Allan-herndon-dudley Syndrome

Description

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

Clinical Features

Top most frequent phenotypes and symptoms related to Allan-herndon-dudley Syndrome

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Abnormal facial shape
  • Muscular hypotonia

And another 77 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Allan-herndon-dudley Syndrome Is also known as x-linked intellectual disability-hypotonia syndrome, t3 resistance, allan-herndon syndrome, triiodothyronine resistance, monocarboxylate transporter 8 deficiency, mct8 deficiency, mental retardation and muscular atrophy, mental retardation, x-linked, with hypoto.

Researches and researchers

Doctors, researchs, and experts related to Allan-herndon-dudley Syndrome extracted from public data.

Allan-herndon-dudley Syndrome Experts map



Current Researchs and researchers

  • ILLKIRCH-GRAFFENSTADEN — Pr Jean-Louis MANDEL

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

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
      — CHU de Strasbourg - Hôpital Civil
    • Research area/topic::

      Réseau d'étude des retards mentaux et déficits cognitifs monogéniques


  • STRASBOURG — Pr Jean-Louis MANDEL

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

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
      — CHU de Strasbourg - Hôpital Civil
    • Research area/topic::

      Réseau d'étude des retards mentaux et déficits cognitifs monogéniques


  • BERLIN — Pr Heiko KRUDE

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Charité - Universitätsmedizin Berlin (CVK)
      — Charité - Universitätsmedizin Berlin (CVK)
    • Research area/topic::

      SPP 1629: THYROID TRANS ACT - Development of T3-peptide ligands to treat MCT8 deficiency via a Trojan horse like mechanism


  • BERLIN — Dr Eva K. WIRTH

    Investigator of research project

    • Institution/s:
      — Charité - Universitätsmedizin Berlin (CVK)
    • Research area/topic::

      SPP 1629: THYROID TRANS ACT - Cell type-specific inactivation of Mct8 in brain cells: Gene expression, metabolism, morphology


  • BONN — Dr Ulrich SCHWEIZER

    Investigator of research project

    • Institution/s:
      — Medizinische Fakultät der Universität Bonn
    • Research area/topic::

      SPP 1629: THYROID TRANS ACT - Structure and function of the thyroid hormone transporter MCT8


  • ESSEN — Pr Heike HEUER

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Universitätsklinikum Essen
    • Research area/topic::

      THYRONERVE: Allan-Herndon-Dudley Syndrome: Mechanisms of disease and therapeutic approaches in model organism (coordination) - DE



Mendelian

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Allan-herndon-dudley Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS XLID Panel.

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

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

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

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Allan-Herndon-Dudley syndrome.

By Center for Human Genetics, Inc (United States).

SLC16A2
Specificity
100 %
Genes
100 %
X-Linked Intellectual Disabilities Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
X-linked Intellectual Disabilities Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
MCT8 sequencing and deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago (United States).

SLC16A2
Specificity
100 %
Genes
100 %
Hereditary Spastic Paraplegia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, VAMP1, ERLIN2, CAPN1, BSCL2, PNPLA6, ERLIN1, NIPA1, GJC2, EXOSC3, SPART, CPT1C , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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