BIVM

Summary

BIVM (basic, immunoglobulin-like variable motif containing, HGNC:16034) is a protein-coding gene on chromosome 13q33.1, encoding Basic immunoglobulin-like variable motif-containing protein (Q86UB2).

Predicted to enable DNA endonuclease activity and single-stranded DNA binding activity. Predicted to be involved in DNA metabolic process. Located in extracellular space.

Source: NCBI Gene 54841 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 29 total — 4 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_017693

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16034
Approved symbol	BIVM
Name	basic, immunoglobulin-like variable motif containing
Location	13q33.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20159
Ensembl gene	ENSG00000134897
Ensembl biotype	protein_coding
OMIM	619006
Entrez	54841

Gene structure

Transcript identifiers

Ensembl transcripts: 70 — 60 protein_coding, 5 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000257336, ENST00000448849, ENST00000474443, ENST00000481069, ENST00000490317, ENST00000491929, ENST00000651008, ENST00000651048, ENST00000651228, ENST00000651808, ENST00000651855, ENST00000651949, ENST00000652006, ENST00000652084, ENST00000652643, ENST00000652766, ENST00000909441, ENST00000909442, ENST00000909443, ENST00000909444, ENST00000909445, ENST00000909446, ENST00000909447, ENST00000909448, ENST00000909449, ENST00000909450, ENST00000909451, ENST00000909452, ENST00000909453, ENST00000909454, ENST00000909455, ENST00000909456, ENST00000909457, ENST00000909458, ENST00000909459, ENST00000909460, ENST00000909461, ENST00000909462, ENST00000909463, ENST00000909464, ENST00000909465, ENST00000909466, ENST00000909467, ENST00000909468, ENST00000909469, ENST00000909470, ENST00000909471, ENST00000918727, ENST00000918728, ENST00000918729, ENST00000918730, ENST00000918731, ENST00000918732, ENST00000918733, ENST00000962128, ENST00000962129, ENST00000962130, ENST00000962131, ENST00000962132, ENST00000962133, ENST00000962134, ENST00000962135, ENST00000962136, ENST00000962137, ENST00000962138, ENST00000962139, ENST00000962140, ENST00000962141, ENST00000962142, ENST00000962143

RefSeq mRNA: 2 — MANE Select: NM_017693 NM_001159596, NM_017693

CCDS: CCDS53879, CCDS9505

Canonical transcript exons

ENST00000257336 — 11 exons

Exon	Start	End
ENSE00001224347	102839572	102841533
ENSE00001370952	102799119	102799521
ENSE00001381074	102805307	102805390
ENSE00002316723	102807146	102807745
ENSE00003471807	102838643	102838739
ENSE00003480959	102822065	102822159
ENSE00003516453	102821743	102821847
ENSE00003550235	102821037	102821132
ENSE00003588928	102834466	102834552
ENSE00003605795	102816428	102816554
ENSE00003638954	102831565	102831697

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 93.65.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3107 / max 9.9242, expressed in 134 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
135928	6.0895	1591
135929	0.3107	134

Top tissues by expression

263 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	93.65	gold quality
tibialis anterior	UBERON:0001385	92.51	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.44	gold quality
tendon of biceps brachii	UBERON:0008188	91.64	gold quality
ileal mucosa	UBERON:0000331	91.28	gold quality
cerebellar hemisphere	UBERON:0002245	91.17	gold quality
cerebellar cortex	UBERON:0002129	91.15	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.82	gold quality
metanephros cortex	UBERON:0010533	90.74	gold quality
cortical plate	UBERON:0005343	90.66	gold quality
cerebellum	UBERON:0002037	90.47	gold quality
kidney epithelium	UBERON:0004819	89.84	gold quality
tendon	UBERON:0000043	88.89	gold quality
stromal cell of endometrium	CL:0002255	88.74	gold quality
cortex of kidney	UBERON:0001225	88.70	gold quality
body of pancreas	UBERON:0001150	88.47	gold quality
cardiac atrium	UBERON:0002081	87.86	gold quality
right atrium auricular region	UBERON:0006631	87.72	gold quality
muscle of leg	UBERON:0001383	87.67	gold quality
ganglionic eminence	UBERON:0004023	87.56	gold quality
embryo	UBERON:0000922	87.55	gold quality
deltoid	UBERON:0001476	87.53	silver quality
gastrocnemius	UBERON:0001388	87.48	gold quality
endometrium	UBERON:0001295	87.10	gold quality
muscle organ	UBERON:0001630	87.04	gold quality
skeletal muscle organ	UBERON:0014892	87.04	gold quality
heart left ventricle	UBERON:0002084	87.00	gold quality
calcaneal tendon	UBERON:0003701	87.00	gold quality
right lobe of liver	UBERON:0001114	86.91	gold quality
smooth muscle tissue	UBERON:0001135	86.84	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

