NPHP11
MCID: NPH053
MIFTS: 41

Nephronophthisis 11 (NPHP11)

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

Aliases & Classifications for Nephronophthisis 11

MalaCards integrated aliases for Nephronophthisis 11:

Name: Nephronophthisis 11 57 12 75 29 13 6 15 73
Nphp11 57 12 75
Nephronophthisis, Type 11 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood


HPO:

32
nephronophthisis 11:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 11

UniProtKB/Swiss-Prot : 75 Nephronophthisis 11: A disorder characterized by the association of nephronophthisis with hepatic fibrosis. 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. Typical clinical features are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms, especially ocular lesions, are frequent.

MalaCards based summary : Nephronophthisis 11, also known as nphp11, is related to nephronophthisis and late-onset nephronophthisis, and has symptoms including polydipsia and polyuria. An important gene associated with Nephronophthisis 11 is TMEM67 (Transmembrane Protein 67), 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 liver, and related phenotypes are nystagmus and global developmental delay

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.

Description from OMIM: 613550

Related Diseases for Nephronophthisis 11

Diseases in the Nephronophthisis family:

Nephronophthisis 1 Nephronophthisis 2
Nephronophthisis 3 Nephronophthisis 4
Nephronophthisis 7 Nephronophthisis 11
Nephronophthisis 12 Nephronophthisis 9
Nephronophthisis 13 Nephronophthisis 14
Nephronophthisis 15 Nephronophthisis 16
Nephronophthisis 18 Nephronophthisis 19
Nephronophthisis 20 Infantile Nephronophthisis
Juvenile Nephronophthisis Late-Onset Nephronophthisis

Diseases related to Nephronophthisis 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 28.0 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP3
2 late-onset nephronophthisis 10.2 NPHP3 XPNPEP3
3 joubert syndrome 2 10.2 NPHP1 TMEM67
4 leber congenital amaurosis 10 10.1 CEP290 IQCB1
5 joubert syndrome 17 10.1 CEP290 NPHP1
6 nephronophthisis 3 10.1 NPHP1 NPHP3
7 nephronophthisis 4 10.1 NPHP1 NPHP4
8 infantile nephronophthisis 10.1 NPHP3 NPHP4
9 bardet-biedl syndrome 14 10.1 CEP290 TMEM67
10 renal-hepatic-pancreatic dysplasia 10.1 IQCB1 NPHP3
11 joubert syndrome with oculorenal anomalies 10.1 CC2D2A CEP290
12 bietti crystalline corneoretinal dystrophy 10.1 CEP290 IQCB1
13 nephronophthisis 19 10.1 NPHP1 NPHP4 TMEM67
14 joubert syndrome 3 10.0 AHI1 NPHP1
15 cogan syndrome 10.0 NPHP1 NPHP3 NPHP4
16 encephalocele 10.0 CC2D2A CEP290 TMEM67
17 nephronophthisis-like nephropathy 1 10.0 LAP3 NPHP1 XPNPEP3
18 oligohydramnios 10.0 CC2D2A TMEM67
19 joubert syndrome with renal anomalies 10.0 NPHP1 RPGRIP1L
20 hydrolethalus syndrome 1 10.0 AHI1 TMEM67
21 juvenile nephronophthisis 9.9 IQCB1 NPHP1 NPHP3 NPHP4
22 nephronophthisis 18 9.9 IQCB1 NPHP1 NPHP3 NPHP4
23 joubert syndrome 14 9.9 NPHP4 RPGRIP1L
24 nephronophthisis 2 9.9 IQCB1 NPHP1 NPHP3 NPHP4
25 meckel syndrome, type 5 9.9 NPHP4 RPGRIP1L
26 renal dysplasia 9.9 CEP290 NPHP4 SDCCAG8
27 polycystic liver disease 1 with or without kidney cysts 9.9 NPHP1 NPHP4
28 nephronophthisis 16 9.9 CEP290 IQCB1 NPHP1 SDCCAG8
29 congenital hepatic fibrosis 9.9 CC2D2A RPGRIP1L TMEM67
30 coach syndrome 9.8 CC2D2A RPGRIP1L TMEM67
31 nephronophthisis 1 9.8 AHI1 NPHP1 NPHP3 NPHP4
32 joubert syndrome 6 9.8 AHI1 CEP290 NPHP1 TMEM67
33 nephronophthisis 9 9.8 LAP3 NPHP1 NPHP3 NPHP4 XPNPEP3
34 bardet-biedl syndrome 15 9.7 CC2D2A NPHP3 RPGRIP1L TMEM67
35 retinal aplasia 9.7 CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8
36 cystic kidney disease 9.7 CC2D2A NPHP1 NPHP3 NPHP4 TMEM67 XPNPEP3
37 fundus dystrophy 9.6 AHI1 CC2D2A CEP290 IQCB1 NPHP1
38 meckel syndrome, type 3 9.6 CC2D2A CEP290 NPHP1 RPGRIP1L TMEM67
39 leber congenital amaurosis 9.6 AHI1 CEP290 IQCB1 NPHP1 NPHP3 NPHP4
40 bardet-biedl syndrome 9.4 CEP290 NPHP1 NPHP4 RPGRIP1L SDCCAG8 TMEM67
41 meckel syndrome, type 6 9.4 AHI1 CC2D2A NPHP1 NPHP4 RPGRIP1L TMEM67
42 bardet-biedl syndrome 13 9.2 AHI1 CC2D2A CEP290 NPHP3 RPGRIP1L SDCCAG8
43 meckel syndrome, type 1 9.1 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP4
44 senior-loken syndrome 1 9.0 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP3
45 joubert syndrome 1 9.0 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP3
46 retinitis pigmentosa 8.9 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP3

