Frasier syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Frasier syndrome | |
| fr | Syndrome de Frasier | |
| de | Frasier-Syndrom | |
| es | Síndrome de Frasier | |
| it | Sindrome di Frasier | |
| nl | Syndroom van Frasier | |
| pt | Síndrome Frasier | |
| pl | Zespół Frasiera | |
| cs | Frasierův syndrom | |
| uk | Синдром Фрейзера | |
| zh | Frasier综合征 | |
| tr | Frasier sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136680 | E | validated | |
| ICD-10 | N04.1 | NTBT | attributed | validated |
| ICD-11 | LD2A.Y | NTBT | index | validated |
| MONDO | 0007635 | E | validated | |
| MeSH | D052159 | E | validated | |
| UMLS | C0950122 | E | validated | |
| GARD | 2375 | E | validated | |
| MedDRA | 10080313 | 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 (4):
- ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12796 | ENSG00000184937 | 607102 | 11p13 | WT1 transcription factor | 25623218[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | [EXPERT]_25623218[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT]_25623218[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.
HPO phenotypes
16 annotations · validated 2017-07-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000033 | Ambiguous genitalia, male | |
| HP:0100820 | Glomerulopathy | |
| HP:0000037 | Male pseudohermaphroditism | |
| Very frequent (99-80%) | ||
| HP:0008214 | Decreased serum estradiol | |
| HP:0000097 | Focal segmental glomerulosclerosis | |
| HP:0008723 | Gonadal dysgenesis with female appearance, male | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0000786 | Primary amenorrhea | |
| HP:0000093 | Proteinuria | |
| Frequent (79-30%) | ||
| HP:0000150 | Gonadoblastoma | |
| HP:0000822 | Hypertension | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000083 | Renal insufficiency | |
| HP:0010464 | Streak ovary | |
| Very rare (<4-1%) | ||
| HP:0002667 | Nephroblastoma | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 15973330[PMID]_3130865[PMID]_9398852[PMID]_20595692[PMID]_22815844[PMID]_25613702[PMID]_10490448[PMID]_12050205[PMID]_1329488[PMID]_9090524[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/347
- This record as JSON: /data/d/347.json