
 Phenotype ID
|

 Phenotype details
|

 Diagnosis/Initial
|

 Diagnosis/Definite
|

 Inheritance
|

 Age/Examination
|

 Age/Diagnosis
|

 Age/Onset
|

 Phenotype/Onset
|

 Protein
|

 Owner
|

 Individual ID
|
0000060444 |
Gitelman syndrome (OMIM:263800) |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Daniel Trujillano |
00080875 |
0000154433 |
- |
- |
- |
Isolated (sporadic) |
- |
20y |
- |
- |
- |
Rosa Vargas-Poussou |
00206493 |
0000154439 |
- |
- |
- |
Unknown |
- |
30y |
- |
- |
- |
Rosa Vargas-Poussou |
00206500 |
0000249796 |
severe hypokalemia, clinical Gitelmann-syndrome |
- |
- |
Unknown |
31y |
- |
- |
- |
- |
Andreas Laner |
00331603 |
0000268628 |
clinically Gitelmann syndrome, cardiac arrhythmia, SA block |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Andreas Laner |
00373352 |
0000326948 |
hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
26y |
26y |
- |
- |
- |
Johan den Dunnen |
00437029 |
0000326949 |
incidental finding |
Gitelman syndrome |
- |
Familial, autosomal recessive |
9y |
7y |
- |
- |
- |
Johan den Dunnen |
00437030 |
0000326950 |
hypokalemia; hypomagnesemia; hypocalciuria; |
Gitelman syndrome |
- |
Familial, autosomal recessive |
9y10m |
9y |
- |
- |
- |
Johan den Dunnen |
00437031 |
0000326951 |
hypokalemia; chronic hyperaldosteronism; episode of gastroenteritis |
Gitelman syndrome |
- |
Familial, autosomal recessive |
12y6m |
12y |
- |
- |
- |
Johan den Dunnen |
00437032 |
0000326952 |
hypokalemia; hypomagnesemia; hypocalciuria |
Gitelman syndrome |
- |
Familial, autosomal recessive |
33y6m8 |
33y |
- |
- |
- |
Johan den Dunnen |
00437033 |
0000326953 |
hypokalemia; hypomagnesemia; metabolic alkalosis; asthenia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
48y1m |
- |
- |
- |
- |
Johan den Dunnen |
00437034 |
0000326954 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437035 |
0000326955 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
5y |
- |
- |
- |
Johan den Dunnen |
00437036 |
0000326956 |
hypokalemia; cramps; hypochloremia; hand and leg myoclonus; alkalosis |
Gitelman syndrome |
- |
Familial, autosomal recessive |
28y6m8 |
14y |
- |
- |
- |
Johan den Dunnen |
00437037 |
0000326957 |
high blood pressure; hypokalemia; metabolic alkalosis |
Gitelman syndrome |
- |
Familial, autosomal recessive |
42y1m |
42y |
- |
- |
- |
Johan den Dunnen |
00437038 |
0000326958 |
pyelonephritis |
Gitelman syndrome |
- |
Familial, autosomal recessive |
1y |
1y |
- |
- |
- |
Johan den Dunnen |
00437039 |
0000326959 |
hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
31y6m8 |
31y |
- |
- |
- |
Johan den Dunnen |
00437040 |
0000326960 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437041 |
0000326961 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
32y |
- |
- |
- |
- |
Johan den Dunnen |
00437042 |
0000326962 |
hypokalemia; asthenia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
18y2m |
18y |
- |
- |
- |
Johan den Dunnen |
00437043 |
0000326963 |
hypokalemia; hypochloremia; alkalosis; asthenia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
53y6m |
53y |
- |
- |
- |
Johan den Dunnen |
00437044 |
0000326964 |
asymptomatic profound hypokalemia; metabolic alkalosis; hypomagnesemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
38y5m |
38y |
- |
- |
- |
Johan den Dunnen |
00437045 |
0000326965 |
hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
28y8m |
28y |
- |
- |
- |
Johan den Dunnen |
00437046 |
0000326966 |
hypokalemia; asthenia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
39y2m |
- |
- |
- |
- |
Johan den Dunnen |
00437047 |
0000326967 |
cramps; hypokalemia; |
Gitelman syndrome |
- |
Familial, autosomal recessive |
23y10m |
23y |
- |
- |
- |
Johan den Dunnen |
00437048 |
0000326968 |
hypokalemia; faintness |
Gitelman syndrome |
- |
Familial, autosomal recessive |
14y2m |
14y |
- |
- |
- |
Johan den Dunnen |
00437049 |
0000326969 |
deterioration of general condition; hypokalemia; polyphagia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
11y3m |
11y |
- |
- |
- |
Johan den Dunnen |
00437050 |
0000326970 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437051 |
0000326971 |
hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
36y11m |
37y |
- |
- |
- |
Johan den Dunnen |
00437052 |
0000326972 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437053 |
0000326973 |
incidental finding |
Gitelman syndrome |
- |
Familial, autosomal recessive |
18y |
18y |
- |
- |
- |
Johan den Dunnen |
00437054 |