Graphical network of the top 20 diseases related to Nephronophthisis 11:



Diseases related to Nephronophthisis 11

Symptoms & Phenotypes for Nephronophthisis 11

Symptoms via clinical synopsis from OMIM:

57
Metabolic Features:
polydipsia
polyuria

Abdomen Liver:
hepatic fibrosis

Growth Other:
growth retardation

Neurologic Central Nervous System:
mild cortical atrophy (in 1 patient)
psychomotor retardation (in 1 patient)

Hematology:
anemia

Genitourinary Kidneys:
nephronophthisis
tubular atrophy
interstitial fibrosis
end stage renal disease
tubular basement membrane disintegration
more
Head And Neck Eyes:
retinal degeneration (in 1 patient)
anisocoria (in 1 patient)
strabismus (in 1 patient)
nystagmus (in 1 patient)


Clinical features from OMIM:

613550

Human phenotypes related to Nephronophthisis 11:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 global developmental delay 32 occasional (7.5%) HP:0001263
3 polydipsia 32 HP:0001959
4 anemia 32 HP:0001903
5 strabismus 32 occasional (7.5%) HP:0000486
6 growth delay 32 HP:0001510
7 hepatic fibrosis 32 HP:0001395
8 nephronophthisis 32 HP:0000090
9 stage 5 chronic kidney disease 32 HP:0003774
10 retinal degeneration 32 occasional (7.5%) HP:0000546
11 tubular atrophy 32 HP:0000092
12 polyuria 32 HP:0000103
13 anisocoria 32 occasional (7.5%) HP:0009916
14 tubular basement membrane disintegration 32 HP:0005583
15 renal corticomedullary cysts 32 HP:0000108

UMLS symptoms related to Nephronophthisis 11:


polydipsia, polyuria

MGI Mouse Phenotypes related to Nephronophthisis 11:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 AHI1 CC2D2A CEP290 NPHP1 NPHP3 NPHP4
2 nervous system MP:0003631 9.81 AHI1 CC2D2A CEP290 NPHP1 NPHP3 NPHP4
3 craniofacial MP:0005382 9.73 CC2D2A CEP290 NPHP3 RPGRIP1L SDCCAG8 TMEM67
4 renal/urinary system MP:0005367 9.61 AHI1 CC2D2A CEP290 NPHP1 NPHP3 NPHP4
5 vision/eye MP:0005391 9.17 AHI1 CC2D2A CEP290 NPHP1 NPHP4 RPGRIP1L

Drugs & Therapeutics for Nephronophthisis 11

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 11

Genetic Tests for Nephronophthisis 11

Genetic tests related to Nephronophthisis 11:

# Genetic test Affiliating Genes
1 Nephronophthisis 11 29 TMEM67

Anatomical Context for Nephronophthisis 11

MalaCards organs/tissues related to Nephronophthisis 11:

41
Kidney, Liver

Publications for Nephronophthisis 11

Articles related to Nephronophthisis 11:

# Title Authors Year
1
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. ( 20607301 )
2010

Variations for Nephronophthisis 11

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 11:

75
# Symbol AA change Variation ID SNP ID
1 TMEM67 p.Cys615Arg VAR_062319 rs201893408
2 TMEM67 p.Trp290Leu VAR_064185 rs267607117
3 TMEM67 p.Gly821Arg VAR_064186 rs267607116
4 TMEM67 p.Gly821Ser VAR_064187 rs267607116

