Chorea, Benign Hereditary; Bhc

Table of contents:

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

Genes related to Chorea, Benign Hereditary; Bhc

NKX2-1
MBIP

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Chorea, Benign Hereditary; Bhc

Ataxia
Cognitive impairment
Motor delay
Dysarthria
Gait disturbance
Behavioral abnormality
Dystonia
Myoclonus
Anxiety
Mental deterioration

And another 5 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

Chorea, Benign Hereditary; Bhc Is also known as hereditary progressive chorea without dementia, bch.

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.

Chorea, Benign Hereditary; Bhc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...) View the complete list with 73 more genes Panel complete gene list RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, RSPH1, CFAP298, CAV1, HPS3, HPS4, RTEL1, NME8, LRRC6, HPS5, DTNBP1, ACVRL1, INVS, CENPF, CCNO, DNAI2, HPS6, CFTR, DOCK8, ZMYND10, DNAAF2, BLOC1S3, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CSF2RA, CSF2RB, CCDC39, TTC25, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, FLCN, ELMOD2, CCDC151, DKC1, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, DNAJB13, EDN3, EFEMP2, CCDC103, ABCA3, ELN, ENG, FBLN5, FOXF1, MCIDAS, GAS8, GDF2, ALMS1, HPS1, AP3B1, KCNA5, KCNK3, LTBP4, SMAD4, SMAD9, MUC5B, BLOC1S6, PARN, SERPINA1, PHOX2B Specificity 2 % Genes 50 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2, NKX2-1, HPS3, HPS4, RTEL1, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, DKC1, ABCA3 , (...) View the complete list with 5 more genes Panel complete gene list SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2, NKX2-1, HPS3, HPS4, RTEL1, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, DKC1, ABCA3, HPS1, AP3B1, MUC5B, BLOC1S6, PARN Specificity 4 % Genes 50 %
Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SFTPB, SFTPC, SLC7A7, NKX2-1, CSF2RA, CSF2RB, ABCA3, FOXF1 Specificity 13 % Genes 50 %
Diffuse Lung Disease NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States). SFTPA2, SFTPB, SFTPC, SLC7A7, TERC, TERT, TINF2, NKX2-1, HPS4, CSF2RA, CSF2RB, DKC1, ABCA3, FOXF1, HPS1, AP3B1 Specificity 7 % Genes 50 %
Pulmonary Alveolar Proteinosis NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States). SFTPB, SFTPC, SLC7A7, NKX2-1, CSF2RA, CSF2RB, ABCA3, FOXF1 Specificity 13 % Genes 50 %
Idiopathic Pulmonary Fibrosis NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States). SFTPA2, SFTPC, TERC, TERT, TINF2, NKX2-1, HPS4, DKC1, ABCA3, HPS1, AP3B1 Specificity 10 % Genes 50 %
Neonatal Respiratory Distress NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States). SFTPB, SFTPC, NKX2-1, ABCA3, FOXF1 Specificity 20 % Genes 50 %
Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States). NKX2-1 Specificity 100 % Genes 50 %

You can get up to 61 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MICROCEPHALY, AMISH TYPE; MCPHA FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11 DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD PRIMROSE SYNDROME; PRIMS AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS