Pancreatic insufficiency - anemia - hyperostosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 30
OrphanetNr: 199337
OMIM Id: 612714
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cleidocranial dysplasia and isolated cranial ossification defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Constitutional dyserythropoietic anemia
 -Rare genetic disease
 -Rare hematologic disease
Genetic pancreatic disease
 -Rare genetic disease
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Rare pancreatic disease
 -Rare gastroenterologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004490) Calvarial hyperostosis 11 / 7739
2
 (HPO:0003193) Allergic rhinitis 6 / 7739
3
 (HPO:0000670) Carious teeth 145 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
6
 (HPO:0000938) Osteopenia 138 / 7739
7
 (HPO:0001738) Exocrine pancreatic insufficiency 23 / 7739
8
 (HPO:0004395) Malnutrition 12 / 7739
9
 (HPO:0002240) Hepatomegaly 467 / 7739
10
 (HPO:0001744) Splenomegaly 337 / 7739
11
 (HPO:0002570) Steatorrhea 31 / 7739
12
 (HPO:0000952) Jaundice 105 / 7739
13
 (HPO:0001508) Failure to thrive 454 / 7739
14
 (HPO:0000988) Skin rash 98 / 7739
15
 (HPO:0010972) Anemia of inadequate production 10 / 7739
16
 (HPO:0002099) Asthma 62 / 7739
17
 (OMIM) Maldentition 1 / 7739
18
 (MedDRA:10033603) Pancreatic atrophy 3 / 7739
19
 (OMIM) Fatty infiltration of the pancreas 1 / 7739
20
 (OMIM) Exocrine pancreatic deficiency 6 / 7739
21
 (OMIM) Impaired coagulation due to malnutrition 1 / 7739
22
 (OMIM) Hyperpigmented lesions, 0.2-0.5 cm 1 / 7739
23
 (OMIM) Thickened parietal bones 1 / 7739
24
 (OMIM) Difficulties in school 2 / 7739
25
 (OMIM) Scaly skin rash over the perineum 1 / 7739
26
 (OMIM) Poor growth due to malnutrition 1 / 7739
27
 (OMIM) Large box-shaped skull 1 / 7739
28
 (HPO:0003593) Infantile onset 249 / 7739
29
 (OMIM) Delayed psychomotor development, mild 2 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shteyer et al. (2009) reported 3 brothers from a consanguineous Arab Muslim family with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. They presented with steatorrhea, failure to thrive, and anemia soon after birth. Supplementation with pancreatic enzymes ...
Molecular genetics OMIM In 5 affected individuals from 2 Arab Muslim families with pancreatic exocrine insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, Shteyer et al. (2009) identified a homozygous mutation in the COX4I2 gene (607976.0001).