0000326974 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437055 |
0000326975 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437056 |
0000326976 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437057 |
0000326977 |
tetany |
Gitelman syndrome |
- |
Familial, autosomal recessive |
32y |
20y |
- |
- |
- |
Johan den Dunnen |
00437058 |
0000326978 |
hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
61y6m |
20y |
- |
- |
- |
Johan den Dunnen |
00437059 |
0000326979 |
hypokalaemic tubular acidosis; hypomagnesemia; hypermagnesuria |
Gitelman syndrome |
- |
Familial, autosomal recessive |
72y1m |
70y |
- |
- |
- |
Johan den Dunnen |
00437060 |
0000326980 |
malaise; hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
18y |
18y |
- |
- |
- |
Johan den Dunnen |
00437061 |
0000326981 |
hypokalemia; faintness; hypomagnesemia; metabolic alkalosis; |
Gitelman syndrome |
- |
Familial, autosomal recessive |
18y2m |
18y |
- |
- |
- |
Johan den Dunnen |
00437062 |
0000326982 |
fortuitous hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
16y4m |
15y |
- |
- |
- |
Johan den Dunnen |
00437063 |
0000326983 |
hypokalemia; faintness |
Gitelman syndrome |
- |
Familial, autosomal recessive |
39y5m |
18y |
- |
- |
- |
Johan den Dunnen |
00437064 |
0000326984 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
58y |
- |
- |
- |
- |
Johan den Dunnen |
00437065 |
0000326985 |
hypokalemia; metabolic alkalosis; hypomagnesemia; growth failure |
Gitelman syndrome |
- |
Familial, autosomal recessive |
21y8m |
22y |
- |
- |
- |
Johan den Dunnen |
00437066 |
0000326986 |
hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
35y |
30y |
- |
- |
- |
Johan den Dunnen |
00437067 |
0000326987 |
hypokalemia; polyarthralgia; asthenia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
52y8m |
52y |
- |
- |
- |
Johan den Dunnen |
00437068 |
0000326988 |
hypokalemia; asthenia; faintness; tetany |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
17y |
- |
- |
- |
Johan den Dunnen |
00437069 |
0000326989 |
hypokalemia; tetany; abdominal pains; vomiting; convulsion; cardiac arrest |
Gitelman syndrome |
- |
Familial, autosomal recessive |
64y11m |
64y |
- |
- |
- |
Johan den Dunnen |
00437070 |
0000326990 |
hypokalemia; alkalosis; hypomagnesemia; chondrocalcinosis |
Gitelman syndrome |
- |
Familial, autosomal recessive |
49y3m |
49y |
- |
- |
- |
Johan den Dunnen |
00437071 |
0000326991 |
tingling of feet and hand; hypokalemia; |
Gitelman syndrome |
- |
Familial, autosomal recessive |
12y11m |
12y |
- |
- |
- |
Johan den Dunnen |
00437072 |
0000326992 |
hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
61y6m |
30y |
- |
- |
- |
Johan den Dunnen |
00437073 |
0000326993 |
growth retardation |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
12y |
- |
- |
- |
Johan den Dunnen |
00437074 |
0000326994 |
hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
44y9m |
44y |
- |
- |
- |
Johan den Dunnen |
00437075 |
0000326995 |
growth failure (-4SD); hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
5y |
5y |
- |
- |
- |
Johan den Dunnen |
00437076 |
0000326996 |
hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
37y11m |
37y |
- |
- |
- |
Johan den Dunnen |
00437077 |
0000326997 |
chronic hypokalemia; arterial hypotension |
Gitelman syndrome |
- |
Familial, autosomal recessive |
46y |
45y |
- |
- |
- |
Johan den Dunnen |
00437078 |
0000326998 |
ischemic cardiopathy; cramps |
Gitelman syndrome |
- |
Familial, autosomal recessive |
50y6m8 |
22y |
- |
- |
- |
Johan den Dunnen |
00437079 |
0000326999 |
hypokalemia; arterial hypertension; obesity |
Gitelman syndrome |
- |
Familial, autosomal recessive |
50y9m |
52y |
- |
- |
- |
Johan den Dunnen |
00437080 |
0000327000 |
hypokalemia; asthenia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
37y9m |
37y |
- |
- |
- |
Johan den Dunnen |
00437081 |
0000327001 |
hypokalemia; cramps |
Gitelman syndrome |
- |
Familial, autosomal recessive |
54y6m |
47y |
- |
- |
- |
Johan den Dunnen |
00437082 |
0000327002 |
hypokalemia; heart palpitations |
Gitelman syndrome |
- |
Familial, autosomal recessive |
42y6m8 |
43y |
- |
- |
- |
Johan den Dunnen |
00437083 |
0000327003 |
hypokalemia; cramps; major asthenia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
71y |
65y |
- |
- |
- |
Johan den Dunnen |
00437084 |
0000327004 |
hypokalemia; hypomagnesemia; knee chondrocalcinosis |
Gitelman syndrome |
- |
Familial, autosomal recessive |
51y3m |
51y |
- |
- |
- |
Johan den Dunnen |
