NPHP11
MCID: NPH053
MIFTS: 40

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 58 12 76 30 13 6 15 74
Nphp11 58 12 76
Nephronophthisis, Type 11 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood


HPO:

33
nephronophthisis 11:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 11

UniProtKB/Swiss-Prot : 76 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 joubert syndrome 2, 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 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 48)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 26.7 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP3
2 joubert syndrome 2 10.3 NPHP1 TMEM67
3 late-onset nephronophthisis 10.2 NPHP3 XPNPEP3
4 nephronophthisis-like nephropathy 1 10.2 NPHP1 XPNPEP3
5 nephronophthisis 3 10.2 NPHP1 NPHP3
6 nephronophthisis 4 10.2 NPHP1 NPHP4
7 joubert syndrome with renal anomalies 10.2 NPHP1 RPGRIP1L
8 renal-hepatic-pancreatic dysplasia 10.2 IQCB1 NPHP3
9 leber congenital amaurosis 10 10.1 CEP290 IQCB1
10 joubert syndrome 17 10.1 CEP290 NPHP1
11 infantile nephronophthisis 10.1 NPHP3 NPHP4
12 bardet-biedl syndrome 14 10.1 CEP290 TMEM67
13 joubert syndrome 14 10.1 NPHP4 RPGRIP1L
14 joubert syndrome with oculorenal anomalies 10.1 CC2D2A CEP290
15 nephronophthisis 19 10.1 NPHP1 NPHP4 TMEM67
16 bietti crystalline corneoretinal dystrophy 10.1 CEP290 IQCB1
17 meckel syndrome, type 5 10.1 NPHP4 RPGRIP1L
18 oligohydramnios 10.1 CC2D2A TMEM67
19 cogan syndrome 10.0 NPHP1 NPHP3 NPHP4
20 polycystic liver disease 1 with or without kidney cysts 10.0 NPHP1 NPHP4
21 joubert syndrome 3 10.0 AHI1 NPHP1
22 congenital hepatic fibrosis 9.9 CC2D2A RPGRIP1L TMEM67
23 encephalocele 9.9 CC2D2A CEP290 TMEM67
24 coach syndrome 9.9 CC2D2A RPGRIP1L TMEM67
25 pathologic nystagmus 9.9 CEP290 TMEM67
26 juvenile nephronophthisis 9.9 IQCB1 NPHP1 NPHP3 NPHP4
27 nephronophthisis 18 9.9 IQCB1 NPHP1 NPHP3 NPHP4
28 nephronophthisis 2 9.9 IQCB1 NPHP1 NPHP3 NPHP4
29 hydrolethalus syndrome 1 9.9 AHI1 TMEM67
30 apraxia 9.9 NPHP1 NPHP4
31 nephronophthisis 9 9.8 NPHP1 NPHP3 NPHP4 XPNPEP3
32 bardet-biedl syndrome 15 9.7 CC2D2A NPHP3 RPGRIP1L TMEM67
33 renal dysplasia 9.7 CEP290 NPHP4 SDCCAG8
34 nephronophthisis 16 9.7 CEP290 IQCB1 NPHP1 SDCCAG8
35 nephronophthisis 1 9.6 AHI1 NPHP1 NPHP3 NPHP4
36 joubert syndrome 6 9.6 AHI1 CEP290 NPHP1 TMEM67
37 meckel syndrome, type 3 9.5 CC2D2A CEP290 NPHP1 RPGRIP1L TMEM67
38 retinal aplasia 9.4 CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8
39 cystic kidney disease 9.4 CC2D2A NPHP1 NPHP3 NPHP4 TMEM67 XPNPEP3
40 fundus dystrophy 9.3 AHI1 CC2D2A CEP290 IQCB1 NPHP1
41 bardet-biedl syndrome 9.1 CEP290 NPHP1 NPHP4 RPGRIP1L SDCCAG8 TMEM67
42 leber congenital amaurosis 9.1 AHI1 CEP290 IQCB1 NPHP1 NPHP3 NPHP4
43 meckel syndrome, type 6 9.1 AHI1 CC2D2A NPHP1 NPHP4 RPGRIP1L TMEM67
44 bardet-biedl syndrome 13 8.6 AHI1 CC2D2A CEP290 NPHP3 RPGRIP1L SDCCAG8
45 meckel syndrome, type 1 8.6 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP4
46 joubert syndrome 1 8.4 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP3
47 retinitis pigmentosa 8.2 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP3
48 senior-loken syndrome 1 8.1 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

Human phenotypes related to Nephronophthisis 11:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 occasional (7.5%) HP:0000639
2 global developmental delay 33 occasional (7.5%) HP:0001263
3 strabismus 33 occasional (7.5%) HP:0000486
4 retinal degeneration 33 occasional (7.5%) HP:0000546
5 anisocoria 33 occasional (7.5%) HP:0009916
6 polydipsia 33 HP:0001959
7 anemia 33 HP:0001903
8 growth delay 33 HP:0001510
9 hepatic fibrosis 33 HP:0001395
10 nephronophthisis 33 HP:0000090
11 stage 5 chronic kidney disease 33 HP:0003774
12 tubular atrophy 33 HP:0000092
13 polyuria 33 HP:0000103
14 tubular basement membrane disintegration 33 HP:0005583
15 renal corticomedullary cysts 33 HP:0000108

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Nephronophthisis 11:


polydipsia, polyuria

MGI Mouse Phenotypes related to Nephronophthisis 11:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 AHI1 CC2D2A CEP290 NPHP1 NPHP3 NPHP4
2 cardiovascular system MP:0005385 9.85 CC2D2A CEP290 NPHP3 NPHP4 RPGRIP1L TMEM67
3 nervous system MP:0003631 9.81 AHI1 CC2D2A CEP290 NPHP1 NPHP3 NPHP4
4 craniofacial MP:0005382 9.73 CC2D2A CEP290 NPHP3 RPGRIP1L SDCCAG8 TMEM67
5 renal/urinary system MP:0005367 9.61 AHI1 CC2D2A CEP290 NPHP1 NPHP3 NPHP4
6 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 30 TMEM67

Anatomical Context for Nephronophthisis 11

MalaCards organs/tissues related to Nephronophthisis 11:

42
Kidney

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:

76
# 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 9.91 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 10.19 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP4
16 cytosol GO:0005829 10.18 AHI1 CC2D2A CEP290 IQCB1 NPHP1 NPHP3
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 13)
# 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 camera-type eye development GO:0043010 9.52 CC2D2A RPGRIP1L
4 heart looping GO:0001947 9.51 AHI1 NPHP3
5 cilium assembly GO:0060271 9.5 AHI1 CC2D2A CEP290 IQCB1 NPHP3 RPGRIP1L
6 non-motile cilium assembly GO:1905515 9.49 CC2D2A RPGRIP1L
7 hindbrain development GO:0030902 9.48 AHI1 CEP290
8 photoreceptor cell outer segment organization GO:0035845 9.46 AHI1 NPHP4
9 photoreceptor cell maintenance GO:0045494 9.43 IQCB1 NPHP3 NPHP4
10 maintenance of animal organ identity GO:0048496 9.4 IQCB1 NPHP3
11 visual behavior GO:0007632 9.37 NPHP1 NPHP4
12 positive regulation of bicellular tight junction assembly GO:1903348 9.32 NPHP1 NPHP4
13 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 protein binding GO:0005515 9.32 AHI1 CEP290 IQCB1 NPHP1 NPHP3 NPHP4

Sources for Nephronophthisis 11

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
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