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

Official abbreviation GACI1
Name calcification, arterial, generalized, infancy, type 1 (GACI-1)
OMIM ID 208000
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 49
Phenotype entries for this disease 48
Associated with 1 gene ENPP1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

49 entries on 1 page. Showing entries 1 - 49.
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00079035 - PubMed: Edouard 2011, PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 2 unaffected sibs F no France French Canadian - - - - GACI1 calcification aorta, diverse arteries, pulmonary arteries, renal arteries; no periarticular calcifications; pericardial effusion; polyhydramnios, anasarque; bisphosphonates etidronate and pamidronate ENPP1 ENPP1 1 1 Yvonne Nitschke
00079036 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected twin pair, 1 unaffected sibs M no France French Canadian 3d - - - GACI1 calcification aorta, diverse arteries; no periarticular calcifications; pericardial effusion, RV hypertrophy; hydrops fetalis, oligurie, pleural effusion; no bisphosphonates ENPP1 ENPP1 1 2 Yvonne Nitschke
00079037 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 2 affected, 1 unaffected sibs F no France white 26d - - - GACI1 calcification aorta, diverse arteries, renal arteries; no periarticular calcifications; cardiomegaly, hypertension; hydrops fetalis, anemia, anuric, ascitis; bisphosphonates pamidronate ENPP1 ENPP1 1 2 Yvonne Nitschke
00079038 - PubMed: Stella 2016 sister Fam3Pat3 F no France white 1d - - - GACI1 calcification aorta, diverse arteries; no bisphosphonates ENPP1 ENPP1 1 1 Yvonne Nitschke
00079039 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 2 unaffected sibs M no France - 0d - - - GACI1 stillbirth; calcification aorta, diverse arteries; no periarticular calcifications; cardiomegaly; polyhydramnios, anasarque; no bisphosphonates ENPP1 ENPP1 2 1 Yvonne Nitschke
00079040 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected F ? Ireland - 2m - - - GACI1 calcification aorta; heart failure; hydrops fetalis; no bisphosphonates ENPP1 ENPP1 1 1 Yvonne Nitschke
00079041 - Van de Woestijne 1988 (Ped.Pathol. 8:675–676), PubMed: Levine 2001, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no United States - 0d - - - GACI1 stillbirth; calcification aorta, coronary arteries, renal arteries, heart valves; no periarticular calcifications; biventricular dysfunction, pericardial effusion; polyhydramnios; no bisphosphonates ENPP1 ENPP1 1 2 Yvonne Nitschke
00079042 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affected, 1 unaffected sibs F no Canada - 1d - - - GACI1 died after 15 min.; calcification aorta, coronary arteries, pulmonary arteries; pericardial effusion; hydrops fetalis; no bisphosphonates ENPP1 ENPP1 1 2 Yvonne Nitschke
00079043 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no Ireland - 9d - - - GACI1 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 ENPP1 ENPP1 1 2 Yvonne Nitschke
00079044 - Van de Woestijne 1988 (Ped.Pathol. 8:675–676), PubMed: Bellah 1992, PubMed: Ruf 2005 2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 3 unaffected sibs F no United States Ireland 1d - - - GACI1 died after 1h; calcification diverse arteries, pulmonary arteries; no periarticular calcifications; no bisphosphonates ENPP1 ENPP1 1 3 Yvonne Nitschke
00079045 - PubMed: Stella 2016 sister Fam9Pat10 F no United States Ireland 7m14d - - - GACI1 calcification aorta, diverse arteries, coronary arteries, renal arteries, heart valves; no periarticular calcifications; cardiomegaly, hypertension; bisphosphonates etidronate; resolution of calcifications ENPP1 ENPP1 1 1 Yvonne Nitschke
00079046 - PubMed: Ruf 2005 2-generation family, unaffected heterozygous carrier parents, 3 affecteds (1 twin pair) M no United Kingdom (Great Britain) - 1m14d - - - GACI1 calcification aorta, diverse arteries, coronary arteries, pulmonary arteries; ENPP1 ENPP1 2 3 Yvonne Nitschke
00079047 - PubMed: Ruf 2005, PubMed: Rutsch 2008 twin sister Fam10Pat12 F no United Kingdom (Great Britain) - - - - - GACI1 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; ENPP1 ENPP1 2 1 Yvonne Nitschke
00079048 - PubMed: Inwald 2006, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no United Kingdom (Great Britain) - 5m - - - GACI1 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 ENPP1 ENPP1 2 2 Yvonne Nitschke
00079049 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds, 2 unaffected sibs M no Ireland - 4m14d - - - GACI1 calcification aorta, coronary arteries, renal arteries, heart valves; no periarticular calcifications; ventricular dysfunction, dilated cardiomyopathy, hypertrophe cardiomyopathy, hypertensionrenal artery stenoses; bisphosphonates etidronate; no hypophosphatemia ENPP1 ENPP1 2 2 Yvonne Nitschke
00079050 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no United Kingdom (Great Britain) - 4m - - - GACI1 calcification diverse arteries, coronary arteries, pulmonary arteries; no periarticular calcifications; cardiomegaly, pericardial effusion; pleural effusion, ascites ENPP1 ENPP1 2 2 Yvonne Nitschke
00079051 - PubMed: Ciana 1997 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no Italy;Germany;United States - - - - - GACI1 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 ENPP1 ENPP1 2 2 Yvonne Nitschke
00079052 - PubMed: Ciana 1997 sister Fam14Pat17 F no Italy;Germany;United States - - - - - GACI1 calcification aorta, heart valves; no periarticular calcifications; hypertension; generalized articular pain, knee valgism, hypophosphatemic rickets; spontaneous resolution of calcifications ENPP1 ENPP1 2 1 Yvonne Nitschke
00079053 - PubMed: Ruf 2005, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds (twin pair), 1 unaffected sib F no United States - 3m - - - GACI1 calcification coronary arteries, renal arteries; no periarticular calcifications; hepatic haemangioma; no hypophosphatemia ENPP1 ENPP1 3 2 Yvonne Nitschke
00079054 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected F no United Kingdom (Great Britain) - - - - - GACI1 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 ENPP1 ENPP1 2 1 Yvonne Nitschke
00079055 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 1 unaffected sibs M no France - 0d - - - GACI1 stillbirth; calcification aorta, pulmonary arteries; periarticular calcifications; pericardial effusion, cardiomegaly,; pleural effusion, splenomegaly, brain calcification (Thalamus); no bisphosphonates ENPP1 ENPP1 2 3 Yvonne Nitschke
00079056 - PubMed: Rutsch 2008 brother Fam17Pat21 M no France - 12d - - - GACI1 calcification aorta, coronary arteries, pulmonary arteries; LV dysfunction, cardiomegaly,; brain calcification, kidney calcification; bisphosphonates pamidronate; no hypophosphatemia, no hypophosphaturia ENPP1 ENPP1 2 1 Yvonne Nitschke
00079057 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs M no Germany;Sweden - 0d - - - GACI1 died after 5h; calcification aorta, diverse arteries, pulmonary arteries, renal arteries; no periarticular calcifications; cardiomegaly; narrowing of splenic and mesenterial arteries; no bisphosphonates ENPP1 ENPP1 2 1 Yvonne Nitschke
00079058 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs F no Germany;Australia - 4m14d - - - GACI1 calcification coronary arteries, diverse arteries; no periarticular calcifications; cardiomegaly, LV dysfunction; pulmonary plethora; bisphosphonates risedronate ENPP1 ENPP1 2 1 Yvonne Nitschke
00079059 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no Australia - 1d - - - GACI1 died after 9h; calcification aorta, pulmonary arteries; no periarticular calcifications; dilated RV and LV, decreased contractility , cardiomegaly; hydrops fetalis, ascites, pleural effusion; no hypophosphatemia ENPP1 ENPP1 2 2 Yvonne Nitschke
00079060 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no Ireland;Philippines - - - - - GACI1 calcification aorta; hypertension; bisphosphonates pamidronate; no resolution of calcifications; ENPP1 ENPP1 2 2 Yvonne Nitschke
00079061 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no Italy - 2m - - - GACI1 calcification diverse arteries; no periarticular calcifications; LV dysfunction, LV hypokinesia; bisphosphonates pamidronate; no resolution of calcifications ENPP1 ENPP1 2 2 Yvonne Nitschke