ClinVar genetic disease variations for Nephronophthisis 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_001142301.1(TMEM67): c.2218G> A (p.Gly740Ser) single nucleotide variant Pathogenic rs267607116 GRCh37 Chromosome 8, 94821089: 94821089
2 TMEM67 NM_001142301.1(TMEM67): c.2218G> A (p.Gly740Ser) single nucleotide variant Pathogenic rs267607116 GRCh38 Chromosome 8, 93808861: 93808861
3 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
4 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
5 TMEM67 NM_001142301.1(TMEM67): c.626G> T (p.Trp209Leu) single nucleotide variant Pathogenic rs267607117 GRCh37 Chromosome 8, 94792975: 94792975
6 TMEM67 NM_001142301.1(TMEM67): c.626G> T (p.Trp209Leu) single nucleotide variant Pathogenic rs267607117 GRCh38 Chromosome 8, 93780747: 93780747
7 TMEM67 NM_001142301.1(TMEM67): c.2218G> C (p.Gly740Arg) single nucleotide variant Pathogenic rs267607116 GRCh37 Chromosome 8, 94821089: 94821089
8 TMEM67 NM_001142301.1(TMEM67): c.2218G> C (p.Gly740Arg) single nucleotide variant Pathogenic rs267607116 GRCh38 Chromosome 8, 93808861: 93808861
9 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
10 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh38 Chromosome 8, 93781725: 93781725

Expression for Nephronophthisis 11

Search GEO for disease gene expression data for Nephronophthisis 11.

Pathways for Nephronophthisis 11

GO Terms for Nephronophthisis 11

Cellular components related to Nephronophthisis 11 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP4
2 cell junction GO:0030054 9.92 AHI1 NPHP1 NPHP4 RPGRIP1L SDCCAG8
3 centrosome GO:0005813 9.91 AHI1 CEP290 IQCB1 NPHP4 RPGRIP1L SDCCAG8
4 microtubule organizing center GO:0005815 9.85 CEP290 IQCB1 NPHP4 RPGRIP1L
5 cell-cell junction GO:0005911 9.83 AHI1 NPHP1 NPHP4 RPGRIP1L SDCCAG8
6 centriole GO:0005814 9.78 AHI1 CEP290 IQCB1 SDCCAG8
7 ciliary basal body GO:0036064 9.76 AHI1 CEP290 NPHP4 RPGRIP1L
8 bicellular tight junction GO:0005923 9.71 NPHP1 NPHP4 RPGRIP1L
9 non-motile cilium GO:0097730 9.57 AHI1 NPHP4
10 centriolar satellite GO:0034451 9.56 CEP290 SDCCAG8
11 MKS complex GO:0036038 9.56 AHI1 CC2D2A CEP290 TMEM67
12 photoreceptor connecting cilium GO:0032391 9.55 CEP290 IQCB1 NPHP1 NPHP4 RPGRIP1L
13 ciliary transition zone GO:0035869 9.35 CC2D2A CEP290 NPHP4 RPGRIP1L TMEM67
14 cilium GO:0005929 9.23 AHI1 CC2D2A CEP290 NPHP1 NPHP3 NPHP4
15 cytoplasm GO:0005737 10.24 AHI1 CC2D2A CEP290 IQCB1 LAP3 NPHP1
16 cytosol GO:0005829 10.21 AHI1 CC2D2A CEP290 IQCB1 LAP3 NPHP1
17 cell projection GO:0042995 10.01 AHI1 CC2D2A CEP290 NPHP1 NPHP3 NPHP4

Biological processes related to Nephronophthisis 11 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.63 AHI1 CC2D2A CEP290 IQCB1 NPHP1 TMEM67
2 determination of left/right symmetry GO:0007368 9.61 CC2D2A NPHP3 RPGRIP1L
3 heart looping GO:0001947 9.51 AHI1 NPHP3
4 cilium assembly GO:0060271 9.5 AHI1 CC2D2A CEP290 IQCB1 NPHP3 RPGRIP1L
5 non-motile cilium assembly GO:1905515 9.49 CC2D2A RPGRIP1L
6 hindbrain development GO:0030902 9.48 AHI1 CEP290
7 photoreceptor cell outer segment organization GO:0035845 9.46 AHI1 NPHP4
8 photoreceptor cell maintenance GO:0045494 9.43 IQCB1 NPHP3 NPHP4
9 maintenance of animal organ identity GO:0048496 9.4 IQCB1 NPHP3
10 visual behavior GO:0007632 9.37 NPHP1 NPHP4
11 positive regulation of bicellular tight junction assembly GO:1903348 9.32 NPHP1 NPHP4
12 ciliary basal body-plasma membrane docking GO:0097711 9.28 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP4

Molecular functions related to Nephronophthisis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 manganese ion binding GO:0030145 8.96 LAP3 XPNPEP3
2 aminopeptidase activity GO:0004177 8.62 LAP3 XPNPEP3

Sources for Nephronophthisis 11

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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