Details of Disease

General Information of Disease (ID: DISJJV50)

Disease Name Menkes disease
Synonyms
Menkea syndrome; copper transport disease; Mk; X-linked copper deficiency; Menkes disease; kinky hair disease; MD; Trichopoliodystrophy; steely hair syndrome; steely hair disease; kinky hair syndrome; Menkes syndrome; menkes disease, X-linked recessive; Menkes kinky hair syndrome; Menkes kinky-hair syndrome; MNK
Disease Class 5C64: Mineral absorption/transport disorder
Definition A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
Disease Hierarchy
DISXHPKM: Copper metabolism disorder
DIS6SVEE: Syndromic disease
DIS0HB59: Inborn metal metabolism disorder
DISJJV50: Menkes disease
ICD Code
ICD-11
ICD-11: 5C64.0
ICD-10
ICD-10: E83.0
Disease Identifiers
MONDO ID
MONDO_0010651
MESH ID
D007706
UMLS CUI
C0022716
OMIM ID
309400
MedGen ID
44030
Orphanet ID
565
SNOMED CT ID
59178007

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
CUTX-101 DMV7K3Z Phase 3 Small molecular drug [1]
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This Disease is Treated as An Indication in 134 Patented Agent(s)
Drug Name Drug ID Highest Status Drug Type REF
3-(phenoxymethyl) benzylamine derivative 1 DM9YJWU Patented Small molecular drug [2]
3-(phenoxymethyl) benzylamine derivative 2 DMGN9IX Patented Small molecular drug [2]
3-(phenoxymethyl) benzylamine derivative 3 DM43EKN Patented Small molecular drug [2]
3-(phenoxymethyl) benzylamine derivative 4 DM58X6N Patented Small molecular drug [2]
3-(phenoxymethyl) benzylamine derivative 5 DM84HG2 Patented Small molecular drug [2]
3-(phenoxymethyl) benzylamine derivative 6 DM0WBM3 Patented Small molecular drug [2]
Aromatic hydrazine carboxyimidoamide derivative 1 DMJ8X7A Patented Small molecular drug [2]
Aromatic hydrazine carboxyimidoamide derivative 2 DMYH4D1 Patented Small molecular drug [2]
Aromatic hydrazine carboxyimidoamide derivative 3 DML63B7 Patented Small molecular drug [2]
Aromatic hydrazine carboxyimidoamide derivative 4 DMKE5PB Patented Small molecular drug [2]
Aromatic hydrazine carboxyimidoamide derivative 5 DM4AM1E Patented Small molecular drug [2]
Aromatic hydrazine carboxyimidoamide derivative 6 DM8HDQT Patented Small molecular drug [2]
Benzimidazole derivative 3 DMY93WG Patented Small molecular drug [2]
Benzimidazole derivative 4 DM9PL3F Patented Small molecular drug [2]
Benzoic acid linked peptide analog 1 DMND8R0 Patented Peptide [2]
Benzoic acid linked peptide analog 2 DMUBG20 Patented Peptide [2]
Benzoic acid linked peptide analog 3 DM42BU9 Patented Peptide [2]
Benzoic acid linked peptide analog 4 DMNX5EU Patented Peptide [2]
Benzoic acid linked peptide analog 5 DMNIZAR Patented Peptide [2]
Benzoic acid linked peptide analog 6 DMTHKES Patented Peptide [2]
Benzothiazole analog 1 DMHXFCQ Patented Small molecular drug [2]
Benzothiazole analog 2 DMUKNXF Patented Small molecular drug [2]
Benzothiazole analog 3 DMDLY38 Patented Small molecular drug [2]
Benzothiazole analog 4 DMNDAT0 Patented Small molecular drug [2]
Benzothiazole analog 5 DMN1J09 Patented Small molecular drug [2]
Benzothiazoline derivative 1 DMJDC5T Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 1 DM79WI1 Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 10 DMRXMCH Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 11 DMVPR1D Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 12 DMOHBCN Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 13 DMKDBQG Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 14 DMWUAXM Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 2 DMAEQ0I Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 3 DMGV8T9 Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 4 DMNQF9S Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 5 DMBC48K Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 6 DMK9XV8 Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 7 DMES41R Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 8 DMRIPVG Patented Small molecular drug [2]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 9 DM7U20W Patented Small molecular drug [2]
Cyclohexyl carbamate derivative 1 DMORFPT Patented Small molecular drug [2]
Cyclohexyl carbamate derivative 2 DM6VPIR Patented Small molecular drug [2]
