Monilethrix

Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix.

Synonym
Monilethrix
Nodose Hair

Excerpt	Reference
"Monilethrix is a congenital hair shaft disorder with associated fragility."	( Davis, MG; Flagler, MJ; Jones, L; Rufaut, N; Sinclair, R, 2012)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	4 (36.36)	23.3326
1990's	0 (0.00)	12.5806
2000's	0 (0.00)	18.1394
2010's	5 (45.45)	28.8240
2020's	2 (18.18)	9.53

Drug	Relationship Strength	Studies
salicylic acid	low	1
minoxidil	low	5
arginine	low	3
citrulline	low	1
triamcinolone	low	1
cobalt	low	1
retinol	low	1
bromochloroacetic acid	low	3
vitamin k semiquinone radical	low	1
lysophosphatidic acid	low	1

Protein Targets (188)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	2	0	0	2
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
thioredoxin reductase	6	0	0	6
phosphopantetheinyl transferase	3	0	0	3
NFKB1 protein, partial	2	0	0	2
GLS protein	1	0	0	1
thyroid stimulating hormone receptor	3	0	0	3
alpha-galactosidase	1	0	0	1
euchromatic histone-lysine N-methyltransferase 2	4	0	0	4
cytochrome P450 2C19 precursor	1	0	0	1
chromobox protein homolog 1	3	0	0	3
flap endonuclease 1	1	0	0	1
DNA polymerase iota isoform a (long)	3	0	0	3
muscarinic acetylcholine receptor M1	1	0	0	1
lethal factor (plasmid)	2	0	0	2
Cytochrome P450 3A4	0	0	0	1
Nitric oxide synthase, endothelial	0	0	0	2
Nitric oxide synthase, brain	0	1	0	2
Nitric oxide synthase, brain	0	1	0	2
Nitric oxide synthase, inducible	0	0	0	1
Nitric oxide synthase, inducible	0	0	1	3
Cationic amino acid transporter 3	0	1	0	1
ATP-dependent phosphofructokinase	2	0	0	2
RAR-related orphan receptor gamma	4	0	0	4
AR protein	3	0	0	3
aldehyde dehydrogenase 1 family, member A1	3	0	0	3
nuclear receptor subfamily 1, group I, member 3	2	0	0	2
retinoic acid nuclear receptor alpha variant 1	2	0	0	2
thyroid stimulating hormone receptor	2	0	0	2
nuclear factor erythroid 2-related factor 2 isoform 1	3	0	0	3
Cellular tumor antigen p53	2	0	0	2
Nuclear receptor ROR-gamma	2	0	0	2
N(G),N(G)-dimethylarginine dimethylaminohydrolase 1	0	1	0	1
General amino-acid permease GAP1	0	0	0	1
Kappa-type opioid receptor	0	1	0	1
Lysophosphatidic acid receptor 6	0	0	1	1
Ectonucleotide pyrophosphatase/phosphodiesterase family member 2	0	2	0	2
Lysophosphatidic acid receptor 4	0	0	1	1
Lysophosphatidic acid receptor 1	0	0	2	2
Lysophosphatidic acid receptor 4	0	0	1	1
Lysophosphatidic acid receptor 5	0	0	1	1
Lysophosphatidic acid receptor 2	0	0	1	1
Lysophosphatidic acid receptor 3	0	0	1	1
USP1 protein, partial	3	0	0	3
cytochrome P450 2D6	1	0	0	1
transcriptional regulator ERG isoform 3	1	0	0	1
histone-lysine N-methyltransferase 2A isoform 2 precursor	1	0	0	1
geminin	5	0	0	5
peripheral myelin protein 22	3	0	0	3
survival motor neuron protein isoform d	2	0	0	2
histone acetyltransferase KAT2A isoform 1	3	0	0	3
lamin isoform A-delta10	2	0	0	2
ATP-binding cassette sub-family C member 3	0	1	0	1
