Page last updated: 2024-09-27

Cantrell Haller Ravitch syndrome

Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome.

Synonyms(5)

Synonym
Cantrell Haller Ravitch syndrome
Cantrell Pentalogy
Pentalogy of Cantrell
Cantrell's Pentalogy
Thoracoabdominal Syndrome

Research

Studies (5)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's5 (100.00)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
lactic acid0low10
iohexol0low10
titanium0low10
iobitridol0low10
phenylephrine hydrochloride0low10
transforming growth factor beta0low10

Protein Targets (46)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
ATAD5 protein, partial1001
nuclear receptor subfamily 1, group I, member 31001
geminin2002
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Bile salt export pump0101
Spike glycoprotein2002
Canalicular multispecific organic anion transporter 10101
acetylcholinesterase1001
RAR-related orphan receptor gamma2002
AR protein2002
estrogen receptor 2 (ER beta)1001
cytochrome P450 family 3 subfamily A polypeptide 41001
retinoic acid nuclear receptor alpha variant 11001
estrogen-related nuclear receptor alpha2002
estrogen nuclear receptor alpha2002
cytochrome P450 2D61001
thyroid stimulating hormone receptor2002
v-jun sarcoma virus 17 oncogene homolog (avian)1001
cellular tumor antigen p53 isoform a1001
Integrin beta-31001
Integrin alpha-IIb1001
Chain A, 2-oxoglutarate Oxygenase1001
glp-1 receptor, partial1001
thioredoxin reductase1001
GALC protein1001
TDP1 protein1001
GLI family zinc finger 31001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
glucocorticoid receptor [Homo sapiens]1001
peroxisome proliferator activated receptor gamma1001
IDH11001
euchromatic histone-lysine N-methyltransferase 21001
beta-2 adrenergic receptor1001
Bloom syndrome protein isoform 11001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
chromobox protein homolog 11001
nuclear factor erythroid 2-related factor 2 isoform 11001
Vpr1001
peripheral myelin protein 221001
lamin isoform A-delta101001
5-hydroxytryptamine receptor 2A0011
Cellular tumor antigen p531001
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]