Hanac Syndrome

Description

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.

Clinical Features

Top most frequent phenotypes and symptoms related to Hanac Syndrome

  • Seizures
  • Strabismus
  • Cataract
  • Flexion contracture
  • Visual impairment
  • Cerebellar atrophy
  • Renal insufficiency
  • Headache
  • Dilatation
  • Visual loss

And another 25 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

Hanac Syndrome Is also known as hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome, autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome.

Researches and researchers

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

Hanac Syndrome Experts map



Current Researchs and researchers

  • LEUVEN — Pr Elena N LEVTCHENKO

    Coordinator of expert centre - Investigator of research project

    • Institution/s:
      — Department of Pediatrics, University Hospitals Leuven - Gasthuisberg
    • Research area/topic::

      EUNEFRON: rare disorders of the proximal tubule (WP2)


  • AARHUS — Pr Eric Ilso CHRISTENSEN

    Investigator of research project

    • Institution/s:
      — Institut for Biomedicin, Aarhus Universitet
    • Research area/topic::

      EUNEFRON: rare disorders of the proximal tubule (WP2)



Mendelian

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Hanac Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
COL4A1 Sequencing Test (CSVD).

By Athena Diagnostics Inc (United States).

COL4A1
Specificity
100 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc (United States).

SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Optic Atrophy and Early Glaucoma Panel.

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

SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Comprehensive Brain Malformation Panel.

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

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Migraine and Strokes Panel.

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

SCN1A, SLC2A1, CACNA1A, COL4A1, NOTCH3, ATP1A2, POLG, HTRA1
Specificity
13 %
Genes
100 %
Septo-Optic Dysplasia and Schizencephaly.

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

SHH, SIX3, SOX2, COL4A1, EMX2, HESX1
Specificity
17 %
Genes
100 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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