Cystic fibrosis-gastritis-megaloblastic anemia syndrome

Cystic fibrosis-gastritis-megaloblastic anemia, or Lubani-Al Saleh-Teebi syndrome, is a rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with <i>Helicobacter pylori</i>, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001877 Abnormal erythrocyte morphology Very frequent (99-80%)
HP:0001889 Megaloblastic anemia Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002014 Diarrhea Very frequent (99-80%)
HP:0002205 Recurrent respiratory infections Very frequent (99-80%)
HP:0004826 Folate-unresponsive megaloblastic anemia Very frequent (99-80%)
HP:0005263 Gastritis Very frequent (99-80%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000049 Shawl scrotum Frequent (79-30%)
HP:0000100 Nephrotic syndrome Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000807 Glandular hypospadias Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID