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PLDECO
MCID: LKD026
MIFTS: 26
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Leukodystrophy, Progressive, Early Childhood-Onset (PLDECO)
Categories:
Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukodystrophy, Progressive, Early Childhood-Onset:
Characteristics:Inheritance:
Autosomal recessive 57
Prevelance:
Alkaline Ceramidase 3 Deficiency:
<1/1000000 (Worldwide) 58
Age Of Onset:
Alkaline Ceramidase 3 Deficiency:
Infancy 58
OMIM®:57 (Updated 08-Dec-2022)
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) HPO:30Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases
Orphanet: 58
Rare neurological diseases |
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Orphanet: 58 A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature, and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination. MalaCards based summary: Leukodystrophy, Progressive, Early Childhood-Onset, also known as alkaline ceramidase 3 deficiency, is related to aceruloplasminemia and colitis. An important gene associated with Leukodystrophy, Progressive, Early Childhood-Onset is ACER3 (Alkaline Ceramidase 3). Affiliated tissues include brain, and related phenotypes are intellectual disability and spasticity UniProtKB/Swiss-Prot: 73 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.
More information from OMIM:
617762
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Diseases related to Leukodystrophy, Progressive, Early Childhood-Onset via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Leukodystrophy, Progressive, Early Childhood-Onset:30 (show all 22)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:617762 (Updated 08-Dec-2022) |
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Organs/tissues related to Leukodystrophy, Progressive, Early Childhood-Onset:
MalaCards :
Brain
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Articles related to Leukodystrophy, Progressive, Early Childhood-Onset:
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Genes related to Leukodystrophy, Progressive, Early Childhood-Onset (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukodystrophy, Progressive, Early Childhood-Onset:5
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Progressive, Early Childhood-Onset:73
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Search
GEO
for disease gene expression data for Leukodystrophy, Progressive, Early Childhood-Onset.
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