IRD
MCID: RFS003
MIFTS: 24

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 53
Infantile Refsum Disease 53 73
Infantile Form of Phytanic Acid Storage Disease 53
Ird 53

Classifications:



External Ids:

UMLS 73 C0282527

Summaries for Refsum Disease, Infantile Form

NIH Rare Diseases : 53 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 Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and smooth muscle.

Related Diseases for Refsum Disease, Infantile Form

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

41
Liver, 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 I^-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease. ( 27886192 )
2017
3
Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease. ( 27221287 )
2016
4
Conventional and advanced MR imaging in infantile Refsum disease. ( 26701952 )
2015
5
Audiological findings in Infantile Refsum disease. ( 26055198 )
2015
6
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. ( 26303611 )
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
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. ( 15902563 )
2005
11
Infantile Refsum disease: serial evaluation with MRI. ( 15480616 )
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
Autopsy findings in two siblings with infantile Refsum disease. ( 1373019 )
1992
18
Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum disease. ( 1279267 )
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
Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins. ( 2429839 )
1986
24
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. ( 2426710 )
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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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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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