Macular telangiectasia type 1

Summary

Macular telangiectasia type 1 (MONDO:0018146) is a disease. A subtype of idiopathic disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		24	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	macular telangiectasia type 1
Mondo ID	MONDO:0018146
Orphanet	353344
UMLS	C4751437
MedGen	1653394
GARD	0021531
Is cancer (heuristic)	no

Also known as: aneurysmal telangiectasia · idiopathic macular telangiectasia type 1 · visible and exudative idiopathic juxtafoveolar retinal telangiectasis

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › idiopathic disease › macular telangiectasia type 1

Related subtypes (78): idiopathic scoliosis, idiopathic progressive polyneuropathy, idiopathic corneal edema, idiopathic peripheral autonomic neuropathy, idiopathic pulmonary arterial hypertension, idiopathic interstitial pneumonia, idiopathic granulomatous myositis, cellular phase chronic idiopathic myelofibrosis, idiopathic cardiomyopathy, fibromyalgia, idiopathic CD4-positive T-lymphocytopenia, diffuse idiopathic skeletal hyperostosis, basal ganglia calcification, idiopathic, childhood-onset, idiopathic spontaneous coronary artery dissection, edema, familial idiopathic, prepubertal, priapism, familial idiopathic, polyhydramnios, chronic idiopathic, intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, juvenile idiopathic arthritis, nonimmune chronic idiopathic neutropenia of adults, idiopathic aplastic anemia, tremor, hereditary essential, and idiopathic normal pressure hydrocephalus, idiopathic membranous glomerulonephritis, basal ganglia calcification, idiopathic, 4, basal ganglia calcification, idiopathic, 5, idiopathic CD4 lymphocytopenia, basal ganglia calcification, idiopathic, 6, idiopathic camptocormia, idiopathic acute transverse myelitis, idiopathic pulmonary artery dilatation, familial idiopathic dilatation of the right atrium, idiopathic central precocious puberty, idiopathic bilateral vestibulopathy, idiopathic eosinophilic pneumonia, idiopathic copper-associated cirrhosis, idiopathic recurrent pericarditis, idiopathic recurrent stupor, idiopathic anterior uveitis, idiopathic posterior uveitis, idiopathic panuveitis, idiopathic linear interstitial keratitis, idiopathic hypersomnia, idiopathic disseminated cytomegalovirus infection, idiopathic severe pneumococcemia, macular telangiectasia type 3, idiopathic nephrotic syndrome, persistent idiopathic facial pain, idiopathic avascular necrosis, idiopathic phalangeal acro-osteolysis, idiopathic dropped head syndrome, idiopathic neonatal atrial flutter, idiopathic ductopenia, idiopathic peliosis hepatis, idiopathic bronchiectasis, benign idiopathic neonatal seizures, myelodysplastic syndrome with ring sideroblasts, idiopathic malabsorption due to bile acid synthesis defects, idiopathic juvenile osteoporosis, idiopathic hemiconvulsion-hemiplegia syndrome, idiopathic localized lipodystrophy, idiopathic achalasia, idiopathic congenital hypothyroidism, acquired idiopathic inflammatory myopathy, idiopathic syringomyelia, diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, basal ganglia calcification, idiopathic, 1, basal ganglia calcification, idiopathic, 7, autosomal recessive, basal ganglia calcification, idiopathic, 8, autosomal recessive, idiopathic gastroparesis, idiopathic urticaria, recurrent idiopathic neuroretinitis, idiopathic torsion dystonia, idiopathic mast cell activation syndrome, idiopathic anaphylaxis, chronic idiopathic neuropathy, idiopathic hypercalciuria, sudden unexpected death in pediatrics, pediatric acute-onset neuropsychiatric syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.