MCID: SNR014
MIFTS: 19

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 58
Nephronophthisis-Hepatic Fibrosis Syndrome 58
Boichis Disease 58

Characteristics:

Orphanet epidemiological data:

58
senior-boichis syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Orphanet 58 ORPHA84081

Summaries for Senior-Boichis Syndrome

MalaCards based summary : Senior-Boichis Syndrome, also known as nephronophthisis-hepatic fibrosis syndrome, is related to nephronophthisis and cystic kidney disease. An important gene associated with Senior-Boichis Syndrome is DCDC2 (Doublecortin Domain Containing 2).

Related Diseases for Senior-Boichis Syndrome

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 29.4 TMEM67 KAAG1 DCDC2
2 cystic kidney disease 10.0
3 dyslexia 2 9.9 KAAG1 DCDC2
4 dyslexia 9.8 KAAG1 DCDC2
5 sclerosing cholangitis, neonatal 9.8 KAAG1 DCDC2
6 sclerosing cholangitis 9.8 KAAG1 DCDC2
7 cholangitis 9.8 KAAG1 DCDC2
8 deafness, autosomal recessive 66 9.7 KAAG1 DCDC2
9 reading disorder 9.7 KAAG1 DCDC2
10 nephronophthisis 19 9.4 TMEM67 KAAG1 DCDC2
11 primary ciliary dyskinesia 9.4 TMEM67 DCDC2

Graphical network of the top 20 diseases related to Senior-Boichis Syndrome:



Diseases related to Senior-Boichis Syndrome

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

Publications for Senior-Boichis Syndrome

Articles related to Senior-Boichis Syndrome:

# Title Authors PMID Year
1
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. 6
27469900 2016
2
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. 6
25557784 2015
3
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6
19508969 2009
4
Retinal involvement in a case of nephronophthisis associated with liver fibrosis Senior-Boichis syndrome. 61
953201 1976

Variations for Senior-Boichis Syndrome

ClinVar genetic disease variations for Senior-Boichis Syndrome:

6 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM67 NM_153704.6(TMEM67):c.869G>T (p.Trp290Leu) SNV Pathogenic 1384 rs267607117 GRCh37: 8:94792975-94792975
GRCh38: 8:93780747-93780747
2 TMEM67 NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg) SNV Pathogenic 1385 rs267607116 GRCh37: 8:94821089-94821089
GRCh38: 8:93808861-93808861
3 DCDC2 NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter) SNV Pathogenic 180687 rs730880299 GRCh37: 6:24291215-24291215
GRCh38: 6:24290987-24290987
4 DCDC2 NM_016356.5(DCDC2):c.349-2A>G SNV Pathogenic 180689 rs760040426 GRCh37: 6:24302274-24302274
GRCh38: 6:24302046-24302046
5 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) SNV Pathogenic 217725 rs752362727 GRCh37: 8:94798483-94798483
GRCh38: 8:93786255-93786255
6 TMEM67 NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) SNV Pathogenic 217726 rs863225235 GRCh37: 8:94794672-94794672
GRCh38: 8:93782444-93782444
7 TMEM67 NM_153704.6(TMEM67):c.1057_1065+2del Deletion Pathogenic 974545 GRCh37: 8:94793960-94793970
GRCh38: 8:93781732-93781742
8 TMEM67 NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser) SNV Pathogenic 1382 rs267607116 GRCh37: 8:94821089-94821089
GRCh38: 8:93808861-93808861
9 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) SNV Pathogenic 1383 rs201893408 GRCh37: 8:94808198-94808198
GRCh38: 8:93795970-93795970
10 DCDC2 , KAAG1 NM_016356.5(DCDC2):c.121_122GT[1] (p.Ser42fs) Microsatellite Pathogenic 180688 rs757704417 GRCh37: 6:24357855-24357856
GRCh38: 6:24357627-24357628
11 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) SNV Pathogenic 1383 rs201893408 GRCh37: 8:94808198-94808198
GRCh38: 8:93795970-93795970
12 DCDC2 , KAAG1 NM_016356.5(DCDC2):c.223_293del (p.Arg75fs) Deletion Likely pathogenic 917935 GRCh37: 6:24357686-24357756
GRCh38: 6:24357458-24357528
13 TMEM67 NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) SNV Likely pathogenic 219997 rs138783896 GRCh37: 8:94777644-94777644
GRCh38: 8:93765416-93765416
14 TMEM67 NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr) SNV Likely pathogenic 974546 GRCh37: 8:94777678-94777678
GRCh38: 8:93765450-93765450
15 TMEM67 NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) SNV Likely pathogenic 56762 rs386834180 GRCh37: 8:94793953-94793953
GRCh38: 8:93781725-93781725
16 DCDC2 NM_016356.5(DCDC2):c.549dup (p.Val184fs) Duplication Likely pathogenic 804454 rs1581640646 GRCh37: 6:24301950-24301951
GRCh38: 6:24301722-24301723
17 TMEM67 NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg) SNV Uncertain significance 908168 GRCh37: 8:94808136-94808136
GRCh38: 8:93795908-93795908
18 TMEM67 NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu) SNV Uncertain significance 363919 rs199708882 GRCh37: 8:94767279-94767279
GRCh38: 8:93755051-93755051
19 TMEM67 NM_153704.6(TMEM67):c.120T>C (p.Ser40=) SNV Uncertain significance 262741 rs767999682 GRCh37: 8:94767262-94767262
GRCh38: 8:93755034-93755034
20 TMEM67 NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) SNV Uncertain significance 363928 rs369812327 GRCh37: 8:94828620-94828620
GRCh38: 8:93816392-93816392
21 TMEM67 NM_001142301.1(TMEM67):c.2313+4T>G SNV Uncertain significance 363924 rs772449181 GRCh37: 8:94821188-94821188
GRCh38: 8:93808960-93808960
22 TMEM67 NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) SNV Uncertain significance 262745 rs886038738 GRCh37: 8:94821076-94821076
GRCh38: 8:93808848-93808848
23 TMEM67 NM_001142301.1(TMEM67):c.*942G>A SNV Uncertain significance 363936 rs886063177 GRCh37: 8:94829622-94829622
GRCh38: 8:93817394-93817394
24 TMEM67 NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln) SNV Uncertain significance 910124 GRCh37: 8:94809574-94809574
GRCh38: 8:93797346-93797346
25 TMEM67 NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser) SNV Uncertain significance 909996 GRCh37: 8:94768051-94768051
GRCh38: 8:93755823-93755823
26 TMEM67 NM_153704.6(TMEM67):c.282T>C (p.Ala94=) SNV Uncertain significance 910884 GRCh37: 8:94768064-94768064
GRCh38: 8:93755836-93755836
