Phenotypes for disease #01664 (GACI1 (calcification, arterial, generalized, infancy, type 1 (GACI-1)), OMIM:208000)

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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000058794 calcification aorta, diverse arteries, pulmonary arteries, renal arteries; no periarticular calcifications; pericardial effusion; polyhydramnios, anasarque; bisphosphonates etidronate and pamidronate - - Familial, autosomal recessive 18d - - - - Yvonne Nitschke 00079035
0000058795 calcification aorta, diverse arteries; no periarticular calcifications; pericardial effusion, RV hypertrophy; hydrops fetalis, oligurie, pleural effusion; no bisphosphonates - - Familial, autosomal recessive 1d - - - - Yvonne Nitschke 00079036
0000058796 calcification aorta, diverse arteries, renal arteries; no periarticular calcifications; cardiomegaly, hypertension; hydrops fetalis, anemia, anuric, ascitis; bisphosphonates pamidronate - - Familial, autosomal recessive 10d - - - - Yvonne Nitschke 00079037
0000058797 calcification aorta, diverse arteries; no bisphosphonates - - Familial, autosomal recessive 1d - - - - Yvonne Nitschke 00079038
0000058798 stillbirth; calcification aorta, diverse arteries; no periarticular calcifications; cardiomegaly; polyhydramnios, anasarque; no bisphosphonates - - Familial, autosomal recessive 0d - - - - Yvonne Nitschke 00079039
0000058799 calcification aorta; heart failure; hydrops fetalis; no bisphosphonates - - Familial, autosomal recessive 2m - - - - Yvonne Nitschke 00079040
0000058800 stillbirth; calcification aorta, coronary arteries, renal arteries, heart valves; no periarticular calcifications; biventricular dysfunction, pericardial effusion; polyhydramnios; no bisphosphonates - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079041
0000058801 died after 15 min.; calcification aorta, coronary arteries, pulmonary arteries; pericardial effusion; hydrops fetalis; no bisphosphonates - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079042
0000058802 calcification diverse arteries; dilated ivc, poor biventricular systolic function, dilated RA and RV, small PFO, small pda with left to right shunt, hypotension,; hydrops fetalis, liver dysfunction, ascites, retinal haemorrhage - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079043
0000058803 died after 1h; calcification diverse arteries, pulmonary arteries; no periarticular calcifications; no bisphosphonates - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079044
0000058804 calcification aorta, diverse arteries, coronary arteries, renal arteries, heart valves; no periarticular calcifications; cardiomegaly, hypertension; bisphosphonates etidronate; resolution of calcifications - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079045
0000058805 calcification aorta, diverse arteries, coronary arteries, pulmonary arteries; - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079046
0000058806 calcification aorta, pulmonary arteries; calcification of pericardium; hypophosphatemic rickets, effused c2-c3 vertebrae, calcification of renal capsule, knee deformity; no bisphosphonates; spontaneous resolution of calcifications; - - Familial, autosomal recessive 16y - - - - Yvonne Nitschke 00079047
0000058807 calcification aorta, coronary arteries, renal arteries; no periarticular calcifications; poor LV function, biventricular hypertrophy, hypertension, hypertrophic cardiomyopathy, mild pulmonary hypertension, dilated ascending aorta; renal failure with complete occlusion of renal arteries, hepatomegaly, narrowing of neck and renal vessels; no bisphosphonates; no hypophosphatemia - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079048
0000058808 calcification aorta, coronary arteries, renal arteries, heart valves; no periarticular calcifications; ventricular dysfunction, dilated cardiomyopathy, hypertrophe cardiomyopathy, hypertensionrenal artery stenoses; bisphosphonates etidronate; no hypophosphatemia - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079049
0000058809 calcification diverse arteries, coronary arteries, pulmonary arteries; no periarticular calcifications; cardiomegaly, pericardial effusion; pleural effusion, ascites - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079050
0000058810 calcification aorta, pulmonary arteries, heart valves; periarticular calcifications shoulders, hip, knee; pericardial effusion, LV hypertrophy, dilated RV, hypertension,; polyhydramnios, fetal hydrops, nephrocalcinosis, cerebral atrophy, ascites, abdominal aorta narrowed under diaphragm, spastic tetraparesis with dystonic component; no bisphosphonates; spontaneous resolution of calcifications - - Familial, autosomal recessive 6y - - - - Yvonne Nitschke 00079051
0000058811 calcification aorta, heart valves; no periarticular calcifications; hypertension; generalized articular pain, knee valgism, hypophosphatemic rickets; spontaneous resolution of calcifications - - Familial, autosomal recessive 14y6m - - - - Yvonne Nitschke 00079052
0000058812 calcification coronary arteries, renal arteries; no periarticular calcifications; hepatic haemangioma; no hypophosphatemia - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079053
0000058813 calcification aorta, diverse arteries, pulmonary arteries; no periarticular calcifications; diffuse hypertrophy, pericardial effusion, global dysfunction; multiple echogenic foci in brain parenchyma, periventricular area; no bisphosphonates - - Familial, autosomal recessive 35d - - - - Yvonne Nitschke 00079054
0000058814 stillbirth; calcification aorta, pulmonary arteries; periarticular calcifications; pericardial effusion, cardiomegaly,; pleural effusion, splenomegaly, brain calcification (Thalamus); no bisphosphonates - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079055
