NPHP14
MCID: NPH071
MIFTS: 30

Nephronophthisis 14 (NPHP14)

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

Aliases & Classifications for Nephronophthisis 14

MalaCards integrated aliases for Nephronophthisis 14:

Name: Nephronophthisis 14 58 12 76 30 6 15 74
Joubert Syndrome 19 58 76 30 13 6 74
Nphp14 58 12 76
Nephronophthisis, Type 14 ) 41
Jbts19 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype
four patients from 3 families have been reported (last curated february 2014)
nphp shows autosomal recessive inheritance
jbts shows autosomal dominant inheritance


HPO:

33

Classifications:



Summaries for Nephronophthisis 14

UniProtKB/Swiss-Prot : 76 Joubert syndrome 19: A form of Joubert syndrome, 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). JBTS19 patients have polycystic kidney disease, Leber congenital amaurosis, cerebellar vermis hypoplasia, and breathing abnormality. Nephronophthisis 14: An autosomal recessive disorder manifesting as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis 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.

MalaCards based summary : Nephronophthisis 14, also known as joubert syndrome 19, is related to nephronophthisis and leber congenital amaurosis. An important gene associated with Nephronophthisis 14 is ZNF423 (Zinc Finger Protein 423), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, and related phenotypes are situs inversus totalis and retinal degeneration

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous mutation in the ZNF423 gene on chromosome 16q12.1.

Description from OMIM: 614844

Related Diseases for Nephronophthisis 14

Graphical network of the top 20 diseases related to Nephronophthisis 14:



Diseases related to Nephronophthisis 14

Symptoms & Phenotypes for Nephronophthisis 14

Human phenotypes related to Nephronophthisis 14:

33
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 33 occasional (7.5%) HP:0001696
2 retinal degeneration 33 occasional (7.5%) HP:0000546
3 polycystic kidney dysplasia 33 HP:0000113
4 nephronophthisis 33 HP:0000090
5 cerebellar vermis hypoplasia 33 HP:0001320

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
nephronophthisis
polycystic kidney disease

Head And Neck Eyes:
retinal degeneration (in some patients)
leber congenital amaurosis (in some patients)

Neurologic Central Nervous System:
cerebellar vermis hypoplasia

Abdomen:
situs inversus (in 1 family)

Clinical features from OMIM:

614844

Drugs & Therapeutics for Nephronophthisis 14

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 14

Genetic Tests for Nephronophthisis 14

Genetic tests related to Nephronophthisis 14:

# Genetic test Affiliating Genes
1 Joubert Syndrome 19 30
2 Nephronophthisis 14 30 ZNF423

Anatomical Context for Nephronophthisis 14

MalaCards organs/tissues related to Nephronophthisis 14:

42
Kidney

Publications for Nephronophthisis 14

Articles related to Nephronophthisis 14:

# Title Authors Year
1
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. ( 22863007 )
2012

Variations for Nephronophthisis 14

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 14:

76
# Symbol AA change Variation ID SNP ID
1 ZNF423 p.Pro913Leu VAR_068501 rs200585917
2 ZNF423 p.His1277Tyr VAR_068502

ClinVar genetic disease variations for Nephronophthisis 14:

