MCID: SNR014
MIFTS: 13

Senior-Boichis Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Senior-Boichis Syndrome

MalaCards integrated aliases for Senior-Boichis Syndrome:

Name: Senior-Boichis Syndrome 59
Nephronophthisis-Hepatic Fibrosis Syndrome 59
Boichis Disease 59

Characteristics:

Orphanet epidemiological data:

59
senior-boichis syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA84081

Summaries for Senior-Boichis Syndrome

MalaCards based summary : Senior-Boichis Syndrome, also known as nephronophthisis-hepatic fibrosis syndrome, is related to nephronophthisis and retinitis. An important gene associated with Senior-Boichis Syndrome is TMEM67 (Transmembrane Protein 67). Affiliated tissues include liver.

Related Diseases for Senior-Boichis Syndrome

Diseases related to Senior-Boichis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nephronophthisis 28.7 DCDC2 TMEM67
2 retinitis 10.2

Symptoms & Phenotypes for Senior-Boichis Syndrome

Drugs & Therapeutics for Senior-Boichis Syndrome

Search Clinical Trials , NIH Clinical Center for Senior-Boichis Syndrome

Genetic Tests for Senior-Boichis Syndrome

Anatomical Context for Senior-Boichis Syndrome

MalaCards organs/tissues related to Senior-Boichis Syndrome:

41
Liver

Publications for Senior-Boichis Syndrome

Articles related to Senior-Boichis Syndrome:

# Title Authors Year
1
Retinal involvement in a case of nephronophthisis associated with liver fibrosis Senior-Boichis syndrome. ( 953201 )
1976

Variations for Senior-Boichis Syndrome

Expression for Senior-Boichis Syndrome

Search GEO for disease gene expression data for Senior-Boichis Syndrome.

Pathways for Senior-Boichis Syndrome

GO Terms for Senior-Boichis Syndrome

Cellular components related to Senior-Boichis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.16 DCDC2 TMEM67
2 cell projection GO:0042995 8.96 DCDC2 TMEM67
3 cilium GO:0005929 8.62 DCDC2 TMEM67

Biological processes related to Senior-Boichis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 8.96 DCDC2 TMEM67
2 cell projection organization GO:0030030 8.62 DCDC2 TMEM67

Sources for Senior-Boichis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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