NPHP11
MCID: NPH053
MIFTS: 43

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 56 12 73 29 13 6 15 71
Nphp11 56 12 73
Nephronophthisis, Type 11 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood


HPO:

31
nephronophthisis 11:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 11

UniProtKB/Swiss-Prot : 73 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 coach syndrome and nephronophthisis 1, 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, liver and eye, 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.

More information from OMIM: 613550 PS256100

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 top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 coach syndrome 30.3 TMEM67 RPGRIP1L CC2D2A
2 nephronophthisis 1 29.4 NPHP4 NPHP3 NPHP1 MKS1 INVS
3 joubert syndrome 6 28.7 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
4 retinal degeneration 28.5 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1
5 meckel syndrome, type 3 27.4 TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP3 NPHP1
6 cystic kidney disease 25.9 TTC21B TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP3
7 meckel syndrome, type 1 24.9 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
8 joubert syndrome 1 24.9 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
9 nephronophthisis 24.7 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
10 joubert syndrome 20 10.3 TMEM67 NPHP4
11 cone-rod dystrophy 13 10.3 RPGRIP1L NPHP4
12 retinal ciliopathy 10.2 IQCB1 CEP290
13 nephronophthisis 4 10.2 NPHP4 NPHP1
14 meckel syndrome, type 7 10.2 TMEM216 NPHP3
15 hyperuricemic nephropathy, familial juvenile, 1 10.2 NPHP4 NPHP1
16 congenital hepatic fibrosis 10.1 TMEM67 RPGRIP1L CC2D2A
17 bardet-biedl syndrome 10 10.1 TMEM216 NPHP1
18 leber congenital amaurosis 10 10.1 IQCB1 CEP290
19 rhyns syndrome 10.1
20 senior-boichis syndrome 10.1
21 joubert syndrome 24 10.1 RPGRIP1L NPHP1 CEP290
22 polycystic kidney disease 10.1 TMEM67 NPHP3 INVS
23 joubert syndrome 14 10.1 TMEM216 RPGRIP1L NPHP4
24 simpson-golabi-behmel syndrome, type 2 10.1 SDCCAG8 CEP290
25 leber congenital amaurosis 6 10.0 MKS1 CEP290
26 caroli disease 10.0 NPHP3 NPHP1 INVS
27 arima syndrome 10.0 TMEM216 CEP290 CC2D2A
28 joubert syndrome 21 10.0 SDCCAG8 NPHP4 NPHP1
29 pathologic nystagmus 9.9 TMEM67 MKS1 CEP290
30 bardet-biedl syndrome 16 9.9 SDCCAG8 MKS1
31 bardet-biedl syndrome 8 9.9 MKS1 CEP290
32 cogan syndrome 9.9 NPHP4 NPHP1 CEP290 CC2D2A
33 bardet-biedl syndrome 11 9.9 SDCCAG8 MKS1
34 polycystic liver disease 1 with or without kidney cysts 9.8 NPHP4 NPHP1
35 alstrom syndrome 9.8 NEK9 CEP290
36 bardet-biedl syndrome 3 9.8 MKS1 CEP290
37 bardet-biedl syndrome 13 9.7 SDCCAG8 MKS1 CEP290
38 asphyxiating thoracic dystrophy 9.7 TTC21B RPGRIP1L NPHP4
39 encephalocele 9.7 TMEM67 MKS1 CEP290 CC2D2A
40 short-rib thoracic dysplasia 6 with or without polydactyly 9.6 TTC21B TMEM67 TMEM216
41 joubert syndrome 10 9.6 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A
42 cone-rod dystrophy 2 9.6 NPHP4 NPHP1 IQCB1 CEP290
43 joubert syndrome 9 9.6 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A
44 ellis-van creveld syndrome 9.6 TTC21B TMEM216 RPGRIP1L
45 juvenile nephronophthisis 9.6 NPHP4 NPHP3 NPHP1 IQCB1 INVS
46 retinal aplasia 9.5 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
47 oligohydramnios 9.5 TMEM67 NEK9 MKS1 CC2D2A
48 joubert syndrome 13 9.4 TTC21B TMEM67 TMEM216 CC2D2A
49 infantile nephronophthisis 9.4 TTC21B NPHP4 NPHP3 INVS
50 eye disease 9.4 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 global developmental delay 31 occasional (7.5%) HP:0001263
3 retinal degeneration 31 occasional (7.5%) HP:0000546
4 strabismus 31 occasional (7.5%) HP:0000486
5 anisocoria 31 occasional (7.5%) HP:0009916
6 polydipsia 31 HP:0001959
7 anemia 31 HP:0001903
8 growth delay 31 HP:0001510
9 hepatic fibrosis 31 HP:0001395
10 nephronophthisis 31 HP:0000090
11 stage 5 chronic kidney disease 31 HP:0003774
12 psychomotor retardation 31 HP:0025356
13 tubular atrophy 31 HP:0000092
14 polyuria 31 HP:0000103
15 renal corticomedullary cysts 31 HP:0000108
16 tubular basement membrane disintegration 31 HP:0005583