98 targeting BIVM, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-3065-3P	99.87	70.25	1407

Literature-anchored findings (GeneRIF, showing 1)

• Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role. (PMID:36757497)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	bivm	ENSDARG00000061409
mus_musculus	Ercc5	ENSMUSG00000026048
mus_musculus	Bivm	ENSMUSG00000041684
rattus_norvegicus	Ercc5	ENSRNOG00000022812
rattus_norvegicus	Bivm	ENSRNOG00000022894

Paralogs (1): ERCC5 (ENSG00000134899)

Protein

Protein identifiers

Basic immunoglobulin-like variable motif-containing protein — Q86UB2 (reviewed: Q86UB2)

All UniProt accessions (8): A0A494BZX4, A0A494C000, A0A494C0D0, A0A494C0F9, A0A494C0L8, A0A494C1A7, A0A494C1S8, Q86UB2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Widely expressed. Expressed at higher level in spleen, ovary, small intestine, colon, peripheral blood leukocytes and liver. Also expressed in testis, ovary, aorta, appendix, trachea, pituitary gland, bladder, uterus, spinal cord, salivary gland, stomach, mammary gland and bone marrow. Weakly or not expressed in fetal spleen, adult thymus and certain cancer cell lines.

Similarity. Belongs to the BIVM family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86UB2-1	1	yes
Q86UB2-2	2

RefSeq proteins (2): NP_001153068, NP_060163* (*=MANE)

Domains & families (InterPro)

UniProt features (10 total): region of interest 3, compositionally biased region 3, splice variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86UB2-F1	66.50	0.43

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 120 (showing top): GOMF_ENDONUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, TTTGTAG_MIR520D, MODULE_239, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, AGCTCCT_MIR28, GOMF_DNA_ENDONUCLEASE_ACTIVITY, GOMF_SINGLE_STRANDED_DNA_BINDING, SANSOM_APC_MYC_TARGETS, SANSOM_APC_TARGETS_REQUIRE_MYC, GOBP_DNA_METABOLIC_PROCESS, GEORGES_TARGETS_OF_MIR192_AND_MIR215, MODULE_533, HORIUCHI_WTAP_TARGETS_UP, MIKKELSEN_ES_ICP_WITH_H3K4ME3

GO Biological Process (1): DNA metabolic process (GO:0006259)

GO Molecular Function (3): single-stranded DNA binding (GO:0003697), DNA endonuclease activity (GO:0004520), protein binding (GO:0005515)

GO Cellular Component (3): obsolete extracellular space (GO:0005615), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleic acid metabolic process	1
DNA binding	1
endonuclease activity	1
DNA nuclease activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1956 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BIVM	POGLUT2	Q6UW63	541
BIVM	FAM199X	Q6PEV8	507
BIVM	TEX9	Q8N6V9	424
BIVM	LRRC23	Q53EV4	409
BIVM	WDR27	A2RRH5	408
BIVM	RGPD1	P0C839	394
BIVM	LRRC74A	Q0VAA2	393
BIVM	NAXD	Q8IW45	384
BIVM	LRRC34	Q8IZ02	374
BIVM	DEF8	Q6ZN54	369
BIVM	TMTC3	Q6ZXV5	356
BIVM	ERCC4	Q92889	356
BIVM	CRYBB3	P26998	353
BIVM	NALCN	Q8IZF0	353
BIVM	A0A2R8YFG2	A0A2R8YFG2	353
BIVM	EXOSC10	Q01780	353
BIVM	COL9A3	Q14050	353

IntAct

33 interactions, top by confidence:

A	B	Type	Score
TRIM26	BIVM	psi-mi:“MI:0915”(physical association)	0.560
TRAF3	BIVM	psi-mi:“MI:0915”(physical association)	0.560
SPANXN2	BIVM	psi-mi:“MI:0915”(physical association)	0.560
	BIVM	psi-mi:“MI:0915”(physical association)	0.560
BIVM	L3MBTL2	psi-mi:“MI:0915”(physical association)	0.560
BIVM	TRIM41	psi-mi:“MI:0915”(physical association)	0.560
BIVM	PPIL6	psi-mi:“MI:0915”(physical association)	0.560
BAZ2B	BIVM	psi-mi:“MI:0915”(physical association)	0.560
LMO1	BIVM	psi-mi:“MI:0915”(physical association)	0.560
BIVM	TRAF3	psi-mi:“MI:0915”(physical association)	0.000
SPANXN2	BIVM	psi-mi:“MI:0915”(physical association)	0.000
BIVM		psi-mi:“MI:0915”(physical association)	0.000
TRIM41	BIVM	psi-mi:“MI:0915”(physical association)	0.000
PPIL6	BIVM	psi-mi:“MI:0915”(physical association)	0.000
BAZ2B	BIVM	psi-mi:“MI:0915”(physical association)	0.000
LMO1	BIVM	psi-mi:“MI:0915”(physical association)	0.000
L3MBTL2	BIVM	psi-mi:“MI:0915”(physical association)	0.000
TRAF3	BIVM	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): BIVM (Two-hybrid), BIVM (Two-hybrid), BIVM (Two-hybrid), TRIM41 (Two-hybrid), LMO1 (Two-hybrid), PPIL6 (Two-hybrid), HOMEZ (Two-hybrid), TRIM26 (Two-hybrid), SPANXN2 (Two-hybrid), BIVM (Affinity Capture-MS), BIVM (Cross-Linking-MS (XL-MS)), BIVM (Cross-Linking-MS (XL-MS)), BIVM (Cross-Linking-MS (XL-MS)), BIVM (Affinity Capture-RNA)

ESM2 similar proteins: A0A2R6W1B1, A0FKI7, A2XC52, A2XTW9, A2Y0Q2, B8AMA8, B8B8I3, F4I9G2, O94972, P07106, P20067, P41135, P85828, Q5EAE9, Q5EAH9, Q5R7V3, Q5T8D3, Q5XEM9, Q5XG73, Q5XI67, Q6EPZ2, Q6GPE9, Q6IE24, Q6PCX9, Q70EL1, Q75IR6, Q76N89, Q7XUW3, Q84TV4, Q86UB2, Q8BJL1, Q8BL06, Q8CBX9, Q8H383, Q8H8C6, Q8K3A6, Q8K4P8, Q8LA16, Q8TB52, Q96S38

Diamond homologs: Q0V9T8, Q3KPR5, Q86UB2, Q8CBX9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

29 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	18
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
144504	GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3	Pathogenic
150092	GRCh38/hg38 13q32.3-33.2(chr13:101095590-105074548)x1	Pathogenic
2424668	NC_000013.10:g.(?102521055)(103718599_?)del	Pathogenic
815612	GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1	Pathogenic
443022	GRCh37/hg19 13q32.2-33.1(chr13:98607855-104370539)x3	Likely pathogenic

SpliceAI

2323 predictions. Top by Δscore:

Variant	Effect	Δscore
13:102807745:GGTA:G	donor_loss	1.0000
13:102807746:G:T	donor_loss	1.0000
13:102807747:T:A	donor_loss	1.0000
13:102816532:A:T	donor_gain	1.0000
13:102821128:GGAAA:G	donor_gain	1.0000
13:102821129:GAAA:G	donor_gain	1.0000
13:102821129:GAAAG:G	donor_gain	1.0000
13:102821130:A:T	donor_gain	1.0000
13:102821133:G:GG	donor_gain	1.0000
13:102834547:TAAA:T	donor_gain	1.0000
13:102834548:AAAA:A	donor_gain	1.0000
13:102834549:AAAA:A	donor_gain	1.0000
13:102834553:G:GG	donor_gain	1.0000
13:102816422:TTCTA:T	acceptor_loss	0.9900
13:102816423:TCTA:T	acceptor_loss	0.9900
13:102816423:TCTAG:T	acceptor_loss	0.9900
13:102816425:TAG:T	acceptor_loss	0.9900
13:102816425:TAGGC:T	acceptor_loss	0.9900
13:102816426:A:AG	acceptor_gain	0.9900
13:102816426:A:T	acceptor_loss	0.9900
13:102816427:G:GA	acceptor_loss	0.9900
13:102816427:G:GG	acceptor_gain	0.9900
13:102816427:G:GT	acceptor_loss	0.9900
13:102816427:GGC:G	acceptor_gain	0.9900
13:102816427:GGCA:G	acceptor_gain	0.9900
13:102816476:G:T	donor_gain	0.9900
13:102816561:T:G	donor_gain	0.9900
13:102821130:AAAGT:A	donor_loss	0.9900
13:102821131:AA:A	donor_gain	0.9900
13:102821131:AAG:A	donor_loss	0.9900