Multidrug resistance-associated protein 4	0	1	0	1
Bile salt export pump	0	3	0	3
Inositol monophosphatase 1	1	0	0	1
TAR DNA-binding protein 43	1	0	0	1
Canalicular multispecific organic anion transporter 1	0	1	0	1
Chain A, PLASMA RETINOL-BINDING PROTEIN PRECURSOR	0	0	1	1
Chain A, Cruzipain	1	0	0	1
interleukin 8	1	0	0	1
acetylcholinesterase	1	0	0	1
15-lipoxygenase, partial	1	0	0	1
pregnane X receptor	1	0	0	1
SMAD family member 2	2	0	0	2
SMAD family member 3	2	0	0	2
TDP1 protein	1	0	0	1
GLI family zinc finger 3	2	0	0	2
Microtubule-associated protein tau	1	0	0	1
estrogen receptor 2 (ER beta)	1	0	0	1
glucocorticoid receptor [Homo sapiens]	2	0	0	2
retinoid X nuclear receptor alpha	2	0	0	2
estrogen-related nuclear receptor alpha	2	0	0	2
pregnane X nuclear receptor	2	0	0	2
estrogen nuclear receptor alpha	3	0	0	3
peroxisome proliferator-activated receptor delta	1	0	0	1
peroxisome proliferator activated receptor gamma	1	0	0	1
vitamin D (1,25- dihydroxyvitamin D3) receptor	1	0	0	1
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	2	0	0	2
vitamin D3 receptor isoform VDRA	2	0	0	2
parathyroid hormone/parathyroid hormone-related peptide receptor precursor	1	0	0	1
potassium voltage-gated channel subfamily H member 2 isoform d	1	0	0	1
thyroid hormone receptor beta isoform 2	1	0	0	1
heat shock protein beta-1	2	0	0	2
mitogen-activated protein kinase 1	1	0	0	1
ubiquitin carboxyl-terminal hydrolase 2 isoform a	1	0	0	1
nuclear receptor ROR-gamma isoform 1	1	0	0	1
cytochrome P450 3A4 isoform 1	2	0	0	2
Gamma-aminobutyric acid receptor subunit pi	2	0	0	2
Retinol-binding protein 4	0	0	1	1
Beta-lactoglobulin	0	0	1	1
Amyloid-beta precursor protein	0	1	0	1
Gamma-aminobutyric acid receptor subunit beta-1	2	0	0	2
Gamma-aminobutyric acid receptor subunit delta	2	0	0	2
Gamma-aminobutyric acid receptor subunit gamma-2	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-5	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-3	2	0	0	2
Gamma-aminobutyric acid receptor subunit gamma-1	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-2	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-4	2	0	0	2
Gamma-aminobutyric acid receptor subunit gamma-3	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-6	2	0	0	2
Alpha-synuclein	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-1	2	0	0	2
Gamma-aminobutyric acid receptor subunit beta-3	2	0	0	2
Gamma-aminobutyric acid receptor subunit beta-2	2	0	0	2
Disintegrin and metalloproteinase domain-containing protein 17	1	0	0	1
GABA theta subunit	2	0	0	2
Gamma-aminobutyric acid receptor subunit epsilon	2	0	0	2
Chain A, 2-oxoglutarate Oxygenase	1	0	0	1
chaperonin-containing TCP-1 beta subunit homolog	1	0	0	1
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	1	0	0	1
Estrogen receptor beta	0	0	0	1
Inhibitor of nuclear factor kappa-B kinase subunit beta	0	0	0	1
Solute carrier family 22 member 6	0	1	0	1
Polyphenol oxidase 2	0	1	0	2
Carbonic anhydrase 12	0	1	0	1
