Hyperprolinemia, Type Ii; Hyrpro2

Description

Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.

Clinical Features

Phenotypes and symptoms related to Hyperprolinemia, Type Ii; Hyrpro2

  • Intellectual disability
  • Seizures
  • Intellectual disability, mild
  • Hyperglycinemia
  • Hyperglycinuria
  • Prolinuria
  • Hydroxyprolinuria
  • Hyperprolinemia

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Hyperprolinemia, Type Ii; Hyrpro2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
ALDH4A1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ALDH4A1
Specificity
100 %
Genes
100 %
ALDH4A1 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ALDH4A1
Specificity
100 %
Genes
100 %
ALDH4A1 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ALDH4A1
Specificity
100 %
Genes
100 %
ALDH4A1 Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ALDH4A1
Specificity
100 %
Genes
100 %
ALDH4A1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ALDH4A1
Specificity
100 %
Genes
100 %
ALDH4A1. Complete sequencing.

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

ALDH4A1
Specificity
100 %
Genes
100 %
Hyperprolinemia type II (sequence analysis of ALDH4A1 gene).

By CGC Genetics in Portugal.

ALDH4A1
Specificity
100 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
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 %
Metabolic Epilepsy Panel.

By CeGaT GmbH in Germany.

MTHFR, ARG1, BTD, ADSL, PRODH, GNE, FH, GAMT, ATIC, GCSH, GLDC, AMT, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR, MOCS2, MOCS1, ALDH4A1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Single gene testing ALDH4A1.

By CeGaT GmbH in Germany.

ALDH4A1
Specificity
100 %
Genes
100 %
ALDH4A1.

By Division Human Genetics Medical University Innsbruck in Austria.

ALDH4A1
Specificity
100 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Invitae Elevated Proline Panel.

By Invitae in United States.

PRODH, ALDH4A1
Specificity
50 %
Genes
100 %
Invitae Hyperprolinemia Panel.

By Invitae in United States.

PRODH, ALDH4A1
Specificity
50 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
ALDH4A1.

By Fulgent Genetics Fulgent Genetics in United States.

ALDH4A1
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Hyperprolinemia type II.

By Bioarray in Spain.

ALDH4A1
Specificity
100 %
Genes
100 %
HYPERPROLINEMIA TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

ALDH4A1
Specificity
100 %
Genes
100 %
Hyperprolinemia Type II, Sequencing ALDH4A1 gene.

By Reference Laboratory Genetics in Spain.

ALDH4A1
Specificity
100 %
Genes
100 %

Alternate names

Hyperprolinemia, Type Ii; Hyrpro2 Is also known as hpii, 1-pyrroline-5-carboxylate dehydrogenase deficiency;delta1-pyrroline-5-carboxylate dehydrogenase deficiency.



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