Cystinosis malady

NIH Rare Diseases: 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.³⁰

MalaCards: Cystinosis, also known as cystine storage disease, is related to nephropathic cystinosis and fanconi syndrome. An important gene associated with Cystinosis is CTNS (cystinosin, lysosomal cystine transporter), and among its related pathways is Neuroactive ligand-receptor interaction. The drugs cysteamine and cysteamine bitartrate and the compounds gnrh and propranolol have been mentioned in the context of this disorder. Affiliated tissues include kidney and pituitary, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Genetics Home Reference: Cystinosis is a condition in which the body accumulates the amino acid cystine (a building block of proteins) within cells. Excess cystine forms crystals that can build up and damage cells. These crystals negatively affect many systems in the body, especially the kidneys and eyes.¹⁷

Wikipedia: Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid...⁴⁴ more...

GeneReviews summary for ctns

Aliases & Descriptions:

cystinosis 6 7 15 30 17 8 32 43 cystine storage disease 6 30 17 cystinosis (disorder) 6 16 cystinoses 30 17

cystinosis (disorder) 6 cystine diathesis 30 cystine disease 30

Diseases related to cystinosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 262)

id	Related Disease	Score	Top Affiliating Genes
1	nephropathic cystinosis	34.0	LRP2, P2RX5, CGA, ITGAE, CASP4, GH1
2	fanconi syndrome	29.5	LRP2, ALB, CUBN, CTNS
3	prolactinoma	26.4	CGA, INS, GH1, SST, PRL
4	diabetes mellitus	22.5	REN, VNN1, LCAT, CGA, INS, ALB
5	robinow syndrome	13.5	CGA, GH1
6	glutathione synthetase deficiency	13.3	GSS, OPLAH
7	cerebral lymphoma	13.3	LRP2, SST
8	11-beta-hydroxylase deficiency	13.2	REN, GH1
9	tsh producing pituitary tumor	13.2	GH1, PRL
10	chromophobe adenoma	13.2	GH1, PRL
11	aromatase deficiency	13.2	LRP2, INS, GH1
12	dent disease	13.1	LRP2, REN, GH1, CUBN
13	hemolytic anemia	13.1	LCAT, GSS, OPLAH
14	mccune albright syndrome	13.1	GH1, PRL
15	pancreatic cholera	13.1	SST, GAST
16	apudoma	13.1	SST, GAST
17	pituitary gland disease	13.1	CGA, GH1, PRL
18	hypothalamic disease	13.1	CGA, GH1, PRL
19	pancreatic islet cell tumors	13.1	SST, GAST
20	gonadotropin deficiency	13.0	CGA, GH1, PRL
21	vipoma	13.0	GH1, SST, GAST
22	familial male-limited precocious puberty	13.0	CGA, GH1, PRL
23	renal tubular dysgenesis	13.0	REN, ACE
24	malignant hypertension	13.0	REN, ACE
25	pseudohypoparathyroidism type ia	13.0	GH1, PRL
26	renovascular hypertension	12.9	REN, ACE
27	lipoprotein glomerulopathy	12.9	LCAT, ALB
28	oligohydramnios	12.9	REN, CGA, ACE
29	rabson-mendenhall syndrome	12.9	INS, GH1
30	kwashiorkor	12.8	LCAT, ALB
31	prolactin producing pituitary tumor	12.8	SST, PRL
32	pituitary-dependent cushing's disease	12.8	GH1, SST, PRL
33	sexual disorder	12.8	INS, PRL
34	abetalipoproteinemia	12.8	REN, LCAT, PRL
35	adrenal gland hyperfunction	12.8	INS, PRL
36	pseudohypoparathyroidism	12.8	REN, GH1, PRL
37	nephrosclerosis	12.7	LCAT, INS, ACE
38	chylous ascites	12.7	ALB, SST
39	familial juvenile hyperuricemic nephropathy	12.7	REN, INS
40	carcinoid tumors	12.7	CGA, GH1, SST, GAST
41	pituitary apoplexy	12.7	INS, GH1, PRL
42	esophageal varix	12.7	ALB, SST
43	anovulation	12.7	CGA, INS, PRL
44	combined pituitary hormone deficiency	12.7	INS, GH1, PRL
45	empty sella syndrome	12.7	INS, PRL
46	pituitary hormone deficiency	12.7	INS, GH1, PRL
47	hypertensive nephropathy	12.7	ALB, ACE
48	postural hypotension	12.7	REN, INS, SST
49	acanthosis nigricans	12.7	INS, GH1, PRL
50	delayed puberty	12.7	REN, CGA, GH1, PRL

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 cysteamine, cysteamine bitartrate

Genetic tests related to cystinosis:

id	Genetic test	Affiliating Genes
1	Cystinosis clinical/research	CTNS

MalaCards organs/tissues related to cystinosis:

