EPIDACH
MCID: EXC004
MIFTS: 23

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis (EPIDACH)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare 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 36 29 13 6 39
Exocrine Pancreatic Insufficiency Dyserythropoietic Anemia and Calvarial Hyperostosis 72
Pancreatic Insufficiency-Anemia-Hyperostosis Syndrome 58
Epidach 72

Characteristics:

Orphanet epidemiological data:

58
pancreatic insufficiency-anemia-hyperostosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Rare haematological diseases


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

KEGG : 36 Patients with this disease suffer from exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Mutatioins in COX4I2, an essential component of cytochrome c oxidase complex expressed in acinar cells, leads to failure to absorb fat and deficiency of fat-soluble vitamins.

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 and pancreas, and related phenotypes are failure to thrive and osteopenia

UniProtKB/Swiss-Prot : 72 Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis: Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth.

More information from OMIM: 612714

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

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

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

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 osteopenia 31 HP:0000938
3 global developmental delay 31 HP:0001263
4 splenomegaly 31 HP:0001744
5 hepatomegaly 31 HP:0002240
6 delayed skeletal maturation 31 HP:0002750
7 carious teeth 31 HP:0000670
8 anemia 31 HP:0001903
9 exocrine pancreatic insufficiency 31 HP:0001738
10 jaundice 31 HP:0000952
11 asthma 31 HP:0002099
12 skin rash 31 HP:0000988
13 steatorrhea 31 HP:0002570
14 calvarial hyperostosis 31 HP:0004490
15 malnutrition 31 HP:0004395
16 anemia of inadequate production 31 HP:0010972
17 allergic rhinitis 31 HP:0003193

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
poor growth due to malnutrition

Abdomen Spleen:
splenomegaly

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

Abdomen Gastrointestinal:
steatorrhea

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

Skeletal:
osteopenia
delayed bone age

Abdomen Liver:
hepatomegaly

Respiratory Airways:
asthma

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

Head And Neck Teeth:
dental caries
maldentition

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

Clinical features from OMIM®:

612714 (Updated 05-Apr-2021)

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:

40
Bone, Pancreas

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

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

# Title Authors PMID Year
1
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. 57 6
19268275 2009

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COX4I2 NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) SNV Pathogenic 2655 rs119455950 GRCh37: 20:30232603-30232603
GRCh38: 20:31644800-31644800
2 COX4I2 NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro) SNV Uncertain significance 1032977 GRCh37: 20:30227828-30227828
GRCh38: 20:31640025-31640025
3 COX4I2 NM_032609.3(COX4I2):c.83-8_83-7del Microsatellite Uncertain significance 338032 rs528430338 GRCh37: 20:30227725-30227726
GRCh38: 20:31639922-31639923
4 COX4I2 NM_032609.3(COX4I2):c.408G>A (p.Thr136=) SNV Likely benign 811601 rs375116097 GRCh37: 20:30232599-30232599
GRCh38: 20:31644796-31644796

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

72
# Symbol AA change Variation ID SNP ID
1 COX4I2 p.Glu138Lys VAR_058101 rs119455950

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:

36
# 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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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