MCID: NPH071
MIFTS: 21

Nephronophthisis 14

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 14

MalaCards integrated aliases for Nephronophthisis 14:

Name: Nephronophthisis 14 57 12 75 29 6 73
Joubert Syndrome 19 57 75 29 13 6 73
Nphp14 57 12 75
Nephronophthisis, Type 14 ) 40
Jbts19 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

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


HPO:

32
nephronophthisis 14:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:



Summaries for Nephronophthisis 14

UniProtKB/Swiss-Prot : 75 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, is also known as joubert syndrome 19. An important gene associated with Nephronophthisis 14 is ZNF423 (Zinc Finger Protein 423). Affiliated tissues include kidney, and related phenotypes are polycystic kidney dysplasia and nephronophthisis

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

Symptoms & Phenotypes for Nephronophthisis 14

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinal degeneration (in some patients)
leber congenital amaurosis (in some patients)

Genitourinary Kidneys:
nephronophthisis
polycystic kidney disease

Abdomen:
situs inversus (in 1 family)

Neurologic Central Nervous System:
cerebellar vermis hypoplasia


Clinical features from OMIM:

614844

Human phenotypes related to Nephronophthisis 14:

32
# Description HPO Frequency HPO Source Accession
1 polycystic kidney dysplasia 32 HP:0000113
2 nephronophthisis 32 HP:0000090
3 situs inversus totalis 32 occasional (7.5%) HP:0001696
4 cerebellar vermis hypoplasia 32 HP:0001320
5 retinal degeneration 32 occasional (7.5%) HP:0000546

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 29
2 Nephronophthisis 14 29 ZNF423

Anatomical Context for Nephronophthisis 14

MalaCards organs/tissues related to Nephronophthisis 14:

41
Kidney

Publications for Nephronophthisis 14

Variations for Nephronophthisis 14

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

75
# 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 86)
# 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 rs75294107 GRCh37 Chromosome 16, 49671101: 49671101
6 ZNF423 NM_015069.4(ZNF423): c.1962C> T (p.His654=) single nucleotide variant 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 rs150027129 GRCh37 Chromosome 16, 49669796: 49669796
14 ZNF423 NM_015069.4(ZNF423): c.3267C> T (p.Tyr1089=) single nucleotide variant 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 rs143934881 GRCh38 Chromosome 16, 49637043: 49637043
34 ZNF423 NM_015069.4(ZNF423): c.2109G> A (p.Ser703=) single nucleotide variant 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 rs117266679 GRCh37 Chromosome 16, 49672775: 49672775
44 ZNF423 NM_015069.4(ZNF423): c.288C> T (p.Asp96=) single nucleotide variant 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

Sources for Nephronophthisis 14

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