²²

MGI Mouse Phenotypes related to cystinosis:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	10.0	DAZAP1, LRP2
2	reproductive system phenotype	MP:0005389	8.3	DAZAP1, GH1, CGA, LAMP2, BECN1, REN
3	renal/urinary system phenotype	MP:0005367	7.2	ACE, CTNS, CUBN, TRPV1, ALB, INS
4	growth/size phenotype	MP:0005378	6.0	ACE, CUBN, SST, DAZAP1, TRPV1, GH1
5	immune system phenotype	MP:0005387	5.9	TRPV1, SST, ACE, PRL, GAST, CASP4
6	homeostasis/metabolism phenotype	MP:0005376	4.5	LRP2, GAST, PRL, ACE, CTNS, CUBN

Articles related to cystinosis:

(show top 50)    (show all 60)

id	Title	Authors	Year	Affiliating Genes
1	Two novel CTNS mutations in cystinosis patients in Thailand. (22450360)	Yeetong P.... Shotelersuk V.	2012	CTNS
2	The 57 kb deletion in cystinosis patients extends int o TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells. (21546516)	Freed K.A.... Moses E.K.	2011	TRPV1
3	Caspase-4 may play a role in loss of proximal tubules and renal injury in nephropathic cystinosis. (19705160)	Sansanwal P.... Sarwal M.M.	2010	CASP4
4	Growth retardation in children with cystinosis. (20467383)	Besouw M.... Levtchenko E.	2010	CTNS
5	Mitochondrial autophagy promotes cellular injury in n ephropathic cystinosis. (19959713)	Sansanwal P.... Sarwal M.M.	2010	BECN1
6	Characterization of CTNS mutations in Arab patients w ith cystinosis. (19852576)	Aldahmesh M.A.... Alkuraya F.S.	2009	CTNS
7	Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis. (19259134)	Lebre A.S.... Antignac C.	2009	CTNS
8	Analysis of the CTNS gene in 32 cystinosis patients f rom Spain. (19863563)	MacA-as-Vidal J.... Coll M.J.	2009	CTNS
9	Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. (18455850)	Wilmer M.J.... Levtchenko E.N.	2008	LRP2, CTNS, CUBN
10	Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. (18178779)	Servais A.... Antignac C.	2008	CTNS
11	Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. (18186520)	Wamelink M.M.... Wevers R.A.	2008	SHPK
12	Growth hormone producing prolactinoma in juvenile cystinosis: a simple coincidence? (17638022)	Besouw M.T.... Noordam K.	2008	PRL, SST
13	Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay. (18752449)	Alcantara-Ortigoza M.A.... Gonzalez-del Angel A.	2008	CTNS
14	Non-verbal deficits in young children with a genetic metabolic disorder: WPPSI-III performance in cystinosis. (17471495)	Spilkin A.M.... Trauner D.A.	2007	CTNS
15	The ocular anomalies in a cystinosis animal model mimic disease pathogenesis. (17597652)	Kalatzis V.... Kremer E.J.	2007	CTNS
16	Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. (17709758)	Gahl W.A.... Kleta R.	2007	CTNS
17	Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. (16252107)	Levtchenko E.N.... Blom H.J.	2006	CTNS
18	A patient with cystinosis presenting transient features of Bartter syndrome. (17172073)	Yildiz B.... Yarar C.	2006	REN
19	Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. (17699259)	Ueda M.... Gahl W.A.	2006	CTNS
20	Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome. (15627171)	Laube G.F.... van't Hoff W.G.	2005	CTNS
21	Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. (15879904)	Sonies B.C.... Gahl W.A.	2005	CTNS
22	Cystinosis: diagnosis through the measurement of the leukocyte cystine content by HPLC (15225475)	Martinez Llamas M.S.... Pedrinaci S.	2004	CTNS
23	FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. (15365816)	Bendavid C.... Gahl W.A.	2004	CTNS
24	Pharmacological treatment of nephropathic cystinosis with cysteamine. (15500372)	Kleta R.... Gahl W.A.	2004	CTNS
25	From gene to disease: cystinosis (15042893)	Levtchenko E.N.... Monnens L.A.	2004	CTNS
26	Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. (15128704)	Kalatzis V.... Antignac C.	2004	CTNS, TMEM147
27	Early oral cysteamine therapy for nephropathic cystinosis. (14610675)	Gahl W.A.	2003	CTNS
28	The evaluation and treatment of gastrointestinal dise ase in children with cystinosis receiving cysteamine. (12970638)	Dohil R.... Schneider J.A.	2003	GAST
29	Cystinosis: from cystine crystals to the cystinosin (12708365)	Pintos G.	2003	CTNS
30	Cystinosis. (12110740)	Gahl W.A.... Schneider J.A.	2002	CTNS
31	Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. (12442267)	Kalatzis V.... Antignac C.	2002	CTNS
32	Cystinosis: from gene to disease. (12401840)	Kalatzis V.... Antignac C.	2002	CTNS
33	A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population. (11565547)	Rupar C.A.... Siu V.	2001	CTNS
34	Long-term treatment with growth hormone in short children with nephropathic cystinosis. (11391333)	WA1hl E.... Mehls O.	2001	GH1
35	Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany. (11562417)	Kalatzis V.... Antignac C.	2001	CTNS
36	The molecular basis of Dutch infantile nephropathic cystinosis. (11528232)	Heil S.G.... Blom H.J.	2001	CTNS
37	CTNS mutations in African American patients with cystinosis. (11708862)	Kleta R.... Gahl W.A.	2001	CTNS
38	Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. (11121245)	Cherqui S.... Antignac C.	2000	CTNS
39	Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. (10625078)	Anikster Y.... Gahl W.A.	2000	CTNS
40	Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. (11001803)	Gahl W.A.... Kaiser-Kupfer M.I.	2000	CTNS
41	The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. (10673275)	Touchman J.W.... Green E.D.	2000	CTNS, ITGAE, P2RX5
42	Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. (10417278)	Forestier L.... Antignac C.	1999	CTNS
43	CTNS mutations in patients with cystinosis. (10571941)	Anikster Y.... Gahl W.A.	1999	CTNS
44	Mutations of CTNS causing intermediate cystinosis. (10444339)	Thoene J.... Campbell H.T.	1999	CTNS
45	Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. (10556299)	Attard M.... Town M.	1999	CTNS
46	Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). (10068513)	Anikster Y.... Gahl W.A.	1999	CTNS
47	Slowly deteriorating insulin secretion and C-peptide production characterizes diabetes mellitus in infantile cystinosis. (9776533)	Filler G.... Ehrich J.H.	1998	INS
48	CTNS mutations in an American-based population of cystinosis patients. (9792862)	Shotelersuk V.... Gahl W.A.	1998	CTNS
49	Pituitary-testicular function in nephropathic cystinosis. (8363167)	Chik C.L.... Gahl W.A.	1993	CGA
50	Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. (7112129)	Gahl W.A.... Schulman J.D.	1982	CTNS

