Plasma protein metabolism disease

Summary

Plasma protein metabolism disease (MONDO:0002273) is a disease with 8 GWAS associations across 6 studies. A subtype of inborn errors of metabolism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	plasma protein metabolism disease
Mondo ID	MONDO:0002273
DOID	DOID:2345
UMLS	C3875058
MedGen	840208
GARD	0023105
Is cancer (heuristic)	no

Data availability: 8 GWAS associations (6 studies).

Disease family

This is a subtype of inborn errors of metabolism. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › plasma protein metabolism disease

Related subtypes (92): thiopurine metabolic disease, hypercalcemia, infantile, hypermanganesemia with dystonia, abdominal obesity-metabolic syndrome, inherited lipid metabolism disorder, lysosomal storage disease, striatonigral degeneration, inborn metal metabolism disorder, inborn vitamin metabolic disorder, chondrocalcinosis 2, Ehlers-Danlos syndrome, spondylodysplastic type, fish eye disease, aromatase excess syndrome, spondyloepiphyseal dysplasia with congenital joint dislocations, hypertriglyceridemia 1, autosomal dominant myoglobinuria, diastrophic dysplasia, hemolytic anemia due to diphosphoglycerate mutase deficiency, multiple epiphyseal dysplasia type 4, atelosteogenesis type II, inherited threoninemia, inborn glycerol kinase deficiency, achondrogenesis type IB, diabetes mellitus, noninsulin-dependent, 1, diabetes mellitus, noninsulin-dependent, 2, renal tubular acidosis, distal, 3, with or without sensorineural hearing loss, diabetes mellitus, noninsulin-dependent, 3, hypercholesterolemia, familial, 4, hypoalphalipoproteinemia, primary, 1, autosomal recessive proximal renal tubular acidosis, diabetes mellitus, noninsulin-dependent, 4, normophosphatemic familial tumoral calcinosis, apolipoprotein c-III deficiency, hypotonia-failure to thrive-microcephaly syndrome, chondrodysplasia with joint dislocations, gPAPP type, gluthathione peroxidase deficiency, congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, diabetes mellitus, noninsulin-dependent, 5, congenital disorder of glycosylation, monogenic diabetes, 2-hydroxyglutaric aciduria, familial hypoparathyroidism, familial intrahepatic cholestasis, inborn aminoacylase deficiency, disorder of lysosomal-related organelles, inborn disorder of porphyrin metabolism, disorder of metabolite absorption and transport, autosomal dominant proximal renal tubular acidosis, neurodegeneration with brain iron accumulation, ferro-cerebro-cutaneous syndrome, familial hypocalciuric hypercalcemia, hypophosphatasia, hereditary amyloidosis, peroxisomal disease, inborn disorder of amino acid and other organic acid metabolism, inborn carbohydrate metabolic disorder, inborn disorder of energy metabolism, inborn disorder of biogenic amine metabolism and transport, inborn disorder of purine or pyrimidine metabolism, spondyloepimetaphyseal dysplasia, PAPSS2 type, hereditary lipodystrophy, hereditary recurrent myoglobinuria, DNA repair disease, 4-hydroxyphenylacetic aciduria, 5-nucleotidase syndrome, antigen-peptide-transporter 2 deficiency, APO A-i deficiency, cardiomyopathy hypogonadism metabolic anomalies, deficiency of coenzyme q cytochrome c reductase, defective apolipoprotein b-100, sulfide quinone oxidoreductase deficiency, congenital disorder of deglycosylation, hypoalphalipoproteinemia, primary, 2, uridine-cytidineuria, NAD(P)HX dehydratase deficiency, inborn disorder of aspartate family metabolism, weinstein kliman scully syndrome, glycoprotein metabolism disease, inherited thyroid metabolism disease, tumoral calcinosis, hyperphosphatemic, familial, 2, tumoral calcinosis, hyperphosphatemic, familial, 3, combined ApoA-I and ApoC-III deficiency, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome, tumoral calcinosis, hyperphosphatemic, familial, 1, Waldenstrom macroglobulinemia, mucopolysaccharidosis or mucopolysaccharidosis-like disorder, disorder of peptide and amine metabolism, CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis, Lane Hamilton syndrome, SQSTM1-related multisystem proteinopathy, hypertriglyceridemia 2, autosomal dominant dopa-responsive dystonia

Subtypes (3): polyclonal hypergammaglobulinemia, monoclonal paraproteinemia disease, alpha 1-antitrypsin deficiency

Genetics & variants

GWAS landscape

8 GWAS associations across 6 studies. Top hits map to 2 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs112635299	4e-88	SERPINA2 - SERPINA1	G	0.96
rs117972357	1e-25	LINC02318	G	1.68
chr6:483593	4e-18		A	0.55
rs116446171	2e-15	IRF4 - EXOC2	C	0.42
rs34562254	4e-15	TNFRSF13B	G	0.18
chr4:124628331	1e-09		?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475709	Verma A	2024	5,439	441,788	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477376	Verma A	2024	2,497	117,850	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479920	Verma A	2024	2,497	117,850	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477375	Verma A	2024	515	58,968	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435747	Zhou W	2018	364	408,230	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651315	Liu TY	2025	234	232,428	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	5

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	3
rare (<0.01)	1
unknown	1

Functional consequences

Consequence	Count
intron_variant	2
unknown	2
intergenic_variant	1
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs112635299	14	94371805	G>A,C,T	0.014	intron_variant	SERPINA2 - SERPINA1	4e-88	Tier 4: intronic/intergenic
rs117972357	14	95577209	G>A	0.002	intron_variant	LINC02318	1e-25	Tier 4: intronic/intergenic
chr6:483593				0.021			4e-18	Tier 4: intronic/intergenic
rs116446171	6	484453	C>G	0.023	intergenic_variant	IRF4 - EXOC2	2e-15	Tier 4: intronic/intergenic
rs34562254	17	16939677	G>A	0.112	missense_variant	TNFRSF13B	4e-15	Tier 1: coding
chr4:124628331							1e-09	Tier 4: intronic/intergenic

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.