Alsing syndrome

Summary

Alsing syndrome (MONDO:0021856) is a disease. A subtype of inherited kidney disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Alsing syndrome
Mondo ID	MONDO:0021856
MeSH	C536588
UMLS	C2931255
MedGen	444013
Is cancer (heuristic)	no

Also known as: atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inherited kidney disorder › Alsing syndrome

Related subtypes (25): familial juvenile hyperuricemic nephropathy, familial nephrotic syndrome, hereditary renal cell carcinoma, hereditary kidney oncocytoma, hereditary nephritis, inherited focal segmental glomerulosclerosis, prune belly syndrome, neurohypophyseal diabetes insipidus, fibronectin glomerulopathy, Liddle syndrome, familial renal glucosuria, nail-patella-like renal disease, renal tubular dysgenesis of genetic origin, proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis, nephrolithiasis, X-linked recessive, with renal failure, hypophosphatemic nephrolithiasis/osteoporosis 1, hypophosphatemic nephrolithiasis/osteoporosis 2, inherited renal tubular disease, renal agenesis, congenital anomaly of kidney and urinary tract, familial cystic renal disease, inherited pseudohypoaldosteronism, Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation, nephrolithiasis, calcium oxalate, inherited distal renal tubular acidosis

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.