Genes related to cystinosis according to GeneCards:

(show all 30)

id	Symbol	Description	Score	GeneCards Section Context
1	CTNS	cystinosin, lysosomal cystine transporter	11.1	Summaries, Orthologs, Aliases & Descriptions, Publications
2	SHPK	sedoheptulokinase	11.1	Publications, Summaries
3	LRP2	low density lipoprotein receptor-related protein 2	11.0	Publications
4	TAX1BP3	Tax1 (human T-cell leukemia virus type I) binding protein 3	11.0	Publications
5	P2RX5	purinergic receptor P2X, ligand-gated ion channel, 5	11.0	Publications
6	TMEM147	transmembrane protein 147	11.0	Publications
7	ITGAE	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	11.0	Publications
8	CASP4	caspase 4, apoptosis-related cysteine peptidase	11.0	Publications
9	LCAT	lecithin-cholesterol acyltransferase	11.0
10	CUBN	cubilin (intrinsic factor-cobalamin receptor)	11.0	Publications
11	CGA	glycoprotein hormones, alpha polypeptide	11.0	Publications
12	GH1	growth hormone 1	11.0	Publications
13	OPLAH	5-oxoprolinase (ATP-hydrolysing)	11.0	Publications
14	UBIAD1	UbiA prenyltransferase domain containing 1	11.0
15	MPDU1	mannose-P-dolichol utilization defect 1	11.0
16	VNN2	vanin 2	11.0
17	DAZAP1	DAZ associated protein 1	11.0
18	GSS	glutathione synthetase	11.0	Publications
19	BECN1	beclin 1, autophagy related	11.0	Publications
20	VNN1	vanin 1	11.0
21	LAMP2	lysosomal-associated membrane protein 2	11.0
22	TRPV1	transient receptor potential cation channel, subfamily V, member 1	11.0	Publications
23	GTF3C1	general transcription factor IIIC, polypeptide 1, alpha 220kDa	11.0
24	GAST	gastrin	11.0	Publications
25	SST	somatostatin	11.0	Publications
26	REN	renin	11.0	Publications
27	PRL	prolactin	11.0	Publications
28	ACE	angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	11.0	Publications
29	ALB	albumin	11.0	Publications
30	INS	insulin	11.0	Publications

Pathways related to cystinosis according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Neuroactive ligand-receptor interaction20	9.1	P2RX5, CGA, GH1, TRPV1, PRL

Compounds related to cystinosis according to GeneDecks:

(show top 50)    (show all 102)

id	Compound	Score	Top Affiliating Genes
1	gnrh32	10.1	INS, GH1
2	propranolol32 34 9 18 9	14.1	GAST, REN
3	quinagolide32	9.8	PRL, GH1, SST
4	ghrp32	9.7	GH1, SST, PRL
5	cysteamine32 9 18 9	12.7	VNN1, SST, GAST, GH1
6	hexarelin32	9.6	GH1, SST, PRL
7	pyridostigmine32 9 9	11.6	GH1, PRL, SST
8	11 deoxycortisol32	9.6	REN, CGA, PRL
9	intralipid32	9.6	GH1, LCAT, SST, INS
10	5-hydroxytryptophan32	9.6	SST, GH1, PRL
11	cabergoline32 9 9	11.6	PRL, SST, GH1, CGA
12	lanreotide32	9.6	GH1, SST, PRL
13	metoclopramide32 9 9	11.6	REN, CGA, PRL, GH1
14	naloxone32 34 9 9	12.5	SST, PRL, GH1, CGA
15	bromocriptine32 9 9	11.5	SST, CGA, GH1, PRL
16	acipimox32	9.5	SST, INS, GH1
17	clomiphene citrate32	9.5	INS, GH1, PRL, CGA
18	leuprolide acetate32	9.5	CGA, GH1, PRL
19	dehydroepiandrosterone sulfate32	9.4	CGA, INS, GH1, PRL
20	buserelin32 9 9	11.4	SST, CGA, PRL
21	domperidone32 9 9	11.2	GAST, PRL, SST
22	moxonidine32	9.2	REN, ACE, INS
23	dopamine32 9 18 9	12.2	SST, TRPV1, GH1, CGA, REN
24	olmesartan32 9 9	11.2	ACE, INS, REN
25	creatinine32	9.2	REN, ACE, CGA, OPLAH, GH1
26	pirenzepine32 9 9	11.2	GH1, SST, GAST
27	terlipressin32 9 9	11.2	REN, ALB, SST
28	clonidine32 9 9	11.2	CGA, PRL, SST, REN, GH1
29	testosterone32 9 18 9	12.1	CGA, SST, GAST, PRL, LCAT
30	metformin32 34 9 9	12.1	CGA, ACE, GH1, INS
31	vitamin b1232	9.1	ALB, CUBN, LRP2, GAST
32	androstenedione32 18	10.0	GH1, PRL, INS, REN, CGA
33	indapamide32 9 9	11.0	ACE, REN, ALB
34	fosinopril32 9 9	10.9	REN, ALB, ACE
35	octreotide32 42 9 9	11.9	INS, GH1, PRL, GAST, SST
36	vitamin d32	8.9	CUBN, GH1, ALB, CGA, GAST, LRP2
37	lisinopril32 9 18 9	11.8	ALB, REN, ACE
38	nifedipine32 9 9	10.8	REN, GH1, SST, ACE, GAST
39	folate32	8.8	ALB, LRP2, CGA, CUBN, GAST
40	calcitriol32 42 9 18 9	12.7	ALB, REN, LRP2, GAST, CUBN, GH1
41	captopril32 42 9 9	11.5	REN, ACE, ALB, SST
42	ramipril32 9 9	10.5	REN, INS, ACE, ALB
43	telmisartan32 9 9	10.5	ALB, ACE, REN, INS
44	hydrocortisone32 9 9	10.4	GH1, GAST, PRL, INS, REN, SST
45	acth32	8.4	SST, GAST, INS, GH1, REN, PRL
46	epinephrine32 9 18 9	11.2	GH1, GAST, PRL, SST, CGA, INS
47	norepinephrine32 9 18 9	10.6	ACE, PRL, GAST, SST, GH1, INS
48	cholesterol32 9 18 9	10.4	LRP2, INS, REN, ACE, BECN1, LCAT
49	thyroxine32 18	8.3	CGA, LRP2, REN, INS, ALB, GH1
50	lipid32	7.2	LRP2, GH1, ALB, ACE, CUBN, TRPV1

Cellular components related to cystinosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:005615	7.1	LRP2, REN, LCAT, INS, ALB, GH1

Biological processes related to cystinosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	hemoglobin import	GO:020028	10.1	LRP2, CUBN
2	lipid metabolic process	GO:006629	9.2	LRP2, LCAT, ALB, CUBN
3	lipoprotein metabolic process	GO:042157	9.0	LCAT, ALB, CUBN

Molecular functions related to cystinosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	hemoglobin binding	GO:030492	10.2	LRP2, CUBN
2	pantetheine hydrolase activity	GO:017159	9.9	VNN1, VNN2
3	prolactin receptor binding	GO:005148	9.5	PRL, GH1
4	hormone activity	GO:005179	8.3	CGA, INS, GH1, SST, PRL, GAST