CTNS
MCID: NPH021
MIFTS: 59

Nephropathic Cystinosis (CTNS) malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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Summaries for Nephropathic Cystinosis

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NIH Rare Diseases:42 Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. excess cystine forms crystals that can build up and damage cells. these crystals can negatively affect many systems in the body, especially the kidneys and eyes. there are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. all three types of cystinosis are caused by mutations in the ctns gene and inherited in an autosomal recessive pattern. last updated: 11/11/2011

MalaCards based summary: Nephropathic Cystinosis, also known as cystinosis, nephropathic, is related to cystinosis and fanconi syndrome, and has symptoms including An important gene associated with Nephropathic Cystinosis is CTNS (cystinosin, lysosomal cystine transporter), and among its related pathways are Metabolism of steroid hormones and vitamin D and Senescence and Autophagy. The compounds leuprolide acetate and anastrozole have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and liver, and related mouse phenotypes are reproductive system and nervous system.

Description from OMIM:46 219800

Aliases & Classifications for Nephropathic Cystinosis

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Sources:
62UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek
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Nephropathic Cystinosis, Aliases & Descriptions:

Name: Nephropathic Cystinosis 42 20 22 62
Cystinosis, Nephropathic 46 44
Lysosomal Cystine Transport Protein, Defect of 42
 
Cystinosin, Defect of 42
Fanconi Syndrome 62
Ctns 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


Related Diseases for Nephropathic Cystinosis

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Diseases in the Nephropathic Cystinosis family:

Juvenile Nephropathic Cystinosis

Diseases related to Nephropathic Cystinosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1cystinosis32.2CTNS, SHPK, LRP2
2fanconi syndrome30.4LRP2, CUBN, CTNS
3myopathy10.6
4juvenile nephropathic cystinosis10.5
5hypertension10.4
6cerebritis10.4
7thyroiditis10.4
8non-nephropathic cystinosis10.4
9hydrocephalus10.2
10liver disease10.2
11renal tubular acidosis10.2
12nephrocalcinosis10.2
13adenoiditis10.2
14portal hypertension10.2
15rickets10.2
16cystic kidney10.2
17hyperparathyroidism10.2
18intracranial hypertension10.2
19kidney disease10.2
20pancreatitis10.2
21papilledema10.2
22cystinosis, ocular nonnephropathic10.2
23vacuolar myopathy10.2
24intermediate cystinosis10.2
25cerebral atrophy10.2
26cystinosis, late-onset juvenile or adolescent nephropathic10.2
27cystinosis, atypical nephropathic10.2
28inflammatory bowel disease10.2
29ocular cystinosis10.2
30pituitary gland disease10.2CGA, GH1
31hypothalamic disease10.2GH1, CGA
32cataract10.1
33graft versus host disease10.1
34acute graft versus host disease10.1
35turner syndrome10.1GH1, CGA
36hyperprolactinemia10.1GH1, CGA
37precocious puberty10.1CGA, GH1
38hypopituitarism10.1CGA, GH1
39polycystic ovary syndrome10.1GH1, CGA
40hyperandrogenism10.0CGA, GH1
41hyperthyroidism10.0CGA, GH1
42hypothyroidism10.0CGA, LRP2
43prolactinoma10.0GH1, CGA
44acute myocardial infarction10.0
45b-cell lymphomas10.0
46diffuse large b-cell lymphoma10.0
47hepatocellular carcinoma10.0
48myocardial infarction10.0
49adenocarcinoma10.0
50lung cancer10.0

Graphical network of the top 20 diseases related to Nephropathic Cystinosis:



Diseases related to nephropathic cystinosis

Symptoms for Nephropathic Cystinosis

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Symptoms by clinical synopsis from OMIM:

219800

Clinical features from OMIM:

219800

HPO human phenotypes related to Nephropathic Cystinosis:

(show all 44)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 renal insufficiency HP:0000083
3 proteinuria HP:0000093
4 polyuria HP:0000103
5 recurrent corneal erosions HP:0000495
6 visual impairment HP:0000505
7 corneal crystals HP:0000531
8 photophobia HP:0000613
9 nephrolithiasis HP:0000787
10 diabetes mellitus HP:0000819
11 delayed puberty HP:0000823
12 primary hypothyroidism HP:0000832
13 rachitic rosary HP:0000897
14 hypohidrosis HP:0000966
15 hypopigmentation of the skin HP:0001010
16 failure to thrive in infancy HP:0001531
17 abnormality of the voice HP:0001608
18 exocrine pancreatic insufficiency HP:0001738
19 splenomegaly HP:0001744
20 dehydration HP:0001944
21 polydipsia HP:0001959
22 renal fanconi syndrome HP:0001994
23 frontal bossing HP:0002007
24 dysphagia HP:0002015
25 cerebral atrophy HP:0002059
26 hepatomegaly HP:0002240
27 progressive neurologic deterioration HP:0002344
28 delayed skeletal maturation HP:0002750
29 genu valgum HP:0002857
30 hyponatremia HP:0002902
31 microscopic hematuria HP:0002907
32 generalized aminoaciduria HP:0002909
33 metaphyseal widening HP:0003016
34 glycosuria HP:0003076
35 myopathy HP:0003198
36 amyotrophy HP:0003202
37 decreased plasma carnitine HP:0003234
38 male infertility HP:0003251
39 elevated intracellular cystine HP:0003358
40 short stature HP:0004322
41 episodic metabolic acidosis HP:0004911
42 hypophosphatemic rickets HP:0004912
43 hypopigmentation of hair HP:0005599
44 peripheral retinopathy HP:0007869

Drugs & Therapeutics for Nephropathic Cystinosis

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Drug clinical trials:

Search ClinicalTrials for Nephropathic Cystinosis

Search NIH Clinical Center for Nephropathic Cystinosis

Genetic Tests for Nephropathic Cystinosis

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Genetic tests related to Nephropathic Cystinosis:

id Genetic test Affiliating Genes
1 Nephropathic Cystinosis20 22 CTNS

Anatomical Context for Nephropathic Cystinosis

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MalaCards organs/tissues related to Nephropathic Cystinosis:

32
Kidney, Eye, Liver, Thyroid, Pituitary, Bone marrow, Bone

Animal Models for Nephropathic Cystinosis or affiliated genes

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MGI Mouse Phenotypes related to Nephropathic Cystinosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.0LRP2, BECN1, GH1, CASP4, CGA
2MP:00036317.4SQSTM1, CASP4, CGA, GH1, BECN1, LRP2
3MP:00053766.9GH1, CUBN, BECN1, CASP4, SQSTM1, CTNS

Publications for Nephropathic Cystinosis

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Articles related to Nephropathic Cystinosis:

(show top 50)    (show all 184)
idTitleAuthorsYear
1
Inhibition of Intracellular Clusterin Attenuates Cell Death in Nephropathic Cystinosis. (25071085)
2014
2
Quality of life is improved and kidney function preserved in patients with nephropathic cystinosis treated for 2 years with delayed-release cysteamine bitartrate. (24948347)
2014
3
Nephropathic cystinosis--a gap between developing and developed nations. (24693916)
2014
4
Nephrotic Range Protienuria as a Presenting Feature of Classical Nephropathic Cystinosis. (23775203)
2013
5
Executive function in nephropathic cystinosis. (23538568)
2013
6
A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. (22554716)
2012
7
p62/SQSTM1 prominently accumulates in renal proximal tubules in nephropathic cystinosis. (22714671)
2012
8
Synthesis and in vitro evaluation of novel pro-drugs for the treatment of nephropathic cystinosis. (21536447)
2011
9
Infantile nephropathic cystinosis. (21980659)
2011
10
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies. (20826102)
2010
11
Analysis of CTNS gene transcripts in nephropathic cystinosis. (20352457)
2010
12
Caspase-4 may play a role in loss of proximal tubules and renal injury in nephropathic cystinosis. (19705160)
2010
13
Long-term outcome of nephropathic cystinosis: a 20-year single-center experience. (20803298)
2010
14
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. (19580442)
2009
15
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. (18455850)
2008
16
In vivo confocal microscopy and polarizing microscopy of the cornea in a patient with nephropathic cystinosis. (17430525)
2007
17
High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation. (16126874)
2005
18
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. (12204010)
2002
19
In vivo confocal microscopy of the cornea in nephropathic cystinosis. (12470153)
2002
20
Pulmonary dysfunction in adults with nephropathic cystinosis. (11171714)
2001
21
Long-term treatment with growth hormone in short children with nephropathic cystinosis. (11391333)
2001
22
The molecular basis of Dutch infantile nephropathic cystinosis. (11528232)
2001
23
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. (11001803)
2000
24
Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. (10417278)
1999
25
Myopathy in two siblings with nephropathic cystinosis. (10210897)
1998
26
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. (9537412)
1998
27
Massive tumour-like testicular cystine accumulation in a patient with infantile nephropathic cystinosis. (9488087)
1998
28
Tactile recognition in infantile nephropathic cystinosis. (9233367)
1997
29
Visuomotor performance in children with infantile nephropathic cystinosis. (8668504)
1996
30
Growth and pubertal development in nephropathic cystinosis. (8444253)
1993
31
Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis. (1552398)
1992
32
Neurophysiologic studies of the peripheral nervous system in nephropathic cystinosis. (2021367)
1991
33
Cortical atrophy and cognitive performance in infantile nephropathic cystinosis. (2073300)
1990
34
The effect of topical cysteamine drops on reducing crystal formation within the cornea of patients affected by nephropathic cystinosis. (2246744)
1990
35
Nephropathic cystinosis: improved linear growth after treatment with recombinant human growth hormone. (2809911)
1989
36
Infantile nephropathic cystinosis presenting as incomplete Fanconi syndrome and refractory rickets. (2807481)
1989
37
Hearing loss and adenoidal hypertrophy in an adolescent with nephropathic cystinosis. (2512560)
1989
38
Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. (3185663)
1988
39
Complications of nephropathic cystinosis after renal failure. (3153286)
1987
40
Corneal crystals in nephropathic cystinosis. (3627194)
1987
41
Corneal transplant in boy with nephropathic cystinosis. (2880145)
1987
42
Removal of corneal crystals by topical cysteamine in nephropathic cystinosis. (3821824)
1987
43
Recurrent crystal deposition after keratoplasty in nephropathic cystinosis. (3303948)
1987
44
Cerebral atrophy and nephropathic cystinosis. (3707194)
1986
45
Pituitary secretion of alpha and beta subunits of thyroid-stimulating hormone (TSH) in nephropathic cystinosis. (6202655)
1984
46
Veno-occlusive disease of the liver associated with cysteamine treatment of nephropathic cystinosis. (6842343)
1983
47
Nonabsorptive hydrocephalus associated with nephropathic cystinosis. (6890639)
1982
48
Circulating cryoglobulins in nephropathic cystinosis. (7205456)
1981
49
Effects of cysteamine therapy in nephropathic cystinosis. (7442733)
1981
50
Evidence for cerebral involvement in nephropathic cystinosis. (582846)
1979