AlphaMissense

3299 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:102821813:T:C	F258L	1.000
13:102821815:T:A	F258L	1.000
13:102821815:T:G	F258L	1.000
13:102822066:T:A	W270R	1.000
13:102822066:T:C	W270R	1.000
13:102831627:C:G	H322D	1.000
13:102831639:C:G	H326D	1.000
13:102838644:T:A	W375R	1.000
13:102838644:T:C	W375R	1.000
13:102807688:T:A	W141R	0.999
13:102807688:T:C	W141R	0.999
13:102821047:A:C	S206R	0.999
13:102821049:C:A	S206R	0.999
13:102821049:C:G	S206R	0.999
13:102821075:G:A	G215D	0.999
13:102821098:T:A	W223R	0.999
13:102821098:T:C	W223R	0.999
13:102821786:T:C	F249L	0.999
13:102821787:T:C	F249S	0.999
13:102821788:T:A	F249L	0.999
13:102821788:T:G	F249L	0.999
13:102821814:T:C	F258S	0.999
13:102821817:G:A	G259D	0.999
13:102821822:T:C	F261L	0.999
13:102821824:C:A	F261L	0.999
13:102821824:C:G	F261L	0.999
13:102821828:G:T	G263W	0.999
13:102821829:G:A	G263E	0.999
13:102821829:G:T	G263V	0.999
13:102821833:T:A	N264K	0.999

dbSNP variants (sampled 300 via entrez): RS1000029057 (13:102820969 G>A), RS1000041867 (13:102826495 CCTAA>C), RS1000055182 (13:102833537 G>C), RS1000108280 (13:102840564 G>T), RS1000152944 (13:102797996 A>G), RS1000173440 (13:102800346 G>C), RS1000209682 (13:102803685 A>G), RS1000240691 (13:102803373 C>T), RS1000271456 (13:102834403 A>G), RS1000289572 (13:102800108 G>A), RS1000292440 (13:102819956 C>A), RS1000390431 (13:102809396 C>G), RS1000414147 (13:102815822 G>C), RS1000472297 (13:102805818 T>C), RS1000519559 (13:102815588 T>A)

Disease associations

OMIM: gene MIM:619006 | disease phenotypes: MIM:606054, MIM:609637

GenCC curated gene-disease

Mondo (2): propionic acidemia (MONDO:0011628), holoprosencephaly 5 (MONDO:0012322)

Orphanet (2): Holoprosencephaly (Orphanet:2162), Propionic acidemia (Orphanet:35)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D056693	Propionic Acidemia	C16.320.565.100.823; C18.452.648.100.823
C566464	Holoprosencephaly 5 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

45 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
trichostatin A	affects cotreatment, increases expression	2
Acetaminophen	decreases expression	2
Cyclosporine	decreases expression	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	decreases expression, increases abundance, affects cotreatment	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
diallyl trisulfide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
dorsomorphin	increases expression, affects cotreatment	1
bisphenol S	affects cotreatment, decreases expression	1
NSC 689534	decreases expression, affects binding	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Zoledronic Acid	decreases expression	1
Acrolein	increases abundance, affects cotreatment, decreases expression	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Ethanol	decreases expression	1
Arsenic	increases methylation	1
Carbamazepine	affects expression	1
Copper	affects binding, decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	increases expression	1

Clinical trials (associated diseases)

19 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02426775	PHASE3	COMPLETED	Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia
NCT01341379	PHASE2	WITHDRAWN	Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
NCT01597440	PHASE2	TERMINATED	Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
NCT04732429	PHASE2	TERMINATED	Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia
NCT00645879	PHASE1	COMPLETED	Anaplerotic Therapy in Propionic Acidemia
NCT04836494	PHASE1	TERMINATED	A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia
NCT04159103	PHASE1/PHASE2	RECRUITING	Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia
NCT05130437	PHASE1/PHASE2	RECRUITING	A Study to Assess the Long-term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 Study
NCT02890342	Not specified	RECRUITING	Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
NCT03159026	Not specified	COMPLETED	Review of Charts From Amish/Mennonite Variant PA Patients
NCT03484767	Not specified	COMPLETED	The MaP Study: Mapping the Patient Journey in MMA and PA
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04176523	Not specified	RECRUITING	Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach
NCT05040178	Not specified	RECRUITING	An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
NCT05330039	Not specified	COMPLETED	Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)
NCT05438485	Not specified	TERMINATED	Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT05769621	Not specified	RECRUITING	A Retrospective Study to Characterize Participants With Propionic Acidemia
NCT06664840	Not specified	NOT_YET_RECRUITING	MyRareDiet A Novel Diet Tracking Tool