CTNSANN
MCID: CYS045
MIFTS: 30

Cystinosis, Adult Nonnephropathic (CTNSANN)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Cystinosis, Adult Nonnephropathic

MalaCards integrated aliases for Cystinosis, Adult Nonnephropathic:

Name: Cystinosis, Adult Nonnephropathic 56
Cystinosis, Ocular Nonnephropathic 56 52 29 13 6 39
Cystinosis, Benign, Nonnephropathic 52 71
Cystinosis, Adult, Non-Nephropathic Type 73
Cystinosis, Benign Nonnephropathic 56
Cystinosis, Adult, Nonnephropathic 52
Ocular Nonnephropathic Cystinosis 52
Cystinosis Benign Nonnephropathic 73
Cystinosis Ocular Nonnephropathic 73
Cystinosis Adult Nonnephropathic 73
Non-Nephropathic Cystinosis 58
Adult-Onset Cystinosis 58
Ocular Cystinosis 58
Ctnsann 73

Characteristics:

Orphanet epidemiological data:

58
ocular cystinosis
Inheritance: Autosomal recessive; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
three types of cystinosis are recognized
(1) infantile nephropathic
(2) juvenile or adolescent nephropathic
(3) adult nonnephropathic


HPO:

31
cystinosis, adult nonnephropathic:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


External Ids:

OMIM 56 219750
MeSH 43 D003554
ICD10 via Orphanet 33 E72.0
UMLS via Orphanet 72 C2931013
Orphanet 58 ORPHA411641
SNOMED-CT via HPO 68 246622003 258211005 409668002
UMLS 71 C2931013

Summaries for Cystinosis, Adult Nonnephropathic

NIH Rare Diseases : 52 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.

MalaCards based summary : Cystinosis, Adult Nonnephropathic, also known as cystinosis, ocular nonnephropathic, is related to cystinosis, nephropathic and cystinosis, late-onset juvenile or adolescent nephropathic type. An important gene associated with Cystinosis, Adult Nonnephropathic is CTNS (Cystinosin, Lysosomal Cystine Transporter). Affiliated tissues include eye and kidney, and related phenotypes are photophobia and corneal crystals

OMIM : 56 Ocular nonnephropathic cystinosis, a variant of the classic nephropathic type of cystinosis (219800), is an autosomal recessive lysosomal storage disorder characterized by photophobia due to corneal cystine crystals but absence of renal disease (summary by Anikster et al., 2000). (219750)

UniProtKB/Swiss-Prot : 73 Cystinosis, adult, non-nephropathic type: A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benign course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals.

Related Diseases for Cystinosis, Adult Nonnephropathic

Diseases related to Cystinosis, Adult Nonnephropathic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cystinosis, nephropathic 10.4
2 cystinosis, late-onset juvenile or adolescent nephropathic type 10.4
3 cystinosis 10.4
4 myeloma, multiple 9.9
5 astigmatism 9.9
6 intraocular pressure quantitative trait locus 9.9
7 autosomal recessive disease 9.9
8 microphthalmia 9.9
9 irregular astigmatism 9.9
10 keratopathy 9.9
11 fundus dystrophy 9.9
12 inherited retinal disorder 9.9

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



Diseases related to Cystinosis, Adult Nonnephropathic

Symptoms & Phenotypes for Cystinosis, Adult Nonnephropathic

Human phenotypes related to Cystinosis, Adult Nonnephropathic:

31
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 corneal crystals 31 HP:0000531

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
corneal crystals
conjunctival crystals
mild photophobia
no retinopathy

Genitourinary Kidneys:
no renal disease

Clinical features from OMIM:

219750

Drugs & Therapeutics for Cystinosis, Adult Nonnephropathic

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02837523

Search NIH Clinical Center for Cystinosis, Adult Nonnephropathic

Genetic Tests for Cystinosis, Adult Nonnephropathic

Genetic tests related to Cystinosis, Adult Nonnephropathic:

# Genetic test Affiliating Genes
1 Cystinosis, Ocular Nonnephropathic 29 CTNS

Anatomical Context for Cystinosis, Adult Nonnephropathic

MalaCards organs/tissues related to Cystinosis, Adult Nonnephropathic:

40
Eye, Kidney

Publications for Cystinosis, Adult Nonnephropathic

Articles related to Cystinosis, Adult Nonnephropathic:

(show all 20)
# Title Authors PMID Year
1
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 61 56 6
10625078 2000
2
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion. 6
27734949 2016
3
Analysis of the CTNS gene in 32 cystinosis patients from Spain. 6
19863563 2009
4
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. 6
18186520 2008
5
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. 6
15365816 2004
6
Cystinosis. 6
12110740 2002
7
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. 6
11505338 2001
8
Cystinosis 6
20301574 2001
9
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. 6
10673275 2000
10
CTNS mutations in an American-based population of cystinosis patients. 6
9792862 1998
11
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 6
9537412 1998
12
Benign cystinosis. The clinical, biochemical and morphologic findings in a family with two affected siblings. 56
5477639 1970
13
Biochemical comparisons of the adult and childhood forms of cystinosis. 56
4880015 1968
14
Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis. 56
6038997 1967
15
Adult cystinosis--a benign disorder. 56
5326434 1966
16
[Corneal changes in a case of multiple myeloma (plasmocytoma)]. 56
13553265 1958
17
[Unusual case of crystalline degeneration of the cornea]. 56
14394617 1955
18
[Cystinosis: diagnosis through the measurement of the leukocyte cystine content by HPLC]. 61
15225475 2004
19
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 61
12442267 2002
20
Pulmonary dysfunction in adults with nephropathic cystinosis. 61
11171714 2001

