Page last updated: 2024-09-28

Asphyxiating Thoracic Dystrophy 3

A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.

Synonyms(13)

Synonym
Polydactyly with Neonatal Chondrodystrophy, Type 1
Asphyxiating Thoracic Dystrophy 3
Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome, Majewski Type
Polydactyly With Neonatal Chondrodystrophy, Type I
Polydactyly With Neonatal Chondrodystrophy, Type II
Polydactyly with Neonatal Chondrodystrophy, Type 2
Short Rib-Polydactyly Syndrome Type 1
Short Rib-Polydactyly Syndrome, Saldino-Noonan Type
Majewski Syndrome
Short Rib-Polydactyly Syndrome, Type II
Short Rib-Polydactyly Syndrome, Type I
Saldino-Noonan Syndrome

Research

Studies (3)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's1 (33.33)12.5806
2000's1 (33.33)18.1394
2010's0 (0.00)28.8240
2020's1 (33.33)9.53
DrugIndicatedRelationship StrengthStudiesTrials
flumazenil0low20
transforming growth factor beta0low10

Protein Targets (76)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
endonuclease IV1001
thioredoxin reductase1001
phosphopantetheinyl transferase1001
TDP1 protein1001
aldehyde dehydrogenase 1 family, member A11001
thyroid stimulating hormone receptor1001
nuclear receptor subfamily 1, group I, member 31001
progesterone receptor1001
regulator of G-protein signaling 41001
EWS/FLI fusion protein1001
G1001
arylsulfatase A1001
euchromatic histone-lysine N-methyltransferase 21001
Bloom syndrome protein isoform 11001
cytochrome P450 2D6 isoform 11001
cytochrome P450 2C19 precursor1001
nuclear factor erythroid 2-related factor 2 isoform 21001
flap endonuclease 11001
nuclear receptor ROR-gamma isoform 11001
geminin1001
survival motor neuron protein isoform d1001
muscleblind-like protein 1 isoform 11001
muscarinic acetylcholine receptor M11001
Gamma-aminobutyric acid receptor subunit pi0101
Gamma-aminobutyric acid receptor subunit pi0202
Gamma-aminobutyric acid receptor subunit delta0101
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Bile salt export pump0101
Bile salt export pump0101
Interferon beta1001
HLA class I histocompatibility antigen, B alpha chain 1001
Gamma-aminobutyric acid receptor subunit alpha-10202
Gamma-aminobutyric acid receptor subunit beta-10202
Neuronal acetylcholine receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit alpha-20202
Gamma-aminobutyric acid receptor subunit alpha-30202
Neuronal acetylcholine receptor subunit beta-20101
Gamma-aminobutyric acid receptor subunit alpha-10112
Gamma-aminobutyric acid receptor subunit beta-10202
Gamma-aminobutyric acid receptor subunit beta-10101
Gamma-aminobutyric acid receptor subunit delta0202
Gamma-aminobutyric acid receptor subunit gamma-20112
Gamma-aminobutyric acid receptor subunit gamma-20202
5-hydroxytryptamine receptor 1A0101
Gamma-aminobutyric acid receptor subunit alpha-50202
Gamma-aminobutyric acid receptor subunit alpha-30202
Gamma-aminobutyric acid receptor subunit alpha-40202
Gamma-aminobutyric acid receptor subunit gamma-20202
Gamma-aminobutyric acid receptor subunit gamma-10202
Gamma-aminobutyric acid receptor subunit alpha-20202
Gamma-aminobutyric acid receptor subunit alpha-40202
Gamma-aminobutyric acid receptor subunit beta-30112
Gamma-aminobutyric acid receptor subunit gamma-30202
Gamma-aminobutyric acid receptor subunit alpha-60202
Gamma-aminobutyric acid receptor subunit alpha-50112
Gamma-aminobutyric acid receptor subunit alpha-30112
Gamma-aminobutyric acid receptor subunit alpha-20101
Gamma-aminobutyric acid receptor subunit beta-20101
Gamma-aminobutyric acid receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit alpha-10202
Gamma-aminobutyric acid receptor subunit beta-30202
Gamma-aminobutyric acid receptor subunit beta-20202
Gamma-aminobutyric acid receptor subunit epsilon0101
Neuronal acetylcholine receptor subunit alpha-70101
TAR DNA-binding protein 431001
Gamma-aminobutyric acid receptor subunit alpha-60101
Gamma-aminobutyric acid receptor subunit gamma-10101
GABA theta subunit0202
Inositol hexakisphosphate kinase 11001
Canalicular multispecific organic anion transporter 10101
Gamma-aminobutyric acid receptor subunit gamma-30101
Gamma-aminobutyric acid receptor subunit epsilon0202
Gamma-aminobutyric acid receptor subunit theta0101
cytochrome P450 2C9, partial1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]