Pierson syndrome
Synonyms: Microcoria-congenital nephrosis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Neonatal
- Status
- active
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pierson syndrome | Microcoria-congenital nephrosis syndrome |
| fr | Syndrome de Pierson | Syndrome de microcorie-néphrose congénitale |
| de | Pierson-Syndrom | Mikrokorie - kongenitale Nephrose |
| es | Síndrome de Pierson | Síndrome de Glastre-Cochat-Bouvier · Síndrome nefrótico-anomalías oculares |
| it | Sindrome di Pierson | Microcoria - nefrosi congenita |
| nl | Syndroom van Pierson | Microcorie - congenitale nefrose-syndroom |
| pt | Síndrome Pierson | Síndrome de microcoria-nefrose congénita |
| pl | Zespół Piersona | Mikrokoria - wrodzony zespół nerczycowy |
| cs | Piersonův syndrom | Syndrom zahrnující mikrokorii a vrozenou nefrózu |
| uk | Синдром Пірсона | Синдром мікрокоріатичного вродженого нефрозу |
| zh | Pierson综合征 | 小瞳孔-先天性肾病综合征 |
| tr | Pierson sendromu | Mikrokori-Doğumsal nefroz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609049 | BTNT | validated | |
| OMIM | 614199 | BTNT | validated | |
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| ICD-11 | GB41 | NTBT | index | validated |
| MONDO | 0012184 | E | validated | |
| MeSH | C537185 | E | validated | |
| UMLS | C1836876 | E | validated | |
| GARD | 9420 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:306507LAMB2-related infantile-onset nephrotic syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LAMB2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6487 | ENSG00000172037 | 150325 | 3p21.31 | laminin subunit beta 2 | 24944146[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 98 cases | Worldwide | Case(s) | Validated | 29051055[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29051055[PMID]_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.
HPO phenotypes
17 annotations · validated 2025-03-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008677 | Congenital nephrotic syndrome | |
| HP:0001967 | Diffuse mesangial sclerosis | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001104 | Macular hypoplasia | |
| HP:0025492 | Microcoria | |
| HP:0001270 | Motor delay | |
| HP:0000639 | Nystagmus | |
| HP:0001562 | Oligohydramnios | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0007676 | Hypoplasia of the iris | |
| HP:0001265 | Hyporeflexia | |
| HP:0007968 | Remnants of the hyaloid vascular system | |
| HP:0034375 | Spherophakia | |
| HP:0000505 | Visual impairment | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17256789[PMID]_15372515[PMID]_37537573[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2670
- This record as JSON: /data/d/2670.json