Variations for Cystinosis, Adult Nonnephropathic

ClinVar genetic disease variations for Cystinosis, Adult Nonnephropathic:

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTNS NM_004937.3(CTNS):c.18_21del (p.Thr7fs)deletion Pathogenic 188834 rs786204501 17:3543516-3543519 17:3640222-3640225
2 CTNS NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)SNV Pathogenic 4443 rs113994205 17:3558599-3558599 17:3655305-3655305
3 CTNS nsv1067862deletion Pathogenic 4445 17:3504228-3561459 17:3600934-3658165
4 CTNS NM_004937.3(CTNS):c.853-3C>GSNV Pathogenic 4449 rs113994210 17:3563149-3563149 17:3659855-3659855
5 CTNS CTNS, -303G-T, PROMOTERSNV Pathogenic 4453
6 CTNS CTNS, 1-BP INS, -303T, PROMOTERinsertion Pathogenic 4454
7 CTNS NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)SNV Pathogenic 267310 rs746307931 17:3563221-3563221 17:3659927-3659927
8 CTNS NM_004937.3(CTNS):c.646dup (p.Thr216fs)duplication Pathogenic 371084 rs893207601 17:3560053-3560054 17:3656759-3656760
9 CTNS NC_000017.10:g.(?_3539712)_(3561489_?)deldeletion Pathogenic 455786 17:3539712-3561489 17:3636418-3658195
10 CTNS NM_004937.3(CTNS):c.206_210del (p.Ile69fs)deletion Pathogenic 455787 rs879758262 17:3552206-3552210 17:3648912-3648916
11 CTNS NM_004937.3(CTNS):c.771_793del (p.Gly258fs)deletion Pathogenic 496276 rs759623796 17:3561376-3561398 17:3658082-3658104
12 CTNS NM_004937.3(CTNS):c.751_754delinsCG (p.Thr251fs)indel Pathogenic 526031 rs1555564051 17:3561368-3561371 17:3658074-3658077
13 CTNS NC_000017.10:g.(?_3539712)_(3560109_?)deldeletion Pathogenic 526033 17:3539712-3560109 17:3636418-3656815
14 CTNS NC_000017.10:g.(?_3550738)_(3561469_?)deldeletion Pathogenic 584155 17:3550738-3561469 17:3647444-3658175
15 CTNS NC_000017.10:g.(?_3550728)_(3552235_?)deldeletion Pathogenic 658450 17:3550728-3552235 17:3647434-3648941
16 CTNS NM_004937.3(CTNS):c.140+1G>TSNV Pathogenic 666181 17:3550817-3550817 17:3647523-3647523
17 CTNS NC_000017.10:g.(?_3550718)_(3552245_?)deldeletion Pathogenic 665648 17:3550718-3552245 17:3647424-3648951
18 CTNS NC_000017.10:g.(?_3561289)_(3564038_?)deldeletion Pathogenic 645871 17:3561289-3564038 17:3657995-3660744
19 CTNS NM_004937.3(CTNS):c.682-1G>TSNV Pathogenic 664004 17:3561298-3561298 17:3658004-3658004
20 CTNS NC_000017.10:g.(?_3539712)_(3561479_?)deldeletion Pathogenic 652375 17:3539712-3561479 17:3636418-3658185
21 CTNS NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)SNV Pathogenic 654346 17:3558614-3558614 17:3655320-3655320
22 CTNS NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)SNV Pathogenic/Likely pathogenic 651886 rs1436441738 17:3558607-3558607 17:3655313-3655313
23 CTNS NM_004937.3(CTNS):c.971-12G>ASNV Pathogenic/Likely pathogenic 526030 rs375952052 17:3563518-3563518 17:3660224-3660224
24 CTNS NM_004937.3(CTNS):c.559_561+24deldeletion Pathogenic/Likely pathogenic 21442 rs113994211 17:3559867-3559893 17:3656573-3656599
25 CTNS NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)SNV Pathogenic/Likely pathogenic 4451 rs113994207 17:3559997-3559997 17:3656703-3656703
26 CTNS NM_004937.3(CTNS):c.62-1G>ASNV Likely pathogenic 651911 17:3550737-3550737 17:3647443-3647443
27 CTNS NM_004937.3(CTNS):c.587dup (p.Asn196fs)duplication Likely pathogenic 804480 17:3559993-3559994 17:3656699-3656700
28 CTNS NM_004937.3(CTNS):c.691C>T (p.Gln231Ter)SNV Likely pathogenic 804418 17:3561308-3561308 17:3658014-3658014
29 CTNS NM_004937.3(CTNS):c.329+2T>CSNV Conflicting interpretations of pathogenicity 371171 rs955833453 17:3558397-3558397 17:3655103-3655103
30 CTNS NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)SNV Uncertain significance 648616 17:3561450-3561450 17:3658156-3658156
31 CTNS NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)SNV Uncertain significance 322844 rs140326392 17:3563269-3563269 17:3659975-3659975
32 CTNS NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)SNV Uncertain significance 574468 rs560868487 17:3563641-3563641 17:3660347-3660347
33 CTNS NM_004937.3(CTNS):c.141-4A>CSNV Likely benign 526032 rs1437667230 17:3552137-3552137 17:3648843-3648843

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

73
# Symbol AA change Variation ID SNP ID
1 CTNS p.Gly197Arg VAR_010682 rs113994207

Expression for Cystinosis, Adult Nonnephropathic

Search GEO for disease gene expression data for Cystinosis, Adult Nonnephropathic.

Pathways for Cystinosis, Adult Nonnephropathic

GO Terms for Cystinosis, Adult Nonnephropathic

Sources for Cystinosis, Adult Nonnephropathic

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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