GDF1

Summary

GDF1 (growth differentiation factor 1, HGNC:4214) is a protein-coding gene on chromosome 19p13.11, encoding Embryonic growth/differentiation factor 1 (P27539). May mediate cell differentiation events during embryonic development.

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations.

Source: NCBI Gene 2657 — RefSeq curated summary.

At a glance

• Gene–disease (curated): right atrial isomerism (Strong, GenCC) — +2 more curated relationships
• Clinical variants (ClinVar): 48 total — 2 pathogenic
• Phenotypes (HPO): 39
• MANE Select transcript: NM_001492

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4214
Approved symbol	GDF1
Name	growth differentiation factor 1
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000130283
Ensembl biotype	protein_coding
OMIM	602880
Entrez	2657

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000247005

RefSeq mRNA: 2 — MANE Select: NM_001492 NM_001387438, NM_001492

CCDS: CCDS42526

Canonical transcript exons

ENST00000247005 — 8 exons

Exon	Start	End
ENSE00003216808	18895824	18896158
ENSE00003487192	18878930	18879039
ENSE00003514787	18868545	18869390
ENSE00003596244	18869983	18870619
ENSE00003605222	18893416	18893575
ENSE00003623667	18880274	18880435
ENSE00003634351	18884087	18884267
ENSE00003662986	18879241	18879388

Expression profiles

Bgee: expression breadth broad, 34 present calls, max score 64.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.0664 / max 340.4213, expressed in 983 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180104	11.0664	983
180105	1.2490	464

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primary visual cortex	UBERON:0002436	64.32	gold quality
sural nerve	UBERON:0015488	62.40	silver quality
superior frontal gyrus	UBERON:0002661	61.19	gold quality
ganglionic eminence	UBERON:0004023	51.90	gold quality
skeletal muscle tissue	UBERON:0001134	44.86	gold quality
cortical plate	UBERON:0005343	43.03	gold quality
colonic epithelium	UBERON:0000397	41.50	gold quality
muscle tissue	UBERON:0002385	39.50	gold quality
prefrontal cortex	UBERON:0000451	38.98	gold quality
hindlimb stylopod muscle	UBERON:0004252	38.44	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
frontal cortex	UBERON:0001870	32.29	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
tonsil	UBERON:0002372	31.69	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.66	gold quality
duodenum	UBERON:0002114	28.14	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
cerebral cortex	UBERON:0000956	27.23	gold quality
Brodmann (1909) area 9	UBERON:0013540	26.62	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
pancreas	UBERON:0001264	25.86	gold quality
placenta	UBERON:0001987	25.83	gold quality
muscle of leg	UBERON:0001383	25.82	gold quality
blood	UBERON:0000178	25.73	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 13)

• Heterozygous loss-of-function mutations in the human GDF1 gene contribute to cardiac defects ranging from tetralogy of Fallot to transposition of the great arteries. (PMID:17924340)
• GDF1 expression is correlated with progression and aggressive behaviors in cervical cancer, suggesting a tumor-promoting role for GDF1 in the progression of this malignancy. (PMID:19359031)
• Molecular genetic basis of a kindred with 5 siblings with right atrial isomerism involved mutations in GDF1. (PMID:20413652)
• GDF1 may be associated with congenital heart defects risk, and these variations contribute at least in part to the development of some subtypes of conotruncal defects in the Chinese Han population. (PMID:23076529)
• indicate that the expression of growth/differentiation factor 1 (GDF1) is up-regulated in human dilated cardiomyopathy (DCM)hearts and murine hypertrophic hearts. (PMID:24275554)
• This implies that Gdf1 potentiates Nodal activity by stabilizing a low molecular weight fraction that is susceptible to neutralization by soluble Acvr2. (PMID:24798330)
• Our results suggest that the GDF1 rs4808863 polymorphism contributes to an increased risk of fetal CHDs, especially the subtypes of AVSD, LVOTO and left-right laterality defects. (PMID:26656983)
• Rare inherited and de novo variants in 2,871 congenital heart disease probands identified GDF1, MYH6, and FLT4 as causative genes. (PMID:28991257)
• Nkx2.5 acts upstream of GDF1 and the genetic variants in GDF1 promoter may confer genetic susceptibility to sporadic CHD potentially by altering its expression. (PMID:31171573)
• A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds. (PMID:32144877)
• Arsenic suppresses GDF1 expression via ROS-dependent downregulation of specificity protein 1. (PMID:33360347)
• Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families. (PMID:35351224)
• Human colorectal cancer: upregulation of the adaptor protein Rai in TILs leads to cell dysfunction by sustaining GSK-3 activation and PD-1 expression. (PMID:38175205)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gdf1	ENSMUSG00000109523

