MCID: NPH067
MIFTS: 20

Nephronophthisis 12

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 12

MalaCards integrated aliases for Nephronophthisis 12:

Name: Nephronophthisis 12 57 12 75 29 13 6 73
Joubert Syndrome 11 75 29 73
Nphp12 57 12 75
Nephronophthisis, Type 12 ) 40
Jbts11 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

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:

32

Classifications:



External Ids:

OMIM 57 613820
Disease Ontology 12 DOID:0111119

Summaries for Nephronophthisis 12

UniProtKB/Swiss-Prot : 75 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, is also known as joubert syndrome 11. 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

Clinical features from OMIM:

613820

Human phenotypes related to Nephronophthisis 12:

32
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 32 HP:0000090
2 stage 5 chronic kidney disease 32 HP:0003774

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 29 TTC21B
2 Joubert Syndrome 11 29

Anatomical Context for Nephronophthisis 12

MalaCards organs/tissues related to Nephronophthisis 12:

41
Kidney

Publications for Nephronophthisis 12

Variations for Nephronophthisis 12

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

75
# 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.His566Arg VAR_065529 rs146320075
5 TTC21B p.Ser591Asn VAR_065530
6 TTC21B p.Arg867Cys VAR_065539 rs746700857
7 TTC21B p.Tyr1167Cys VAR_065549 rs1040877016Nephronophthisis
8 TTC21B p.Met1186Val VAR_065550 rs376308209
9 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.3713G> A (p.Gly1238Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 166737281: 166737281
8 TTC21B NM_024753.4(TTC21B): c.3713G> A (p.Gly1238Glu) single nucleotide variant Uncertain significance 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 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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