Page last updated: 2024-09-27

Congenital Mesodermal Dysmorphodystrophy

The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations.

Synonyms(12)

Synonym
GEMSS
Weill-Marchesani Syndrome
Spherophakia-Brachymorphia Syndrome
Congenital Mesodermal Dysmorphodystrophy
Spherophakia Brachymorphia Syndrome
Marchesani Syndrome
Marchesani-Weill Syndrome
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Recessive
Weill Marchesani Syndrome
Mesodermal Dysmorphodystrophy, Congenital

Research Excerpts

Research

Studies (10)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's8 (80.00)28.8240
2020's2 (20.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
2-propanol0low20
fucose0low10
heparitin sulfate0low10
transforming growth factor beta0low30
eye0low10

Protein Targets (21)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
hypoxia-inducible factor 1 alpha subunit1001
RAR-related orphan receptor gamma1001
GLI family zinc finger 31001
AR protein1001
aldehyde dehydrogenase 1 family, member A11001
retinoic acid nuclear receptor alpha variant 11001
retinoid X nuclear receptor alpha1001
estrogen nuclear receptor alpha1001
peroxisome proliferator-activated receptor delta1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
activating transcription factor 61001
v-jun sarcoma virus 17 oncogene homolog (avian)1001
Histone H2A.x1001
thyroid hormone receptor beta isoform a1001
heat shock protein beta-11001
nuclear factor erythroid 2-related factor 2 isoform 11001
lamin isoform A-delta101001
Voltage-dependent calcium channel gamma-2 subunit1001
Glutamate receptor 21001
Fucose-binding lectin PA-IIL0101
CD209 antigen0202
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]