Paralogs (31): TGFB2 (ENSG00000092969), BMP7 (ENSG00000101144), TGFB1 (ENSG00000105329), BMP5 (ENSG00000112175), BMP8B (ENSG00000116985), TGFB3 (ENSG00000119699), INHBA (ENSG00000122641), INHA (ENSG00000123999), BMP4 (ENSG00000125378), BMP2 (ENSG00000125845), GDF5 (ENSG00000125965), BMP15 (ENSG00000130385), GDF15 (ENSG00000130513), GDF11 (ENSG00000135414), MSTN (ENSG00000138379), INHBE (ENSG00000139269), LEFTY2 (ENSG00000143768), GDF7 (ENSG00000143869), BMP3 (ENSG00000152785), BMP6 (ENSG00000153162), GDF6 (ENSG00000156466), NODAL (ENSG00000156574), INHBB (ENSG00000163083), BMP10 (ENSG00000163217), GDF9 (ENSG00000164404), INHBC (ENSG00000175189), BMP8A (ENSG00000183682), GDF3 (ENSG00000184344), LEFTY1 (ENSG00000243709), GDF2 (ENSG00000263761), GDF10 (ENSG00000266524)

Protein

Protein identifiers

Embryonic growth/differentiation factor 1 — P27539 (reviewed: P27539)

All UniProt accessions (1): P27539

UniProt curated annotations — full annotation on UniProt →

Function. May mediate cell differentiation events during embryonic development.

Subunit / interactions. Homodimer; disulfide-linked.

Subcellular location. Secreted.

Tissue specificity. Expressed in the brain.

Disease relevance. Conotruncal heart malformations (CTHM) [MIM:217095] A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. The disease is caused by variants affecting the gene represented in this entry. Congenital heart defects, multiple types, 6 (CHTD6) [MIM:613854] An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect, and hypoplastic left or right ventricle. The disease is caused by variants affecting the gene represented in this entry. Tetralogy of Fallot (TOF) [MIM:187500] A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. The disease is caused by variants affecting the gene represented in this entry. Right atrial isomerism (RAI) [MIM:208530] A severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. This protein is produced by a bicistronic gene which also produces the CERS1 protein from a non-overlapping reading frame.

Similarity. Belongs to the TGF-beta family.

RefSeq proteins (2): NP_001374367, NP_001483* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001839	TGF-b_C	Domain
IPR015615	TGF-beta-like	Family
IPR017948	TGFb_CS	Conserved_site
IPR029034	Cystine-knot_cytokine	Homologous_superfamily

Pfam: PF00019

UniProt features (20 total): sequence variant 11, disulfide bond 4, signal peptide 1, propeptide 1, chain 1, region of interest 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P27539-F1	74.44	0.21

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (4): 267–337, 296–369, 300–371, 336

Glycosylation sites (1): 206

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1181150	Signaling by NODAL

MSigDB gene sets: 133 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOMF_GROWTH_FACTOR_ACTIVITY, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ENDODERM_DEVELOPMENT, GOBP_RESPONSE_TO_BMP, GOBP_RESPONSE_TO_GROWTH_FACTOR, GOMF_CYTOKINE_ACTIVITY, VDR_Q3, LEF1_Q6, GOBP_EMBRYO_DEVELOPMENT, GOBP_MESODERM_DEVELOPMENT, GOMF_SIGNALING_RECEPTOR_BINDING, RAAGNYNNCTTY_UNKNOWN

GO Biological Process (6): in utero embryonic development (GO:0001701), endoderm development (GO:0007492), mesoderm development (GO:0007498), BMP signaling pathway (GO:0030509), regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092), signal transduction (GO:0007165)

GO Molecular Function (2): cytokine activity (GO:0005125), growth factor activity (GO:0008083)

GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
tissue development	2
receptor ligand activity	2
chordate embryonic development	1
cellular response to BMP stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
cell surface receptor protein serine/threonine kinase signaling pathway	1
regulation of signal transduction	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1062 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GDF1	CERS2	Q96G23	934
GDF1	ACVR1C	Q8NER5	883
GDF1	CERS4	Q9HA82	883
GDF1	CERS6	Q6ZMG9	876
GDF1	CRIPTO	P13385	868
GDF1	CFC1	P0CG37	861
GDF1	CERS5	Q8N5B7	796
GDF1	CERS3	Q8IU89	785
GDF1	ACVR2A	P27037	781
GDF1	MED13L	Q71F56	739
GDF1	SPTLC2	O15270	720
GDF1	SPTLC1	O15269	720
GDF1	SPTLC3	Q9NUV7	720
GDF1	ACVR2B	Q13705	716
GDF1	NKX2-6	A6NCS4	693

