CTNSJAN
MCID: CYS046
MIFTS: 30

Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type (CTNSJAN)

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

Aliases & Classifications for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

MalaCards integrated aliases for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type:

Name: Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 56 73
Juvenile Nephropathic Cystinosis 58 29 6 17 71
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic 56 13 39
Cystinosis, Intermediate 56 54
Intermediate Cystinosis 58
Cystinosis Intermediate 73
Juvenile Cystinosis 58
Ctnsjan 73

Characteristics:

Orphanet epidemiological data:

58
juvenile nephropathic cystinosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms usually between 12-15 years
three type of cystinosis are recognized - infantile nephropathic , juvenile or adolescent nephropathic , and adult nonnephropathic


HPO:

31
cystinosis, late-onset juvenile or adolescent nephropathic type:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

OMIM 56 219900
MeSH 43 D003554
ICD10 via Orphanet 33 E72.0+ N16.3*
UMLS via Orphanet 72 C0268626
Orphanet 58 ORPHA411634
MedGen 41 C0268626
UMLS 71 C0268626

Summaries for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

UniProtKB/Swiss-Prot : 73 Cystinosis, late-onset juvenile or adolescent 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. Late-onset juvenile or adolescent nephropathic cystinosis is an intermediated form, manifesting first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features.

MalaCards based summary : Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type, also known as juvenile nephropathic cystinosis, is related to cystinosis and cystinosis, adult nonnephropathic. An important gene associated with Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type is CTNS (Cystinosin, Lysosomal Cystine Transporter). Affiliated tissues include kidney and pituitary, and related phenotypes are proteinuria and retinopathy

More information from OMIM: 219900

Related Diseases for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

Diseases related to Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 cystinosis 11.9
2 cystinosis, adult nonnephropathic 11.4
3 cystinosis, nephropathic 11.4
4 varicose veins 10.2
5 portal hypertension 10.2
6 splenomegaly 10.2
7 corneal disease 9.9
8 fanconi syndrome 9.9
9 alport syndrome 9.9
10 pituitary adenoma, prolactin-secreting 9.9
11 infant gynecomastia 9.9
12 gynecomastia 9.9
13 end stage renal failure 9.9
14 headache 9.9

Graphical network of the top 20 diseases related to Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type:



Diseases related to Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

Symptoms & Phenotypes for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

Human phenotypes related to Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 retinopathy 31 HP:0000488
3 rickets 31 HP:0002748
4 retinal pigment epithelial mottling 31 HP:0007814
5 stage 5 chronic kidney disease 31 HP:0003774
6 corneal crystals 31 HP:0000531
7 growth abnormality 31 HP:0001507
8 elevated intracellular cystine 31 HP:0003358

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
proteinuria
elevated white blood cell cystine

Skeletal:
rickets

Genitourinary Kidneys:
end stage renal disease

Head And Neck Eyes:
retinopathy
corneal crystals

Growth Height:
normal stature

Clinical features from OMIM:

219900

Drugs & Therapeutics for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

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, Late-Onset Juvenile or Adolescent Nephropathic Type

Genetic Tests for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

Genetic tests related to Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type:

# Genetic test Affiliating Genes
1 Juvenile Nephropathic Cystinosis 29 CTNS

Anatomical Context for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

MalaCards organs/tissues related to Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type:

40
Kidney, Pituitary

Publications for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

Articles related to Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type:

(show all 19)
# Title Authors PMID Year
1
Mutations of CTNS causing intermediate cystinosis. 54 56 6
10444339 1999
2
Analysis of the CTNS gene in 32 cystinosis patients from Spain. 56 6
19863563 2009
3
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 56 6
10556299 1999
4
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion. 6
27734949 2016
5
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. 6
18186520 2008
6
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. 6
15365816 2004
7
Cystinosis. 6
12110740 2002
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
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 6
10625078 2000
11
CTNS mutations in an American-based population of cystinosis patients. 6
9792862 1998
12
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 6
9537412 1998
13
Renal failure in a sibship with late-onset cystinosis. 56
4056976 1985
14
Polykaryocytosis of the visceral glomerular epithelium in cystinosis with description of an unusual clinical variant. 56
5567604 1971
15
Adolescent cystinosis: comparisons with infantile and adult forms. 56
5141767 1971
16
Nephropathic cystinosis presenting with uveitis: Report of a "Can't See, Can't Pee" situation. 61
31361240 2019
17
Unrecognized juvenile nephropathic cystinosis. 61
30348293 2018
18
Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature. 61
15669688 2004
19
CTNS mutations in patients with cystinosis. 54
10571941 1999

Variations for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

ClinVar genetic disease variations for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type:

6 (show all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 CTNS, IVS7AS, C-G, -10SNV Pathogenic 4448
5 CTNS NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)SNV Pathogenic 4456 rs121908128 17:3563268-3563268 17:3659974-3659974
6 CTNS NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)SNV Pathogenic 267310 rs746307931 17:3563221-3563221 17:3659927-3659927
7 CTNS NM_004937.3(CTNS):c.646dup (p.Thr216fs)duplication Pathogenic 371084 rs893207601 17:3560053-3560054 17:3656759-3656760
8 CTNS NC_000017.10:g.(?_3539712)_(3561489_?)deldeletion Pathogenic 455786 17:3539712-3561489 17:3636418-3658195
9 CTNS NM_004937.3(CTNS):c.206_210del (p.Ile69fs)deletion Pathogenic 455787 rs879758262 17:3552206-3552210 17:3648912-3648916
10 CTNS NM_004937.3(CTNS):c.771_793del (p.Gly258fs)deletion Pathogenic 496276 rs759623796 17:3561376-3561398 17:3658082-3658104
11 CTNS NM_004937.3(CTNS):c.751_754delinsCG (p.Thr251fs)indel Pathogenic 526031 rs1555564051 17:3561368-3561371 17:3658074-3658077
12 CTNS NC_000017.10:g.(?_3539712)_(3560109_?)deldeletion Pathogenic 526033 17:3539712-3560109 17:3636418-3656815
13 CTNS NC_000017.10:g.(?_3550738)_(3561469_?)deldeletion Pathogenic 584155 17:3550738-3561469 17:3647444-3658175
14 CTNS NC_000017.10:g.(?_3550728)_(3552235_?)deldeletion Pathogenic 658450 17:3550728-3552235 17:3647434-3648941
15 CTNS NM_004937.3(CTNS):c.140+1G>TSNV Pathogenic 666181 17:3550817-3550817 17:3647523-3647523
16 CTNS NC_000017.10:g.(?_3550718)_(3552245_?)deldeletion Pathogenic 665648 17:3550718-3552245 17:3647424-3648951
17 CTNS NC_000017.10:g.(?_3561289)_(3564038_?)deldeletion Pathogenic 645871 17:3561289-3564038 17:3657995-3660744
18 CTNS NM_004937.3(CTNS):c.682-1G>TSNV Pathogenic 664004 17:3561298-3561298 17:3658004-3658004
19 CTNS NC_000017.10:g.(?_3539712)_(3561479_?)deldeletion Pathogenic 652375 17:3539712-3561479 17:3636418-3658185
20 CTNS NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)SNV Pathogenic 654346 17:3558614-3558614 17:3655320-3655320
21 CTNS NM_004937.3(CTNS):c.559_561+24deldeletion Pathogenic/Likely pathogenic 21442 rs113994211 17:3559867-3559893 17:3656573-3656599
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.589G>A (p.Gly197Arg)SNV Pathogenic/Likely pathogenic 4451 rs113994207 17:3559997-3559997 17:3656703-3656703
25 CTNS NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)SNV Likely pathogenic 4458 rs267606754 17:3558601-3558601 17:3655307-3655307
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.833T>C (p.Leu278Pro)SNV Uncertain significance 648616 17:3561450-3561450 17:3658156-3658156
30 CTNS NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)SNV Uncertain significance 322844 rs140326392 17:3563269-3563269 17:3659975-3659975
31 CTNS NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)SNV Uncertain significance 574468 rs560868487 17:3563641-3563641 17:3660347-3660347
32 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, Late-Onset Juvenile or Adolescent Nephropathic Type:

73
# Symbol AA change Variation ID SNP ID
1 CTNS p.Lys280Arg VAR_010287
2 CTNS p.Asn323Lys VAR_010288 rs121908128
3 CTNS p.Asn177Thr VAR_037319
4 CTNS p.Pro200Leu VAR_037320

Expression for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

Search GEO for disease gene expression data for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type.

Pathways for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

GO Terms for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

Sources for Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

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