Variations for Nephropathic Cystinosis

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UniProtKB/Swiss-Prot genetic disease variations for Nephropathic Cystinosis:

64 (show all 25)
id Symbol AA change Variation ID SNP ID
1CTNSp.Gly169AspVAR_010286
2CTNSp.Ile133PheVAR_010677
3CTNSp.Ser139PheVAR_010678
4CTNSp.Leu158ProVAR_010680
5CTNSp.Trp182ArgVAR_010681
6CTNSp.Asp205AsnVAR_010683
7CTNSp.Asp305GlyVAR_010690
8CTNSp.Asp305TyrVAR_010691
9CTNSp.Gly308ArgVAR_010692
10CTNSp.Leu338ProVAR_010694
11CTNSp.Gly339ArgVAR_010695
12CTNSp.Asp346AsnVAR_010698
13CTNSp.Ser298AsnVAR_012315
14CTNSp.Gly110ValVAR_037318
15CTNSp.Gln222ArgVAR_037321
16CTNSp.Asn288LysVAR_037322
17CTNSp.Arg151GlyVAR_067490
18CTNSp.Gly157AspVAR_067491
19CTNSp.Tyr173CysVAR_067492
20CTNSp.Asn177SerVAR_067493
21CTNSp.Met287IleVAR_067494
22CTNSp.Gly308ValVAR_067495
23CTNSp.Gly309AspVAR_067496
24CTNSp.Gly337ArgVAR_067497
25CTNSp.Leu338ArgVAR_067498

Clinvar genetic disease variations for Nephropathic Cystinosis:

