Inborn disorder of serine family metabolism

Summary

Inborn disorder of serine family metabolism (MONDO:0019239) is a disease. A subtype of inborn disorder of amino acid and other organic acid metabolism — 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	inborn disorder of serine family metabolism
Mondo ID	MONDO:0019239
Orphanet	79194
UMLS	C5681286
MedGen	1842840
GARD	0018968
Is cancer (heuristic)	no

Also known as: inborn disorder of serine or glycine metabolism · inborn error of serine family amino acid metabolic process · inborn serine family amino acid metabolic process disorder · rare inborn error of serine family amino acid metabolic process

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn disorder of amino acid and other organic acid metabolism › inborn disorder of serine family metabolism

Related subtypes (12): inborn disorder of amino acid metabolism, pyruvate metabolism disorder, inborn disorder of lysine and hydroxylysine metabolism, disorder of glutamine metabolism, disorder of beta and omega amino acid metabolism, disorder of melanin metabolism, inborn disorder of bile acid synthesis, inborn disorder of methionine cycle and sulfur amino acid metabolism, inborn disorder of ornithine or proline metabolism, inborn disorder of the gamma-glutamyl cycle, inborn error of biotin metabolism, inherited fatty acid metabolism disorder

Subtypes (3): glycine encephalopathy, neurometabolic disorder due to serine deficiency, inborn disorder of glycine and serine metabolism

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.