Page last updated: 2024-09-27

Acrocallosal Syndrome

Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.

Synonyms(2)

Synonym
Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum
Acrocallosal Syndrome

Research

Studies (5)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's3 (60.00)18.1394
2010's2 (40.00)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
melatonin0low10
lamotrigine0low10
propranolol0low10
phenylephrine hydrochloride0low20

Protein Targets (189)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
thioredoxin reductase4004
GALC protein2002
EWS/FLI fusion protein2002
cytochrome P450 2D61001
euchromatic histone-lysine N-methyltransferase 24004
Bloom syndrome protein isoform 13003
cytochrome P450 2D6 isoform 12002
peripheral myelin protein 22 isoform 12002
D(1A) dopamine receptor2002
nuclear factor erythroid 2-related factor 2 isoform 21001
potassium voltage-gated channel subfamily H member 2 isoform d1001
mitogen-activated protein kinase 11001
geminin3003
muscarinic acetylcholine receptor M12002
Bile salt export pump0303
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 2 subunit alpha0101
Sodium channel protein type 3 subunit alpha0101
Dihydrofolate reductase0202
Potassium voltage-gated channel subfamily E member 10101
Sodium channel protein type 4 subunit alpha0102
Potassium voltage-gated channel subfamily KQT member 10101
Potassium voltage-gated channel subfamily H member 20202
Voltage-dependent L-type calcium channel subunit alpha-1C0202
Sodium channel protein type 5 subunit alpha0202
Sodium channel protein type 9 subunit alpha0101
Sodium channel protein type 2 subunit alpha0101
Sodium channel protein type 3 subunit alpha0101
Sigma non-opioid intracellular receptor 10101
Sodium channel protein type 10 subunit alpha0101
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, 2-oxoglutarate Oxygenase2002
interleukin 81001
ClpP1001
phosphopantetheinyl transferase1001
RAR-related orphan receptor gamma2002
ATAD5 protein, partial1001
GLI family zinc finger 32002
AR protein2002
caspase 7, apoptosis-related cysteine protease1001
aldehyde dehydrogenase 1 family, member A11001
nuclear receptor subfamily 1, group I, member 31001
regulator of G-protein signaling 41001
retinoic acid nuclear receptor alpha variant 11001
pregnane X nuclear receptor1001
estrogen nuclear receptor alpha2002
caspase-31001
aryl hydrocarbon receptor1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
chromobox protein homolog 12002
ras-related protein Rab-9A1001
cytochrome P450 3A4 isoform 11001
M-phase phosphoprotein 81001
lamin isoform A-delta102002
Gamma-aminobutyric acid receptor subunit pi1113
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40202
Cellular tumor antigen p532002
Cytochrome P450 1A10101
Cytochrome P450 1A2 0101
Myeloperoxidase0101
Cytochrome P450 1A20202
Cholinesterase0101
Cytochrome P450 2C11 0101
Cytochrome P450 2D60202
Aromatase0101
Gamma-aminobutyric acid receptor subunit beta-11113
Ribosyldihydronicotinamide dehydrogenase [quinone]0202
Gamma-aminobutyric acid receptor subunit delta1113
Gamma-aminobutyric acid receptor subunit gamma-21113
Gamma-aminobutyric acid receptor subunit alpha-51113
Gamma-aminobutyric acid receptor subunit alpha-31113
Acetylcholinesterase0101
Metabotropic glutamate receptor 10101
Gamma-aminobutyric acid receptor subunit gamma-11113
Gamma-aminobutyric acid receptor subunit alpha-21113
Acetylcholinesterase 0101
Gamma-aminobutyric acid receptor subunit alpha-41113
Gamma-aminobutyric acid receptor subunit gamma-31113
Gamma-aminobutyric acid receptor subunit alpha-61113