5'-AMP-activated protein kinase subunit beta-2	0	0	0	1
Bile salt export pump	0	1	0	1
Carbonic anhydrase 1	0	2	0	2
Carbonic anhydrase 2	0	2	0	2
Albumin	0	1	0	1
Polymerase acidic protein	0	0	1	1
Carbonic anhydrase 3	0	1	0	1
Stromelysin-1	0	0	1	1
Tyrosine-protein phosphatase YopH	0	1	0	1
High mobility group protein B1	0	0	1	1
Aldo-keto reductase family 1 member B1	0	1	0	1
Prolyl 4-hydroxylase subunit alpha-1	0	1	0	1
Tyrosine-protein phosphatase non-receptor type 1	0	1	0	3
Estrogen receptor	0	0	0	1
Acetylcholinesterase	0	1	0	1
Carbonic anhydrase 4	0	1	0	1
Prostaglandin G/H synthase 1	0	1	0	1
Carbonic anhydrase 6	0	1	0	1
Cystathionine gamma-lyase	0	1	0	1
Carbonic anhydrase 5A, mitochondrial	0	1	0	1
Prostaglandin G/H synthase 2	0	1	0	1
Carbonic anhydrase 7	0	1	0	1
5'-AMP-activated protein kinase subunit gamma-1	0	0	0	1
5'-AMP-activated protein kinase catalytic subunit alpha-2	0	0	0	1
Xanthine dehydrogenase/oxidase	0	1	0	1
5'-AMP-activated protein kinase catalytic subunit alpha-1	0	0	0	1
Carbonic anhydrase 9	0	1	0	1
Carbonic anhydrase	0	1	0	1
Solute carrier family 22 member 6	0	1	0	1
Solute carrier family 22 member 7	0	0	0	1
Nicotinate phosphoribosyltransferase	0	1	0	1
Solute carrier family 22 member 20	0	1	0	1
Solute carrier family 22 member 8	0	1	0	1
Solute carrier family 22 member 6	0	1	0	1
Ubiquitin-like domain-containing CTD phosphatase 1	0	1	0	1
Carbonic anhydrase 15	0	1	0	1
Carbonic anhydrase 13	0	1	0	1
5'-AMP-activated protein kinase subunit gamma-3	0	0	0	1
5'-AMP-activated protein kinase subunit gamma-2	0	0	0	1
Carbonic anhydrase 14	0	1	0	1
Carbonic anhydrase 5B, mitochondrial	0	1	0	1
5'-AMP-activated protein kinase subunit beta-1	0	0	0	1
Chain A, HADH2 protein	1	0	0	1
Chain B, HADH2 protein	1	0	0	1
glp-1 receptor, partial	1	0	0	1
ATAD5 protein, partial	1	0	0	1
thioredoxin glutathione reductase	2	0	0	2
Smad3	1	0	0	1
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	1	0	0	1
progesterone receptor	1	0	0	1
arylsulfatase A	1	0	0	1
Bloom syndrome protein isoform 1	1	0	0	1
peripheral myelin protein 22 isoform 1	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 2	1	0	0	1
procathepsin L isoform 1 preproprotein	0	1	0	1
muscleblind-like protein 1 isoform 1	1	0	0	1
Interferon beta	1	0	0	1
Glucocorticoid receptor	0	2	0	2
Glycine receptor subunit alpha-1	0	2	0	2
Cytochrome P450 2C9	0	1	0	1
Glycine receptor subunit beta	0	2	0	2
Glycine receptor subunit alpha-2	0	2	0	2
Glycine receptor subunit alpha-3	0	2	0	2
Cytochrome P450 2J2	0	1	0	1
ATPase family AAA domain-containing protein 5	1	0	0	1
Ataxin-2	1	0	0	1
Chain A, Beta-lactamase	1	0	0	1
Chain A, Ferritin light chain	1	0	0	1
Rap guanine nucleotide exchange factor 3	1	0	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Synonyms(2)

Research Excerpts

Overview

Research

Studies (11)

Protein Targets (188)

Monilethrix

Synonyms(2)

Research Excerpts

Overview

Research

Studies (11)

Drugs Studied (11)

Protein Targets (188)