Porphyria, Acute Hepatic

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Porphyria, Acute Hepatic

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia
  • Peripheral neuropathy
  • Pain
  • Respiratory insufficiency
  • Diarrhea
  • Behavioral abnormality
And another 15 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Porphyria, Acute Hepatic Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Porphyria of Doss (sequence analysis of ALAD gene).

By CGC Genetics in Portugal.

ALAD
Specificity
100 %
Genes
100 %
Porphyria of Doss (sequence analysis of ALAD gene).

By CGC Genetics in Portugal.

ALAD
Specificity
100 %
Genes
100 %
Porphyria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALAS2, FECH, PPOX, CPOX, UROS, UROD, HMBS, ALAD
Specificity
13 %
Genes
100 %
Acute/Neurovisceral Porphyria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PPOX, CPOX, HMBS, ALAD
Specificity
25 %
Genes
100 %
Acute hepatic porphyria.

By Institute of Human Genetics Cologne University in Germany.

ALAD
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Porphyria.

By Asper Biogene Asper Biogene LLC in Estonia.

HFE, ALAS2, FECH, PPOX, CPOX, UROS, UROD, HMBS, ALAD
Specificity
12 %
Genes
100 %
Invitae Acute Hepatic Porphyrias Panel.

By Invitae in United States.

PPOX, CPOX, HMBS, ALAD
Specificity
25 %
Genes
100 %
Acute hepatic porphyria: ALAD gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ALAD
Specificity
100 %
Genes
100 %
ALAD.

By Fulgent Genetics Fulgent Genetics in United States.

ALAD
Specificity
100 %
Genes
100 %
Porphyria Panel.

By Blueprint Genetics in Finland.

HFE, ALAS2, FECH, PPOX, CPOX, UROS, UROD, HMBS, ALAD
Specificity
12 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

ALAD
Specificity
100 %
Genes
100 %
Acute Hepatic Porphyria , Sequencing ALAD Gene.

By Reference Laboratory Genetics in Spain.

ALAD
Specificity
100 %
Genes
100 %
Hepatic Porphyria , Panel Deletions-Duplications (MLPA) ALAD, HMBS, PPOX.

By Reference Laboratory Genetics in Spain.

PPOX, HMBS, ALAD
Specificity
34 %
Genes
100 %
Porphyria Related Diseases , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

FECH, PPOX, CPOX, UROS, UROD, HMBS, ALAD
Specificity
15 %
Genes
100 %

Alternate names

Porphyria, Acute Hepatic Is also known as delta-aminolevulinate dehydratase deficiency, alad deficiency, porphyria, alad, porphobilinogen synthase deficiency, doss porphyria;alad porphyria; porphyria due to alad deficiency; porphyria due to delta-aminolevulinate dehydratase deficiency; porphyria of doss.



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