Cystic fibrosis - gastritis - megaloblastic anemia

General Information (adopted from Orphanet):

Synonyms, Signs: Lubani-Al Saleh-Teebi syndrome
Number of Symptoms 41
OrphanetNr: 2575
OMIM Id: 219721
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic gastro-esophageal disease
 -Rare genetic disease
Rare gastro-esophageal disease
 -Rare gastroenterologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000789) Infertility 74 / 7739
2
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
3
 (HPO:0000100) Nephrotic syndrome Frequent [Orphanet] 83 / 7739
4
 (HPO:0008327) Microscopic nephrocalcinosis 1 / 7739
5
 (HPO:0000049) Shawl scrotum Frequent [Orphanet] 31 / 7739
6
 (HPO:0002150) Hypercalciuria 45 / 7739
7
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
8
 (HPO:0000276) Long face 109 / 7739
9
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
10
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
11
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
12
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
13
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
14
 (HPO:0000347) Micrognathia 426 / 7739
15
 (HPO:0009748) Large earlobe 27 / 7739
16
 (HPO:0001249) Intellectual disability 1089 / 7739
17
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
18
 (HPO:0004401) Meconium ileus 4 / 7739
19
 (HPO:0005263) Gastritis 9 / 7739
20
 (HPO:0002014) Diarrhea 225 / 7739
21
 (HPO:0002592) Gastric ulcer Very frequent [Orphanet] 39 / 7739
22
 (HPO:0001738) Exocrine pancreatic insufficiency 23 / 7739
23
 (HPO:0005230) Biliary tract obstruction 1 / 7739
24
 (HPO:0002613) Biliary cirrhosis 11 / 7739
25
 (HPO:0001648) Cor pulmonale 16 / 7739
26
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
27
 (HPO:0004447) Poikilocytosis Very frequent [Orphanet] 16 / 7739
28
 (HPO:0001889) Megaloblastic anemia 28 / 7739
29
 (HPO:0100507) Folate deficiency 2 / 7739
30
 (HPO:0006532) Recurrent pneumonia 48 / 7739
31
 (HPO:0006538) Recurrent bronchopulmonary infections 6 / 7739
32
 (HPO:0002097) Emphysema 40 / 7739
33
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
34
 (OMIM) Helicobacter pylori gastritis 1 / 7739
35
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
36
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
 (OMIM) High sweat electrolyte 1 / 7739
38
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
39
 (OMIM) Micrognathia, mild 8 / 7739
40
 (OMIM) Small, deep-set eyes 2 / 7739
41
 (OMIM) Glanular hypospadias 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In the son and daughter of consanguineous Arab parents, Lubani et al. (1991) observed cystic fibrosis and gastritis associated with Helicobacter pylori, folate deficiency, megaloblastic anemia, and subnormal mentality. Warren and Marshall (1983) first identified Helicobacter pylori (previously ...