RDLKD
MCID: RTN231
MIFTS: 15

Retinal Dystrophy with Leukodystrophy (RDLKD)

Categories: Genetic diseases

Aliases & Classifications for Retinal Dystrophy with Leukodystrophy

MalaCards integrated aliases for Retinal Dystrophy with Leukodystrophy:

Name: Retinal Dystrophy with Leukodystrophy 56 29 6
Rdlkd 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 56 618863

Summaries for Retinal Dystrophy with Leukodystrophy

OMIM : 56 Retinal dystrophy and leukodystrophy (RDLKD) is a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism. Patients exhibit ataxia and spastic paraparesis as well as developmental delay, and may show facial dysmorphism (Ferdinandusse et al., 2017). (618863)

MalaCards based summary : Retinal Dystrophy with Leukodystrophy, is also known as rdlkd. An important gene associated with Retinal Dystrophy with Leukodystrophy is ACBD5 (Acyl-CoA Binding Domain Containing 5). Affiliated tissues include testes and pons.

Related Diseases for Retinal Dystrophy with Leukodystrophy

Symptoms & Phenotypes for Retinal Dystrophy with Leukodystrophy

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
waddling gait
truncal titubation
hypomyelination
wide-based gait
increased pyramidal tone
more
Muscle Soft Tissue:
proximal muscle weakness
gowers sign

Skeletal Skull:
progressive microcephaly

Head And Neck Nose:
tubular nose

Head And Neck Eyes:
hypotelorism
retinal dystrophy
ptosis, bilateral
rotatory nystagmus

Head And Neck Head:
progressive microcephaly

Head And Neck Ears:
prominent ears

Laboratory Abnormalities:
abnormal very-long chain fatty acid (vlcfa) profile

Clinical features from OMIM:

618863

Drugs & Therapeutics for Retinal Dystrophy with Leukodystrophy

Search Clinical Trials , NIH Clinical Center for Retinal Dystrophy with Leukodystrophy

Genetic Tests for Retinal Dystrophy with Leukodystrophy

Genetic tests related to Retinal Dystrophy with Leukodystrophy:

# Genetic test Affiliating Genes
1 Retinal Dystrophy with Leukodystrophy 29 ACBD5

Anatomical Context for Retinal Dystrophy with Leukodystrophy

MalaCards organs/tissues related to Retinal Dystrophy with Leukodystrophy:

40
Testes, Pons

Publications for Retinal Dystrophy with Leukodystrophy

Articles related to Retinal Dystrophy with Leukodystrophy:

# Title Authors PMID Year
1
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. 6 56
27799409 2017
2
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 56 6
23105016 2013

Variations for Retinal Dystrophy with Leukodystrophy

ClinVar genetic disease variations for Retinal Dystrophy with Leukodystrophy:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACBD5 NM_145698.4:c.626-689_937-234delins936+1075_c.936+1230invindel Pathogenic 870223
2 ACBD5 NM_145698.5(ACBD5):c.1204+1G>ASNV Pathogenic 242989 rs867451420 10:27499742-27499742 10:27210813-27210813

Expression for Retinal Dystrophy with Leukodystrophy

Search GEO for disease gene expression data for Retinal Dystrophy with Leukodystrophy.

Pathways for Retinal Dystrophy with Leukodystrophy

GO Terms for Retinal Dystrophy with Leukodystrophy

Sources for Retinal Dystrophy with Leukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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