Symptoms via clinical synopsis from OMIM:

56
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
tubular basement membrane disintegration
interstitial fibrosis
end stage renal disease
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:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 CC2D2A CEP290 INVS MKS1 NPHP1 NPHP3
2 cardiovascular system MP:0005385 10.16 CC2D2A CEP290 INVS MKS1 NEK9 NPHP3
3 growth/size/body region MP:0005378 10.1 CC2D2A CEP290 INVS IQCB1 MKS1 NPHP3
4 craniofacial MP:0005382 10.08 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L SDCCAG8
5 embryo MP:0005380 10.03 CC2D2A INVS MKS1 NEK9 NPHP3 RPGRIP1L
6 mortality/aging MP:0010768 10.02 CC2D2A CEP290 INVS IQCB1 MKS1 NEK9
7 nervous system MP:0003631 9.96 CC2D2A CEP290 MKS1 NPHP1 NPHP3 NPHP4
8 digestive/alimentary MP:0005381 9.93 CC2D2A INVS MKS1 RPGRIP1L SDCCAG8 TMEM67
9 renal/urinary system MP:0005367 9.9 CC2D2A CEP290 INVS MKS1 NPHP1 NPHP3
10 limbs/digits/tail MP:0005371 9.85 CC2D2A MKS1 RPGRIP1L SDCCAG8 TMEM67 TTC21B
11 skeleton MP:0005390 9.5 CEP290 IQCB1 MKS1 NPHP3 RPGRIP1L TMEM67
12 vision/eye MP:0005391 9.17 CC2D2A CEP290 MKS1 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:

40
Kidney, Liver, Eye

Publications for Nephronophthisis 11

Articles related to Nephronophthisis 11:

# Title Authors PMID Year
1
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 61 56 6
19508969 2009
2
Nephronophthisis 6
27336129 2016
3
Congenital hepatic fibrosis and nephronophthisis. A family study. 56
4688793 1973
4
EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT). 61
28726664 2017
5
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. 61
23188109 2012
6
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 61
21866095 2011
7
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 61
20607301 2010
8
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. 61
20179356 2010

