Page last updated: 2024-09-28

Dermal Hypoplasia, Focal

A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.

Synonyms(6)

Synonym
Goltz Gorlin Syndrome
Dermal Hypoplasia, Focal
Goltz-Gorlin Syndrome
Focal Dermal Hypoplasia
Goltz's Syndrome
Goltz Syndrome

Research Excerpts

Research

Studies (20)

TimeframeStudies, This Condition (%)All Conditions %
pre-19902 (10.00)23.3326
1990's9 (45.00)12.5806
2000's3 (15.00)18.1394
2010's6 (30.00)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
aminolevulinic acid0low10
salicylic acid0low30
2-propanol0low10
hydroxyproline0low10
tyrosine0low10
argon0low10
propiconazole0low20
methyl 5-aminolevulinate0low10
cystine0low10
phenylephrine hydrochloride0low10
fluticasone0low10
s 17430low10
folic acid0low10
eye0low20

Protein Targets (185)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
hypoxia-inducible factor 1 alpha subunit1001
RAR-related orphan receptor gamma3003
GLI family zinc finger 34004
AR protein4004
aldehyde dehydrogenase 1 family, member A13003
retinoic acid nuclear receptor alpha variant 12002
retinoid X nuclear receptor alpha4004
estrogen nuclear receptor alpha6006
peroxisome proliferator-activated receptor delta2002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a2002
activating transcription factor 62002
v-jun sarcoma virus 17 oncogene homolog (avian)1001
Histone H2A.x1001
thyroid hormone receptor beta isoform a2002
heat shock protein beta-11001
nuclear factor erythroid 2-related factor 2 isoform 13003
lamin isoform A-delta102002
Voltage-dependent calcium channel gamma-2 subunit2002
Glutamate receptor 22002
Chain A, Beta-lactamase2002
bromodomain adjacent to zinc finger domain 2B1001
geminin3003
Gamma-aminobutyric acid receptor subunit rho-10101
Glutamate receptor 10101
Glutamate receptor 20101
Glutamate receptor 30101
Glutamate receptor ionotropic, kainate 30101
Solute carrier family 15 member 10101
Glutamate receptor 40101
Solute carrier family 15 member 10101
Solute carrier family 15 member 20101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
Chain A, Dihydrofolate reductase0011
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, 2-oxoglutarate Oxygenase3003
Chain A, Ferritin light chain2002
acid sphingomyelinase1001
glp-1 receptor, partial3003
USP1 protein, partial1001
thyroid stimulating hormone receptor1001
estrogen-related nuclear receptor alpha3003
glucocerebrosidase1001
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
alpha-galactosidase1001
lysosomal alpha-glucosidase preproprotein2002
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 12002
nuclear factor erythroid 2-related factor 2 isoform 21001
DNA polymerase beta1001
Multidrug resistance-associated protein 40001
Bile salt export pump0202
Cellular tumor antigen p533003
Thymidylate synthase0202
Thymidylate synthase0101
Dihydrofolate reductase0011
Aldo-keto reductase family 1 member B10202
Alpha-synuclein1001
Folylpolyglutamate synthase, mitochondrial0001
Solute carrier organic anion transporter family member 1A30101
Folylpolyglutamate synthase, mitochondrial0001
Multidrug resistance associated protein0001
Neutral amino acid transporter A0101
Asc-type amino acid transporter 10101
Neutral amino acid transporter B(0)0101
Proton-coupled amino acid transporter 10101
Amino acid transporter0101
thioredoxin reductase2002
GALC protein1001
TDP1 protein2002
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
glucocorticoid receptor [Homo sapiens]2002
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
mu-type opioid receptor isoform MOR-10011
chromobox protein homolog 12002
Vpr1001
peripheral myelin protein 221001
5-hydroxytryptamine receptor 2A0011
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
Spike glycoprotein1001
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
farnesoid X nuclear receptor1001
pregnane X nuclear receptor1001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
aryl hydrocarbon receptor1001
vitamin D3 receptor isoform VDRA1001
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
Cytochrome P450 3A40101
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
chaperonin-containing TCP-1 beta subunit homolog1001
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 20103
Carbonic anhydrase 120102
5'-AMP-activated protein kinase subunit beta-20001
Bile salt export pump0101
Carbonic anhydrase 10203
Carbonic anhydrase 20203
Albumin0101
Polymerase acidic protein0011
Carbonic anhydrase 30102
Stromelysin-10011
Tyrosine-protein phosphatase YopH0101
High mobility group protein B10011
Prolyl 4-hydroxylase subunit alpha-10101
Tyrosine-protein phosphatase non-receptor type 10103
Estrogen receptor0001
Acetylcholinesterase0101
Carbonic anhydrase 40102
Prostaglandin G/H synthase 10101
Carbonic anhydrase 60102
Cystathionine gamma-lyase0101
Carbonic anhydrase 5A, mitochondrial0102
Prostaglandin G/H synthase 20101
Carbonic anhydrase 70102
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 90102
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 150102
Carbonic anhydrase 130101
5'-AMP-activated protein kinase subunit gamma-30001
5'-AMP-activated protein kinase subunit gamma-20001
Carbonic anhydrase 140102
Carbonic anhydrase 5B, mitochondrial0102
5'-AMP-activated protein kinase subunit beta-10001
Chain A, CHORISMATE MUTASE0101
Chain A, TYROSYL-tRNA SYNTHETASE0011
Plasma kallikrein0001
Adenosine receptor A10001
Adenosine receptor A2a0001
Glutamate receptor ionotropic, NMDA 1 0001
Carbonic anhydrase0001
Carbonic anhydrase0001
Glutamate receptor ionotropic, NMDA 2A 0001
Glutamate receptor ionotropic, NMDA 2B0001
Glutamate receptor ionotropic, NMDA 2C0001
Large neutral amino acids transporter small subunit 10101
SLC16A10 protein0001
Carbonic anhydrase 0001
Carbonic anhydrase-like protein, putative0001
Carbonic anhydrase0001
Carbonic anhydrase0001
Glutamate receptor ionotropic, NMDA 2D0001
Carbonic anhydrase 0001
Tubulin--tyrosine ligase0101
Glutamate receptor ionotropic, NMDA 3B0001
Monocarboxylate transporter 100001
Taste receptor type 2 member 140001
Glutamate receptor ionotropic, NMDA 3A0001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]