ALAD gene related symptoms and diseases
All the information presented here about the ALAD 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 ALAD gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Paresthesia | Very Common - Between 80% and 100% cases |
| Abdominal colic | Very Common - Between 80% and 100% cases |
| Wrist drop | Very Common - Between 80% and 100% cases |
| Respiratory paralysis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALAD gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Motor axonal neuropathy
- Hyponatremia
- Hemiparesis
- Psychosis
- Polyneuropathy
- Sensory neuropathy
- Hemolytic anemia
- Tachycardia
And 14 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALAD gene
Here you will find a list of rare diseases related to the ALAD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY
Alternate names
PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency, doss porphyria, delta-aminolevulinate dehydratase deficiency, alad porphyria, porphyria, alad, porphyria of doss, alad deficiency, porphyria due to delta-aminolevulinate dehydratase deficiency, porphobilinogen synthase deficiency
Description
Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.
Most common symptoms of PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY
- Seizures
- Generalized hypotonia
- Failure to thrive
- Muscular hypotonia
- Pain
More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY
Search interest in ALAD
Potential gene panels for ALAD gene
Porphyria of Doss (sequence analysis of ALAD gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALAD gene.
More info about this panel Portugal.
Porphyria of Doss (sequence analysis of ALAD gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALAD gene.
More info about this panel Portugal.
Porphyria Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Porphyria Sequencing Panel with CNV Detection that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HMBS PPOX
More info about this panel United States.
Acute/Neurovisceral Porphyria Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Acute/Neurovisceral Porphyria Sequencing Panel with CNV Detection that also includes the following genes: CPOX ALAD HMBS PPOX
More info about this panel United States.
Acute hepatic porphyria Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the ALAD gene.
More info about this panel Germany.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Hepatic and pancreatic diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B
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.
Porphyria Panel
Estonia.
By Asper Biogene Asper Biogene LLC Porphyria that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX
More info about this panel Estonia.
Invitae Acute Hepatic Porphyrias Panel Panel
United States.
By Invitae Invitae Acute Hepatic Porphyrias Panel that also includes the following genes: CPOX ALAD HMBS PPOX
More info about this panel United States.
Acute hepatic porphyria: ALAD gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ALAD gene.
More info about this panel Spain.
ALAD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALAD gene.
More info about this panel United States.
Porphyria Panel Panel
Finland.
By Blueprint Genetics Porphyria Panel that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ALAD gene.
More info about this panel Spain.
Acute Hepatic Porphyria , Sequencing ALAD Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ALAD gene.
More info about this panel Spain.
Hepatic Porphyria , Panel Deletions-Duplications (MLPA) ALAD, HMBS, PPOX Panel
Spain.
By Reference Laboratory Genetics Hepatic Porphyria , Panel Deletions-Duplications (MLPA) ALAD, HMBS, PPOX that also includes the following genes: ALAD HMBS PPOX
More info about this panel Spain.
Porphyria Related Diseases , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Porphyria Related Diseases , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: UROD UROS CPOX FECH ALAD HMBS PPOX
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GRM3 PRDM5 COASY KCNN4