6 (show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF423 NM_001271620.2(ZNF423): c.2558C> T (p.Pro853Leu) single nucleotide variant Pathogenic rs200585917 GRCh37 Chromosome 16, 49670325: 49670325
2 ZNF423 NM_001271620.2(ZNF423): c.2558C> T (p.Pro853Leu) single nucleotide variant Pathogenic rs200585917 GRCh38 Chromosome 16, 49636414: 49636414
3 ZNF423 ZNF423, 1-BP DEL, 1518C deletion Pathogenic
4 ZNF423 ZNF423, HIS1277TYR single nucleotide variant Pathogenic
5 ZNF423 NM_015069.4(ZNF423): c.1962C> T (p.His654=) single nucleotide variant Benign/Likely benign rs75294107 GRCh37 Chromosome 16, 49671101: 49671101
6 ZNF423 NM_015069.4(ZNF423): c.1962C> T (p.His654=) single nucleotide variant Benign/Likely benign rs75294107 GRCh38 Chromosome 16, 49637190: 49637190
7 ZNF423 NM_015069.4(ZNF423): c.1631G> T (p.Gly544Val) single nucleotide variant Conflicting interpretations of pathogenicity rs34425379 GRCh37 Chromosome 16, 49671432: 49671432
8 ZNF423 NM_015069.4(ZNF423): c.1631G> T (p.Gly544Val) single nucleotide variant Conflicting interpretations of pathogenicity rs34425379 GRCh38 Chromosome 16, 49637521: 49637521
9 ZNF423 NM_015069.4(ZNF423): c.1989G> A (p.Ala663=) single nucleotide variant Benign/Likely benign rs143468235 GRCh37 Chromosome 16, 49671074: 49671074
10 ZNF423 NM_015069.4(ZNF423): c.1989G> A (p.Ala663=) single nucleotide variant Benign/Likely benign rs143468235 GRCh38 Chromosome 16, 49637163: 49637163
11 ZNF423 NM_015069.4(ZNF423): c.783C> T (p.Asp261=) single nucleotide variant Conflicting interpretations of pathogenicity rs145503941 GRCh37 Chromosome 16, 49672280: 49672280
12 ZNF423 NM_015069.4(ZNF423): c.783C> T (p.Asp261=) single nucleotide variant Conflicting interpretations of pathogenicity rs145503941 GRCh38 Chromosome 16, 49638369: 49638369
13 ZNF423 NM_015069.4(ZNF423): c.3267C> T (p.Tyr1089=) single nucleotide variant Benign/Likely benign rs150027129 GRCh37 Chromosome 16, 49669796: 49669796
14 ZNF423 NM_015069.4(ZNF423): c.3267C> T (p.Tyr1089=) single nucleotide variant Benign/Likely benign rs150027129 GRCh38 Chromosome 16, 49635885: 49635885
15 ZNF423 NM_015069.4(ZNF423): c.1144T> C (p.Ser382Pro) single nucleotide variant Uncertain significance rs142835239 GRCh37 Chromosome 16, 49671919: 49671919
16 ZNF423 NM_015069.4(ZNF423): c.1144T> C (p.Ser382Pro) single nucleotide variant Uncertain significance rs142835239 GRCh38 Chromosome 16, 49638008: 49638008
17 ZNF423 NM_015069.4(ZNF423): c.3826-9C> T single nucleotide variant Benign rs78514142 GRCh38 Chromosome 16, 49491313: 49491313
18 ZNF423 NM_015069.4(ZNF423): c.3826-9C> T single nucleotide variant Benign rs78514142 GRCh37 Chromosome 16, 49525224: 49525224
19 ZNF423 NM_015069.4(ZNF423): c.3337G> A (p.Ala1113Thr) single nucleotide variant Benign/Likely benign rs147898137 GRCh37 Chromosome 16, 49669726: 49669726
20 ZNF423 NM_015069.4(ZNF423): c.3337G> A (p.Ala1113Thr) single nucleotide variant Benign/Likely benign rs147898137 GRCh38 Chromosome 16, 49635815: 49635815
21 ZNF423 NM_015069.4(ZNF423): c.3327G> A (p.Pro1109=) single nucleotide variant Benign rs113531514 GRCh38 Chromosome 16, 49635825: 49635825
22 ZNF423 NM_015069.4(ZNF423): c.3327G> A (p.Pro1109=) single nucleotide variant Benign rs113531514 GRCh37 Chromosome 16, 49669736: 49669736
23 ZNF423 NM_015069.4(ZNF423): c.3202C> A (p.Leu1068Met) single nucleotide variant Benign rs79706004 GRCh37 Chromosome 16, 49669861: 49669861
24 ZNF423 NM_015069.4(ZNF423): c.3202C> A (p.Leu1068Met) single nucleotide variant Benign rs79706004 GRCh38 Chromosome 16, 49635950: 49635950
25 ZNF423 NM_015069.4(ZNF423): c.3140C> T (p.Ala1047Val) single nucleotide variant Benign/Likely benign rs111229124 GRCh38 Chromosome 16, 49636012: 49636012
26 ZNF423 NM_015069.4(ZNF423): c.3140C> T (p.Ala1047Val) single nucleotide variant Benign/Likely benign rs111229124 GRCh37 Chromosome 16, 49669923: 49669923
27 ZNF423 NM_015069.4(ZNF423): c.2538C> A (p.Pro846=) single nucleotide variant Benign rs12599354 GRCh37 Chromosome 16, 49670525: 49670525