Variations for Nephronophthisis 11

ClinVar genetic disease variations for Nephronophthisis 11:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM67 NM_001142301.1(TMEM67):c.2218G>A (p.Gly740Ser)SNV Pathogenic 1382 rs267607116 8:94821089-94821089 8:93808861-93808861
2 TMEM67 NM_001142301.1(TMEM67):c.2218G>C (p.Gly740Arg)SNV Pathogenic 1385 rs267607116 8:94821089-94821089 8:93808861-93808861
3 TMEM67 NM_001142301.1(TMEM67):c.626G>T (p.Trp209Leu)SNV Pathogenic 1384 rs267607117 8:94792975-94792975 8:93780747-93780747
4 TMEM67 NM_001142301.1(TMEM67):c.803T>C (p.Leu268Ser)SNV Pathogenic/Likely pathogenic 56762 rs386834180 8:94793953-94793953 8:93781725-93781725
5 TMEM67 NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
6 TMEM67 NM_001142301.1(TMEM67):c.872C>A (p.Thr291Lys)SNV Pathogenic/Likely pathogenic 217726 rs863225235 8:94794672-94794672 8:93782444-93782444
7 TMEM67 NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
8 TMEM67 NM_001142301.1(TMEM67):c.1766C>T (p.Thr589Ile)SNV Uncertain significance 497917 rs370004832 8:94809607-94809607 8:93797379-93797379

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

73
# 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

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 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.29 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
2 cytosol GO:0005829 10.26 TMEM216 SDCCAG8 RPGRIP1L NPHP4 NPHP3 NPHP1
3 cytoskeleton GO:0005856 10.03 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
4 centrosome GO:0005813 10.01 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NEK9 MKS1
5 microtubule organizing center GO:0005815 9.93 SDCCAG8 RPGRIP1L NPHP4 MKS1 IQCB1 CEP290
6 cell projection GO:0042995 9.93 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4
7 ciliary basal body GO:0036064 9.83 SDCCAG8 RPGRIP1L NPHP4 MKS1 CEP290
8 cell-cell junction GO:0005911 9.81 SDCCAG8 RPGRIP1L NPHP4 NPHP1
9 centriole GO:0005814 9.8 SDCCAG8 MKS1 IQCB1 CEP290
10 photoreceptor connecting cilium GO:0032391 9.77 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
11 MKS complex GO:0036038 9.72 TMEM67 TMEM216 MKS1 CEP290 CC2D2A
12 bicellular tight junction GO:0005923 9.71 RPGRIP1L NPHP4 NPHP1
13 ciliary transition zone GO:0035869 9.56 TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP1 MKS1
14 cilium GO:0005929 9.36 TTC21B TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.76 TMEM67 TMEM216 RPGRIP1L NPHP3 MKS1 IQCB1
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.74 NPHP4 NPHP3 INVS
3 smoothened signaling pathway GO:0007224 9.7 TTC21B MKS1 CC2D2A
4 determination of left/right symmetry GO:0007368 9.62 RPGRIP1L NPHP3 MKS1 CC2D2A
5 photoreceptor cell maintenance GO:0045494 9.58 NPHP4 NPHP3 IQCB1
6 motile cilium assembly GO:0044458 9.56 MKS1 CC2D2A
7 non-motile cilium assembly GO:1905515 9.56 TMEM216 RPGRIP1L MKS1 CC2D2A
8 cell projection organization GO:0030030 9.56 TMEM67 TMEM216 SDCCAG8 NPHP1 MKS1 IQCB1
9 head development GO:0060322 9.55 RPGRIP1L MKS1
10 embryonic brain development GO:1990403 9.54 MKS1 CC2D2A
11 regulation of smoothened signaling pathway GO:0008589 9.54 TTC21B RPGRIP1L MKS1
12 protein localization to ciliary transition zone GO:1904491 9.51 NPHP4 CC2D2A
13 positive regulation of bicellular tight junction assembly GO:1903348 9.49 NPHP4 NPHP1
14 maintenance of animal organ identity GO:0048496 9.48 NPHP3 IQCB1
15 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.46 NPHP3 MKS1
16 visual behavior GO:0007632 9.43 NPHP4 NPHP1
17 ciliary basal body-plasma membrane docking GO:0097711 9.32 TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4 NPHP1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.44 TTC21B TMEM67 TMEM216 SDCCAG8 RPGRIP1L NPHP4

Sources for Nephronophthisis 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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