Page last updated: 2024-09-27

Cobblestone Complex

The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.

Synonyms(4)

Synonym
Cobblestone Lissencephaly
Lissencephaly Type 2
Cobblestone Complex
Cobblestone Dysplasia

Research

Studies (2)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's1 (50.00)18.1394
2010's1 (50.00)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
bromodeoxyuridine0low10
transforming growth factor beta0low10

Protein Targets (46)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
interleukin 81001
pregnane X receptor1001
RAR-related orphan receptor gamma1001
ATAD5 protein, partial1001
TDP1 protein1001
Microtubule-associated protein tau1001
AR protein1001
aldehyde dehydrogenase 1 family, member A11001
nuclear receptor subfamily 1, group I, member 31001
progesterone receptor1001
glucocorticoid receptor [Homo sapiens]1001
retinoic acid nuclear receptor alpha variant 11001
retinoid X nuclear receptor alpha1001
estrogen-related nuclear receptor alpha1001
pregnane X nuclear receptor1001
estrogen nuclear receptor alpha1001
bromodomain adjacent to zinc finger domain 2B1001
arylsulfatase A1001
IDH11001
euchromatic histone-lysine N-methyltransferase 21001
nuclear receptor subfamily 1, group I, member 21001
cellular tumor antigen p53 isoform a1001
Nuclear hormone receptor family member daf-120011
chromobox protein homolog 11001
nuclear factor erythroid 2-related factor 2 isoform 21001
thyroid hormone receptor beta isoform 21001
serine/threonine-protein kinase mTOR isoform 11001
oxysterols receptor LXR-beta isoform 10011
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
geminin1001
peripheral myelin protein 221001
survival motor neuron protein isoform d1001
muscarinic acetylcholine receptor M11001
Voltage-dependent calcium channel gamma-2 subunit1001
Thymidine kinase, cytosolic0101
Glutamate receptor 21001
Thymidine phosphorylase0001
Thymidylate kinase0101
Nuclear receptor ROR-gamma1001
Spike glycoprotein1001
Thymidine kinase0001
Thymidylate kinase0101
ATPase family AAA domain-containing protein 51001
Ataxin-21001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]