Page last updated: 2024-09-28

Hyalinosis Cutis et Mucosae

An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.

Synonyms(7)

Synonym
Lipoproteinosis
Urbach-Wiethe Lipoid Proteinosis
Urbach-Wiethe Disease
Hyalinosis Cutis et Mucosae
Lipoidproteinosis
Lipoid Proteinosis of Urbach and Wiethe
Urbach-Wiethe Syndrome

Research

Studies (43)

TimeframeStudies, This Condition (%)All Conditions %
pre-199013 (30.23)23.3326
1990's9 (20.93)12.5806
2000's12 (27.91)18.1394
2010's9 (20.93)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
cytosine0low10
dimethyl sulfoxide0low40
guaifenesin0low10
2-propanol0low10
ketanserin0low10
prednisone0low10
edetic acid0low10
congo red0low10
pravastatin0low20
oxytocin0medium11
inositol 3-phosphate0low50
altanserin0low10
etretinate0low10
acitretin0low60
lysophosphatidylcholines0low10
glucuronyl glucosamine glycan sulfate0low10
phosphatidylcholines0low20
glycolipids0low20
fosinopril0low10
oxytetracycline, anhydrous0low10
guanine0low10
eye0low30

Protein Targets (234)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
hypoxia-inducible factor 1 alpha subunit4004
RAR-related orphan receptor gamma6006
GLI family zinc finger 37007
AR protein8008
aldehyde dehydrogenase 1 family, member A16006
retinoic acid nuclear receptor alpha variant 15005
retinoid X nuclear receptor alpha3003
estrogen nuclear receptor alpha7007
peroxisome proliferator-activated receptor delta2002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a5005
activating transcription factor 64004
v-jun sarcoma virus 17 oncogene homolog (avian)5005
Histone H2A.x5005
thyroid hormone receptor beta isoform a2002
heat shock protein beta-12002
nuclear factor erythroid 2-related factor 2 isoform 16006
lamin isoform A-delta102002
Voltage-dependent calcium channel gamma-2 subunit4004
Glutamate receptor 24004
Chain A, JmjC domain-containing histone demethylation protein 3A2002
Luciferase2002
USP1 protein, partial4004
TDP1 protein4004
Microtubule-associated protein tau4004
glucocorticoid receptor [Homo sapiens]5005
peroxisome proliferator activated receptor gamma3003
euchromatic histone-lysine N-methyltransferase 26006
vitamin D3 receptor isoform VDRA4004
thyroid hormone receptor beta isoform 24004
flap endonuclease 13003
serine/threonine-protein kinase PLK12002
eyes absent homolog 2 isoform a1001
DNA polymerase eta isoform 12002
geminin6006
peripheral myelin protein 223003
survival motor neuron protein isoform d1001
histone acetyltransferase KAT2A isoform 12002
ATP-binding cassette sub-family C member 30303
Multidrug resistance-associated protein 40303
Bile salt export pump0202
Bile salt export pump0505
Rap guanine nucleotide exchange factor 33003
Cellular tumor antigen p536006
Rap guanine nucleotide exchange factor 41001
thyroid stimulating hormone receptor1001
regulator of G-protein signaling 42002
cytochrome P450 2D6 isoform 11001
cytochrome P450 2C9 precursor2002
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 13003
nuclear receptor ROR-gamma isoform 12002
cytochrome P450 3A4 isoform 12002
Gamma-aminobutyric acid receptor subunit pi2002
Polyunsaturated fatty acid lipoxygenase ALOX15B2002
5-hydroxytryptamine receptor 1A0213
D(2) dopamine receptor0202
5-hydroxytryptamine receptor 2A0315
Gamma-aminobutyric acid receptor subunit beta-12002
Gamma-aminobutyric acid receptor subunit delta2002
Gamma-aminobutyric acid receptor subunit gamma-22002
Gamma-aminobutyric acid receptor subunit alpha-52002
Gamma-aminobutyric acid receptor subunit alpha-32002
Gamma-aminobutyric acid receptor subunit gamma-12002
Gamma-aminobutyric acid receptor subunit alpha-22002
5-hydroxytryptamine receptor 2A0316
5-hydroxytryptamine receptor 2C0304
Gamma-aminobutyric acid receptor subunit alpha-42002
Gamma-aminobutyric acid receptor subunit gamma-32002
Gamma-aminobutyric acid receptor subunit alpha-62002
Alpha-1A adrenergic receptor0314
Histamine H2 receptor3004
D(2) dopamine receptor0303
Gamma-aminobutyric acid receptor subunit alpha-12002
Gamma-aminobutyric acid receptor subunit beta-32002
Gamma-aminobutyric acid receptor subunit beta-22002
GABA theta subunit2002
Gamma-aminobutyric acid receptor subunit epsilon2002
acetylcholinesterase2002
estrogen receptor 2 (ER beta)3003
nuclear receptor subfamily 1, group I, member 34004
cytochrome P450 family 3 subfamily A polypeptide 44004
estrogen-related nuclear receptor alpha5005
vitamin D (1,25- dihydroxyvitamin D3) receptor5005
aryl hydrocarbon receptor3003
thyroid stimulating hormone receptor2002
B2 bradykinin receptor0101
Dihydrofolate reductase0001
Dihydrofolate reductase0101
Chymotrypsinogen A0001
Beta-lactamase0101
Amyloid-beta precursor protein0303
Beta-lactamase0001
Beta-galactosidase0102
5-hydroxytryptamine receptor 1A0202
Choline O-acetyltransferase0101
Ectonucleotide pyrophosphatase/phosphodiesterase family member 20202
PH domain leucine-rich repeat-containing protein phosphatase 20101
Chymotrypsin-C0101
IDH11001
Deoxycytidine kinase0001
Cereblon isoform 40202