IntAct

2 interactions, top by confidence:

A	B	Type	Score
GDF1	HTR4	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (2): GDF1 (Two-hybrid), GDF1 (Affinity Capture-MS)

ESM2 similar proteins: A0A061IR73, A6H687, A6NKF1, D3KCC4, E1BD59, G3MY25, G3MZC5, O00634, O75064, P0C5W1, P20863, P27539, P52824, P54777, Q002B5, Q08DM2, Q0VCE3, Q13608, Q17RN3, Q2TBW5, Q3U0S6, Q4VYA0, Q53EQ6, Q561R2, Q568Y2, Q5BK61, Q5JR98, Q5RE82, Q5U651, Q6F5E8, Q6NY19, Q6ZS72, Q8BH83, Q8C052, Q8CDY7, Q8VIM9, Q8WZA9, Q90343, Q90ZN1, Q92985

Diamond homologs: A1C2U3, A1C2U6, A1C2U7, A1C2V0, A1C2V5, A8E7N9, G5EEL5, O08689, O14793, O18828, O18830, O18831, O18836, O35312, O42220, O42221, O42222, O46576, O61643, O95390, O95393, P09534, P12644, P12645, P17491, P18075, P20722, P20863, P22003, P22004, P22444, P23359, P27091, P27539, P35621, P43026, P43027, P43028, P43029, P48970

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	22
Likely benign	20
Benign	4

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1453078	NM_001492.6(GDF1):c.626G>A (p.Trp209Ter)	Pathogenic
183023	NM_021267.5(CERS1):c.549C>G (p.His183Gln)	Pathogenic

SpliceAI

1535 predictions. Top by Δscore:

Variant	Effect	Δscore
19:18878928:A:AC	donor_gain	1.0000
19:18878929:C:CC	donor_gain	1.0000
19:18878929:CT:C	donor_gain	1.0000
19:18878929:CTCGG:C	donor_gain	1.0000
19:18879035:ATGTA:A	acceptor_gain	1.0000
19:18879036:TGTA:T	acceptor_gain	1.0000
19:18879038:TA:T	acceptor_gain	1.0000
19:18879039:AC:A	acceptor_loss	1.0000
19:18879039:ACT:A	acceptor_loss	1.0000
19:18879040:C:CC	acceptor_gain	1.0000
19:18879040:CTG:C	acceptor_loss	1.0000
19:18879237:TCA:T	donor_loss	1.0000
19:18879237:TCACC:T	donor_loss	1.0000
19:18879238:CACCA:C	donor_loss	1.0000
19:18879239:A:AC	donor_gain	1.0000
19:18879239:ACCAG:A	donor_loss	1.0000
19:18879240:C:CC	donor_gain	1.0000
19:18879240:C:G	donor_loss	1.0000
19:18879387:ACCTG:A	acceptor_loss	1.0000
19:18880266:CCA:C	donor_gain	1.0000
19:18880269:CTCA:C	donor_loss	1.0000
19:18880270:TCAC:T	donor_loss	1.0000
19:18880271:CA:C	donor_loss	1.0000
19:18880272:A:AC	donor_gain	1.0000
19:18880272:AC:A	donor_gain	1.0000
19:18880273:C:CA	donor_gain	1.0000
19:18880273:CC:C	donor_gain	1.0000
19:18880273:CCAG:C	donor_gain	1.0000
19:18880398:CG:C	acceptor_gain	1.0000
19:18880433:TAC:T	acceptor_gain	1.0000

AlphaMissense

2303 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:18868844:A:C	F291C	0.999
19:18868873:C:A	W281C	0.998
19:18868873:C:G	W281C	0.998
19:18868889:A:C	F276C	0.998
19:18868843:G:C	F291L	0.997
19:18868843:G:T	F291L	0.997
19:18868844:A:G	F291S	0.997
19:18868845:A:G	F291L	0.997
19:18868864:C:A	W284C	0.997
19:18868864:C:G	W284C	0.997
19:18868888:G:C	F276L	0.996
19:18868888:G:T	F276L	0.996
19:18868890:A:G	F276L	0.996
19:18868889:A:G	F276S	0.993
19:18868673:A:T	L348H	0.991
19:18868643:A:G	L358P	0.990
19:18868859:A:T	I286N	0.990
19:18868890:A:T	F276I	0.990
19:18868829:C:T	C296Y	0.989
19:18868829:C:G	C296S	0.988
19:18868830:A:T	C296S	0.988
19:18868835:T:A	N294I	0.988
19:18868624:C:A	M364I	0.987
19:18868624:C:G	M364I	0.987
19:18868624:C:T	M364I	0.987
19:18868706:C:T	C337Y	0.987
19:18868664:T:A	D351V	0.986
19:18868669:G:C	F349L	0.986
19:18868669:G:T	F349L	0.986
19:18868671:A:G	F349L	0.986