Cyclohexyl carbamate derivative 3 DMVIZTY Patented Small molecular drug [2]
Cyclohexyl carbamate derivative 4 DMLD49W Patented Small molecular drug [2]
Cyclohexyl carbamate derivative 5 DMS68DP Patented Small molecular drug [2]
Cyclohexyl carbamate derivative 6 DMSD2TN Patented Small molecular drug [2]
Cyclohexyl carbamate derivative 7 DM2URPE Patented Small molecular drug [2]
Cyclohexyl carbamate derivative 8 DMB9DEO Patented Small molecular drug [2]
Diamine derivative 1 DMUG69Q Patented Small molecular drug [2]
Diamine derivative 2 DMQEYTJ Patented Small molecular drug [2]
Diamine derivative 3 DMSYX4U Patented Small molecular drug [2]
Dihydroxyfumaric acid derivative 1 DMAH1EP Patented Small molecular drug [2]
Monoamine derivative 1 DMRWNAY Patented Small molecular drug [2]
Monoamine derivative 2 DMAZ6DI Patented Small molecular drug [2]
Monoamine derivative 3 DM4I75L Patented Small molecular drug [2]
Monoamine derivative 4 DMYFKP2 Patented Small molecular drug [2]
Monoamine derivative 5 DM3PF60 Patented Small molecular drug [2]
Nicotinyl hydroxamic acid derivative 1 DMW2LD5 Patented Small molecular drug [2]
P-coumaric acid derivative 1 DM231WS Patented Small molecular drug [2]
P-coumaric acid derivative 2 DMFTZBY Patented Small molecular drug [2]
P-coumaric acid derivative 3 DMFE4IY Patented Small molecular drug [2]
P-coumaric acid derivative 4 DM5WQP3 Patented Small molecular drug [2]
P-coumaric acid derivative 5 DMFKGZ7 Patented Small molecular drug [2]
P-coumaric acid derivative 6 DMF4YGC Patented Small molecular drug [2]
PMID26815044-Compound-114 DMOJ936 Patented Small molecular drug [2]
PMID26815044-Compound-115 DM8SWHO Patented Small molecular drug [2]
PMID26815044-Compound-116 DMDUXRT Patented Small molecular drug [2]
PMID26815044-Compound-117 DM2GON6 Patented Small molecular drug [2]
PMID26815044-Compound-118 DMC28VB Patented Small molecular drug [2]
PMID26815044-Compound-121 DMMNXA1 Patented Small molecular drug [2]
PMID26815044-Compound-122 DM1HAGJ Patented Small molecular drug [2]
PMID26815044-Compound-123 DMFTE3Y Patented Small molecular drug [2]
PMID26815044-Compound-124 DM25WGP Patented Small molecular drug [2]
PMID26815044-Compound-125 DM6EFIN Patented Small molecular drug [2]
PMID26815044-Compound-126 DMMJK0L Patented Small molecular drug [2]
PMID26815044-Compound-127 DMO97LR Patented Small molecular drug [2]
PMID26815044-Compound-30 DMH8E7S Patented Small molecular drug [2]
PMID26815044-Compound-31 DMBINQ9 Patented Small molecular drug [2]
PMID26815044-Compound-32 DMN5H3C Patented Small molecular drug [2]
PMID26815044-Compound-47 DMM3FJO Patented Small molecular drug [2]
PMID26815044-Compound-48 DMJ1Z7U Patented Small molecular drug [2]
PMID26815044-Compound-49 DMD9WRS Patented Small molecular drug [2]
PMID26815044-Compound-50 DMYI1SX Patented Small molecular drug [2]
PMID26815044-Compound-51 DMQGTJ5 Patented Small molecular drug [2]
PMID26815044-Compound-52 DMN4C2O Patented Small molecular drug [2]
PMID26815044-Compound-64 DMEKBOG Patented Small molecular drug [2]
PMID26815044-Compound-93 DMV46DG Patented Small molecular drug [2]
PMID26815044-Compound-H DMI3QLT Patented Small molecular drug [2]
PMID26815044-Compound-I DMZISDR Patented Small molecular drug [2]
Polyhydroxy benzamide derivative 1 DMPHCJ5 Patented Small molecular drug [2]
Polyhydroxy benzamide derivative 2 DM0BRNU Patented Small molecular drug [2]
Polyhydroxy benzamide derivative 3 DMCLZWS Patented Small molecular drug [2]
Polyhydroxy benzamide derivative 4 DM6QBV2 Patented Small molecular drug [2]
Polyhydroxy benzamide derivative 5 DMZC6AI Patented Small molecular drug [2]
Resorcinol compound 1 DMG4FYP Patented Small molecular drug [2]
Resorcinol compound 10 DMPA26U Patented Small molecular drug [2]
Resorcinol compound 11 DMGDLPZ Patented Small molecular drug [2]
Resorcinol compound 12 DMEMT3I Patented Small molecular drug [2]
Resorcinol compound 13 DMVARUE Patented Small molecular drug [2]
Resorcinol compound 14 DM6XFA5 Patented Small molecular drug [2]
Resorcinol compound 15 DMSLYVT Patented Small molecular drug [2]
Resorcinol compound 16 DMFDXBJ Patented Small molecular drug [2]
Resorcinol compound 17 DMFR4S0 Patented Small molecular drug [2]
