ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2

General Information (adopted from Orphanet):

Synonyms, Signs: GACI2
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614473
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000121) Nephrocalcinosis rare [HPO:skoehler] 57 / 7739
2
(HPO:0001717) Coronary artery calcification 4 / 7739
3
(HPO:0004912) Hypophosphatemic rickets rare [HPO:skoehler] 13 / 7739
4
(HPO:0000822) Hypertension rare [HPO:skoehler] 224 / 7739
5
(HPO:0001635) Congestive heart failure 232 / 7739
6
(HPO:0001658) Myocardial infarction rare [HPO:skoehler] 30 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Generalized calcification of arteries, including aorta and intraparenchymal arteries 2 / 7739
9
(OMIM) Cardiac dysfunction 3 / 7739
10
(OMIM) Tubular calcification (in some patients) 1 / 7739
11
(OMIM) Calcification of renal arteries 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months ...
Clinical Description OMIM Glatz et al. (2006) described 2 patients with idiopathic infantile arterial calcification (IIAC). The first was an infant girl who presented at 33 days of life with tachypnea, tachycardia, cool extremities, and poor peripheral pulses. Echocardiography demonstrated cardiac ...
Molecular genetics OMIM In an infant girl with generalized arterial calcification who died at 6.5 weeks of age, Glatz et al. (2006) analyzed the gene associated with GACI1 (208000), ENPP1 (173335), but no pathogenic mutations were found. Nitschke et al. (2012) ...