PFCRD
MCID: PRX072
MIFTS: 28

Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder (PFCRD)

Categories: Bone diseases, 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 57 58 72 36 29 6 70
Pfcrd 57 58 72
Fatty Acyl-Coa Reductase 1 Deficiency 58
Far1 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
fatty acyl-coa reductase 1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
peroxisomal fatty acyl-coa reductase 1 disorder:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder, also known as pfcrd, is related to rhizomelic chondrodysplasia punctata and alacrima, achalasia, and mental retardation syndrome, 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 intellectual disability and global developmental delay

KEGG : 36 Peroxisomal fatty acyl-CoA reductase 1 (FAR1) disorder is a peroxisomal disorder, that is also referred to as rhizomelic chondrodysplasia punctata type 4 (RCDP4). It is characterized by syndromic severe intellectual disability with cataracts, epilepsy, and growth retardation but without rhizomelia or skeletal abnormalities. Mutations in FAR1, producing fatty alcohols used in plasmalogen biosynthesis, were recently shown to cause this disease.

UniProtKB/Swiss-Prot : 72 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 11.6
2 alacrima, achalasia, and mental retardation syndrome 10.4
3 microcephaly 10.4
4 cataract 10.4
5 spasticity 10.4
6 chondrodysplasia punctata syndrome 10.3
7 epilepsy 10.3

Graphical network of the top 20 diseases related to Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder:



Diseases related to Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

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

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

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 spastic tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001285
6 juvenile cataract 58 31 frequent (33%) Frequent (79-30%) HP:0001118
7 progressive microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000253
8 seizure 31 frequent (33%) HP:0001250
9 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
10 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
11 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
12 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
13 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
14 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
15 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
16 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
17 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
18 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
19 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
20 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
21 difficulty standing 58 31 occasional (7.5%) Occasional (29-5%) HP:0003698
22 growth delay 58 31 Frequent (79-30%) HP:0001510
23 seizures 58 Frequent (79-30%)
24 spasticity 31 HP:0001257
25 coarse facial features 31 HP:0000280
26 cataract 31 HP:0000518
27 microcephaly 31 HP:0000252
28 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 Mouth:
thin upper lip

Head And Neck Eyes:
high-arched eyebrows
cataracts

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 (Updated 20-May-2021)

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 29 FAR1

Anatomical Context for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

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

40
Eye

Publications for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

Articles related to Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder:

# Title Authors PMID Year
1
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. 6 57
25439727 2014
2
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 57
26220973 2015
3
The many faces of peroxisomal disorders: Lessons from a large Arab cohort. 61
30561787 2019

Variations for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAR1 NM_032228.6(FAR1):c.787C>T (p.Arg263Ter) SNV Pathogenic 162213 rs724159962 GRCh37: 11:13733493-13733493
GRCh38: 11:13711946-13711946
2 FAR1 NM_032228.6(FAR1):c.1094A>G (p.Asp365Gly) SNV Pathogenic 162214 rs724159963 GRCh37: 11:13736194-13736194
GRCh38: 11:13714647-13714647
3 FAR1 NM_032228.6(FAR1):c.495_507delinsT (p.Glu165_Pro169delinsAsp) Indel Pathogenic 162212 rs727502796 GRCh37: 11:13729576-13729588
GRCh38: 11:13708029-13708041
4 FAR1 NM_032228.6(FAR1):c.772G>A (p.Gly258Arg) SNV Likely pathogenic 800893 rs1591268116 GRCh37: 11:13733478-13733478
GRCh38: 11:13711931-13711931
5 FAR1 NM_032228.6(FAR1):c.286G>A (p.Glu96Lys) SNV Uncertain significance 719360 rs12793516 GRCh37: 11:13721960-13721960
GRCh38: 11:13700413-13700413
6 FAR1 NM_032228.6(FAR1):c.1016A>G (p.Asn339Ser) SNV Uncertain significance 973461 GRCh37: 11:13736116-13736116
GRCh38: 11:13714569-13714569

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

72
# Symbol AA change Variation ID SNP ID
1 FAR1 p.Asp365Gly VAR_072693 rs724159963

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:

36
# 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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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