Holt-oram Syndrome

Table of contents:

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

Description

Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.

Genes related to Holt-oram Syndrome

TBX5

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Holt-oram Syndrome

Scoliosis
Ventricular septal defect
Atrial septal defect
Kyphosis
Abnormality of cardiovascular system morphology
Pectus excavatum
Patent ductus arteriosus
Arrhythmia
Joint stiffness
Abnormal cardiac septum morphology

And another 40 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available HOLT-ORAM SYNDROME have a estimated birth prevalence of 0.7 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Holt-oram Syndrome Is also known as heart-hand syndrome type 1, atriodigital dysplasia type 1, hos.

Researches and researchers

Doctors, researchs, and experts related to Holt-oram Syndrome extracted from public data.

Holt-oram Syndrome Experts map

Current Researchs and researchers

VILLENEUVE D'ASCQ — Pr Pascal ANTOINE
Investigator of research project
- Institution/s:
  — Sciences Cognitives & Sciences Affectives, Université Lille 3
- Research area/topic::
  Impact of three rare genetic diseases: comparative and exploratory psychosocial research

Holt-oram Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Holt-Oram Syndrome - TBX5 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). TBX5 Specificity 100 % Genes 100 %
Holt-Oram Syndrome - TBX5 Del/dup Analysis. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). TBX5 Specificity 100 % Genes 100 %
TBX5 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). TBX5 Specificity 100 % Genes 100 %
Congenital Heart Disease Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). TBX1, TBX5, NKX2-5 Specificity 34 % Genes 100 %
Prenatal TBX5 Gene Sequencing. By GeneDx (United States). TBX5 Specificity 100 % Genes 100 %
TBX5 Gene Sequencing. By GeneDx (United States). TBX5 Specificity 100 % Genes 100 %
CardioNext with TTN. By Ambry Genetics (United States). RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB3, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR , (...) View the complete list with 65 more genes Panel complete gene list RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB3, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, CACNA1C, CACNA2D1, CACNB2, JPH2, ACTC1, CALM1, CASQ2, CAV3, LDB3, ANKRD1, ACTN2, HCN4, TRPM4, TXNRD2, SCN3B, MYPN, CRYAB, CSRP3, NKX2-5, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, EMD, EYA4, FKTN, AKAP9, FXN, GATA4, GLA, ANK2, ABCC9, JAG1, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, BAG3, PTPN11, RAF1 Specificity 2 % Genes 100 %
CustomNext: Cardio. By Ambry Genetics (United States). RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SKI, SNTA1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3, TNNT2 , (...) View the complete list with 86 more genes Panel complete gene list RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SKI, SNTA1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3, TNNT2, MED12, TPM1, TRDN, TTN, TTR, VCL, ACTA2, MYOZ2, SLC2A10, CACNA1C, CACNA2D1, CACNB2, JPH2, ACTC1, CALM1, CASQ2, CAV3, CBS, LDB3, ANKRD1, ACTN2, HCN4, TRPM4, TXNRD2, SCN3B, COL3A1, COL5A1, COL5A2, MYPN, CRYAB, CSRP3, NKX2-5, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, EMD, EYA4, FBN1, FBN2, FKTN, FLNA, AKAP9, FXN, GATA4, GLA, ANK2, ABCC9, JAG1, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LMNA, SMAD3, SMAD4, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, NOTCH1, PKP2, PLN, PLOD1, PRKAG2, BAG3, PRKG1, PTPN11, RAF1 Specificity 1 % Genes 100 %

You can get up to 72 more panels with our dedicated tool

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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