Disorder of fatty acid and ketone body metabolism

Summary

Disorder of fatty acid and ketone body metabolism (MONDO:0019223) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	disorder of fatty acid and ketone body metabolism
Mondo ID	MONDO:0019223
Orphanet	79174
UMLS	C5681281
MedGen	1842462
GARD	0018954
Is cancer (heuristic)	no

Also known as: inborn disorder of fatty acid oxidation and ketone body metabolism

Data availability: 1 GenCC gene-disease record.

Disease family

An umbrella term covering 4 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 energy metabolism › disorder of fatty acid and ketone body metabolism

Related subtypes (5): cerebral creatine deficiency syndrome, disorder of glycogen metabolism, inborn mitochondrial metabolism disorder, pyruvate metabolism disorder, tricarboxylic acid cycle disorder

Subtypes (4): ketoacidosis due to monocarboxylate transporter-1 deficiency, disorder of fatty acid oxidation and ketogenesis, disorder of carnitine cycle and carnitine transport, inborn disorder of ketolysis

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

Mendelian disease overlap and somatic drivers

GenCC: 11 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
SLC16A1	Limited	Autosomal dominant	disorder of fatty acid and ketone body metabolism	11

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SLC16A1	Orphanet:165991	Exercise-induced hyperinsulinism
SLC16A1	Orphanet:171690	Metabolic myopathy due to lactate transporter defect
SLC16A1	Orphanet:438075	Ketoacidosis due to monocarboxylate transporter-1 deficiency

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SLC16A1	HGNC:10922	ENSG00000155380	P53985	Monocarboxylate transporter 1	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SLC16A1	Monocarboxylate transporter 1	Bidirectional proton-coupled monocarboxylate transporter.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transporter	1	77.8×	0.013

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SLC16A1	Transporter	yes		MCT, MFS, MFS_dom

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
adrenal tissue	1
mucosa of transverse colon	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SLC16A1	134	ubiquitous	marker	mucosa of transverse colon, ventricular zone, adrenal tissue

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SLC16A1	2,296

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SLC16A1	P53985	6

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 13. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)	1	5710.0×	0.002	SLC16A1
Proton-coupled monocarboxylate transport	1	1903.3×	0.003	SLC16A1
Basigin interactions	1	439.2×	0.010	SLC16A1
Aspirin ADME	1	317.2×	0.010	SLC16A1
Drug ADME	1	228.4×	0.010	SLC16A1
SLC transporter disorders	1	203.9×	0.010	SLC16A1
R-HSA-425366	1	181.3×	0.010	SLC16A1
Disorders of transmembrane transporters	1	139.3×	0.012	SLC16A1
Cell surface interactions at the vascular wall	1	95.2×	0.015	SLC16A1
SLC-mediated transmembrane transport	1	59.2×	0.022	SLC16A1
Hemostasis	1	36.0×	0.033	SLC16A1
Transport of small molecules	1	25.1×	0.043	SLC16A1
Disease	1	13.1×	0.076	SLC16A1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
mevalonate transport	1	16852.0×	4e-04	SLC16A1
behavioral response to nutrient	1	16852.0×	4e-04	SLC16A1
pyruvate transmembrane transport	1	5617.3×	7e-04	SLC16A1
plasma membrane lactate transport	1	4213.0×	7e-04	SLC16A1
succinate transmembrane transport	1	4213.0×	7e-04	SLC16A1
carboxylic acid transmembrane transport	1	2808.7×	8e-04	SLC16A1
pyruvate catabolic process	1	2106.5×	9e-04	SLC16A1
monocarboxylic acid transport	1	1532.0×	0.001	SLC16A1
response to food	1	495.6×	0.003	SLC16A1
regulation of insulin secretion	1	391.9×	0.004	SLC16A1
centrosome cycle	1	337.0×	0.004	SLC16A1
transport across blood-brain barrier	1	179.3×	0.007	SLC16A1
glucose homeostasis	1	130.6×	0.008	SLC16A1
lipid metabolic process	1	91.6×	0.011	SLC16A1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SLC16A1	3	2

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
SYROSINGOPINE	2	SLC16A1
LUTEOLIN	2	SLC16A1
AZD3965	1	SLC16A1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
SLC16A1	52	Binding:49, Functional:3

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

3 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
SYROSINGOPINE	2	SLC16A1
LUTEOLIN	2	SLC16A1
AZD3965	1	SLC16A1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	1	SLC16A1
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.