Page last updated: 2024-09-27

Cryptophthalmos with Other Malformations

Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.

Synonyms(3)

Synonym
Fraser Syndrome
Cryptophthalmos-Syndactyly Syndrome
Cryptophthalmos with Other Malformations

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's3 (60.00)28.8240
2020's2 (40.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
sevoflurane0low10
propiconazole0low10
phenylephrine hydrochloride0low20

Protein Targets (65)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, 2-oxoglutarate Oxygenase1001
glp-1 receptor, partial2002
thioredoxin reductase1001
RAR-related orphan receptor gamma2002
GALC protein1001
TDP1 protein2002
GLI family zinc finger 32002
AR protein2002
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
glucocorticoid receptor [Homo sapiens]2002
estrogen-related nuclear receptor alpha2002
estrogen nuclear receptor alpha2002
peroxisome proliferator activated receptor gamma2002
IDH11001
euchromatic histone-lysine N-methyltransferase 21001
thyroid stimulating hormone receptor1001
beta-2 adrenergic receptor1001
Bloom syndrome protein isoform 11001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
chromobox protein homolog 12002
nuclear factor erythroid 2-related factor 2 isoform 12002
geminin1001
Vpr1001
peripheral myelin protein 221001
lamin isoform A-delta101001
5-hydroxytryptamine receptor 2A0011
Cellular tumor antigen p532002
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
Spike glycoprotein2002
Chain A, Beta-lactamase1001
Chain A, Ferritin light chain1001
pregnane X receptor1001
phosphopantetheinyl transferase1001
SMAD family member 21001
SMAD family member 31001
estrogen receptor 2 (ER beta)1001
nuclear receptor subfamily 1, group I, member 31001
progesterone receptor1001
nonstructural protein 11001
retinoic acid nuclear receptor alpha variant 11001
retinoid X nuclear receptor alpha1001
farnesoid X nuclear receptor1001
pregnane X nuclear receptor1001
peroxisome proliferator-activated receptor delta1001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
aryl hydrocarbon receptor1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
vitamin D3 receptor isoform VDRA1001
thyroid hormone receptor beta isoform a1001
thyroid hormone receptor beta isoform 21001
heat shock protein HSP 90-alpha isoform 20001
DNA polymerase iota isoform a (long)1001
nuclear receptor ROR-gamma isoform 11001
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Voltage-dependent calcium channel gamma-2 subunit1001
Cytochrome P450 3A40101
Glutamate receptor 21001
Histamine H2 receptor1001
Guanine nucleotide-binding protein G1001
TAR DNA-binding protein 431001
ATPase family AAA domain-containing protein 51001
Ataxin-21001
heat shock protein 90, putative0001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]