JBTS11
MCID: NPH067
MIFTS: 20

Nephronophthisis 12 (JBTS11)

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 12

MalaCards integrated aliases for Nephronophthisis 12:

Name: Nephronophthisis 12 58 12 76 30 13 6 15 74
Joubert Syndrome 11 76 30 74
Nphp12 58 12 76
Nephronophthisis, Type 12 ) 41
Jbts11 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
three patients classified as having joubert syndrome had heterozygous mutations in ttc21b, no detailed clinical information was provided
four families classified as having nephronophthisis had either homozygous or compound heterozygous ttc21b mutations, no detailed clinical information was provided


HPO:

33

Classifications:



External Ids:

Disease Ontology 12 DOID:0111119
OMIM 58 613820

Summaries for Nephronophthisis 12

UniProtKB/Swiss-Prot : 76 Joubert syndrome 11: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Nephronophthisis 12: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Some patients manifest extra-renal features including retinal, skeletal and central nervous system defects.

MalaCards based summary : Nephronophthisis 12, also known as joubert syndrome 11, is related to nephronophthisis. An important gene associated with Nephronophthisis 12 is TTC21B (Tetratricopeptide Repeat Domain 21B). Affiliated tissues include kidney, and related phenotypes are nephronophthisis and stage 5 chronic kidney disease

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24.

Description from OMIM: 613820

Related Diseases for Nephronophthisis 12

Symptoms & Phenotypes for Nephronophthisis 12

Human phenotypes related to Nephronophthisis 12:

33
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 33 HP:0000090
2 stage 5 chronic kidney disease 33 HP:0003774

Clinical features from OMIM:

613820

Drugs & Therapeutics for Nephronophthisis 12

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 12

Genetic Tests for Nephronophthisis 12

Genetic tests related to Nephronophthisis 12:

# Genetic test Affiliating Genes
1 Nephronophthisis 12 30 TTC21B
2 Joubert Syndrome 11 30

Anatomical Context for Nephronophthisis 12

MalaCards organs/tissues related to Nephronophthisis 12:

42
Kidney

Publications for Nephronophthisis 12

Articles related to Nephronophthisis 12:

# Title Authors Year
1
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. ( 21258341 )
2011

Variations for Nephronophthisis 12

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 12:

76
# Symbol AA change Variation ID SNP ID
1 TTC21B p.Trp150Arg VAR_065516
2 TTC21B p.Pro209Leu VAR_065518 rs140511594
3 TTC21B p.Thr231Ser VAR_065520 rs149925563
4 TTC21B p.Ser591Asn VAR_065530
5 TTC21B p.Arg867Cys VAR_065539 rs746700857
6 TTC21B p.Tyr1167Cys VAR_065549 rs104087701
7 TTC21B p.Met1186Val VAR_065550 rs376308209
8 TTC21B p.Met1011Thr VAR_068172 rs777427926

ClinVar genetic disease variations for Nephronophthisis 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TTC21B NM_024753.4(TTC21B): c.626C> T (p.Pro209Leu) single nucleotide variant Pathogenic rs140511594 GRCh37 Chromosome 2, 166797621: 166797621
2 TTC21B NM_024753.4(TTC21B): c.626C> T (p.Pro209Leu) single nucleotide variant Pathogenic rs140511594 GRCh38 Chromosome 2, 165941111: 165941111
3 TTC21B NM_024753.4(TTC21B): c.1656T> A (p.Cys552Ter) single nucleotide variant Pathogenic rs387907059 GRCh37 Chromosome 2, 166775804: 166775804
4 TTC21B NM_024753.4(TTC21B): c.1656T> A (p.Cys552Ter) single nucleotide variant Pathogenic rs387907059 GRCh38 Chromosome 2, 165919294: 165919294
5 TTC21B NM_024753.4(TTC21B): c.2758-2A> G single nucleotide variant Pathogenic rs766132877 GRCh38 Chromosome 2, 165899882: 165899882
6 TTC21B NM_024753.4(TTC21B): c.2758-2A> G single nucleotide variant Pathogenic rs766132877 GRCh37 Chromosome 2, 166756392: 166756392
7 TTC21B NM_024753.4(TTC21B): c.1697A> G (p.His566Arg) single nucleotide variant Uncertain significance rs146320075 GRCh37 Chromosome 2, 166773969: 166773969
8 TTC21B NM_024753.4(TTC21B): c.1697A> G (p.His566Arg) single nucleotide variant Uncertain significance rs146320075 GRCh38 Chromosome 2, 165917459: 165917459
9 TTC21B NM_024753.4(TTC21B): c.3713G> A (p.Gly1238Glu) single nucleotide variant Uncertain significance rs1294549037 GRCh37 Chromosome 2, 166737281: 166737281
10 TTC21B NM_024753.4(TTC21B): c.3713G> A (p.Gly1238Glu) single nucleotide variant Uncertain significance rs1294549037 GRCh38 Chromosome 2, 165880771: 165880771

Expression for Nephronophthisis 12

Search GEO for disease gene expression data for Nephronophthisis 12.

Pathways for Nephronophthisis 12

GO Terms for Nephronophthisis 12

Sources for Nephronophthisis 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....