MCID: NPH053
MIFTS: 23

Nephronophthisis 11

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 11

MalaCards integrated aliases for Nephronophthisis 11:

Name: Nephronophthisis 11 57 12 75 29 13 6 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 has symptoms including polyuria and polydipsia. An important gene associated with Nephronophthisis 11 is TMEM67 (Transmembrane Protein 67). Affiliated tissues include kidney, and related phenotypes are nephronophthisis and tubular atrophy

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

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

UMLS symptoms related to Nephronophthisis 11:


polyuria, polydipsia

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

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

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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