increased plasma levels of certain ceramides
increased plasma levels of complex sphingolipids

Neurologic Central Nervous System:
intellectual disability
spasticity
developmental regression
developmental stagnation
dystonia
more
Growth Height:
short stature

Head And Neck Nose:
prominent nose

Genitourinary Bladder:
neurogenic bladder

Skeletal:
contractures

Head And Neck Mouth:
prominent lower lip


Clinical features from OMIM:

617762

Drugs & Therapeutics for Leukodystrophy, Progressive, Early Childhood-Onset

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Progressive, Early Childhood-Onset

Genetic Tests for Leukodystrophy, Progressive, Early Childhood-Onset

Anatomical Context for Leukodystrophy, Progressive, Early Childhood-Onset

MalaCards organs/tissues related to Leukodystrophy, Progressive, Early Childhood-Onset:

41
Brain

Publications for Leukodystrophy, Progressive, Early Childhood-Onset

Articles related to Leukodystrophy, Progressive, Early Childhood-Onset:

# Title Authors Year
1
Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain. ( 26474409 )
2015

Variations for Leukodystrophy, Progressive, Early Childhood-Onset

ClinVar genetic disease variations for Leukodystrophy, Progressive, Early Childhood-Onset:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACER3 NM_001300953.1(ACER3): c.98A> G (p.Glu33Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 76572118: 76572118
2 ACER3 NM_001300953.1(ACER3): c.98A> G (p.Glu33Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 76861074: 76861074

Expression for Leukodystrophy, Progressive, Early Childhood-Onset

Search GEO for disease gene expression data for Leukodystrophy, Progressive, Early Childhood-Onset.

Pathways for Leukodystrophy, Progressive, Early Childhood-Onset

GO Terms for Leukodystrophy, Progressive, Early Childhood-Onset

Sources for Leukodystrophy, Progressive, Early Childhood-Onset

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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