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.

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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

SOURCES: OMIM ORPHANET MESH


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

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

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

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

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

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

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

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

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

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

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

ALAD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALAD gene.

More info about this panel

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

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

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

Acute Hepatic Porphyria , Sequencing ALAD Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ALAD gene.

More info about this panel

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

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


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