PFCRD
MCID: PRX072
MIFTS: 21

Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder (PFCRD)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

MalaCards integrated aliases for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder:

Name: Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 58 76 38 30 6 74
Pfcrd 58 76
Severe Intellectual Disability-Epilepsy-Cataract Syndrome Due to Fatty Acyl-Coa Reductase 1 Deficiency 60
Severe Intellectual Disability-Epilepsy-Cataract Syndrome Due to Peroxisomal Disorder 60
Severe Intellectual Disability-Epilepsy-Cataract Syndrome Due to Far1 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-coa reductase 1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
three patients from 2 families have been reported (last curated december 2014)


HPO:

33
peroxisomal fatty acyl-coa reductase 1 disorder:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

OMIM : 58 Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, 215100), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014). (616154)

MalaCards based summary : Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder, also known as pfcrd, is related to rhizomelic chondrodysplasia punctata, and has symptoms including seizures and muscle spasticity. An important gene associated with Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder is FAR1 (Fatty Acyl-CoA Reductase 1), and among its related pathways/superpathways is Peroxisome. Affiliated tissues include eye, and related phenotypes are cerebellar atrophy and intellectual disability

UniProtKB/Swiss-Prot : 76 Peroxisomal fatty acyl-CoA reductase 1 disorder: An autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.

Related Diseases for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

Diseases related to Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rhizomelic chondrodysplasia punctata 11.7

Symptoms & Phenotypes for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

Human phenotypes related to Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 cerebellar atrophy 33 occasional (7.5%) HP:0001272
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 spasticity 33 HP:0001257
5 coarse facial features 33 HP:0000280
6 macrotia 33 HP:0000400
7 cataract 33 HP:0000518
8 global developmental delay 33 HP:0001263
9 microcephaly 33 HP:0000252
10 long philtrum 33 HP:0000343
11 growth delay 33 HP:0001510
12 thin upper lip vermilion 33 HP:0000219
13 highly arched eyebrow 33 HP:0002553
14 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
spasticity
mental retardation
delayed psychomotor development, severe
cerebellar atrophy (1 patient)
more
Head And Neck Face:
long philtrum
coarse facies
dysmorphic facial features, mild

Head And Neck Eyes:
high-arched eyebrows
cataracts

Head And Neck Mouth:
thin upper lip

Laboratory Abnormalities:
decreased plasmalogen

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia

Growth Other:
growth retardation

Head And Neck Ears:
large ears

Head And Neck Nose:
flattened nasal root

Clinical features from OMIM:

616154

UMLS symptoms related to Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder:


seizures, muscle spasticity

Drugs & Therapeutics for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

Search Clinical Trials , NIH Clinical Center for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

Genetic Tests for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

Genetic tests related to Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder:

# Genetic test Affiliating Genes
1 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 30 FAR1

Anatomical Context for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

MalaCards organs/tissues related to Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder:

42
Eye

Publications for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

Variations for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

UniProtKB/Swiss-Prot genetic disease variations for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder:

76
# Symbol AA change Variation ID SNP ID
1 FAR1 p.Asp365Gly VAR_072693 rs724159963

ClinVar genetic disease variations for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FAR1 NM_032228.5(FAR1): c.495_507delAGTAGTCTATCCAinsT (p.Glu165_Pro169delinsAsp) indel Pathogenic rs727502796 GRCh37 Chromosome 11, 13729576: 13729588
2 FAR1 NM_032228.5(FAR1): c.495_507delAGTAGTCTATCCAinsT (p.Glu165_Pro169delinsAsp) indel Pathogenic rs727502796 GRCh38 Chromosome 11, 13708029: 13708041
3 FAR1 NM_032228.6(FAR1): c.787C> T (p.Arg263Ter) single nucleotide variant Pathogenic rs724159962 GRCh38 Chromosome 11, 13711946: 13711946
4 FAR1 NM_032228.6(FAR1): c.787C> T (p.Arg263Ter) single nucleotide variant Pathogenic rs724159962 GRCh37 Chromosome 11, 13733493: 13733493
5 FAR1 NM_032228.6(FAR1): c.1094A> G (p.Asp365Gly) single nucleotide variant Pathogenic rs724159963 GRCh38 Chromosome 11, 13714647: 13714647
6 FAR1 NM_032228.6(FAR1): c.1094A> G (p.Asp365Gly) single nucleotide variant Pathogenic rs724159963 GRCh37 Chromosome 11, 13736194: 13736194

Expression for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

Search GEO for disease gene expression data for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder.

Pathways for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

Pathways related to Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder according to KEGG:

38
# Name Kegg Source Accession
1 Peroxisome hsa04146

GO Terms for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

Sources for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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