Page last updated: 2024-09-27

Fibromatosis Hyalinica Multiplex Juvenilis

Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.

Synonyms(13)

Synonym
Hyalinosis, Systemic Juvenile
Juvenile Hyaline Fibromatosis
Juvenile Hyalinosis
Hyaline Fibromatosis Juvenile
Hyaline Fibromatosis Syndrome
Fibromatosis, Juvenile Hyaline
Puretic Syndrome
Fibromatosis Juvenile Hyaline
Systemic Hyalinosis
Hyalinosis, Systemic
Fibromatosis Hyalinica Multiplex Juvenilis
Infantile Systemic Hyalinosis
Murray Syndrome

Research Excerpts

Overview

ExcerptReference
"Juvenile hyaline fibromatosis is a rare disorder characterized by an extracellular accumulation of hyaline deposit."( Bruneval, P; Dukan, R; Masmejean, EH; Pannier, S; Petroni, G, 2022)

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
inositol 3-phosphate0low20

Protein Targets (58)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, 2-oxoglutarate Oxygenase1001
thioredoxin reductase1001
chaperonin-containing TCP-1 beta subunit homolog1001
aldehyde dehydrogenase 1 family, member A11001
retinoid X nuclear receptor alpha1001
estrogen nuclear receptor alpha1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
geminin1001
survival motor neuron protein isoform d1001
histone acetyltransferase KAT2A isoform 11001
Estrogen receptor beta0001
Inhibitor of nuclear factor kappa-B kinase subunit beta0001
Solute carrier family 22 member 60101
Polyphenol oxidase 20102
Carbonic anhydrase 120101
5'-AMP-activated protein kinase subunit beta-20001
Bile salt export pump0101
Bile salt export pump0101
Carbonic anhydrase 10202
Carbonic anhydrase 20202
Albumin0101
Polymerase acidic protein0011
Carbonic anhydrase 30101
Stromelysin-10011
Tyrosine-protein phosphatase YopH0101
High mobility group protein B10011
Aldo-keto reductase family 1 member B10101
Prolyl 4-hydroxylase subunit alpha-10101
Tyrosine-protein phosphatase non-receptor type 10103
Estrogen receptor0001
Acetylcholinesterase0101
Carbonic anhydrase 40101
Prostaglandin G/H synthase 10101
Carbonic anhydrase 60101
Cystathionine gamma-lyase0101
Carbonic anhydrase 5A, mitochondrial0101
Prostaglandin G/H synthase 20101
Carbonic anhydrase 70101
5'-AMP-activated protein kinase subunit gamma-10001
5'-AMP-activated protein kinase catalytic subunit alpha-20001
Xanthine dehydrogenase/oxidase0101
5'-AMP-activated protein kinase catalytic subunit alpha-10001
Carbonic anhydrase 90101
Carbonic anhydrase0101
Solute carrier family 22 member 60101
Solute carrier family 22 member 70001
Nicotinate phosphoribosyltransferase0101
Solute carrier family 22 member 200101
Solute carrier family 22 member 80101
Solute carrier family 22 member 60101
Ubiquitin-like domain-containing CTD phosphatase 10101
Carbonic anhydrase 150101
Carbonic anhydrase 130101
5'-AMP-activated protein kinase subunit gamma-30001
5'-AMP-activated protein kinase subunit gamma-20001
Carbonic anhydrase 140101
Carbonic anhydrase 5B, mitochondrial0101
5'-AMP-activated protein kinase subunit beta-10001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]