Barth Syndrome

Description

Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

Clinical Features

Top most frequent phenotypes and symptoms related to Barth Syndrome

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy
  • Gait disturbance
  • Fatigue

And another 73 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 BARTH SYNDROME have a estimated prevalence of 0.22 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Barth Syndrome Is also known as bths, 3-methylglutaconic aciduria type 2, mgca2, x-linked cardioskeletal myopathy and neutropenia, cardioskeletal myopathy with neutropenia and abnormal mitochondria, mga2, mga, type ii, cardioskeletal myopathy-neutropenia syndrome, 3-methylglutaconic aciduria, t.

Researches and researchers

Doctors, researchs, and experts related to Barth Syndrome extracted from public data.

Barth Syndrome Experts map



Current Researchs and researchers

  • BERLIN — Dr Ulrike BAUER

    Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Kompetenznetz Angeborene Herzfehler
      — Kompetenznetz Angeborene Herzfehler
    • Research area/topic::

      Competence Network for Congenital Heart Defects


  • HANNOVER — Pr Karl H. WELTE

    Clinical expert - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Coordinator of patient registry network - Director of department

    • Institution/s:
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
      — Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
      — Universitätsklinik für Kinder- und Jugendmedizin Tübingen
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
    • Research area/topic::

      BMFS: Network for Congenital Bone Marrow Failure Syndromes


  • TÜBINGEN — Pr Karl H. WELTE

    Clinical expert - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Coordinator of patient registry network - Director of department

    • Institution/s:
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
      — Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
      — Universitätsklinik für Kinder- und Jugendmedizin Tübingen
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
    • Research area/topic::

      BMFS: Network for Congenital Bone Marrow Failure Syndromes


  • BRISTOL — Dr Ruth A NEWBURY-ECOB

    Clinical expert - Investigator of research project

    • Institution/s:
      — University Hospitals Bristol, St Michael's Hospital
      — University Hospitals Bristol NHS Foundation Trust, Bristol Royal Hospital for Children
      — St Michael's Hospital
    • Research area/topic::

      Clinical and molecular genetics study of Barth syndrome



Mendelian

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Barth Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
50 %
TAZ Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TAZ
Specificity
100 %
Genes
50 %
TAZ Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TAZ
Specificity
100 %
Genes
50 %
TAZ Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TAZ
Specificity
100 %
Genes
50 %
Fatty Acid Oxidation Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, HADHA, HADHB, ACADL, ACADM, ACADS, ACADVL
Specificity
6 %
Genes
50 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
50 %
Dilated cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %

We have 184 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 Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEVUS, EPIDERMAL FG SYNDROME 2; FGS2 C1q DEFICIENCY; C1QD DERMATOFIBROSARCOMA PROTUBERANS; DFSP MESOTHELIOMA, MALIGNANT; MESOM MOWAT-WILSON SYNDROME; MOWS

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