HOXA1 gene related symptoms and diseases
All the information presented here about the HOXA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HOXA1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Abnormality of movement | Uncommon - Between 30% and 50% cases |
| Cochlear aplasia | Uncommon - Between 30% and 50% cases |
| Abnormal cerebral artery morphology | Uncommon - Between 30% and 50% cases |
| Conotruncal defect | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HOXA1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abducens palsy
- Abnormality of brainstem morphology
- Central hypoventilation
- Facial paralysis
- Vocal cord paralysis
- Hypoventilation
- Delayed gross motor development
- Abnormality of the outer ear
And 14 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HOXA1 gene
Here you will find a list of rare diseases related to the HOXA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
Alternate names
ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME Is also known as navajo brainstem syndrome, absd, athabascan brainstem dysgenesis syndrome
Description
Ahabaskan brainstem dysgenesis is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.
More info about ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
SOURCES: ORPHANET
BOSLEY-SALIH-ALORAINY SYNDROME
Alternate names
BOSLEY-SALIH-ALORAINY SYNDROME Is also known as navajo brainstem syndrome
Description
Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.
Most common symptoms of BOSLEY-SALIH-ALORAINY SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Sensorineural hearing impairment
More info about BOSLEY-SALIH-ALORAINY SYNDROME
Search interest in HOXA1
Potential gene panels for HOXA1 gene
Syndromic Autism Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1
More info about this panel United States.
Autism/Intellectual Disability/Multiple Anomalies Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1
More info about this panel United States.
CustomNext: Neuro Panel
United States.
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
Neurodevelopment-Expanded Panel
United States.
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
IDNext Panel
United States.
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panel United States.
Athabaskan brainstem dysgenesis syndrome (sequence analysis of HOXA1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HOXA1 gene.
More info about this panel Portugal.
HOXA1-Related Disorders Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the HOXA1 gene.
More info about this panel United Kingdom.
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection that also includes the following genes: ROBO3 SALL4 KIF21A CHN1 TUBB3 TUBB2B ECEL1 HOXA1 HOXB1 PHOX2A
More info about this panel United States.
Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2
More info about this panel United States.
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 Germany.
Athabaskan brainstem dysgenesis syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HOXA1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Autism Spectrum Disorders Panel
Estonia.
By Asper Biogene Asper Biogene LLC Autism Spectrum Disorders that also includes the following genes: RPL10 SCN1A SCN2A BRAF SLC6A4 SLC6A8 CDKL5 MED12 TSC1 TSC2
More info about this panel Estonia.
Autism Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Autism that also includes the following genes: RPL10 SLC25A12 SLC6A4 UBE3A CNTNAP2 FOXP2 CACNA1C CACNA1F CACNA1H PCDH19
More info about this panel Spain.
Congenital Central Hypoventilation Syndrome: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Central Hypoventilation Syndrome: Sequencing Panel that also includes the following genes: BDNF EDN3 GDNF HOXA1 ASCL1 PHOX2B RET
More info about this panel United States.
Congenital Central Hypoventilation Syndrome: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Central Hypoventilation Syndrome: Deletion/Duplication Panel that also includes the following genes: BDNF EDN3 GDNF HOXA1 ASCL1 PHOX2B RET
More info about this panel United States.
Autism NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panel United States.
HOXA1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HOXA1 gene.
More info about this panel United States.
Congenital Structural Heart Disease Panel Panel
Finland.
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panel Finland.
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel
Spain.
By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panel Spain.
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