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
  • Peripheral neuropathy
  • Delayed speech and language development
  • Dysarthria
And another 66 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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 in United States.

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17
Specificity
8 %
Genes
100 %
Dystonia.

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

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

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 in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...)

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 in United States.

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17
Specificity
8 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.

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

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17
Specificity
8 %
Genes
100 %
DCAF17 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

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

By Genetic Services Laboratory University of Chicago in United States.

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

By Genetic Services Laboratory University of Chicago in United States.

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

By Genetic Services Laboratory University of Chicago in United States.

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

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Woodhouse-Sakati syndrome (sequence analysis of DCAF17 gene).

By CGC Genetics in Portugal.

DCAF17
Specificity
100 %
Genes
100 %
Woodhouse-Sakati Syndrome via DCAF17 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DCAF17
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, NALCN, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Epileptic Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, AMACR, POLG, PANK2, MECP2, GAMT, STXBP1, SLC25A22, GLDC, HEXA, HEXB, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA).

By MGZ Medical Genetics Center in Germany.

PANK2, PLA2G6, ATL1, SPAST, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, DCAF17, IBA57
Specificity
9 %
Genes
100 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Hypogonadism, alopecia, Diabetes mellitus, mental retardation, and extrapyramidal syndrome.

By Centogene AG - the Rare Disease Company in Germany.

DCAF17
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel.

By CeGaT GmbH in Germany.

PANK2, SCP2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, COASY, DCAF17, SLC25A42, REPS1
Specificity
8 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation.

By Asper Biogene Asper Biogene LLC in Estonia.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14
Specificity
6 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14
Specificity
6 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, SLC39A14
Specificity
7 %
Genes
100 %
Invitae Neurodegeneration with Brain Iron Accumulation Panel.

By Invitae in United States.

PANK2, SQSTM1, PLA2G6, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
Genes
100 %
Woodhouse-Sakati syndrome: DCAF17 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

DCAF17
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation Disorders.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, DCAF17
Specificity
12 %
Genes
100 %
NGS panel - Neurodegeneration with brain iron accumulation.

By Genome Diagnostics VU University Medical Center in Netherlands.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
Genes
100 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
DCAF17.

By Fulgent Genetics Fulgent Genetics in United States.

DCAF17
Specificity
100 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
Dystonia Panel.

By Blueprint Genetics in Finland.

SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, FA2H, ATP1A3, PRRT2, DCAF17, PRKRA, PDGFRB, PDGFB, KMT2B, ANO3, BCAP31, GNAL, ADCY5
Specificity
5 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, DCAF17
Specificity
12 %
Genes
100 %
DCAF17 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

DCAF17
Specificity
100 %
Genes
100 %
Woodhouse-Sakati Syndrome , Sequencing DCAF17.

By Reference Laboratory Genetics in Spain.

DCAF17
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
Genes
100 %
Neurodegeneration Associated to Pantothenate Kinase , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, DCAF17
Specificity
12 %
Genes
100 %
Woodhouse-Sakati Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

DCAF17
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

Alternate 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 syndrome.



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