Encephalopathy, Acute, Infection-induced, Susceptibility To, 3; Iiae3

Description

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

Clinical Features

Top most frequent phenotypes and symptoms related to Encephalopathy, Acute, Infection-induced, Susceptibility To, 3; Iiae3

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Spasticity
  • Visual impairment
  • Gait disturbance
  • Fever
  • Hypertonia
  • Coma
  • Vomiting
And another 19 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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Encephalopathy, Acute, Infection-induced, Susceptibility To, 3; Iiae3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RANBP2 Common Mutations Analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

RANBP2
Specificity
100 %
Genes
100 %
RANBP2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RANBP2
Specificity
100 %
Genes
100 %
Encephalopathy, acute necrotizing (sequence analysis of RANBP2 gene).

By CGC Genetics in Portugal.

RANBP2
Specificity
100 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
RANBP2.

By MGZ Medical Genetics Center in Germany.

RANBP2
Specificity
100 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Inflammatory epilepsy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

SCN1A, RANBP2
Specificity
50 %
Genes
100 %
Encephalopathy acute necrotizing 1.

By Centogene AG - the Rare Disease Company in Germany.

RANBP2
Specificity
100 %
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 %
RANBP2.

By Fulgent Genetics Fulgent Genetics in United States.

RANBP2
Specificity
100 %
Genes
100 %
Familial acute necrotizing encephalopathy.

By Bioarray in Spain.

RANBP2
Specificity
100 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
Familial Acute Necrotizing Encephalopathy , Sequencing RANBP2 Gene.

By Reference Laboratory Genetics in Spain.

RANBP2
Specificity
100 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Susceptibility to Infection-Induced Acute Encephalopathy 3: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RANBP2
Specificity
100 %
Genes
100 %

Alternate names

Encephalopathy, Acute, Infection-induced, Susceptibility To, 3; Iiae3 Is also known as encephalopathy, acute necrotizing, susceptibility to;ane;adane; recurrent acute necrotizing encephalopathy.



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