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	gitelman syndrome

Disease ID	222
Disease	gitelman syndrome
Definition	An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Synonym	familial hypokalaemia-hypomagnesaemia familial hypokalemia hypomagnesemia familial hypokalemia-hypomagnesemia familial hypokalemia-hypomagnesemia (disorder) gitelman syndrome (disorder) gitelman syndrome [disease/finding] gitelman's syndrome gitelmans syndrome gitelmans syndromes gtlmns hypokalemia-hypomagnesemia, familial hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria potassium and magnesium depletion primary renotubular, hypokalemia-hypomagnesemia with hypocalciuria primary renotubular, hypomagnesemia-hypokalemia with hypocalciuria syndrome, gitelman syndrome, gitelman's tubular hypomagnesemia hypokalemia with hypocalcuria tubular hypomagnesemia-hypokalemia with hypocalcuria
Orphanet	ORPHANET:358
OMIM	OMIM:263800
DOID	DOID:0050450
UMLS	C0268450
MeSH	D053579
SNOMED-CT	SNOMEDCT_US_2016_09_01:707756004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:18) C0553730 \| chondrocalcinosis \| 2 C1527336 \| sjogren's syndrome \| 1 C0020538 \| hypertension \| 1 C0017668 \| focal segmental glomerulosclerosis \| 1 C0004775 \| hypokalemic alkalosis \| 1 C1565489 \| renal insufficiency \| 1 C1527336 \| sjogren syndrome \| 1 C0013338 \| growth hormone deficiency \| 1 C0011880 \| diabetic ketoacidosis \| 1 C0027726 \| nephrotic syndrome \| 1 C0020428 \| hyperaldosteronism \| 1 C0178664 \| glomerulosclerosis \| 1 C1389280 \| basal ganglia calcification \| 1 C0025362 \| mental retardation \| 1 C0004775 \| bartter's syndrome \| 1 C0033845 \| idiopathic intracranial hypertension \| 1 C0022658 \| nephropathy \| 1 C0151740 \| intracranial hypertension \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1188 \| CLCNKB \| GHR;ORPHANET;UNIPROT 6559 \| SLC12A3 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 6559 \| SLC12A3 \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:26) 10159 \| ATP6AP2 \| 1.494 \| DISEASES 7809 \| BSND \| 3.864 \| DISEASES 846 \| CASR \| 1.947 \| DISEASES 875 \| CBS \| 2.499 \| DISEASES 1188 \| CLCNKB \| 6.357 \| DISEASES 51428 \| DDX41 \| 1.087 \| DISEASES 2950 \| GSTP1 \| 1.185 \| DISEASES 3758 \| KCNJ1 \| 5.326 \| DISEASES 3766 \| KCNJ10 \| 1.592 \| DISEASES 3778 \| KCNMA1 \| 1.172 \| DISEASES 10656 \| KHDRBS3 \| 1.926 \| DISEASES 8972 \| MGAM \| 2.52 \| DISEASES 146183 \| OTOA \| 3.085 \| DISEASES 5420 \| PODXL \| 1.427 \| DISEASES 6446 \| SGK1 \| 1.189 \| DISEASES 6557 \| SLC12A1 \| 5.527 \| DISEASES 6559 \| SLC12A3 \| 7.694 \| DISEASES 57468 \| SLC12A5 \| 1.711 \| DISEASES 9990 \| SLC12A6 \| 2.356 \| DISEASES 84561 \| SLC12A8 \| 3.584 \| DISEASES 8428 \| STK24 \| 3.963 \| DISEASES 27347 \| STK39 \| 4.706 \| DISEASES 11346 \| SYNPO \| 1.462 \| DISEASES 29110 \| TBK1 \| 1.418 \| DISEASES 140803 \| TRPM6 \| 3.489 \| DISEASES 55503 \| TRPV6 \| 1.634 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) SLC12A3 \| 16q13 CLCNKB \| 1p36.13

Disease ID	222
Disease	gitelman syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:30) HP:0002900 \| Hypokalemia \| 4 HP:0002901 \| Hypocalcemia \| 3 HP:0001948 \| Alkalosis \| 3 HP:0001510 \| Growth deficiency \| 2 HP:0002917 \| Low blood magnesium levels \| 2 HP:0000934 \| Chondrocalcinosis \| 2 HP:0011741 \| Secondary hyperaldosteronism \| 2 HP:0001263 \| Developmental retardation \| 1 HP:0200114 \| Metabolic alkalosis \| 1 HP:0000127 \| Salt wasting \| 1 HP:0002013 \| Emesis \| 1 HP:0000824 \| Growth hormone deficiency \| 1 HP:0001949 \| Hypokalemic alkalosis \| 1 HP:0000112 \| Nephropathy \| 1 HP:0001249 \| Mental retardation \| 1 HP:0002135 \| Basal ganglia calcification \| 1 HP:0003401 \| Paresthesia \| 1 HP:0003470 \| Inability to move \| 1 HP:0001270 \| Motor retardation \| 1 HP:0000097 \| focal glomerulosclerosis \| 1 HP:0002615 \| Low blood pressure \| 1 HP:0000100 \| Nephrosis \| 1 HP:0001993 \| Ketoacidosis \| 1 HP:0000859 \| Mineralocorticoid excess \| 1 HP:0012378 \| Fatigue \| 1 HP:0000822 \| Hypertension \| 1 HP:0001953 \| Diabetic ketosis \| 1 HP:0003127 \| Low urine calcium levels \| 1 HP:0002516 \| Intracranial pressure elevation \| 1 HP:0000096 \| Glomerulosclerosis \| 1

