MCID: PRX072
MIFTS: 21

Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Metabolic 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 75 37 29 6 73
Pfcrd 57 75
Severe Intellectual Disability-Epilepsy-Cataract Syndrome Due to Fatty Acyl-Coa Reductase 1 Deficiency 59
Severe Intellectual Disability-Epilepsy-Cataract Syndrome Due to Peroxisomal Disorder 59
Severe Intellectual Disability-Epilepsy-Cataract Syndrome Due to Far1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
peroxisomal fatty acyl-coa reductase 1 disorder:
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder, also known as pfcrd, is related to rhizomelic chondrodysplasia punctata, and has symptoms including muscle spasticity and seizures. 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 thin upper lip vermilion and microcephaly

UniProtKB/Swiss-Prot : 75 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 11.5

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 thin upper lip vermilion 32 HP:0000219
2 microcephaly 32 HP:0000252
3 coarse facial features 32 HP:0000280
4 long philtrum 32 HP:0000343
5 macrotia 32 HP:0000400
6 cataract 32 HP:0000518
7 intellectual disability 32 HP:0001249
8 seizures 32 HP:0001250
9 spasticity 32 HP:0001257
10 global developmental delay 32 HP:0001263
11 cerebellar atrophy 32 occasional (7.5%) HP:0001272
12 generalized hypotonia 32 HP:0001290
13 growth delay 32 HP:0001510
14 highly arched eyebrow 32 HP:0002553

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


muscle spasticity, seizures

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:

41
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:

75
# 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_032228.5(FAR1): c.787C> T (p.Arg263Ter) single nucleotide variant Pathogenic rs724159962 GRCh38 Chromosome 11, 13711946: 13711946
4 FAR1 NM_032228.5(FAR1): c.787C> T (p.Arg263Ter) single nucleotide variant Pathogenic rs724159962 GRCh37 Chromosome 11, 13733493: 13733493
5 FAR1 NM_032228.5(FAR1): c.1094A> G (p.Asp365Gly) single nucleotide variant Pathogenic rs724159963 GRCh38 Chromosome 11, 13714647: 13714647
6 FAR1 NM_032228.5(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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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