MCID: EXC004
MIFTS: 22

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis

Categories: Genetic diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Fetal diseases, Blood diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

MalaCards integrated aliases for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis:

Name: Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 57 37 29 13 6 40
Exocrine Pancreatic Insufficiency Dyserythropoietic Anemia and Calvarial Hyperostosis 75
Pancreatic Insufficiency-Anemia-Hyperostosis Syndrome 59
Epidach 75

Characteristics:

Orphanet epidemiological data:

59
pancreatic insufficiency-anemia-hyperostosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
five patients reported (as of march 2009)


HPO:

32
exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

UniProtKB/Swiss-Prot : 75 Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis: Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth.

MalaCards based summary : Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis, is also known as exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis. An important gene associated with Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis is COX4I2 (Cytochrome C Oxidase Subunit 4I2), and among its related pathways/superpathways are Oxidative phosphorylation and Metabolic pathways. Affiliated tissues include bone, skin and pancreas, and related phenotypes are carious teeth and osteopenia

Description from OMIM: 612714

Related Diseases for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

Symptoms & Phenotypes for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
delayed bone age

AbdomenSpleen:
splenomegaly

Skin Nails Hair Skin:
jaundice
scaly skin rash over the perineum
hyperpigmented lesions, 0.2-0.5 cm

Skeletal Skull:
calvarial hyperostosis
large box-shaped skull
thickened parietal bones

Head And Neck Nose:
allergic rhinitis

Hematology:
dyserythropoietic anemia
impaired coagulation due to malnutrition

Neurologic Central Nervous System:
delayed psychomotor development, mild (in 3 of 5 patients)
difficulties in school

Growth Other:
failure to thrive
poor growth due to malnutrition

Abdomen Liver:
hepatomegaly

Respiratory Airways:
asthma

Abdomen Gastrointestinal:
steatorrhea

Head And Neck Teeth:
dental caries
maldentition

Abdomen Pancreas:
pancreatic exocrine deficiency
pancreatic atrophy
fatty infiltration of the pancreas


Clinical features from OMIM:

612714

Human phenotypes related to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 carious teeth 32 HP:0000670
2 osteopenia 32 HP:0000938
3 jaundice 32 HP:0000952
4 skin rash 32 HP:0000988
5 global developmental delay 32 HP:0001263
6 failure to thrive 32 HP:0001508
7 exocrine pancreatic insufficiency 32 HP:0001738
8 splenomegaly 32 HP:0001744
9 anemia 32 HP:0001903
10 asthma 32 HP:0002099
11 hepatomegaly 32 HP:0002240
12 steatorrhea 32 HP:0002570
13 delayed skeletal maturation 32 HP:0002750
14 allergic rhinitis 32 HP:0003193
15 malnutrition 32 HP:0004395
16 calvarial hyperostosis 32 HP:0004490
17 anemia of inadequate production 32 HP:0010972

Drugs & Therapeutics for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

Search Clinical Trials , NIH Clinical Center for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis

Genetic Tests for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

Genetic tests related to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis:

# Genetic test Affiliating Genes
1 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 29 COX4I2

Anatomical Context for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

MalaCards organs/tissues related to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis:

41
Bone, Skin, Pancreas

Publications for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

Variations for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

UniProtKB/Swiss-Prot genetic disease variations for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis:

75
# Symbol AA change Variation ID SNP ID
1 COX4I2 p.Glu138Lys VAR_058101 rs119455950

ClinVar genetic disease variations for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 COX4I2 NM_032609.2(COX4I2): c.-70C> T single nucleotide variant Uncertain significance rs577065484 GRCh38 Chromosome 20, 31637893: 31637893
2 COX4I2 NM_032609.2(COX4I2): c.-70C> T single nucleotide variant Uncertain significance rs577065484 GRCh37 Chromosome 20, 30225696: 30225696
3 COX4I2 NM_032609.2(COX4I2): c.167A> C (p.Glu56Ala) single nucleotide variant Uncertain significance rs751781798 GRCh38 Chromosome 20, 31640017: 31640017
4 COX4I2 NM_032609.2(COX4I2): c.167A> C (p.Glu56Ala) single nucleotide variant Uncertain significance rs751781798 GRCh37 Chromosome 20, 30227820: 30227820
5 COX4I2 NM_032609.2(COX4I2): c.345C> T (p.Phe115=) single nucleotide variant Uncertain significance rs765094514 GRCh37 Chromosome 20, 30231304: 30231304
6 COX4I2 NM_032609.2(COX4I2): c.345C> T (p.Phe115=) single nucleotide variant Uncertain significance rs765094514 GRCh38 Chromosome 20, 31643501: 31643501
7 COX4I2 NM_032609.2(COX4I2): c.396G> A (p.Pro132=) single nucleotide variant Uncertain significance rs150196183 GRCh37 Chromosome 20, 30232587: 30232587
8 COX4I2 NM_032609.2(COX4I2): c.396G> A (p.Pro132=) single nucleotide variant Uncertain significance rs150196183 GRCh38 Chromosome 20, 31644784: 31644784
9 COX4I2 NM_032609.2(COX4I2): c.463G> C (p.Val155Leu) single nucleotide variant Uncertain significance rs886056575 GRCh37 Chromosome 20, 30232654: 30232654
10 COX4I2 NM_032609.2(COX4I2): c.463G> C (p.Val155Leu) single nucleotide variant Uncertain significance rs886056575 GRCh38 Chromosome 20, 31644851: 31644851
11 COX4I2 NM_032609.2(COX4I2): c.430C> G (p.Leu144Val) single nucleotide variant Uncertain significance rs751561918 GRCh37 Chromosome 20, 30232621: 30232621
12 COX4I2 NM_032609.2(COX4I2): c.430C> G (p.Leu144Val) single nucleotide variant Uncertain significance rs751561918 GRCh38 Chromosome 20, 31644818: 31644818
13 COX4I2 NM_032609.2(COX4I2): c.1-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201853480 GRCh38 Chromosome 20, 31639012: 31639012
14 COX4I2 NM_032609.2(COX4I2): c.1-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201853480 GRCh37 Chromosome 20, 30226815: 30226815
15 COX4I2 NM_032609.2(COX4I2): c.83-8_83-7delGT deletion Uncertain significance rs886056574 GRCh38 Chromosome 20, 31639925: 31639926
16 COX4I2 NM_032609.2(COX4I2): c.83-8_83-7delGT deletion Uncertain significance rs886056574 GRCh37 Chromosome 20, 30227728: 30227729
17 COX4I2 NM_032609.2(COX4I2): c.231C> T (p.His77=) single nucleotide variant Uncertain significance rs201106165 GRCh37 Chromosome 20, 30227884: 30227884
18 COX4I2 NM_032609.2(COX4I2): c.231C> T (p.His77=) single nucleotide variant Uncertain significance rs201106165 GRCh38 Chromosome 20, 31640081: 31640081
19 COX4I2 NM_032609.2(COX4I2): c.482G> A (p.Arg161His) single nucleotide variant Benign/Likely benign rs11907253 GRCh37 Chromosome 20, 30232673: 30232673
20 COX4I2 NM_032609.2(COX4I2): c.482G> A (p.Arg161His) single nucleotide variant Benign/Likely benign rs11907253 GRCh38 Chromosome 20, 31644870: 31644870

Expression for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

Search GEO for disease gene expression data for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis.

Pathways for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

Pathways related to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis according to KEGG:

37
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190
2 Metabolic pathways hsa01100

GO Terms for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

Sources for Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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