Familial Dysautonomia

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Familial Dysautonomia

ELP1
HEXA
GBA

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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.

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Incidence and onset information

— 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

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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 Panel 4 complete gene list RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK, TGM1, TH, TTPA, UBE3A, UGT1A1, USH1C, USH2A, CLRN1, WAS, MCOLN1, NPHS2, CDH23, PCDH15, CAPN3, CBS, HPS3, LRPPRC, RTEL1, MLC1, DCLRE1C, ADA, CFTR, CHAT, POMGNT1, CHRNE, SUMF1, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, ADAMTS2, COL4A3, CPT1A, ETHE1, CPT2, GNE, MMACHC, TMEM216, CTNS, CTSK, CYBB, CYP1B1, CYP27A1, BBS10, DOK7, DBT, DHCR7, DLD, DMD, GNPTAB, DPYD, AGA, AGL, EIF2B5, AGXT, FAH, FANCC, FKTN, FH, FMR1, ALDH3A2, G6PC, G6PD, SLC37A4, GAA, GALC, GALT, ALDOB, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, ALPL, GRHPR, AMT, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HMGCL, HSD17B4, IDUA, ABCC8, ELP1, IL2RG, ABCD1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, MECP2, ARSA, MPI, MPL, ASL, MTTP, ASPA, ASS1, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, ATM, OCRL, OTC, PAH, PC, PCCA, PCCB, ATP7B, SLC26A4, PEX1, PEX7, ACADM, PHGDH, SERPINA1, PKHD1, PLA2G6, PMM2, POLG, ACADVL, PPT1, PROP1, BBS1, BBS2, PTS, PEX2, BCKDHA, RAPSN, BCKDHB 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 Panel 5 complete gene list RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1, TH, TTPA, UBE3A, UGT1A1, USH1C, USH2A, CLRN1, WAS, MCOLN1, NPHS2, CDH23, PCDH15, CAPN3, CBS, HPS3, LRPPRC, RTEL1, MLC1, DCLRE1C, ADA, CFTR, CHAT, POMGNT1, CHRNE, SUMF1, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, ADAMTS2, COL4A3, CPT1A, ETHE1, CPT2, GNE, MMACHC, TMEM216, CTNS, CTSK, CYP1B1, CYP27A1, BBS10, DOK7, DBT, DHCR7, DLD, GNPTAB, DPYD, AGA, AGL, EIF2B5, AGXT, FAH, FANCC, FKTN, FH, ALDH3A2, G6PC, SLC37A4, GAA, GALC, GALT, ALDOB, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, ALPL, GRHPR, AMT, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HMGCL, HSD17B4, IDUA, ABCC8, ELP1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, ARSA, MPI, MPL, ASL, MTTP, ASPA, ASS1, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, ATM, PAH, PC, PCCA, PCCB, ATP7B, SLC26A4, PEX1, PEX7, ACADM, PHGDH, SERPINA1, PKHD1, PLA2G6, PMM2, POLG, ACADVL, PPT1, PROP1, BBS1, BBS2, PTS, PEX2, BCKDHA, RAPSN, BCKDHB 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 Panel 6 complete gene list BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC, FKTN, FMR1, G6PC, GALT, GBA, HEXA, ABCC8, ELP1, MPL, MTTP, ASPA, NEB, ATP7B, PHGDH, PKHD1, PMM2, BBS2, PEX2, BCKDHB 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 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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