dbSNP variants (sampled 300 via entrez): RS1000062904 (19:18868605 A>AG), RS1000168129 (19:18880936 C>T), RS1000275000 (19:18885438 C>T), RS1000287033 (19:18897391 C>CCCGCCA), RS1000292527 (19:18877606 G>C,T), RS1000450783 (19:18897161 AC>A,ACC), RS1000542322 (19:18873265 T>C), RS1000573480 (19:18873010 C>G,T), RS1000606848 (19:18891486 C>G,T), RS1000660977 (19:18892680 C>G), RS1000663212 (19:18885795 G>A), RS1000744427 (19:18886617 C>T), RS1000770254 (19:18879177 G>A,T), RS1000815859 (19:18875900 G>A,C), RS1000843398 (19:18876186 A>G)

Disease associations

OMIM: gene MIM:602880 | disease phenotypes: MIM:616230, MIM:306955, MIM:613854

GenCC curated gene-disease

Disease	Classification	Inheritance
right atrial isomerism	Strong	Autosomal recessive
congenital heart defects, multiple types, 6	Strong	Autosomal dominant
conotruncal heart malformations	Limited	Unknown

Mondo (5): progressive myoclonic epilepsy type 8 (MONDO:0014545), visceral heterotaxy (MONDO:0018677), congenital heart defects, multiple types, 6 (MONDO:0013463), right atrial isomerism (MONDO:0008832), conotruncal heart malformations (MONDO:0016581)

Orphanet (4): Progressive myoclonic epilepsy type 8 (Orphanet:424027), Visceral heterotaxy (Orphanet:450), Congenitally uncorrected transposition of the great arteries (Orphanet:860), Situs ambiguus (Orphanet:157769)

HPO phenotypes

39 total (30 of 39 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000233	Thin vermilion border
HP:0000268	Dolichocephaly
HP:0000337	Broad forehead
HP:0000520	Proptosis
HP:0001156	Brachydactyly
HP:0001274	Agenesis of corpus callosum
HP:0001511	Intrauterine growth retardation
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001636	Tetralogy of Fallot
HP:0001642	Pulmonic stenosis
HP:0001651	Dextrocardia
HP:0001669	Transposition of the great arteries
HP:0001674	Complete atrioventricular canal defect
HP:0001680	Coarctation of aorta
HP:0001684	Secundum atrial septal defect
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0001746	Asplenia
HP:0001748	Polysplenia
HP:0001750	Single ventricle
HP:0002101	Abnormal lung lobation
HP:0004209	Clinodactyly of the 5th finger
HP:0004467	Preauricular pit
HP:0004935	Pulmonary artery atresia
HP:0005105	Abnormal nasal morphology

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, decreases reaction, affects reaction, affects binding	2
Benzo(a)pyrene	decreases methylation, increases expression	2
Folic Acid	decreases expression, decreases reaction	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
picene	increases expression	1
Resveratrol	decreases expression	1
Sunitinib	increases expression	1
Acetylcysteine	decreases expression, decreases reaction	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Dust	decreases expression	1
Fluorouracil	affects reaction, decreases expression	1
Hydrogen Peroxide	decreases expression, decreases reaction	1
Lead	affects expression	1
Mustard Gas	affects expression, affects reaction	1
Nicotine	increases expression	1
Dronabinol	increases expression	1
Valproic Acid	increases methylation	1
2-Naphthylamine	increases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04009863	Not specified	COMPLETED	HIFU Ablation vs Fixed-dose RAI-131 Therapy in Moderate-sized Non-toxic MNG
NCT00004361	Not specified	COMPLETED	Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects
NCT00005102	Not specified	UNKNOWN	Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
NCT01460316	Not specified	COMPLETED	Conotruncal Cardiac Defects and Nutrigenetic Etiopathogeny
NCT01591928	Not specified	COMPLETED	Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective Study
NCT01929967	Not specified	COMPLETED	Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data
NCT02432079	Not specified	RECRUITING	Molecular Genetics of Heterotaxy and Related Congenital Heart Defects