Leukodystrophy, Progressive, Early Childhood-Onset disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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)

HPO:

³²

leukodystrophy, progressive, early childhood-onset:
Onset and clinical course progressive

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 617762

Orphanet ⁵⁹ ORPHA502444

MedGen ⁴² C4540358 CN603947

MeSH ⁴⁴ D020279

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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 and polyneuropathy, adult-onset. 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

Description from OMIM: 617762

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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	10.3
2	ataxia and polyneuropathy, adult-onset	10.1

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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 Nose:
prominent nose

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 Eyes:
optic disc pallor
thick eyebrows

Genitourinary Bladder:
neurogenic bladder

Skeletal:
contractures

Head And Neck Mouth:
prominent lower lip

Clinical features from OMIM:

617762

Human phenotypes related to Leukodystrophy, Progressive, Early Childhood-Onset:

³² (show all 15)

#	Description	HPO Source Accession
1	intellectual disability ³²	HP:0001249
2	spasticity ³²	HP:0001257
3	developmental regression ³²	HP:0002376
4	coarse facial features ³²	HP:0000280
5	smooth philtrum ³²	HP:0000319
6	thick eyebrow ³²	HP:0000574
7	peripheral neuropathy ³²	HP:0009830
8	developmental stagnation ³²	HP:0007281
9	dystonia ³²	HP:0001332
10	areflexia ³²	HP:0001284
11	optic disc pallor ³²	HP:0000543
12	sloping forehead ³²	HP:0000340
13	hypoplasia of the corpus callosum ³²	HP:0002079
14	cerebral atrophy ³²	HP:0002059
15	leukodystrophy ³²	HP:0002415

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

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

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Genetic Tests for Leukodystrophy, Progressive, Early Childhood-Onset

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Anatomical Context for Leukodystrophy, Progressive, Early Childhood-Onset

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

⁴¹

Brain

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Publications for Leukodystrophy, Progressive, Early Childhood-Onset

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

#	Title	Authors	Year
1	Correction: Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain. ( 29360825 )	Wang K...Mao C	2018
2	Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain. ( 26474409 )	Wang K....Mao C.	2015

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Genes for Leukodystrophy, Progressive, Early Childhood-Onset

Genes related to Leukodystrophy, Progressive, Early Childhood-Onset (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ACER3	Alkaline Ceramidase 3	Protein Coding	1300	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Unconfirmed association ⁵⁷	26792856

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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
3	ACER3	NM_018367.6(ACER3): c.607C> T (p.Arg203Ter)	single nucleotide variant	Uncertain significance	rs782709009	GRCh38	Chromosome 11, 77016682: 77016682
4	ACER3	NM_018367.6(ACER3): c.607C> T (p.Arg203Ter)	single nucleotide variant	Uncertain significance	rs782709009	GRCh37	Chromosome 11, 76727726: 76727726

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Expression for Leukodystrophy, Progressive, Early Childhood-Onset

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

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Pathways for Leukodystrophy, Progressive, Early Childhood-Onset

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GO Terms for Leukodystrophy, Progressive, Early Childhood-Onset

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Sources for Leukodystrophy, Progressive, Early Childhood-Onset

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⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Leukodystrophy, Progressive, Early Childhood-Onset (PLDECO)

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Leukodystrophy, Progressive, Early Childhood-Onset

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:

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Leukodystrophy, Progressive, Early Childhood-Onset:

Drugs & Therapeutics 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:

Publications for Leukodystrophy, Progressive, Early Childhood-Onset

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

Genes for Leukodystrophy, Progressive, Early Childhood-Onset

Genes related to Leukodystrophy, Progressive, Early Childhood-Onset (1 elite genes):

Variations for Leukodystrophy, Progressive, Early Childhood-Onset

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

Expression 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