0000058815 calcification aorta, coronary arteries, pulmonary arteries; LV dysfunction, cardiomegaly,; brain calcification, kidney calcification; bisphosphonates pamidronate; no hypophosphatemia, no hypophosphaturia - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079056
0000058816 died after 5h; calcification aorta, diverse arteries, pulmonary arteries, renal arteries; no periarticular calcifications; cardiomegaly; narrowing of splenic and mesenterial arteries; no bisphosphonates - - Familial, autosomal recessive 1d - - - - Yvonne Nitschke 00079057
0000058817 calcification coronary arteries, diverse arteries; no periarticular calcifications; cardiomegaly, LV dysfunction; pulmonary plethora; bisphosphonates risedronate - - Familial, autosomal recessive 3m - - - - Yvonne Nitschke 00079058
0000058818 died after 9h; calcification aorta, pulmonary arteries; no periarticular calcifications; dilated RV and LV, decreased contractility , cardiomegaly; hydrops fetalis, ascites, pleural effusion; no hypophosphatemia - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079059
0000058819 calcification aorta; hypertension; bisphosphonates pamidronate; no resolution of calcifications; - - Familial, autosomal recessive 2y - - - - Yvonne Nitschke 00079060
0000058820 calcification diverse arteries; no periarticular calcifications; LV dysfunction, LV hypokinesia; bisphosphonates pamidronate; no resolution of calcifications - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079061
0000058821 calcification aorta, coronary arteries, diverse arteries, pulmonary arteries; periarticular calcifications hips, ankles, wrists, shoulders; hypertension in neonatal period; angioid streaks in retina, cutaneous hyperlaxity, angioid skin spots, genu valgum hypophosphatemic rickets, pseudoxanthomatous lesions on the neck; bisphosphonatesclodronate p.o.; resolution of calcifications - - Familial, autosomal recessive 10y - - - - Yvonne Nitschke 00079062
0000058822 calcification aorta, diverse arteries, pulmonary arteries, renal arteries, endo- cardium; painful wrist calcifications in the neonatal period in hip, shoulder, wrist; genu valgum, angioid streaks in the Bruch’s membrane, deafness, cutaneous hyperlaxity, hypophosphatemic rickets developed at 3 years, stapedovestibular ankylosis leading to hearing loss; no bisphosphonates; no hypophosphatemia - - Familial, autosomal recessive 3y - - - - Yvonne Nitschke 00079063
0000058823 calcification aorta, coronary arteries, renal arteries; no periarticular calcifications; no bisphosphonates; no hypophosphatemia - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079064
0000058824 calcification aorta, coronary arteries; no periarticular calcifications; bisphosphonates pamidronate, risedronate; resolution of calcifications - - Familial, autosomal recessive 2y - - - - Yvonne Nitschke 00079065
0000058825 calcification renal arteries, aorta, coronary arteries; periarticular calcifications hip, shoulder, wrists; pericardial effsuion, cardiomegaly, bicuspid aortic valve; polyhydramnios, large for gestational age, developmental disorder, phosphate diabetes, single transverse palmar crease, stenosis of A. sublcavia sinistra; bisphosphonates etidronate; resolution of calcifications - - Familial, autosomal recessive 8y - - - - Yvonne Nitschke 00079066
0000058826 calcification aorta, diverse arteries, coronary arteries, renal arteries; - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079067
0000058827 calcification aorta, coronary arteries, pulmonary arteries, renal arteries; no periarticular calcifications; pericardial effusion; laminar necrosis of cinguate gyrus, hypoxic ischaemic encephalopathy - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079068
0000058828 calcification aorta, diverse arteries, renal arteries; no periarticular calcifications; hypertension, cardiomegaly, pulmonary congestion, LV hypertrophy, dilated ventricels,; no bisphosphonates; no hypophosphatemia - - Familial, autosomal recessive 2y9m - - - - Yvonne Nitschke 00079069
0000058829 died after 5h; calcification aorta, coronary arteries, pulmonary arteries, renal arteries, heart valves ; no periarticular calcifications; no bisphosphonates - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079070
0000058830 died after 30 min.; calcification diverse arteries; no periarticular calcifications; hydrops fetalis, subcutaneous oedema, ascites, atelectatis, anaemia, abnormalities of ureterovesical junction; no bisphosphonates - - Familial, autosomal recessive - - - - - Yvonne Nitschke 00079071
0000058831 calcification aorta, coronary arteries, diverse arteries, renal arteries; no periarticular calcifications; pericardial effusion, myocardial hypertrophy, cardiac dilatation, bicuspid aortic valve, decreased contractility, interstitial oedema of myocardium; hydrops fetalis, ascites, pleural effusion, hepatosplenomegaly, periventricular leukomalacia, white matter gliosis; no bisphosphonates - - Familial, autosomal recessive 1d - - - - Yvonne Nitschke 00079072
0000058832 calcification aorta, coronary arteries, heart valves; no periarticular calcifications; bisphosphonates pamidronate; resolution of calcifications - - Familial, autosomal recessive 2y6m - - - - Yvonne Nitschke 00079073
0000058833 stillbirth; no bisphosphonates - - Familial, autosomal recessive 0d - - - - Yvonne Nitschke 00079074
0000306882 - - - Unknown - - - - - Stephanie Mercurio 00415081
0000309026 - - - Familial, autosomal recessive - - - - - Stephanie Mercurio 00417545
0000309027 - - - Familial, autosomal recessive - - - - - Stephanie Mercurio 00417546
0000309033 - - - Familial, autosomal recessive - - - - - Stephanie Mercurio 00417551
0000309040 - - - Familial, autosomal recessive - - - - - Stephanie Mercurio 00417555
0000309041 - - - Familial, autosomal recessive - - - - - Stephanie Mercurio 00417556
0000309047 - - - Familial, autosomal recessive - - - - - Stephanie Mercurio 00417560
0000309048 - - - Familial, autosomal recessive - - - - - Stephanie Mercurio 00417561
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