Mu-type opioid receptor0101
Nociceptin receptor0101
Alpha-1A adrenergic receptor0213
Melatonin receptor type 1A0213
Melatonin receptor type 1C0011
Melatonin receptor type 1A0112
Melatonin receptor type 1B0213
Melatonin receptor type 1C0112
Melatonin receptor type 1B0112
Nuclear receptor ROR-gamma1001
Gamma-aminobutyric acid receptor subunit alpha-11113
Gamma-aminobutyric acid receptor subunit beta-31113
Gamma-aminobutyric acid receptor subunit beta-21113
Nuclear factor erythroid 2-related factor 20001
Cytochrome P450 1B10101
Palmitoleoyl-protein carboxylesterase NOTUM0101
GABA theta subunit1113
Canalicular multispecific organic anion transporter 10202
Gamma-aminobutyric acid receptor subunit epsilon1113
Carboxylic ester hydrolase 0101
Histamine H3 receptor0101
ATP-dependent phosphofructokinase1001
glp-1 receptor, partial1001
TDP1 protein2002
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
glucocorticoid receptor [Homo sapiens]1001
estrogen-related nuclear receptor alpha1001
peroxisome proliferator activated receptor gamma1001
IDH11001
thyroid stimulating hormone receptor1001
beta-2 adrenergic receptor1001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
nuclear factor erythroid 2-related factor 2 isoform 11001
Vpr1001
peripheral myelin protein 221001
5-hydroxytryptamine receptor 2A0011
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
Spike glycoprotein1001
Beta-1 adrenergic receptor 0113
arylsulfatase A1001
Solute carrier family 22 member 1 0101
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Bile salt export pump0101
5-hydroxytryptamine receptor 40202
Albumin0011
Beta-2 adrenergic receptor0213
Muscarinic acetylcholine receptor M20112
ATP-dependent translocase ABCB10202
Beta-1 adrenergic receptor0213
Cytochrome P450 3A40101
5-hydroxytryptamine receptor 1A0101
Alpha-2A adrenergic receptor0124
Adenosine receptor A30112
Beta-2 adrenergic receptor0203
Cytochrome P450 2C80101
Muscarinic acetylcholine receptor M10112
Cytochrome P450 2C9 0101
Beta-3 adrenergic receptor0213
D(2) dopamine receptor0112
Alpha-1B adrenergic receptor0112
Alpha-2B adrenergic receptor0012
Beta-1 adrenergic receptor0214
Alpha-2C adrenergic receptor0124
D(3) dopamine receptor0101
5-hydroxytryptamine receptor 1A0214
Alpha-2B adrenergic receptor0011
Muscarinic acetylcholine receptor M30112
D(1A) dopamine receptor0112
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Alpha-2C adrenergic receptor0011
Alpha-2A adrenergic receptor0011
Alpha-1D adrenergic receptor0112
Alpha-1D adrenergic receptor0012
Endothelin-1 receptor0112
Beta-3 adrenergic receptor0202
5-hydroxytryptamine receptor 1B0213
5-hydroxytryptamine receptor 2A0213
5-hydroxytryptamine receptor 2C0213
5-hydroxytryptamine receptor 1B0202
Adenosine receptor A2a0112
Neuromedin-K receptor0011
Type-1 angiotensin II receptor0112
Sodium-dependent serotonin transporter0202
Cholecystokinin receptor type A0112
Cytochrome P450 2C190101
5-hydroxytryptamine receptor 70112
Beta-1 adrenergic receptor0101
Alpha-1A adrenergic receptor0124
Alpha-1B adrenergic receptor0012
Mu-type opioid receptor0112
Vasopressin V1a receptor0112
Delta-type opioid receptor0112
Kappa-type opioid receptor0112
5-hydroxytryptamine receptor 2B0213
5-hydroxytryptamine receptor 60213
5-hydroxytryptamine receptor 70101
Cytochrome P450 2J20101
Beta-2 adrenergic receptor0101
Sodium/bile acid cotransporter0101
Beta-2 adrenergic receptor0113
Ataxin-21001
Sigma non-opioid intracellular receptor 10202
Nuclear receptor subfamily 2 group E member 10022
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]