Disease ID	222
Disease	gitelman syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0553730 \| chondrocalcinosis C0032617 \| polyuria C0020599 \| hypocalciuria
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0151723 \| hypomagnesemia \| 2 C0553730 \| chondrocalcinosis \| 2 C0020599 \| hypocalciuria \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:25)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909132	20931281	1188	CLCNKB	umls:C0268450	BeFree	Gitelman syndrome due to p.A204T mutation in CLCNKB gene.	0.121357209	2010	CLCNKB	1	16048537	G	A
rs121909379	NA	6559	SLC12A3	umls:C0268450	CLINVAR	NA	0.600220512	NA	SLC12A3	16	56894558	T	C
rs121909380	NA	6559	SLC12A3	umls:C0268450	CLINVAR	NA	0.600220512	NA	SLC12A3	16	56886402	G	A,T
rs121909382	NA	6559	SLC12A3	umls:C0268450	CLINVAR	NA	0.600220512	NA	SLC12A3	16	56884142	C	A,T
rs121909383	NA	6559	SLC12A3	umls:C0268450	CLINVAR	NA	0.600220512	NA	SLC12A3	16	56872737	C	T
rs121909384	NA	6559	SLC12A3	umls:C0268450	CLINVAR	NA	0.600220512	NA	SLC12A3	16	56885328	G	T
rs121909385	NA	6559	SLC12A3	umls:C0268450	CLINVAR	NA	0.600220512	NA	SLC12A3	16	56885307	T	C
rs138977195	10988270	6559	SLC12A3	umls:C0268450	UNIPROT	Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.	0.600220512	2000	SLC12A3	16	56887967	G	A
rs139329616	10616841	6559	SLC12A3	umls:C0268450	UNIPROT	Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.	0.600220512	2000	SLC12A3	16	56884111	G	A
rs140012781	11940055	6559	SLC12A3	umls:C0268450	UNIPROT	Genetic analysis identified a compound heterozygous mutation in the Na-Cl cotransporter gene (NCCT), confirming the diagnosis of GS.	0.600220512	2002	SLC12A3	16	56886366	C	T
rs146158333	10616841	6559	SLC12A3	umls:C0268450	UNIPROT	Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.	0.600220512	2000	SLC12A3	16	56869762	C	A,G,T
rs185927948	17873326	6559	SLC12A3	umls:C0268450	UNIPROT	Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.	0.600220512	2007	SLC12A3	16	56894555	T	A
rs199849117	12112667	6559	SLC12A3	umls:C0268450	UNIPROT	Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.	0.600220512	2002	SLC12A3	16	56913293	G	A
rs200697179	15069170	6559	SLC12A3	umls:C0268450	UNIPROT	Moreover, our study suggests that the distribution of mutations in the NCCT gene in Japanese GS patients potentially differs from that in other populations.	0.600220512	2004	SLC12A3	16	56885363	C	G,T
rs201540273	12472765	1188	CLCNKB	umls:C0268450	BeFree	The exact role of the CLCNKB R438H mutation in the pathogenesis of the electrolyte and mineral abnormalities in GS and CBS remains to be established.	0.121357209	2003	CLCNKB	1	16051725	G	A
rs267607050	NA	6559	SLC12A3	umls:C0268450	CLINVAR	NA	0.600220512	NA	SLC12A3	16	56868355	C	T
rs267607051	NA	6559	SLC12A3	umls:C0268450	CLINVAR	NA	0.600220512	NA	SLC12A3	16	56894594	G	A
rs28936387	NA	6559	SLC12A3	umls:C0268450	CLINVAR	NA	0.600220512	NA	SLC12A3	16	56879153	T	C
rs28936387	8528245	6559	SLC12A3	umls:C0268450	UNIPROT	We now demonstrate complete linkage of Gitelman's syndrome to the locus encoding the renal thiazide-sensitive Na-Cl cotransporter, and identify a wide variety of non-conservative mutations, consistent with loss of function alleles, in affected subjects.	0.600220512	1996	SLC12A3	16	56879153	T	C
rs28936388	11168953	6559	SLC12A3	umls:C0268450	UNIPROT	We evaluated the symptoms and quality of life (QOL) in 50 adult GS patients with confirmed mutations in NCCT, using a standardized questionnaire.	0.600220512	2001	SLC12A3	16	56870119	C	T
rs28936388	NA	6559	SLC12A3	umls:C0268450	CLINVAR	NA	0.600220512	NA	SLC12A3	16	56870119	C	T
rs28936388	12112667	6559	SLC12A3	umls:C0268450	UNIPROT	Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.	0.600220512	2002	SLC12A3	16	56870119	C	T
rs28936389	8528245	6559	SLC12A3	umls:C0268450	UNIPROT	We now demonstrate complete linkage of Gitelman's syndrome to the locus encoding the renal thiazide-sensitive Na-Cl cotransporter, and identify a wide variety of non-conservative mutations, consistent with loss of function alleles, in affected subjects.	0.600220512	1996	NA	NA	NA	NA	NA
rs371443644	NA	6559	SLC12A3	umls:C0268450	CLINVAR	NA	0.600220512	NA	SLC12A3	16	56865414	C	T
rs568513106	NA	6559	SLC12A3	umls:C0268450	CLINVAR	NA	0.600220512	NA	SLC12A3	16	56870699	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	222
Disease	gitelman syndrome
Case	(Waiting for update.)