ORPHA:912
Zellweger syndrome
Synonyms: Cerebrohepatorenal syndrome · Severe PBD-ZSD · Severe peroxisome biogenesis disorder-Zellweger spectrum disorder · ZS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Zellweger syndrome | Cerebrohepatorenal syndrome · Severe PBD-ZSD · Severe peroxisome biogenesis disorder-Zellweger spectrum disorder · ZS |
| fr | Syndrome de Zellweger | ABP-MSZ, forme sévère · Anomalie de la biogenèse du péroxysome-maladie du spectre de Zellweger, forme sévère · Syndrome cérébro-hépato-rénal |
| de | Zellweger-Syndrom | Peroxisomenbiogenesedefekt-Zellweger-Spektrum-Störung, schwere Form · Schweres PBD-ZSD · ZS · Zerebro-hepato-renales Syndrom |
| es | Síndrome de Zellweger | PBD-ZSD grave · Síndrome cerebrohepatorrenal · Trastorno de la biogénesis del peroxisoma-trastorno del espectro Zellweger grave |
| it | Sindrome di Zellweger | Difetto grave della biogenesi dei perossisomi-spettro della sindrome di Zellweger · PBD-ZSD grave · Sindrome cerebro-epato-renale · ZS |
| nl | Syndroom van Zellweger | Cerebrohepatorenaal syndroom · Ernstige PBD-ZSD · Ernstige peroxisomale biogenesestoornis - Zellweger spectrum stoornis · ZS |
| pt | Síndrome Zellweger | Doença do espectro Zellweger-disfunção grave da biogénese dos peroxissomas · Síndrome cérebro-hepato-renal · ZS |
| pl | Zespół Zellwegera | Zespół mózgowo-wątrobowo-nerkowy · ZS |
| cs | Zellwegerův syndrom | Cerebrohepatorenální syndrom · ZS · CHRS |
| uk | Синдром Целлвегера | Цереброгепаторенальний синдром · Тяжкий PBD-ZSD · Тяжке порушення біогенезу пероксисом - розлад спектра Целльвегера · ZS |
| zh | Zellweger综合征 | 脑肝肾综合征 |
| tr | Zellweger sendromu | ZS · Serebrohepatorenal sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 214100 | E | validated | |
| OMIM | 214110 | BTNT | validated | |
| OMIM | 614859 | BTNT | validated | |
| OMIM | 614862 | BTNT | validated | |
| OMIM | 614866 | BTNT | validated | |
| OMIM | 614870 | BTNT | validated | |
| OMIM | 614872 | BTNT | validated | |
| OMIM | 614876 | BTNT | validated | |
| OMIM | 614882 | BTNT | validated | |
| OMIM | 614883 | BTNT | validated | |
| OMIM | 614886 | BTNT | validated | |
| OMIM | 614887 | BTNT | validated | |
| OMIM | 617370 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | inclusion | validated |
| ICD-11 | 5C57.0 | NTBT | index | validated |
| MONDO | 0019609 | E | validated | |
| MeSH | D015211 | E | validated | |
| UMLS | C0043459 | E | validated | |
| GARD | 7917 | E | validated | |
| MedDRA | 10053684 | 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 (8):
- ORPHA:98650Craniofacial anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal 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 - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1271Bowen syndrome moved to · inactive
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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 | 20301621[PMID] |
| PEX10 | Disease-causing germline mutation(s) in | Assessed | HGNC:8851 | ENSG00000157911 | 602859 | 1p36.32 | peroxisomal biogenesis factor 10 | 20301621[PMID] |
| PEX11B | Disease-causing germline mutation(s) in | Assessed | HGNC:8853 | ENSG00000131779 | 603867 | 1q21.1 | peroxisomal biogenesis factor 11 beta | 22581968[PMID] |
| PEX12 | Disease-causing germline mutation(s) in | Assessed | HGNC:8854 | ENSG00000108733 | 601758 | 17q12 | peroxisomal biogenesis factor 12 | 20301621[PMID] |
| PEX13 | Disease-causing germline mutation(s) in | Assessed | HGNC:8855 | ENSG00000162928 | 601789 | 2p15 | peroxisomal biogenesis factor 13 | 20301621[PMID] |
| PEX14 | Disease-causing germline mutation(s) in | Assessed | HGNC:8856 | ENSG00000142655 | 601791 | 1p36.22 | peroxisomal biogenesis factor 14 | 20301621[PMID] |
| PEX16 | Disease-causing germline mutation(s) in | Assessed | HGNC:8857 | ENSG00000121680 | 603360 | 11p11.2 | peroxisomal biogenesis factor 16 | 20301621[PMID] |
| PEX19 | Disease-causing germline mutation(s) in | Assessed | HGNC:9713 | ENSG00000162735 | 600279 | 1q23.2 | peroxisomal biogenesis factor 19 | 20301621[PMID] |
| PEX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9717 | ENSG00000164751 | 170993 | 8q21.13 | peroxisomal biogenesis factor 2 | 20301621[PMID] |
| PEX26 | Disease-causing germline mutation(s) in | Assessed | HGNC:22965 | ENSG00000215193 | 608666 | 22q11.21 | peroxisomal biogenesis factor 26 | 20301621[PMID] |
| PEX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:8858 | ENSG00000034693 | 603164 | 6q24.2 | peroxisomal biogenesis factor 3 | 20301621[PMID] |
| PEX5 | Disease-causing germline mutation(s) in | Assessed | HGNC:9719 | ENSG00000139197 | 600414 | 12p13.31 | peroxisomal biogenesis factor 5 | 20301621[PMID] |
| PEX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:8859 | ENSG00000124587 | 601498 | 6p21.1 | peroxisomal biogenesis factor 6 | 20301621[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 8.2 / 100 000 | Specific population | Value and class | Validated | 22894767[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 4.6 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 8.2 / 100 000 | Specific population | Value and class | Validated | 33239050[PMID] |
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
55 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0100543 | Cognitive impairment | |
| HP:0007957 | Corneal opacity | |
| HP:0001522 | Death in infancy | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002353 | EEG abnormality | |
| HP:0000286 | Epicanthus | |
| HP:0010655 | Epiphyseal stippling | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0012368 | Flat face | |
| HP:0001399 | Hepatic failure | |
| HP:0002240 | Hepatomegaly | |
| HP:0000348 | High forehead | |
| HP:0000952 | Jaundice | |
| HP:0012736 | Profound global developmental delay | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0008167 | Very long chain fatty acid accumulation | |
| HP:0000260 | Wide anterior fontanel | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0000532 | Chorioretinal abnormality | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0005469 | Flat occiput | |
| HP:0000218 | High palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0000047 | Hypospadias | |
| HP:0000256 | Macrocephaly | |
| HP:0002024 | Malabsorption | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0002126 | Polymicrogyria | |
| HP:0000627 | Posterior embryotoxon | |
| HP:0001622 | Premature birth | |
| HP:0002021 | Pyloric stenosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0000157 | Abnormality of the tongue | |
| HP:0001088 | Brushfield spots | |
| HP:0000501 | Glaucoma | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/912
- This record as JSON: /data/d/912.json