MCID: RFS003
MIFTS: 24

Refsum Disease, Infantile Form

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 54
Infantile Refsum Disease 54 74
Infantile Form of Phytanic Acid Storage Disease 54
Ird 54

Classifications:



External Ids:

UMLS 74 C0282527

Summaries for Refsum Disease, Infantile Form

NIH Rare Diseases : 54 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 Cholic Acids have been mentioned in the context of this disorder. Affiliated tissues include brain, smooth muscle and monocytes.

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 all 33)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1b 12.4
2 zellweger spectrum disorder 11.6
3 refsum disease, classic 11.6
4 zellweger syndrome 11.5
5 neonatal adrenoleukodystrophy 11.5
6 peroxisome biogenesis disorder 1a 11.4
7 peroxisome biogenesis disorder 2b 11.3
8 peroxisome biogenesis disorder 3b 11.3
9 peroxisome biogenesis disorder 4b 11.3
10 peroxisome biogenesis disorder 5b 11.3
11 peroxisome biogenesis disorder 6b 11.3
12 peroxisome biogenesis disorder 7b 11.3
13 peroxisome biogenesis disorder 11b 11.3
14 peroxisome biogenesis disorder 2a 11.1
15 peroxisome biogenesis disorder 3a 11.1
16 peroxisome biogenesis disorder 4a 11.1
17 peroxisome biogenesis disorder 5a 11.1
18 peroxisome biogenesis disorder 6a 11.1
19 peroxisome biogenesis disorder 7a 11.1
20 peroxisome biogenesis disorder 8a 11.1
21 peroxisome biogenesis disorder 8b 11.1
22 peroxisome biogenesis disorder 9b 11.1
23 peroxisome biogenesis disorder 10a 11.1
24 peroxisome biogenesis disorder 11a 11.1
25 peroxisome biogenesis disorder 12a 11.1
26 peroxisome biogenesis disorder 13a 11.1
27 peroxisome biogenesis disorder-zellweger syndrome spectrum 11.1
28 respiratory distress syndrome, infant 11.1
29 respiratory distress syndrome in premature infants 11.1
30 adrenoleukodystrophy 10.2
31 adrenomyeloneuropathy 10.2
32 bronchopulmonary dysplasia 10.2
33 streptococcal group a invasive disease 10.2

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):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
2 Cholic Acids Phase 3,Not Applicable
3 Gastrointestinal Agents Phase 3,Not Applicable
4 Bile Acids and Salts Phase 3,Not Applicable
5 Liver Extracts Phase 3
6 Antimetabolites Phase 3,Phase 2
7 Lipid Regulating Agents Phase 3
8 Hypolipidemic Agents Phase 3
9
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
10
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
11
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
12
alemtuzumab Approved, Investigational Phase 2 216503-57-0
13
rituximab Approved Phase 2 174722-31-7 10201696
14
Busulfan Approved, Investigational Phase 2 55-98-1 2478
15
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
16
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
18 Tocotrienol Investigational Phase 2 6829-55-6
19 Immunosuppressive Agents Phase 2
20 Antineoplastic Agents, Alkylating Phase 2
21 Immunologic Factors Phase 2
22 Tocopherols Phase 2
23 Antimetabolites, Antineoplastic Phase 2
24 Thioctic Acid Phase 2
25 Vitamins Phase 2
26 Tocotrienols Phase 2
27 Alkylating Agents Phase 2
28 Antilymphocyte Serum Phase 2
29 N-monoacetylcystine Phase 2
30 Alpha-lipoic Acid Phase 2
31
Ursodeoxycholic acid Approved, Investigational Not Applicable 128-13-2 31401
32
chenodeoxycholic acid Approved Not Applicable 474-25-9 10133
33 Cathartics Not Applicable
34 Laxatives Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
2 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
3 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
4 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable chenodeoxycholic acid;cholic acid;ursodiol

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:

42
Brain, Smooth Muscle, Monocytes

Publications for Refsum Disease, Infantile Form

Articles related to Refsum Disease, Infantile Form:

(show all 25)
# Title Authors Year
1
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease). ( 29482424 )
2018
2
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. ( 27886192 )
2017
3
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. ( 26303611 )
2016
4
Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease. ( 27221287 )
2016
5
Audiological findings in Infantile Refsum disease. ( 26055198 )
2015
6
Conventional and advanced MR imaging in infantile Refsum disease. ( 26701952 )
2015
7
Infantile Refsum disease in a young adult: case presentation and brief review. ( 25372210 )
2014
8
Medical-dental findings and management of a child with infantile Refsum disease: a case report. ( 22591434 )
2012
9
Infantile refsum disease with enamel defects: a case report. ( 21703082 )
2011
10
Infantile Refsum disease: serial evaluation with MRI. ( 15480616 )
2005
11
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. ( 15902563 )
2005
12
Infantile refsum disease: case report. ( 14625237 )
2003
13
Infantile refsum disease in four Amish sibs. ( 10607947 )
2000
14
Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. ( 9671729 )
1998
15
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. ( 7533834 )
1995
16
Resistance to erucic acid as a selectable marker for peroxisomal activity: isolation of revertants of an infantile Refsum disease cell line. ( 7519689 )
1994
17
Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum disease. ( 1279267 )
1992
18
Autopsy findings in two siblings with infantile Refsum disease. ( 1373019 )
1992
19
Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder. ( 1374125 )
1992
20
MR findings in infantile Refsum disease: case report of two family members. ( 1722384 )
1991
21
Infantile Refsum disease. ( 1722385 )
1991
22
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. ( 2445576 )
1987
23
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. ( 2426710 )
1986
24
Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins. ( 2429839 )
1986
25
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases. ( 2430454 )
1986

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
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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