Menkes Disease

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Menkes disease (MD) is 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.

Genes related to Menkes Disease

CP
ATP7A

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Menkes Disease

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Microcephaly
Growth delay
Failure to thrive
Micrognathia
Muscle weakness

And another 89 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available MENKES DISEASE have a estimated birth prevalence of 0.33 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Menkes Disease Is also known as steely hair syndrome, md, trichopoliodystrophy, mnk, menkes syndrome, steely hair disease, copper transport disease, mk, kinky hair syndrome, x-linked copper deficiency, kinky hair disease.

Researches and researchers

Doctors, researchs, and experts related to Menkes Disease extracted from public data.

Menkes Disease Experts map

Current Researchs and researchers

ESPLUGUES DE LLOBREGAT — Pr Francesc PALAU
Clinical geneticist - Genetic counsellor - Investigator of research project - Manager of biobank/collection - Coordinator of research network - Director of department
- Institution/s:
  — Servicio de Neurología, Hospital Sant Joan de Déu Barcelona
  — Hospital Sant Joan de Déu Barcelona
  — Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia (CSIC)
  — Servicio de Medicina Genética y Molecular, Hospital Sant Joan de Déu Barcelona
  — Hospital Sant Joan de Déu Barcelona
  — ISCIII - Instituto de Salud Carlos III
- Research area/topic::
  Connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model

MADRID — Pr Francesc PALAU
Clinical geneticist - Genetic counsellor - Investigator of research project - Manager of biobank/collection - Coordinator of research network - Director of department
- Institution/s:
  — Servicio de Neurología, Hospital Sant Joan de Déu Barcelona
  — Hospital Sant Joan de Déu Barcelona
  — Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia (CSIC)
  — Servicio de Medicina Genética y Molecular, Hospital Sant Joan de Déu Barcelona
  — Hospital Sant Joan de Déu Barcelona
  — ISCIII - Instituto de Salud Carlos III
- Research area/topic::
  Connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model

VALENCIA — Pr Francesc PALAU
Clinical geneticist - Genetic counsellor - Investigator of research project - Manager of biobank/collection - Coordinator of research network - Director of department
- Institution/s:
  — Servicio de Neurología, Hospital Sant Joan de Déu Barcelona
  — Hospital Sant Joan de Déu Barcelona
  — Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia (CSIC)
  — Servicio de Medicina Genética y Molecular, Hospital Sant Joan de Déu Barcelona
  — Hospital Sant Joan de Déu Barcelona
  — ISCIII - Instituto de Salud Carlos III
- Research area/topic::
  Connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model

Menkes Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6 Specificity 8 % Genes 50 %
Dystonia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...) View the complete list with 57 more genes Panel complete gene list SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX, SLC19A3, TPK1, TREM2, ARX, RNASEH2A, VPS13A, L2HGDH, THAP1, FA2H, PDHX, ADAR, CP, RNASEH2C, CHMP2B, MMADHC, C19orf12, RNASEH2B, DCAF17, CYP27A1, FOXRED1, DDC, WDR45, DLAT, FASTKD2, EARS2, ATP13A2, DRD2, DRD5, PRRT2, SLC46A1, TOR1A, AFG3L2, SDHAF1, ERCC6, FOXG1, GAMT, GCDH, GCH1, MR1, HPRT1, AP1S2, KCNQ2, MAT1A, ARSA, MPV17, ATM, ATP1A2, ATP1A3, PRKN, ATP7B, AUH, PLP1, PNKD, PSEN1, PTEN, PTS, QDPR Specificity 2 % Genes 50 %
Maturity-Onset Diabetes of the Young. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS , (...) View the complete list with 5 more genes Panel complete gene list BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS, FOXP3, PDX1, KCNJ11, NEUROD1, PAX4 Specificity 4 % Genes 50 %
Movement Disorders Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...) View the complete list with 72 more genes Panel complete gene list SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX, SLC19A3, PARK7, TRIM32, TPK1, TREM2, ARX, RNASEH2A, LRRK2, VPS13A, L2HGDH, THAP1, FA2H, PDHX, ADAR, CP, RNASEH2C, CSF1R, CHMP2B, MMADHC, C19orf12, RNASEH2B, DCAF17, CYP27A1, FOXRED1, DCTN1, DDC, WDR45, DLAT, FASTKD2, EARS2, ATP13A2, DRD2, DRD5, PRRT2, SLC46A1, TOR1A, AFG3L2, SDHAF1, ERCC6, FOXG1, FTL, FUCA1, GAMT, GBA, GCDH, GCH1, MR1, HPRT1, AP1S2, KCNQ2, MAPT, MAT1A, ARSA, MPV17, ATM, ATP1A2, ATP1A3, PRKN, ATP7B, KIF1A, AUH, PLA2G6, PLP1, PNKD, POLG, PSEN1, PTEN, PTS, QDPR Specificity 2 % Genes 50 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6 Specificity 8 % Genes 50 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6 Specificity 8 % Genes 50 %
CP deletion/duplication analysis. By Genetic Services Laboratory University of Chicago (United States). CP Specificity 100 % Genes 50 %
CP sequencing. By Genetic Services Laboratory University of Chicago (United States). CP Specificity 100 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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