MCID: CYS036
MIFTS: 38

Cystinosis, Nephropathic malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases categories

Summaries for Cystinosis, Nephropathic

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OMIM:45 Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to... (219800) more...

MalaCards based summary: Cystinosis, Nephropathic, also known as nephropathic cystinosis, is related to cystinosis and juvenile nephropathic cystinosis, and has symptoms including autosomal recessive inheritance, renal insufficiency and proteinuria. An important gene associated with Cystinosis, Nephropathic is CTNS (cystinosin, lysosomal cystine transporter). The drugs cysteamine and cysteamine bitartrate have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and skin.

NIH Rare Diseases:41 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

Aliases & Classifications for Cystinosis, Nephropathic

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Sources:
45OMIM, 43Novoseek, 10diseasecard, 60UMLS, 41NIH Rare Diseases, 20GeneTests, 22GTR
See all sources

Cystinosis, Nephropathic, Aliases & Descriptions:

Name: Cystinosis, Nephropathic 45 43
Nephropathic Cystinosis 41 20 22 60
Cystinosis, Atypical Nephropathic 45 10
Lysosomal Cystine Transport Protein, Defect of 41
 
Cystinosin, Defect of 41
Fanconi Syndrome 60
Ctns 41


Classifications:



External Ids:

OMIM45 219800

Related Diseases for Cystinosis, Nephropathic

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



Diseases related to cystinosis, nephropathic

Symptoms for Cystinosis, Nephropathic

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Symptoms by clinical synopsis from OMIM:

219800

Clinical features from OMIM:

219800

HPO human phenotypes related to Cystinosis, Nephropathic:

(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 Cystinosis, Nephropathic

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Drug clinical trials:

Search ClinicalTrials for Cystinosis, Nephropathic

Search NIH Clinical Center for Cystinosis, Nephropathic

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Cystinosis, Nephropathic

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Genetic tests related to Cystinosis, Nephropathic:

id Genetic test Affiliating Genes
1 Nephropathic Cystinosis20 22 CTNS

Anatomical Context for Cystinosis, Nephropathic

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MalaCards organs/tissues related to Cystinosis, Nephropathic:

31
Eye, Kidney, Skin

Animal Models for Cystinosis, Nephropathic or affiliated genes

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Publications for Cystinosis, Nephropathic

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Articles related to Cystinosis, Nephropathic:

idTitleAuthorsYear
1
What's your diagnosis? Cystinosis (nephropathic cystinosis). (16761632)
2006

Variations for Cystinosis, Nephropathic

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

62 (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 Cystinosis, Nephropathic:

6 (show all 15)
id Gene Variation 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
15CTNSNM_001031681.2(CTNS): c.416C> T (p.Ser139Phe)single nucleotide variantPathogenicrs267606754GRCh37Chr 17, 3558601: 3558601

Expression for genes affiliated with Cystinosis, Nephropathic

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Search GEO for disease gene expression data for Cystinosis, Nephropathic.

Pathways for genes affiliated with Cystinosis, Nephropathic

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Compounds for genes affiliated with Cystinosis, Nephropathic

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GO Terms for genes affiliated with Cystinosis, Nephropathic

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Products for genes affiliated with Cystinosis, Nephropathic

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  • Antibodies
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  • Kits and Assays

Sources for Cystinosis, Nephropathic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet