IRD
MCID: RFS003
MIFTS: 22

Refsum Disease, Infantile Form (IRD)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Refsum Disease, Infantile Form

MalaCards integrated aliases for Refsum Disease, Infantile Form:

Name: Refsum Disease, Infantile Form 52
Infantile Refsum Disease 52 71
Infantile Form of Phytanic Acid Storage Disease 52
Ird 52

Classifications:



External Ids:

UMLS 71 C0282527

Summaries for Refsum Disease, Infantile Form

NIH Rare Diseases : 52 Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) . PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. Peroxisome biogenesis disorders, in turn, are part of a larger group of disorders called leukodystrophies . IRD can cause low muscle tone (hypotonia ), retinitis pigmentosa (a visual impairment that can lead to blindness), developmental delay , sensorineural hearing loss , and liver dysfunction. IRD usually presents at birth or in infancy. Most individuals with IRD can achieve motor milestones, though they may be delayed, and most individuals can communicate with a few words or signs. Leukodystrophy with loss of acquired skills can occur at any age and may stabilize or progress. Peroxisome biogenesis disorders are caused by mutations in one of the PEX genes and are inherited in an autosomal recessive manner. Life expectancy, medical complications, and the degree of neurological impairment can vary. Survival into adulthood is possible. Adult Refsum disease and infantile refsum disease are separate disorders caused by different genetic defects.

MalaCards based summary : Refsum Disease, Infantile Form, also known as infantile refsum disease, is related to peroxisome biogenesis disorder 1b and zellweger spectrum disorder, and has symptoms including seizures The drugs Betaine and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and skin.

Related Diseases for Refsum Disease, Infantile Form

Diseases related to Refsum Disease, Infantile Form via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1b 12.5
2 zellweger spectrum disorder 11.9
3 refsum disease, classic 11.7
4 zellweger syndrome 11.6
5 neonatal adrenoleukodystrophy 11.6
6 respiratory distress syndrome in premature infants 11.5
7 peroxisome biogenesis disorder 1a 11.5
8 peroxisome biogenesis disorder 2b 11.4
9 peroxisome biogenesis disorder 3b 11.4
10 peroxisome biogenesis disorder 4b 11.4
11 peroxisome biogenesis disorder 5b 11.4
12 peroxisome biogenesis disorder 6b 11.4
13 peroxisome biogenesis disorder 7b 11.4
14 peroxisome biogenesis disorder 11b 11.4
15 peroxisome biogenesis disorder 2a 11.3
16 peroxisome biogenesis disorder 3a 11.3
17 peroxisome biogenesis disorder 4a 11.3
18 peroxisome biogenesis disorder 5a 11.3
19 peroxisome biogenesis disorder 6a 11.3
20 peroxisome biogenesis disorder 7a 11.3
21 peroxisome biogenesis disorder 8a 11.3
22 peroxisome biogenesis disorder 8b 11.3
23 peroxisome biogenesis disorder 9b 11.3
24 peroxisome biogenesis disorder 10a 11.3
25 peroxisome biogenesis disorder 11a 11.3
26 peroxisome biogenesis disorder 12a 11.3
27 peroxisome biogenesis disorder 13a 11.3
28 respiratory distress syndrome, infant 11.3
29 pneumothorax 10.5
30 bronchopulmonary dysplasia 10.5
31 adrenoleukodystrophy 10.4
32 peroxisomal disease 10.4
33 adrenomyeloneuropathy 10.4
34 retinitis pigmentosa 10.3
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
36 neuroretinitis 10.3
37 retinitis 10.3
38 interstitial emphysema 10.3
39 respiratory failure 10.3
40 cholera 10.3
41 branchiootic syndrome 1 10.2
42 autosomal recessive disease 10.2
43 diarrhea 10.2
44 colorectal cancer 10.1
45 hydrocephalus 10.1
46 neonatal respiratory failure 10.1
47 adult respiratory distress syndrome 10.1
48 newborn respiratory distress syndrome 10.1
49 bronchitis 10.1
50 ataxia and polyneuropathy, adult-onset 10.1

Graphical network of the top 20 diseases related to Refsum Disease, Infantile Form:



Diseases related to Refsum Disease, Infantile Form

Symptoms & Phenotypes for Refsum Disease, Infantile Form

UMLS symptoms related to Refsum Disease, Infantile Form:


seizures

Drugs & Therapeutics for Refsum Disease, Infantile Form

Drugs for Refsum Disease, Infantile Form (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
2 Hypolipidemic Agents Phase 3
3 Gastrointestinal Agents Phase 3
4 Lipid Regulating Agents Phase 3
5 Antimetabolites Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders. Completed NCT01838941 Phase 3 Betaine

Search NIH Clinical Center for Refsum Disease, Infantile Form

Genetic Tests for Refsum Disease, Infantile Form

Anatomical Context for Refsum Disease, Infantile Form

MalaCards organs/tissues related to Refsum Disease, Infantile Form:

40
Liver, Brain, Skin, Cortex, Smooth Muscle, Testes, Monocytes

Publications for Refsum Disease, Infantile Form

Articles related to Refsum Disease, Infantile Form:

(show top 50) (show all 119)
# Title Authors PMID Year
1
Use of electron microscopy when screening liver biopsies from neonates and infants: experience from a single tertiary children's hospital (1991-2017). 61
31900039 2020
2
Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up. 61
29453832 2018
3
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease). 61
29482424 2018
4
Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated γ-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease. 61
27886192 2017
5
Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease. 61
27221287 2016
6
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 61
27090541 2016
7
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. 61
26303611 2016
8
Audiological findings in Infantile Refsum disease. 61
26055198 2015
9
Conventional and advanced MR imaging in infantile Refsum disease. 61
26701952 2015
10
Pipecolic acid induces oxidative stress in vitro in cerebral cortex of young rats and the protective role of lipoic acid. 61
24338030 2014
11
Infantile Refsum disease in a young adult: case presentation and brief review. 61
25372210 2014
12
Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene. 61
23245813 2013
13
Child neurology: Zellweger syndrome. 61
23671347 2013
14
Peroxisomal disorders. 61
23622381 2013
15
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. 61
23798008 2013
16
Medical-dental findings and management of a child with infantile Refsum disease: a case report. 61
22591434 2012
17
Infantile refsum disease with enamel defects: a case report. 61
21703082 2011
18
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails. 61
20033294 2009
19
Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders. 61
18793625 2008
20
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. 61
17534573 2007
21
A temperature-sensitive CHO pex1 mutant with a novel mutation in the AAA Walker A1 motif. 61
16723118 2006
22
Hepatocyte transplantation for liver-based metabolic disorders. 61
16763914 2006
23
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex. 61
16257970 2006
24
Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. 61
16088892 2005
25
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. 61
16086329 2005
26
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. 61
16121806 2005
27
Infantile Refsum disease: serial evaluation with MRI. 61
15480616 2005
28
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. 61
15902563 2005
29
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. 61
15241794 2004
30
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 61
15098231 2004
31
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 61
14630978 2004
32
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 61
14571262 2004
33
Zellweger Spectrum Disorder 61
20301621 2003
34
Infantile refsum disease: case report. 61
14625237 2003
35
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 61
12851857 2003
36
Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up. 61
12973120 2003
37
AthPEX10, a nuclear gene essential for peroxisome and storage organelle formation during Arabidopsis embryogenesis. 61
12883010 2003
38
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 61
12794690 2003
39
Biochemical markers predicting survival in peroxisome biogenesis disorders. 61
12473763 2002
40
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 61
12402331 2002
41
Late onset white matter disease in peroxisome biogenesis disorder. 61
11769739 2001
42
[Peroxisomal hereditary metabolic disorders]. 61
11766453 2001
43
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. 61
11389485 2001
44
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. 61
11439091 2001
45
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders. 61
11405337 2001
46
Enhanced expression of a-series gangliosides in fibroblasts of patients with peroxisome biogenesis disorders. 61
11278168 2001
47
Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder. 61
10960480 2000
48
Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1. 61
11004248 2000
49
Therapeutic developments in peroxisome biogenesis disorders. 61
11060787 2000
50
Peroxisome biogenesis disorders: genetics and cell biology. 61
10904262 2000

Variations for Refsum Disease, Infantile Form

Expression for Refsum Disease, Infantile Form

Search GEO for disease gene expression data for Refsum Disease, Infantile Form.

Pathways for Refsum Disease, Infantile Form

GO Terms for Refsum Disease, Infantile Form

Sources for Refsum Disease, Infantile Form

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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