00437085 |
0000327005 |
hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
47y11m |
48y |
- |
- |
- |
Johan den Dunnen |
00437086 |
0000327006 |
HTA hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
59y8m |
54y |
- |
- |
- |
Johan den Dunnen |
00437087 |
0000327007 |
arythmia and hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
43y3m |
43y |
- |
- |
- |
Johan den Dunnen |
00437088 |
0000327008 |
hypokalemia; asthenia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
26y8m |
27y |
- |
- |
- |
Johan den Dunnen |
00437089 |
0000327009 |
algodystrophy; hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
34y4m |
34y |
- |
- |
- |
Johan den Dunnen |
00437090 |
0000327010 |
vomiting, diarrhea |
Gitelman syndrome |
- |
Familial, autosomal recessive |
10y |
10y |
- |
- |
- |
Johan den Dunnen |
00437091 |
0000327011 |
heart palpitations; faintness; chondrocalcinosis; hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
48y6m8 |
44y |
- |
- |
- |
Johan den Dunnen |
00437092 |
0000327012 |
hypokalemia; hypochloremia; arterial hypertension |
Gitelman syndrome |
- |
Familial, autosomal recessive |
61y9m |
49y |
- |
- |
- |
Johan den Dunnen |
00437093 |
0000327013 |
HTA hypokalemia; nephrolithiasis |
Gitelman syndrome |
- |
Familial, autosomal recessive |
50y6m8 |
50y |
- |
- |
- |
Johan den Dunnen |
00437094 |
0000327014 |
hypokalemia; tachyarrhythmia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
46y |
45y |
- |
- |
- |
Johan den Dunnen |
00437095 |
0000327015 |
hypokalemia; asthenia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
15y3m |
15y |
- |
- |
- |
Johan den Dunnen |
00437096 |
0000327016 |
hypokalemia; metabolic alkalosis |
Gitelman syndrome |
- |
Familial, autosomal recessive |
17y6m |
16y |
- |
- |
- |
Johan den Dunnen |
00437097 |
0000327017 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437098 |
0000327018 |
hypokalemia; asthenia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
32y5m |
30y |
- |
- |
- |
Johan den Dunnen |
00437099 |
0000327019 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437100 |
0000327020 |
hypokalemia; hypomagnesemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
41y |
- |
- |
- |
Johan den Dunnen |
00437101 |
0000327021 |
vomiting; hypokalemia; metabolic alkalosis; hypomagnesemia; |
Gitelman syndrome |
- |
Familial, autosomal recessive |
50y1m |
50y |
- |
- |
- |
Johan den Dunnen |
00437102 |
0000327022 |
hypokalemia; acute leukemia; arrythemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
41y9m |
40y |
- |
- |
- |
Johan den Dunnen |
00437103 |
0000327023 |
hypokalemia; asthenia; growth faltering |
Gitelman syndrome |
- |
Familial, autosomal recessive |
8y9m |
8y |
- |
- |
- |
Johan den Dunnen |
00437104 |
0000327024 |
hypokalemia; faintness; hypomagnesemia; metabolic alkalosis; secondary hyperaldosteronism |
Gitelman syndrome |
- |
Familial, autosomal recessive |
45y6m |
45y |
- |
- |
- |
Johan den Dunnen |
00437105 |
0000327025 |
fortuitous hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
55y6m |
55y |
- |
- |
- |
Johan den Dunnen |
00437106 |
0000327026 |
hypokalemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
49y1m |
40y |
- |
- |
- |
Johan den Dunnen |
00437107 |
0000327027 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437108 |
0000327028 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437109 |
0000327029 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437110 |
0000327030 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437111 |
0000327031 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437112 |
0000327032 |
hypomagnesemia |
Gitelman syndrome |
- |
Familial, autosomal recessive |
69y |
68y |
- |
- |
- |
Johan den Dunnen |
00437113 |
0000327033 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437114 |
0000327034 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437115 |
0000327035 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437116 |
0000327036 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437117 |
0000327037 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437118 |
0000327038 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437119 |
0000327039 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437120 |
0000327040 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437121 |
0000327041 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437122 |
0000327042 |
- |
Gitelman syndrome |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00437123 |