Senior-Boichis syndrome
Synonyms: Boichis disease · Nephronophthisis-hepatic fibrosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Senior-Boichis syndrome | Boichis disease · Nephronophthisis-hepatic fibrosis syndrome |
| fr | Syndrome de Senior-Boichis | Maladie de Boichis · Syndrome de néphronophtise-fibrose hépatique |
| de | Senior-Boichis-Syndrom | Boichis-Krankheit · Nephronophthise-hepatische Fibrose-Syndrom |
| es | Síndrome de Senior-Boichis | Enfermedad de Boichis · Síndrome de nefronoptisis-fibrosis hepática |
| it | Sindrome di Senior-Boichis | Sindrome di Boichis · Sindrome nefronoftisi-fibrosi epatica |
| nl | Syndroom van Senior-Boichis | Nefronoftise - hepatische fibrose-syndroom · Ziekte van Boichis |
| pt | Síndrome Senior-Boichis | Síndrome de nefronoptise-fibrose hepática |
| pl | Zespół Seniora i Boichisa | Choroba Boichisa · Zespół nefronoftyzy i włóknienia wątroby |
| cs | Seniorův-Boichisův syndrom | Boichisova nemoc · Syndrom zahrnující nefronoftízu a jaterní fibrózu · Senior-Boichisův syndrom |
| uk | Синдром Сеньйора-Буахіса | Хвороба Бойча · Синдром нефронофіброзу-фіброзу печінки |
| zh | Senior-Boichis综合征 | 肾消耗病-肝纤维化综合征 |
| tr | Senior-Boichis sendromu | Boichis hastalığı · Nefronofthisis-hepatik fibrozis sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613550 | BTNT | validated | |
| OMIM | 616217 | BTNT | validated | |
| ICD-10 | Q61.8 | NTBT | attributed | validated |
| ICD-11 | GB8Y | NTBT | index | validated |
| MONDO | 0019394 | E | validated | |
| UMLS | C4274018 | 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 (3):
- ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:156162Renal ciliopathy
rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCDC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18141 | ENSG00000146038 | 605755 | 6p22.3 | doublecortin domain containing 2 | 25557784[PMID] |
| TMEM67 | Disease-causing germline mutation(s) in | Assessed | HGNC:28396 | ENSG00000164953 | 609884 | 8q22.1 | transmembrane protein 67 | 19508969[PMID] |
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.
HPO phenotypes
34 annotations · validated 2021-10-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0032581 | Abnormal renal insterstitial morphology | |
| HP:0012591 | Abnormal urinary electrolyte concentration | |
| HP:0001396 | Cholestasis | |
| HP:0012622 | Chronic kidney disease | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0004719 | Hyperechogenic kidneys | |
| HP:0000822 | Hypertension | |
| HP:0003573 | Increased total bilirubin | |
| HP:0006563 | Malformation of the hepatic ductal plate | |
| HP:0001959 | Polydipsia | |
| HP:0001409 | Portal hypertension | |
| HP:0006571 | Reduced number of intrahepatic bile ducts | |
| HP:0005565 | Reduced renal corticomedullary differentiation | |
| HP:0000108 | Renal corticomedullary cysts | |
| HP:0000089 | Renal hypoplasia | |
| HP:0020132 | Thickening of the tubular basement membrane | |
| HP:0032622 | Tubular luminal dilatation | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000718 | Aggressive behavior | |
| HP:0000713 | Agitation | |
| HP:0001903 | Anemia | |
| HP:0001541 | Ascites | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0012163 | Carotid artery dilatation | |
| HP:0001394 | Cirrhosis | |
| HP:0002612 | Congenital hepatic fibrosis | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0002040 | Esophageal varix | |
| HP:0012585 | Renal atrophy | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0031589 | Suicidal ideation | |
Annotation source: 29479522[PMID]_34461951[PMID]_31821705[PMID]_34212438[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/84081
- This record as JSON: /data/d/84081.json