ORPHA:51608
Generalized arterial calcification of infancy
Synonyms: Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy · Infantile arteriosclerosis · Occlusive infantile arteriopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Generalized arterial calcification of infancy | Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy · Infantile arteriosclerosis · Occlusive infantile arteriopathy |
| fr | Calcification artérielle généralisée infantile | Artériopathie oblitérante idiopathique · Artériopathie occlusive infantile · Artériosclérose infantile · Calcification artérielle idiopathique infantile |
| de | Arterienkalzifikation, generalisierte infantile | Arterienkalzifikation, idiopathische infantile · Arteriopathie, idiopathische obliterative · Arteriopathie, infantile okklusive · Arteriosklerose, infantile |
| es | Calcificación arterial generalizada del lactante | Arteriopatía obliterante idiopática · Arteriopatía oclusiva del lactante · Arteriosclerosis del lactante · Calcificación arterial del lactante idiopática |
| it | Calcificazione arteriosa generalizzata dell'infanzia | Arteriopatia infantile idiopatica · Arteriopatia obliterante idiopatica · Arteriosclerosi infantile · Calcificazione arteriosa infantile idiopatica |
| nl | Gegeneraliseerde arteriële calcificatie in de kinderjaren | Idiopathische infantiele arteriële calcificatie · Idiopathische obliteratieve arteriopathie · Infantiele arteriosclerose · Occlusieve infantiele arteriopathie |
| pt | Calcificação arterial generalizada da infância | |
| pl | Uogólnione zwapnienie ścian tętnic niemowląt | Idiopatyczna arteriopatia zarostowa · Idiopatyczne zwapnienie ścian tętnic niemowląt · Zarostowa arteriopatia niemowląt |
| cs | Generalizovaná arteriální kalcifikace u kojenců | Idiopatická kojenecká arteriální kalcifikace · Idiopatická obliterativní arteriopatie · Kojenecká arterioskleróza · Okluzivní kojenecká arteriopatie |
| uk | Генералізована кальцифікація артерій у дітей раннього віку | Ідіопатична дитяча артеріальна кальцифікація · Ідіопатична облітеруюча артеріопатія · Інфантильний артеріосклероз · Оклюзійна дитяча артеріопатія |
| zh | 婴儿全身性动脉钙化 | 特发性婴儿动脉钙化 |
| tr | Süt çocuğunda jeneralize arteriyel kalsifikasyonu | İnfantil arteriyoskleroz · Oklüzif infantil arteriyopati · İdiyopatik obliteratif arteriyopati · İdiyopatik infantil arteriyel kalsifikasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208000 | BTNT | validated | |
| OMIM | 614473 | BTNT | validated | |
| ICD-10 | Q28.8 | NTBT | index | validated |
| ICD-11 | BD52 | NTBT | index | validated |
| MONDO | 0018870 | E | validated | |
| MONDO | 18870 | E | validated | |
| MeSH | C537440 | E | validated | |
| UMLS | C1859727 | E | validated | |
| GARD | 8380 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:233655Rare genetic vascular disease
rare genetic diseases; rare circulatory system diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ENPP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3356 | ENSG00000197594 | 173335 | 6q23.2 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | 25392903[PMID] |
| ABCC6 | Disease-causing germline mutation(s) in | Assessed | HGNC:57 | ENSG00000091262 | 603234 | 16p13.11 | ATP binding cassette subfamily C member 6 | 25392903[PMID]_22209248[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | [EXPERT]_25392903[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
60 annotations · validated 2021-01-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003207 | Arterial calcification | Diagnostic criterion |
| HP:0004963 | Calcification of the aorta | |
| HP:0004940 | Generalized arterial calcification | |
| HP:0006559 | Hepatic calcification | |
| Frequent (79-30%) | ||
| HP:0001717 | Coronary artery calcification | |
| HP:0000961 | Cyanosis | |
| HP:0010766 | Ectopic calcification | |
| HP:0011968 | Feeding difficulties | |
| HP:0025116 | Fetal distress | |
| HP:0000365 | Hearing impairment | |
| HP:0000822 | Hypertension | |
| HP:0004912 | Hypophosphatemic rickets | |
| HP:0025169 | Left ventricular systolic dysfunction | |
| HP:0004966 | Medial calcification of large arteries | |
| HP:0012457 | Medial calcification of medium-sized arteries | |
| HP:0012408 | Medullary nephrocalcinosis | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0002749 | Osteomalacia | |
| HP:0025477 | Periarticular calcification | |
| HP:0001561 | Polyhydramnios | |
| HP:0002098 | Respiratory distress | |
| Occasional (29-5%) | ||
| HP:0009164 | Abnormal calcification of the carpal bones | |
| HP:0000630 | Abnormal retinal artery morphology | |
| HP:0002829 | Arthralgia | |
| HP:0001541 | Ascites | |
| HP:0001640 | Cardiomegaly | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0012409 | Cortical nephrocalcinosis | |
| HP:0000969 | Edema | |
| HP:0010639 | Elevated alkaline phosphatase of bone origin | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001945 | Fever | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0001789 | Hydrops fetalis | |
| HP:0000737 | Irritability | |
| HP:0000410 | Mixed hearing impairment | |
| HP:0001698 | Pericardial effusion | |
| HP:0200067 | Recurrent spontaneous abortion | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000381 | Stapes ankylosis | |
| HP:0003941 | Stippled calcification of the elbow | |
| HP:0003836 | Stippled calcification of the shoulder | |
| HP:0001714 | Ventricular hypertrophy | |
| HP:0002013 | Vomiting | |
| HP:0032553 | Weak pulse | |
| Very rare (<4-1%) | ||
| HP:0001102 | Angioid streaks of the fundus | |
| HP:0002647 | Aortic dissection | |
| HP:0005103 | Calcification of the auricular cartilage | |
| HP:0002514 | Cerebral calcification | |
| HP:0011506 | Choroidal neovascularization | |
| HP:0040197 | Encephalomalacia | |
| HP:0100758 | Gangrene | |
| HP:0003109 | Hyperphosphaturia | |
| HP:0006690 | Myocardial calcification | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0000573 | Retinal hemorrhage | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0001297 | Stroke | |
| HP:0002326 | Transient ischemic attack | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25392903[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/51608
- This record as JSON: /data/d/51608.json