Insulin-like growth factor-binding protein 50011
Choline O-acetyltransferase 0101
Protein cereblon0202
Chain A, TYROSYL-DNA PHOSPHODIESTERASE3003
progesterone receptor3003
Eyes absent homolog 20101
Angiotensin-converting enzyme 0101
Metallo-beta-lactamase VIM-130101
Beta-lactamase 0101
Beta-lactamase 0101
Beta-lactamase VIM-1 0101
SMAD family member 23003
SMAD family member 33003
farnesoid X nuclear receptor2002
pregnane X nuclear receptor3003
G2002
cytochrome P450 2D63003
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
Interferon beta2002
HLA class I histocompatibility antigen, B alpha chain 2002
Inositol hexakisphosphate kinase 12002
Canalicular multispecific organic anion transporter 10202
cytochrome P450 2C9, partial2002
Purine nucleoside phosphorylase0202
Hypoxanthine-guanine phosphoribosyltransferase0001
Ricin0101
2-amino-4-hydroxy-6-hydroxymethyldihydropteridine pyrophosphokinase0011
Purine nucleoside phosphorylase 0012
Shiga toxin subunit A0101
Guanine deaminase0001
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE4004
dopamine D1 receptor1001
EWS/FLI fusion protein2002
cytochrome P450 2C19 precursor1001
D(1A) dopamine receptor1001
chromobox protein homolog 12002
potassium voltage-gated channel subfamily H member 2 isoform d1001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 12002
5-hydroxytryptamine receptor 2C0213
Alpha-1B adrenergic receptor0112
D0101
D(4) dopamine receptor0101
Alpha-1D adrenergic receptor0112
Sodium-dependent noradrenaline transporter 0101
5-hydroxytryptamine receptor 1D0101
5-hydroxytryptamine receptor 1B0101
5-hydroxytryptamine receptor 1B0101
5-hydroxytryptamine receptor 2B0213
Histamine H1 receptor0101
Sodium-dependent serotonin transporter0101
5-hydroxytryptamine receptor 7 0101
5-hydroxytryptamine receptor 70101
Histamine H1 receptor0101
5-hydroxytryptamine receptor 2B0203
5-hydroxytryptamine receptor 5A0101
5-hydroxytryptamine receptor 60101
5-hydroxytryptamine receptor 70101
Spike glycoprotein2002
Synaptic vesicular amine transporter0202
Vesicular acetylcholine transporter0101
Sigma non-opioid intracellular receptor 10101
ATP-dependent phosphofructokinase1001
Chain A, Beta-lactamase1001
Chain A, Putative fructose-1,6-bisphosphate aldolase2002
Chain A, 2-oxoglutarate Oxygenase1001
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
thioredoxin reductase1001
WRN1001
phosphopantetheinyl transferase2002
GLS protein1001
Valosin-containing protein0101
thioredoxin glutathione reductase2002
apical membrane antigen 1, AMA11001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)2002
bromodomain adjacent to zinc finger domain 2B1001
lysosomal alpha-glucosidase preproprotein1001
transcriptional regulator ERG isoform 31001
microphthalmia-associated transcription factor isoform 90101
importin subunit beta-1 isoform 11001
DNA polymerase beta1001
ubiquitin carboxyl-terminal hydrolase 2 isoform a1001
eukaryotic translation initiation factor 4 gamma 1 isoform 40101
snurportin-11001
DNA polymerase iota isoform a (long)1001
eukaryotic translation initiation factor 4E isoform 10101
DNA polymerase kappa isoform 11001
muscleblind-like protein 1 isoform 11001
DNA dC->dU-editing enzyme APOBEC-3G isoform 11001
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
Serum paraoxonase/arylesterase 10101
phosphoglycerate kinase1001
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 2 subunit alpha0101
Sodium channel protein type 3 subunit alpha0101
Vasopressin V2 receptor0112
Oxytocin receptor0224
Vasopressin V1a receptor0101
Vasopressin V1a receptor0213
Vasopressin V1b receptor0112
Vasopressin V1b receptor0101
Oxytocin receptor0101
Oxytocin receptor0011
Vasopressin V2 receptor 0101
Potassium voltage-gated channel subfamily H member 20101
Cystathionine gamma-lyase0101
Succinyl-diaminopimelate desuccinylase0101
Solute carrier organic anion transporter family member 1A40001
Solute carrier family 22 member 60101
Solute carrier organic anion transporter family member 2B1 0203
3-hydroxy-3-methylglutaryl-coenzyme A reductase0101
Insulin receptor 0101
Prostaglandin G/H synthase 20101
Solute carrier organic anion transporter family member 1A10001
3-hydroxy-3-methylglutaryl-coenzyme A reductase 0101
Solute carrier family 22 member 60101
Solute carrier family 22 member 70101
Canalicular multispecific organic anion transporter 10102
Solute carrier family 22 member 80101
Solute carrier organic anion transporter family member 1B30202
Solute carrier family 22 member 110101
Solute carrier family 22 member 80102
Solute carrier family 22 member 70101
Solute carrier organic anion transporter family member 1B10203
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
pregnane X receptor1001
nuclear factor erythroid 2-related factor 2 isoform 21001
Glucocorticoid receptor0213
Glycine receptor subunit alpha-10202
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Nuclear receptor ROR-gamma1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]