HAL gene related symptoms and diseases
All the information presented here about the HAL gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HAL gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Sensorineural hearing impairment | Very Common - Between 80% and 100% cases |
| Wide nasal bridge | Very Common - Between 80% and 100% cases |
| Long philtrum | Very Common - Between 80% and 100% cases |
| Macrotia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with HAL gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Thin upper lip vermilion
- Smooth philtrum
- Generalized myoclonic seizures
- Hypoplastic toenails
- Short middle phalanx of finger
- Histidinuria
- Rounded middle phalanx of finger
- Impaired histidine renal tubular absorption
Rare diseases associated to HAL gene
Here you will find a list of rare diseases related to the HAL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HISTIDINEMIA
Alternate names
HISTIDINEMIA Is also known as his deficiency, histidinuria, histidase deficiency, hyperhistidinemia, hal deficiency, histidine ammonia-lyase deficiency
Description
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
Most common symptoms of HISTIDINEMIA
- Intellectual disability
- Sensorineural hearing impairment
- Wide nasal bridge
- Long philtrum
- Macrotia
More info about HISTIDINEMIA
Search interest in HAL
Potential gene panels for HAL gene
Histidinemia (sequence analysis of HAL gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HAL gene.
More info about this panel Portugal.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
HAL Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HAL gene.
More info about this panel United States.
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
United States.
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel United States.
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