27 TMEM67 NM_153704.6(TMEM67):c.369C>T (p.Ala123=) SNV Uncertain significance 286625 rs115640152 GRCh37: 8:94770767-94770767
GRCh38: 8:93758539-93758539
28 TMEM67 NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro) SNV Uncertain significance 363917 rs886063170 GRCh37: 8:94767219-94767219
GRCh38: 8:93754991-93754991
29 TMEM67 NM_001142301.1(TMEM67):c.*941T>C SNV Uncertain significance 363935 rs112317911 GRCh37: 8:94829621-94829621
GRCh38: 8:93817393-93817393
30 DCDC2 NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) SNV Uncertain significance 523063 rs909339162 GRCh37: 6:24278430-24278430
GRCh38: 6:24278202-24278202
31 TMEM67 NM_153704.6(TMEM67):c.2764+10A>T SNV Uncertain significance 911073 GRCh37: 8:94822125-94822125
GRCh38: 8:93809897-93809897
32 TMEM67 NM_001142301.1(TMEM67):c.*1434T>C SNV Uncertain significance 363937 rs886063178 GRCh37: 8:94830114-94830114
GRCh38: 8:93817886-93817886
33 TMEM67 NM_001142301.1(TMEM67):c.*300G>A SNV Uncertain significance 363932 rs886063176 GRCh37: 8:94828980-94828980
GRCh38: 8:93816752-93816752
34 TMEM67 NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) SNV Uncertain significance 363920 rs774288177 GRCh37: 8:94800105-94800105
GRCh38: 8:93787877-93787877
35 TMEM67 NM_153704.6(TMEM67):c.2924G>A (p.Arg975His) SNV Uncertain significance 363927 rs191759530 GRCh37: 8:94828616-94828616
GRCh38: 8:93816388-93816388
36 TMEM67 NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) SNV Uncertain significance 363916 rs146838062 GRCh37: 8:94767171-94767171
GRCh38: 8:93754943-93754943
37 TMEM67 NM_001142301.1(TMEM67):c.*1653G>A SNV Uncertain significance 363938 rs544858713 GRCh37: 8:94830333-94830333
GRCh38: 8:93818105-93818105
38 TMEM67 NM_153704.6(TMEM67):c.2570C>G (p.Ala857Gly) SNV Uncertain significance 363926 rs201393025 GRCh37: 8:94821298-94821298
GRCh38: 8:93809070-93809070
39 TMEM67 NM_001142301.1(TMEM67):c.*853G>A SNV Uncertain significance 363934 rs191740525 GRCh37: 8:94829533-94829533
GRCh38: 8:93817305-93817305
40 TMEM67 NM_001142301.1(TMEM67):c.626+9A>G SNV Uncertain significance 262756 rs372597584 GRCh37: 8:94792984-94792984
GRCh38: 8:93780756-93780756
41 TMEM67 NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile) SNV Uncertain significance 363929 rs886063173 GRCh37: 8:94828667-94828667
GRCh38: 8:93816439-93816439
42 TMEM67 NM_001142301.1(TMEM67):c.2313+5G>C SNV Uncertain significance 363925 rs886063172 GRCh37: 8:94821189-94821189
GRCh38: 8:93808961-93808961
43 TMEM67 NM_001142301.1(TMEM67):c.*179T>C SNV Uncertain significance 363930 rs886063174 GRCh37: 8:94828859-94828859
GRCh38: 8:93816631-93816631
44 TMEM67 NM_001142301.1(TMEM67):c.*218T>C SNV Uncertain significance 363931 rs886063175 GRCh37: 8:94828898-94828898
GRCh38: 8:93816670-93816670
45 TMEM67 NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) SNV Uncertain significance 363921 rs114655330 GRCh37: 8:94800170-94800170
GRCh38: 8:93787942-93787942
46 TMEM67 NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser) SNV Uncertain significance 363922 rs148726767 GRCh37: 8:94807662-94807662
GRCh38: 8:93795434-93795434
47 TMEM67 NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) SNV Uncertain significance 363923 rs201949664 GRCh37: 8:94815889-94815889
GRCh38: 8:93803661-93803661
48 TMEM67 NM_153704.6(TMEM67):c.186T>C (p.Cys62=) SNV Uncertain significance 215970 rs115660279 GRCh37: 8:94767328-94767328
GRCh38: 8:93755100-93755100
49 TMEM67 NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) SNV Uncertain significance 497917 rs370004832 GRCh37: 8:94809607-94809607
GRCh38: 8:93797379-93797379
50 TMEM67 NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) SNV Uncertain significance 1377 rs111619594 GRCh37: 8:94793190-94793190
GRCh38: 8:93780962-93780962

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 cilium GO:0005929 8.62 TMEM67 DCDC2

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 TMEM67 DCDC2
2 cell projection organization GO:0030030 8.62 TMEM67 DCDC2

Sources for Senior-Boichis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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