Holt-oram Syndrome; Hos

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 is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

Genes related to Holt-oram Syndrome; Hos

TBX5

View recommended genes panels

Clinical Features

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

Intellectual disability
Short stature
Failure to thrive
Micrognathia
Cleft palate
Anemia
Depressed nasal bridge
Hypertension
Fatigue
Frontal bossing

And another 73 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

Holt-oram Syndrome; Hos Is also known as atriodigital dysplasia, heart-hand syndrome, hos1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Holt-oram Syndrome; Hos 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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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