Page last updated: 2024-09-27

Cerebral Gigantism

Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.

Synonyms(4)

Synonym
Sotos' Syndrome
Sotos Sequence
Sotos Syndrome
Cerebral Gigantism

Research Excerpts

Overview

ExcerptReference
"Sotos syndrome is a human developmental and cognitive disorder caused by happloinsufficiency of transcription factor NSD1."( Kamps, MP; Pasillas, MP; Shah, M, 2011)
"Sotos syndrome is one of the overgrowth syndromes, and can present with intellectual disability, behavioral problems and tall stature."( Chaudhry, C; Panigrahi, I, 2020)

Research

Studies (11)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's7 (63.64)28.8240
2020's4 (36.36)9.53
DrugIndicatedRelationship StrengthStudiesTrials
diazoxide0low10
lysine0low20
isomethyleugenol0low20
leuprolide0low10
levetiracetam0low10
quetiapine fumarate0low10

Protein Targets (65)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, Beta-lactamase1001
Chain A, Ferritin light chain1001
ATAD5 protein, partial1001
GLS protein1001
TDP1 protein1001
aldehyde dehydrogenase 1 family, member A11001
thyroid stimulating hormone receptor1001
regulator of G-protein signaling 41001
estrogen nuclear receptor alpha1001
euchromatic histone-lysine N-methyltransferase 22002
cytochrome P450 2D6 isoform 11001
D(1A) dopamine receptor1001
thyroid hormone receptor beta isoform a1001
importin subunit beta-1 isoform 11001
snurportin-11001
GTP-binding nuclear protein Ran isoform 11001
nuclear receptor ROR-gamma isoform 11001
geminin1001
peripheral myelin protein 221001
survival motor neuron protein isoform d1001
cytochrome P450 3A4 isoform 11001
histone acetyltransferase KAT2A isoform 11001
lamin isoform A-delta101001
Gamma-aminobutyric acid receptor subunit pi1001
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40202
Bile salt export pump0202
Coagulation factor VII0101
Tissue factor0101
Gamma-aminobutyric acid receptor subunit beta-11001
Gamma-aminobutyric acid receptor subunit delta1001
Gamma-aminobutyric acid receptor subunit gamma-21001
Glutamate receptor 10002
Glutamate receptor 20002
Glutamate receptor 30002
Glutamate receptor 40002
Gamma-aminobutyric acid receptor subunit alpha-51001
Gamma-aminobutyric acid receptor subunit alpha-31001
Gamma-aminobutyric acid receptor subunit gamma-11001
Gamma-aminobutyric acid receptor subunit alpha-21001
Gamma-aminobutyric acid receptor subunit alpha-41001
Gamma-aminobutyric acid receptor subunit gamma-31001
Gamma-aminobutyric acid receptor subunit alpha-61001
Nicotinamide phosphoribosyltransferase0011
Gamma-aminobutyric acid receptor subunit alpha-11001
Gamma-aminobutyric acid receptor subunit beta-31001
Gamma-aminobutyric acid receptor subunit beta-21001
ATP-binding cassette sub-family C member 80112
ATP-sensitive inward rectifier potassium channel 110112
GABA theta subunit1001
Canalicular multispecific organic anion transporter 10202
Gamma-aminobutyric acid receptor subunit epsilon1001
estrogen-related nuclear receptor alpha1001
Gonadotropin-releasing hormone receptor0101
Gonadotropin-releasing hormone receptor0202
chaperonin-containing TCP-1 beta subunit homolog1001
EWS/FLI fusion protein1001
flap endonuclease 11001
Synaptic vesicle glycoprotein 2A0101
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast0101
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast0101
potassium voltage-gated channel subfamily H member 2 isoform d1001
Glutathione reductase, mitochondrial0202
Cationic amino acid transporter 30101
Spike glycoprotein1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]