Menkes Disease

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.

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



Mendelian

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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
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
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
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 %

We have 173 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED CILIARY DYSKINESIA, PRIMARY, 5; CILD5 HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE GLYCOGEN STORAGE DISEASE 0, LIVER; GSD0A THREE M SYNDROME 1; 3M1 EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

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