28 ZNF423 NM_015069.4(ZNF423): c.2538C> A (p.Pro846=) single nucleotide variant Benign rs12599354 GRCh38 Chromosome 16, 49636614: 49636614
29 ZNF423 NM_015069.4(ZNF423): c.2511C> T (p.Thr837=) single nucleotide variant Benign rs77996576 GRCh38 Chromosome 16, 49636641: 49636641
30 ZNF423 NM_015069.4(ZNF423): c.2511C> T (p.Thr837=) single nucleotide variant Benign rs77996576 GRCh37 Chromosome 16, 49670552: 49670552
31 ZNF423 NM_015069.4(ZNF423): c.2304C> T (p.His768=) single nucleotide variant Benign rs73565356 GRCh38 Chromosome 16, 49636848: 49636848
32 ZNF423 NM_015069.4(ZNF423): c.2304C> T (p.His768=) single nucleotide variant Benign rs73565356 GRCh37 Chromosome 16, 49670759: 49670759
33 ZNF423 NM_015069.4(ZNF423): c.2109G> A (p.Ser703=) single nucleotide variant Benign/Likely benign rs143934881 GRCh38 Chromosome 16, 49637043: 49637043
34 ZNF423 NM_015069.4(ZNF423): c.2109G> A (p.Ser703=) single nucleotide variant Benign/Likely benign rs143934881 GRCh37 Chromosome 16, 49670954: 49670954
35 ZNF423 NM_015069.4(ZNF423): c.1886A> G (p.Asn629Ser) single nucleotide variant Benign rs34214571 GRCh38 Chromosome 16, 49637266: 49637266
36 ZNF423 NM_015069.4(ZNF423): c.1886A> G (p.Asn629Ser) single nucleotide variant Benign rs34214571 GRCh37 Chromosome 16, 49671177: 49671177
37 ZNF423 NM_015069.4(ZNF423): c.1845G> A (p.Pro615=) single nucleotide variant Benign rs16947741 GRCh38 Chromosome 16, 49637307: 49637307
38 ZNF423 NM_015069.4(ZNF423): c.1845G> A (p.Pro615=) single nucleotide variant Benign rs16947741 GRCh37 Chromosome 16, 49671218: 49671218
39 ZNF423 NM_015069.4(ZNF423): c.1545T> C (p.Asn515=) single nucleotide variant Benign rs13336762 GRCh38 Chromosome 16, 49637607: 49637607
40 ZNF423 NM_015069.4(ZNF423): c.1545T> C (p.Asn515=) single nucleotide variant Benign rs13336762 GRCh37 Chromosome 16, 49671518: 49671518
41 ZNF423 NM_015069.4(ZNF423): c.1170G> A (p.Pro390=) single nucleotide variant Benign rs61747467 GRCh38 Chromosome 16, 49637982: 49637982
42 ZNF423 NM_015069.4(ZNF423): c.1170G> A (p.Pro390=) single nucleotide variant Benign rs61747467 GRCh37 Chromosome 16, 49671893: 49671893
43 ZNF423 NM_015069.4(ZNF423): c.288C> T (p.Asp96=) single nucleotide variant Benign/Likely benign rs117266679 GRCh37 Chromosome 16, 49672775: 49672775
44 ZNF423 NM_015069.4(ZNF423): c.288C> T (p.Asp96=) single nucleotide variant Benign/Likely benign rs117266679 GRCh38 Chromosome 16, 49638864: 49638864
45 ZNF423 NM_015069.4(ZNF423): c.3369C> T (p.Pro1123=) single nucleotide variant Benign/Likely benign rs61755180 GRCh37 Chromosome 16, 49669694: 49669694
46 ZNF423 NM_015069.4(ZNF423): c.3369C> T (p.Pro1123=) single nucleotide variant Benign/Likely benign rs61755180 GRCh38 Chromosome 16, 49635783: 49635783
47 ZNF423 NM_015069.4(ZNF423): c.3443C> T (p.Pro1148Leu) single nucleotide variant Uncertain significance rs756742718 GRCh37 Chromosome 16, 49669620: 49669620
48 ZNF423 NM_015069.4(ZNF423): c.3443C> T (p.Pro1148Leu) single nucleotide variant Uncertain significance rs756742718 GRCh38 Chromosome 16, 49635709: 49635709
49 ZNF423 NM_015069.4(ZNF423): c.3312G> A (p.Val1104=) single nucleotide variant Benign rs61739947 GRCh37 Chromosome 16, 49669751: 49669751
50 ZNF423 NM_015069.4(ZNF423): c.3312G> A (p.Val1104=) single nucleotide variant Benign rs61739947 GRCh38 Chromosome 16, 49635840: 49635840

Expression for Nephronophthisis 14

Search GEO for disease gene expression data for Nephronophthisis 14.

Pathways for Nephronophthisis 14

GO Terms for Nephronophthisis 14

Cellular components related to Nephronophthisis 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.43 C2CD3 CEP76 NPHP4
2 centriole GO:0005814 9.16 C2CD3 CEP76
3 ciliary basal body GO:0036064 8.96 C2CD3 NPHP4
4 centrosome GO:0005813 8.8 C2CD3 CEP76 NPHP4

Biological processes related to Nephronophthisis 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 8.8 C2CD3 CEP76 NPHP4

Sources for Nephronophthisis 14

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....