00079062 Pat1 PubMed: Nitschke 2012 2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs M yes Italy - - - - - GACI1 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 ENPP1 ENPP1 1 1 Yvonne Nitschke
00079063 Pat2 PubMed: Nitschke 2012 2-generation family, unaffected heterozygous carrier parents, 1 affected F no France;Italy - - - - - GACI1 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 ENPP1 ENPP1 2 1 Yvonne Nitschke
00079064 - PubMed: Whitehall 2003 2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 2 unaffected sibs F no United Kingdom (Great Britain) Nigeria 8d - - - GACI1 calcification aorta, coronary arteries, renal arteries; no periarticular calcifications; no bisphosphonates; no hypophosphatemia ENPP1 ENPP1 3 3 Yvonne Nitschke
00079065 - PubMed: Stella 2016 sister Fam25Pat30 F no United Kingdom (Great Britain) Nigeria - - - - GACI1 calcification aorta, coronary arteries; no periarticular calcifications; bisphosphonates pamidronate, risedronate; resolution of calcifications ENPP1 ENPP1 3 1 Yvonne Nitschke
00079066 - PubMed: Rutsch 2003, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M yes Turkey - - - - - GACI1 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 ENPP1 ENPP1 1 2 Yvonne Nitschke
00079067 - PubMed: Rutsch 2003, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affected, 3 unaffected sibs F no Germany - 00y01m - - - GACI1 calcification aorta, diverse arteries, coronary arteries, renal arteries; ENPP1 ENPP1 3 2 Yvonne Nitschke
00079068 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no United Kingdom (Great Britain) - 1d - - - GACI1 calcification aorta, coronary arteries, pulmonary arteries, renal arteries; no periarticular calcifications; pericardial effusion; laminar necrosis of cinguate gyrus, hypoxic ischaemic encephalopathy ENPP1 ENPP1 3 2 Yvonne Nitschke
00079069 - PubMed: Patel 2004 2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs F no South Africa - - - - - GACI1 calcification aorta, diverse arteries, renal arteries; no periarticular calcifications; hypertension, cardiomegaly, pulmonary congestion, LV hypertrophy, dilated ventricels,; no bisphosphonates; no hypophosphatemia ABCC6, ENPP1 ABCC6, ENPP1 2 1 Yvonne Nitschke
00079070 - PubMed: Pashankar and Moore 1997 2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 3 unaffected sibs M yes Pakistan - 1d - - - GACI1 died after 5h; calcification aorta, coronary arteries, pulmonary arteries, renal arteries, heart valves ; no periarticular calcifications; no bisphosphonates ENPP1 ENPP1 3 3 Yvonne Nitschke
00079071 - PubMed: Pashankar and Moore 1997 sister of Fam30Pat36 F yes Pakistan - 00y00m01d - - - GACI1 died after 30 min.; calcification diverse arteries; no periarticular calcifications; hydrops fetalis, subcutaneous oedema, ascites, atelectatis, anaemia, abnormalities of ureterovesical junction; no bisphosphonates ENPP1 ENPP1 3 1 Yvonne Nitschke
00079072 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 2 unaffected sibs M no Philippines - 1d - - - GACI1 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 ENPP1 ENPP1 1 1 Yvonne Nitschke
00079073 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no Ireland - - - - - GACI1 calcification aorta, coronary arteries, heart valves; no periarticular calcifications; bisphosphonates pamidronate; resolution of calcifications ENPP1 ENPP1 3 2 Yvonne Nitschke
00079074 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs F ? Italy - 0d - - - GACI1 stillbirth; no bisphosphonates ENPP1 ENPP1 2 1 Yvonne Nitschke
00415081 - - - - - - - - - - - GACI1 - ENPP1 ENPP1 1 1 Stephanie Mercurio
00417545 - - - - - - - - - - - GACI1 - ENPP1 ENPP1 2 1 Stephanie Mercurio
00417546 - - - - - - - - - - - GACI1 - ENPP1 ENPP1 2 1 Stephanie Mercurio
00417551 - - - - - - - - - - - GACI1 - ENPP1 ENPP1 2 1 Stephanie Mercurio
00417555 - - - - - - - - - - - GACI1 - ENPP1 ENPP1 1 1 Stephanie Mercurio
00417556 - - - - - - - - - - - GACI1 - ENPP1 ENPP1 1 1 Stephanie Mercurio
00417558 - - - - - - - - - - - ARHR2, GACI1 - ENPP1 ENPP1 2 1 Stephanie Mercurio
00417560 - - - - - - - - - - - ARHR2, GACI1 - ENPP1 ENPP1 1 1 Stephanie Mercurio
00417561 - - - - - - - - - - - GACI1 - ENPP1 ENPP1 1 1 Stephanie Mercurio
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