Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis

Description

This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis

  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Fatigue
  • Delayed skeletal maturation
  • Osteopenia
  • Jaundice
  • Hepatosplenomegaly
And another 16 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis 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 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Respiratory Chain Deficiency.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, SDHAF2, NDUFS4, FOXRED1, NDUFAF2, SDHC, PDHB, TMEM70, NDUFAF1, TTC19, NDUFA10, NUBPL, COX4I2, SDHB, PDP1, NDUFA13 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
COX4I2. Complete sequencing.

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

COX4I2
Specificity
100 %
Genes
100 %
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (sequence analysis of COX4I2 gene).

By CGC Genetics in Portugal.

COX4I2
Specificity
100 %
Genes
100 %
Complex IV Defect.

By MGZ Medical Genetics Center in Germany.

C12orf65, COX14, COX4I2, ETHE1, SURF1, LRPPRC, FASTKD2, COX6B1, TACO1, COX10
Specificity
10 %
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 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, SDHAF2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, SLC25A19, SLC25A4 , (...)

View the complete list with 111 more genes
Specificity
1 %
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 %
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

By Centogene AG - the Rare Disease Company in Germany.

COX4I2
Specificity
100 %
Genes
100 %
Dyserythropoietic anemia.

By Centogene AG - the Rare Disease Company in Germany.

COX4I2
Specificity
100 %
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 %
Erythrocytes, Anemia Panel.

By CeGaT GmbH in Germany.

HFE, HBB, AMN, COX4I2, RPL35A, CUBN, GIF, RPS19, HBA1, G6PD, HBA2, KIF23, KLF1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, CDAN1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Mitochondrial respiratory chain complex II, III, and IV deficiency.

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

UQCRQ, UQCRB, BCS1L, SDHAF2, SDHC, TTC19, COX4I2, SDHB, CYCS, SCO2, COX15, SURF1, SDHAF1, FASTKD2, COX6B1, TACO1, SDHA, SDHD, COX4I1, COX10 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Mitochondrial Diseases: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UQCRQ, UQCRB, ATPAF2, BCS1L, SDHAF2, NDUFS4, FOXRED1, SDHC, TMEM70, NDUFAF1, TTC19, NDUFA10, NUBPL, COX4I2, SDHB, SCO2, NDUFA2, COX15, SURF1, NDUFS8 , (...)

View the complete list with 23 more genes
Specificity
3 %
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 %
COX4I2.

By Fulgent Genetics Fulgent Genetics in United States.

COX4I2
Specificity
100 %
Genes
100 %
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

By Bioarray in Spain.

COX4I2
Specificity
100 %
Genes
100 %
Pancreatic Insufficiency-Anemia-Hyperostosis, Sequencing COX4I2 Gene.

By Reference Laboratory Genetics in Spain.

COX4I2
Specificity
100 %
Genes
100 %

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PORTAL HYPERTENSION, NONCIRRHOTIC; NCPH MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 PACHYONYCHIA CONGENITA 2; PC2 HYALINE FIBROMATOSIS SYNDROME; HFS STURGE-WEBER SYNDROME; SWS SPASTIC PARAPLEGIA 16, X-LINKED; SPG16