ORPHA:772
Infantile Refsum disease
Synonyms: IRD · Mild PBD-ZSD · Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile Refsum disease | IRD · Mild PBD-ZSD · Mild peroxisome biogenesis disorder-Zellweger spectrum disorder |
| fr | Maladie de Refsum infantile | ABP-MSZ, forme modérée · Anomalie de la biogenèse du péroxysome-maladie du spectre de Zellweger, forme modérée · IRD |
| de | Refsum-Krankheit, infantile Form | IRD · Mildes PBD-ZSD · Peroxisomenbiogenesedefekt-Zellweger-Spektrum-Störung, milde Form · Refsum-Syndrom, infantiles |
| es | Enfermedad de Refsum infantil | IRD · PBD-ZSD leve · Trastorno de la biogénesis del peroxisoma-trastorno del espectro Zellweger leve |
| it | Malattia di Refsum infantile | Difetto lieve della biogenesi dei perossisomi-spettro della sindrome di Zellweger · IRD · PBD-ZSD lieve |
| nl | Ziekte van Refsum, infantiele vorm | IRD · Milde PBD-ZSD · Milde peroxisomale biogenesestoornis - Zellweger spectrum stoornis |
| pt | Doença Refsum da infância | Doença do espectro Zellweger-disfunção moderada da biogénese dos peroxissomas · PBD-ZSD moderada |
| pl | Niemowlęca postać choroby Refsuma | IRD |
| cs | Infantilní Refsumova nemoc | IRD |
| uk | Інфантильна хвороба Рефсума | IRD · Мякий PBD-ZSD · Легке порушення біогенезу пероксисом - розлад спектра Целльвегера |
| zh | 婴儿雷夫叙姆病 | IRD |
| tr | İnfantil Refsum hastalığı | IRD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202370 | BTNT | validated | |
| OMIM | 266510 | BTNT | validated | |
| OMIM | 601539 | NTBT | validated | |
| OMIM | 614863 | NTBT | validated | |
| OMIM | 614867 | BTNT | validated | |
| OMIM | 614871 | BTNT | validated | |
| OMIM | 614873 | BTNT | validated | |
| OMIM | 614877 | BTNT | validated | |
| OMIM | 614885 | BTNT | validated | |
| OMIM | 614920 | BTNT | validated | |
| OMIM | 617370 | NTBT | validated | |
| ICD-10 | G60.1 | NTBT | attributed | validated |
| ICD-11 | 5C57.1 | NTBT | index | validated |
| MONDO | 0019174 | E | validated | |
| MeSH | D052919 | E | validated | |
| UMLS | C0282527 | E | validated | |
| GARD | 4648 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:98096Autosomal recessive metabolic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:225686Peroxisomal disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:79189Peroxisome biogenesis disorder
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hepatic diseases; rare ophthalmic disorders
No children.
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Genes
13 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PEX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8850 | ENSG00000127980 | 602136 | 7q21.2 | peroxisomal biogenesis factor 1 | |
| PEX10 | Disease-causing germline mutation(s) in | Assessed | HGNC:8851 | ENSG00000157911 | 602859 | 1p36.32 | peroxisomal biogenesis factor 10 | |
| PEX11B | Disease-causing germline mutation(s) in | Assessed | HGNC:8853 | ENSG00000131779 | 603867 | 1q21.1 | peroxisomal biogenesis factor 11 beta | |
| PEX12 | Disease-causing germline mutation(s) in | Assessed | HGNC:8854 | ENSG00000108733 | 601758 | 17q12 | peroxisomal biogenesis factor 12 | |
| PEX13 | Disease-causing germline mutation(s) in | Assessed | HGNC:8855 | ENSG00000162928 | 601789 | 2p15 | peroxisomal biogenesis factor 13 | |
| PEX14 | Disease-causing germline mutation(s) in | Assessed | HGNC:8856 | ENSG00000142655 | 601791 | 1p36.22 | peroxisomal biogenesis factor 14 | |
| PEX16 | Disease-causing germline mutation(s) in | Assessed | HGNC:8857 | ENSG00000121680 | 603360 | 11p11.2 | peroxisomal biogenesis factor 16 | |
| PEX19 | Disease-causing germline mutation(s) in | Assessed | HGNC:9713 | ENSG00000162735 | 600279 | 1q23.2 | peroxisomal biogenesis factor 19 | |
| PEX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9717 | ENSG00000164751 | 170993 | 8q21.13 | peroxisomal biogenesis factor 2 | |
| PEX26 | Disease-causing germline mutation(s) in | Assessed | HGNC:22965 | ENSG00000215193 | 608666 | 22q11.21 | peroxisomal biogenesis factor 26 | |
| PEX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:8858 | ENSG00000034693 | 603164 | 6q24.2 | peroxisomal biogenesis factor 3 | |
| PEX5 | Disease-causing germline mutation(s) in | Assessed | HGNC:9719 | ENSG00000139197 | 600414 | 12p13.31 | peroxisomal biogenesis factor 5 | |
| PEX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:8859 | ENSG00000124587 | 601498 | 6p21.1 | peroxisomal biogenesis factor 6 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001133 | Constriction of peripheral visual field | |
| HP:0010571 | Elevated levels of phytanic acid | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0000662 | Nyctalopia | |
| HP:0003323 | Progressive muscle weakness | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0004322 | Short stature | |
| HP:0008167 | Very long chain fatty acid accumulation | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0000639 | Nystagmus | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000271 | Abnormality of the face | |
| HP:0011675 | Arrhythmia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000518 | Cataract | |
| HP:0010628 | Facial palsy | |
| HP:0008064 | Ichthyosis | |
| HP:0000648 | Optic atrophy | |
| HP:0001250 | Seizure | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/772
- This record as JSON: /data/d/772.json