Cystinuria type B

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 21
OrphanetNr: 93613
OMIM Id: 220100
ICD-10: E72.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Cystinuria
 -Rare genetic disease
 -Rare renal disease

Comment:

Cystinuria type B (about 53% of the cytinuria cases), is an inherited disorder caused by mutations in SLC7A9 encoding the light subunit of the amino acid transporter responsible for the transport of cysteine and the dibasic amino acids ornithine, lysine and arginine (COLA). This leads to an impairment of their reabsorption in the renal proximal tubule and the small intestine (PMID:24246330). Cystinuria belongs to the class of disorders of amino acid absorption and transport.

Symptom Information: Sort by abundance 

1
(HPO:0002027) Abdominal pain 24246330 IBIS 184 / 7739
2
(HPO:0002018) Nausea 24246330 IBIS 44 / 7739
3
(HPO:0002150) Hypercalciuria 24246330 IBIS 45 / 7739
4
(HPO:0003297) Hyperlysinuria Very frequent [IBIS] 24246330 IBIS 10 / 7739
5
(HPO:0003268) Argininuria Very frequent [IBIS] 24246330 IBIS 5 / 7739
6
(HPO:0003168) Dibasicaminoaciduria Very frequent [IBIS] 24246330 IBIS 5 / 7739
7
(HPO:0003532) Ornithinuria Very frequent [IBIS] 24246330 IBIS 5 / 7739
8
(HPO:0003131) Cystinuria Very frequent [IBIS] 24246330 IBIS 6 / 7739
9
(HPO:0000010) Recurrent urinary tract infections 24246330 IBIS 56 / 7739
10
(HPO:0001252) Muscular hypotonia 26929440 IBIS 990 / 7739
11
(HPO:0002070) Limb ataxia 26929440 IBIS 41 / 7739
12
(HPO:0002078) Truncal ataxia 26929440 IBIS 41 / 7739
13
(HPO:0001350) Slurred speech 26929440 IBIS 16 / 7739
14
(HPO:0002354) Memory impairment 26929440 IBIS 63 / 7739
15
(HPO:0000787) Nephrolithiasis Very frequent [IBIS] 24246330 IBIS 78 / 7739
16
(HPO:0000790) Hematuria 23537763 IBIS 106 / 7739
17
(HPO:0000083) Renal insufficiency 24246330 IBIS 232 / 7739
18
(HPO:0001272) Cerebellar atrophy 26929440 IBIS 197 / 7739
19
(HPO:0002059) Cerebral atrophy 26929440 IBIS 171 / 7739
20
(HPO:0030157) Flank pain 24246330 IBIS 5 / 7739
21
(OMIM) Increase urinary excretion of lysine, arginine, and ornithine 25599739 IBIS 3 / 7739

Associated genes:

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).