6 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1CTNSNM_001031681.2(CTNS): c.198_218del21 (p.Ile67_Pro73del)deletionPathogenicrs113994204GRCh37Chr 17, 3552198: 3552218
2CTNSNM_001031681.2(CTNS): c.473T> C (p.Leu158Pro)single nucleotide variantPathogenicrs113994206GRCh37Chr 17, 3559792: 3559792
3CTNSNM_001031681.2(CTNS): c.613G> A (p.Asp205Asn)single nucleotide variantPathogenicrs113994208GRCh37Chr 17, 3560021: 3560021
4CTNSNM_001031681.2(CTNS): c.696dupC (p.Val233Argfs)duplicationPathogenicrs113994209GRCh37Chr 17, 3561313: 3561314
5CTNSNM_001031681.2(CTNS): c.559_561+24del27deletionPathogenicrs113994211GRCh37Chr 17, 3559878: 3559904
6CTNSNM_001031681.2(CTNS): c.283G> T (p.Gly95Ter)single nucleotide variantPathogenicrs121908124GRCh37Chr 17, 3558349: 3558349
7CTNSCTNS, 2-BP DEL, 397TGdeletionPathogenic
8CTNSNM_001031681.2(CTNS): c.414G> A (p.Trp138Ter)single nucleotide variantPathogenicrs113994205GRCh37Chr 17, 3558599: 3558599
9CTNSCTNS, 4-BP DEL, 18GACTdeletionPathogenic
10CTNSNC_000017.11: g.3600934_3658165del57232deletionPathogenicGRCh37Chr 17, 3504228: 3561459
11CTNSNM_001031681.2(CTNS): c.506G> A (p.Gly169Asp)single nucleotide variantPathogenicrs121908126GRCh37Chr 17, 3559825: 3559825
12CTNSCTNS, 5-BP DEL, NT545deletionPathogenic
13CTNSCTNS, -295G-Csingle nucleotide variantPathogenic
14CTNSNM_001031681.2(CTNS): c.1015G> A (p.Gly339Arg)single nucleotide variantPathogenicrs121908127GRCh37Chr 17, 3563574: 3563574

Expression for genes affiliated with Nephropathic Cystinosis

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Expression patterns in normal tissues for genes affiliated with Nephropathic Cystinosis

Search GEO for disease gene expression data for Nephropathic Cystinosis.

Pathways for genes affiliated with Nephropathic Cystinosis

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Pathways related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4CGA, CUBN, LRP2
29.0SQSTM1, MAP1LC3A, BECN1
38.7SQSTM1, CASP4, BECN1

Compounds for genes affiliated with Nephropathic Cystinosis

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Compounds related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1leuprolide acetate4410.1CGA, GH1
2anastrozole44 50 1112.1CGA, GH1
3cystine4410.1CGA, CTNS
4clomiphene citrate4410.1CGA, GH1
5cabergoline44 28 1112.1CGA, GH1
6metoclopramide44 50 1112.0CGA, GH1
7cobalamin44 2411.0CUBN, LRP2
8bromocriptine44 28 1111.8CGA, GH1
9clonidine44 50 28 1112.8CGA, GH1
1025-hydroxyvitamin d449.8LRP2, CUBN
11thyroxine44 2410.8LRP2, GH1, CGA
12naloxone44 28 50 1112.7GH1, CGA
13folate449.7LRP2, CUBN, CGA
14calcitriol44 61 24 1112.6LRP2, CUBN, GH1
15norepinephrine44 24 1111.6CGA, SQSTM1, GH1
16dehydroepiandrosterone sulfate449.5CGA, GH1
17vitamin d449.4CGA, GH1, CUBN, LRP2
18steroid449.2LRP2, CUBN, GH1, CGA
19indomethacin44 28 61 1112.2GH1, CASP4, CGA
20serine448.7CGA, SQSTM1, GH1, BECN1, LRP2

GO Terms for genes affiliated with Nephropathic Cystinosis

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Cellular components related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1autophagic vacuoleGO:0057769.8MAP1LC3A, SQSTM1
2lysosomeGO:0057649.7CTNS, SQSTM1, LRP2
3coated pitGO:0059059.7CUBN, LRP2
4brush border membraneGO:0315269.6CUBN, LRP2
5late endosomeGO:0057709.6CTNS, SQSTM1, MAP1LC3A
6lysosomal membraneGO:0057659.5CTNS, CUBN, LRP2
7endocytic vesicleGO:0301399.4CUBN, LRP2
8extracellular vesicular exosomeGO:0700628.6LRP2, CUBN, SQSTM1, TAX1BP3, CTNS

Biological processes related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vitamin D metabolic processGO:0423599.8CUBN, LRP2
2receptor-mediated endocytosisGO:0068989.7CUBN, LRP2
3steroid metabolic processGO:0082029.4CUBN, LRP2
4autophagic vacuole assemblyGO:0000459.3MAP1LC3A, BECN1
5regulation of inflammatory responseGO:0507279.1SHPK, CASP4

Molecular functions related to Nephropathic Cystinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.1CGA, TAX1BP3, SQSTM1, MAP1LC3A, GH1, BECN1

Products for genes affiliated with Nephropathic Cystinosis

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  • Antibodies
  • Proteins
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Sources for Nephropathic Cystinosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet