Cystinuria

General Information (adopted from Orphanet):

Synonyms, Signs: CSNU
Cystinuria-lysinuria syndrome
Cytinuria type I
Cystinuria non-type I
Cystinuria mixed type
Cystinuria type 1/non-type 1
Number of Symptoms 32
OrphanetNr: 214
OMIM Id: 220100
ICD-10: E72.0
UMLs: C0010691
C0268646
MeSH: D003555
MedDRA: 10011778
Snomed: 25646005
85020001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Autosomal dominant
26837681 [IBIS]
Age of onset: All ages
25964309 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of amino acid absorption and transport
 -Rare genetic disease
Genetic renal tubular disease
 -Rare genetic disease
Rare renal tubular disease
 -Rare renal disease

Comment:

Cystinuria is characterized by the formation of cystine calculi in the kidneys, ureters, and bladder (PMID:26837681). Classification of cystinuria was originally based on the excretion of cysteine and dibasic aminoaciduria into type I (autosomal recessive), non-type I (autosomal dominant with incomplete penetrance), and mixed type (also known as type 1/non-type 1). The new classification is based on genetic data, type A (mutation in SLC3A1), type B (mutation in SLC7A9), and type AB (mutation in both genes) (PMID: 26837681). Both genes code for subunits of the renal amino acid transporter responsible for the transport of cysteine and the dibasic amino acids ornithine, lysine and arginine (COLA) (PMID:24246330). Worldwide incidence of Cystinuria is 1 per 7000 births, ranging from 1 per 2500 among Libyan Jewish population to 1 per 100 000 persons in Sweden (PMID:25599739).

Symptom Information: Sort by abundance 

1
(HPO:0002027) Abdominal pain 24246330 IBIS 184 / 7739
2
(HPO:0011848) Abdominal colic Frequent [IBIS] 61% (n=442) 25717071 IBIS 8 / 7739
3
(HPO:0002017) Nausea and vomiting Occasional [IBIS] 26% (n=23) 22854136 IBIS 134 / 7739
4
(HPO:0004337) Abnormality of amino acid metabolism Very frequent [IBIS] Very frequent [Orphanet] 24246330 IBIS 45 / 7739
5
(HPO:0003297) Hyperlysinuria Very frequent [IBIS] 24246330 IBIS 10 / 7739
6
(HPO:0003268) Argininuria Very frequent [IBIS] 24246330 IBIS 5 / 7739
7
(HPO:0003355) Aminoaciduria Very frequent [IBIS] Very frequent [Orphanet] 24246330 IBIS 65 / 7739
8
(HPO:0003168) Dibasicaminoaciduria 24246330 IBIS 5 / 7739
9
(HPO:0003532) Ornithinuria Very frequent [IBIS] 24246330 IBIS 5 / 7739
10
(HPO:0003131) Cystinuria Very frequent [IBIS] 100% (n=442) 25717071 IBIS 6 / 7739
11
(HPO:0000822) Hypertension Occasional [IBIS] 29% (n=442) 25717071 IBIS 224 / 7739
12
(HPO:0000010) Recurrent urinary tract infections Frequent [IBIS] 26929440 IBIS 56 / 7739
13
(HPO:0002149) Hyperuricemia Frequent [Orphanet] 22854136 IBIS 37 / 7739
14
(HPO:0001252) Muscular hypotonia 26929440 IBIS 990 / 7739
15
(HPO:0001251) Ataxia 26929440 IBIS 413 / 7739
16
(HPO:0002070) Limb ataxia 1681667 IBIS 41 / 7739
17
(HPO:0002078) Truncal ataxia 26929440 IBIS 41 / 7739
18
(HPO:0001350) Slurred speech 26929440 IBIS 16 / 7739
19
(HPO:0002071) Abnormality of extrapyramidal motor function 26929440 IBIS 76 / 7739
20
(HPO:0007256) Abnormal pyramidal signs 26929440 IBIS 116 / 7739
21
(HPO:0001260) Dysarthria 1681667 IBIS 329 / 7739
22
(HPO:0001249) Intellectual disability 26929440 IBIS 1089 / 7739
23
(HPO:0002354) Memory impairment 26929440 IBIS 63 / 7739
24
(HPO:0001945) Fever Occasional [IBIS] 22% (n=23) 22854136 IBIS 218 / 7739
25
(HPO:0001081) Cholelithiasis Rare [IBIS] 2% (n=442) 25717071 IBIS 36 / 7739
26
(HPO:0000787) Nephrolithiasis Very frequent [IBIS] Very frequent [Orphanet] 100% (n=76) 25964309 IBIS 78 / 7739
27
(HPO:0012211) Abnormal renal physiology 26929440 IBIS 23 / 7739
28
(HPO:0000790) Hematuria Frequent [IBIS] Very frequent [Orphanet] 22854136 IBIS 106 / 7739
29
(HPO:0000083) Renal insufficiency Frequent [Orphanet] 15602663 IBIS 232 / 7739
30
(HPO:0012622) Chronic kidney disease Frequent [IBIS] 70% (n=76) 25964309 IBIS 32 / 7739
31
(HPO:0001272) Cerebellar atrophy 26929440 IBIS 197 / 7739
32
(HPO:0002059) Cerebral atrophy 26929440 IBIS 171 / 7739

Associated genes:

SLC3A1; SLC7A9;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low ...
Clinical Description OMIM Wollaston (1810) first described a cystine stone. He found that a glistening yellow bladder stone was composed of an unusual substance, which he called cystic oxide since it came from the bladder. Later analysis showed this to be ...
Molecular genetics OMIM Calonge et al. (1994) sought mutations in the SLC3A1 gene because of its plausible candidacy as the site of the defect in cystinuria. In affected individuals from 8 different families, they identified 6 missense mutations in the SLC3A1 ...
Population genetics OMIM The overall prevalence of cystinuria is approximately 1 in 7,000 neonates, ranging from 1 in 2,500 neonates in Libyan Jews to 1 in 100,000 among Swedes (review by Barbosa et al., 2012).