Resorcinol compound 18 DM64R2K Patented Small molecular drug [2]
Resorcinol compound 19 DMJIZPQ Patented Small molecular drug [2]
Resorcinol compound 2 DMGDQYW Patented Small molecular drug [2]
Resorcinol compound 20 DME4OGJ Patented Small molecular drug [2]
Resorcinol compound 21 DM8EQPJ Patented Small molecular drug [2]
Resorcinol compound 22 DMSW3GB Patented Small molecular drug [2]
Resorcinol compound 23 DMU3APC Patented Small molecular drug [2]
Resorcinol compound 24 DM2IKDL Patented Small molecular drug [2]
Resorcinol compound 25 DMEZUN7 Patented Small molecular drug [2]
Resorcinol compound 26 DMT21JG Patented Small molecular drug [2]
Resorcinol compound 27 DM71R3T Patented Small molecular drug [2]
Resorcinol compound 28 DMCHLAN Patented Small molecular drug [2]
Resorcinol compound 29 DML7ONU Patented Small molecular drug [2]
Resorcinol compound 3 DMPTK0G Patented Small molecular drug [2]
Resorcinol compound 30 DMMTVN4 Patented Small molecular drug [2]
Resorcinol compound 31 DMSPCLD Patented Small molecular drug [2]
Resorcinol compound 32 DM2RPYB Patented Small molecular drug [2]
Resorcinol compound 33 DMLJYS1 Patented Small molecular drug [2]
Resorcinol compound 34 DMQF90E Patented Small molecular drug [2]
Resorcinol compound 4 DMIM9EY Patented Small molecular drug [2]
Resorcinol compound 5 DMQ5TYK Patented Small molecular drug [2]
Resorcinol compound 6 DM809YH Patented Small molecular drug [2]
Resorcinol compound 7 DM031RU Patented Small molecular drug [2]
Resorcinol compound 8 DMLF53V Patented Small molecular drug [2]
Resorcinol compound 9 DMCJO0R Patented Small molecular drug [2]
Thiazole derivative 1 DM2WDXV Patented Small molecular drug [2]
Thiazolidine derivative 1 DM05VO6 Patented Small molecular drug [2]
Thiazolidine derivative 2 DM73GNJ Patented Small molecular drug [2]
Thiazolidine derivative 3 DMXFGTZ Patented Small molecular drug [2]
Thiazoline derivative 1 DM86HU3 Patented Small molecular drug [2]
Thiazoline derivative 2 DMXRE1V Patented Small molecular drug [2]
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⏷ Show the Full List of 134 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ATP7B TTOPO51 Limited Biomarker [3]
DBH TTYIP79 moderate Biomarker [4]
LOX TTQHNAM Strong Altered Expression [5]
MKNK1 TTEZAUX Strong Biomarker [6]
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This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ATP7A DT0LT17 Definitive X-linked [7]
ATP7A DT0LT17 Definitive Biomarker [8]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PGK1 OT6V1ICH Limited CausalMutation [9]
COMMD1 OT7WUD5R Strong Biomarker [10]
CP OTM8JE4Y Strong Biomarker [11]
GYPB OTESHUIX Strong Genetic Variation [12]
ATP7A OTMR3GXP Definitive X-linked [7]
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References

1 Clinical pipeline report, company report or official report of Cyprium Therapeutics.
2 Tyrosinase inhibitors: a patent review (2011-2015).Expert Opin Ther Pat. 2016;26(3):347-62.
3 Disorders of heavy metals.Handb Clin Neurol. 2014;120:851-64. doi: 10.1016/B978-0-7020-4087-0.00057-7.
4 Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease.Neurochem Res. 2009 Aug;34(8):1464-8. doi: 10.1007/s11064-009-9933-8. Epub 2009 Feb 21.
5 Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.Stem Cell Res Ther. 2015 Sep 7;6(1):160. doi: 10.1186/s13287-015-0147-5.
6 Solution structures of the reduced and Cu(I) bound forms of the first metal binding sequence of ATP7A associated with Menkes disease. Proteins. 2005 Dec 1;61(4):1038-49.
7 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
8 Report of a novel ATP7A mutation causing distal motor neuropathy.Neuromuscul Disord. 2019 Oct;29(10):776-785. doi: 10.1016/j.nmd.2019.08.008. Epub 2019 Aug 23.
9 Splice site mutations in the ATP7A gene.PLoS One. 2011 Apr 11;6(4):e18599. doi: 10.1371/journal.pone.0018599.
10 The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.Cell Mol Life Sci. 2012 Jan;69(1):149-63. doi: 10.1007/s00018-011-0743-1. Epub 2011 Jun 11.
11 Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030.
12 Studies on human red-cell membrane glycophorin A and glycophorin B genes in glycophorin-deficient individuals.Biochem J. 1989 Nov 1;263(3):993-6. doi: 10.1042/bj2630993.