KCNH1 gene related symptoms and diseases

All the information presented here about the KCNH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KCNH1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Wide nasal bridge Very Common - Between 80% and 100% cases
Intellectual disability, progressive Very Common - Between 80% and 100% cases
Small nail Very Common - Between 80% and 100% cases
Thick vermilion border Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KCNH1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Short distal phalanx of finger
  • Wide mouth
  • Seizures
  • Intellectual disability, severe
  • Downslanted palpebral fissures
  • Anonychia
  • Hearing impairment
  • High palate

And 112 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KCNH1 gene

Here you will find a list of rare diseases related to the KCNH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TEMPLE-BARAITSER SYNDROME


Alternate names

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome, mental retardation, severe, and absent nails of hallux and pollex, tmbts

Description

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

Most common symptoms of TEMPLE-BARAITSER SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about TEMPLE-BARAITSER SYNDROME

SOURCES: MESH OMIM ORPHANET

ZIMMERMANN-LABAND SYNDROME


Alternate names

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome, gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome, fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Description

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

Most common symptoms of ZIMMERMANN-LABAND SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about ZIMMERMANN-LABAND SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for KCNH1 gene

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome via KCNH1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KCNH1 gene.

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Zimmermann-Laband syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Zimmermann-Laband syndrome NGS panel that also includes the following genes: KCNH1 ATP6V1B2

More info about this panel

Zimmermann-Laband syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Zimmermann-Laband syndrome Deletion / Duplication panel that also includes the following genes: KCNH1 ATP6V1B2

More info about this panel

Zimmermann-Laband syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Zimmermann-Laband syndrome Comprehensive panel that also includes the following genes: KCNH1 ATP6V1B2

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Temple-Baraitser syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KCNH1 gene.

More info about this panel

KCNH1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KCNH1 gene.

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel


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