Woodhouse-sakati Syndrome

Description

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

Clinical Features

Top most frequent phenotypes and symptoms related to Woodhouse-sakati Syndrome

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cognitive impairment
  • High palate
  • Delayed speech and language development
  • Peripheral neuropathy

And another 65 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

Woodhouse-sakati Syndrome Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia, diabetes-hypogonadism-deafness-intellectual disability s.

Researches and researchers

Doctors, researchs, and experts related to Woodhouse-sakati Syndrome extracted from public data.

Woodhouse-sakati Syndrome Experts map



Current Researchs and researchers

  • PARIS — Dr Geneviève DE SAINT-BASILE - CHAZELAS

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — INSERM U 768 - Centre de référence pour les déficits immunitaires héréditaires, CHU Paris - Hôpital Necker-Enfants Malades
      — CHU Paris - Hôpital Necker-Enfants Malades
    • Research area/topic::

      Genetic basis of various phenotypes segregating in a large inbred family


  • LONDON — Dr Edmund JESSOP

    Coordinator of research network

    • Institution/s:
      — Department of Health
    • Research area/topic::

      RASopathy network: disorders of the Ras-MAPK pathway



Mendelian

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Woodhouse-sakati Syndrome 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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
DCAF17 sequencing.

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

DCAF17
Specificity
100 %
Genes
100 %
DCAF17 deletion/duplication analysis.

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

DCAF17
Specificity
100 %
Genes
100 %
NBIA Deletion/Duplication Analysis.

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

PANK2, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, PLA2G6
Specificity
10 %
Genes
100 %

We have 39 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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