Familial Dysautonomia

Description

Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an inherited disorder characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction.

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Dysautonomia

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Growth delay
  • Muscular hypotonia
  • Pain
  • Hypertension
  • Peripheral neuropathy
  • Myopia

And another 64 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Familial Dysautonomia Is also known as dysautonomia, familial, dys, hereditary sensory and autonomic neuropathy type iii, hereditary sensory and autonomic neuropathy type 3, hsan3, hsan iii, fd, riley-day syndrome.

Researches and researchers

Doctors, researchs, and experts related to Familial Dysautonomia extracted from public data.

Familial Dysautonomia Experts map



Current Researchs and researchers

  • MARSEILLE — Dr El Chérif IBRAHIM

    Investigator of research project

    • Institution/s:
      — CNRS UMR7286 - Institut Jean Roche (IFR 11), Faculté de médecine de Marseille - Secteur Nord
    • Research area/topic::

      Understanding the molecular mechanisms underlying familial dysautonomia



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Familial Dysautonomia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ashkenazic Genetic Disease Panel.

By Baylor Miraca Genetics Laboratories (United States).

CFTR, HEXA, ELP1, ASPA
Specificity
50 %
Genes
67 %
Ashkenazic Genetic Disease Screen (with Cystic Fibrosis).

By Baylor Miraca Genetics Laboratories (United States).

SMPD1, FANCC, GBA, ELP1, ASPA
Specificity
40 %
Genes
67 %
Ashkenazic Genetic Disease Screen (without Cystic Fibrosis).

By Baylor Miraca Genetics Laboratories (United States).

SMPD1, FANCC, GBA, ELP1, ASPA
Specificity
40 %
Genes
67 %
Familial Dysautonomia Ashkenazic Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

ELP1
Specificity
100 %
Genes
34 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
2 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
3 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
8 %
Genes
100 %
GeneAware ACMG/ACOG Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SMN1, SMPD1, MCOLN1, CFTR, FANCC, GBA, HBA1, HBA2, HBB, HEXA, ELP1, ASPA
Specificity
24 %
Genes
100 %

We have 231 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NOONAN SYNDROME 7; NS7 PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more