Senior-Boichis syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: NPHP11
Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit
Boichis disease
Number of Symptoms 20
OrphanetNr: 84081
OMIM Id: 613550
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
27625867 [IBIS]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial cystic renal disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0000092) Tubular atrophy 28 / 7739
2
(HPO:0000090) Nephronophthisis 42 / 7739
3
(HPO:0000103) Polyuria 60 / 7739
4
(HPO:0000108) Renal corticomedullary cysts 21 / 7739
5
(HPO:0003774) Stage 5 chronic kidney disease 27625867 IBIS 78 / 7739
6
(HPO:0005583) Tubular basement membrane disintegration 18 / 7739
7
(HPO:0000546) Retinal degeneration rare [HPO:skoehler] 61 / 7739
8
(HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
9
(HPO:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
10
(HPO:0009916) Anisocoria rare [HPO:skoehler] 11 / 7739
11
(HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
12
(HPO:0001249) Intellectual disability 1089 / 7739
13
(HPO:0001959) Polydipsia 43 / 7739
14
(HPO:0001270) Motor delay 322 / 7739
15
(HPO:0001395) Hepatic fibrosis 67 / 7739
16
(HPO:0001510) Growth delay 295 / 7739
17
(HPO:0001903) Anemia 289 / 7739
18
(OMIM) Mild cortical atrophy (in 1 patient) 1 / 7739
19
(OMIM) Interstitial fibrosis 24 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

TMEM67;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Boichis et al. (1973) described an association of nephronophthisis and congenital hepatic fibrosis in sibs. Five had demonstrated renal disease. Two died of renal failure at ages 7 and 15, and a third was maintained on hemodialysis. Approximately ...
Molecular genetics OMIM In patients with nephronophthisis and hepatic fibrosis, Otto et al. (2009) identified homozygous or compound heterozygous missense mutations in the TMEM67 gene (see, e.g., 609884.0018-609884.0021). Mutations in the TMEM67 gene were not found in 105 NPHP patients without ...