MCID: CYS040
MIFTS: 18

Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation

Categories: Gastrointestinal diseases, Mental diseases, Neuronal diseases
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Aliases & Classifications for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

MalaCards integrated aliases for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation:

Name: Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 57 5
Lubani Al Saleh Teebi Syndrome 71

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
reported in 2 sibs (february 1991)


Classifications:



Summaries for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

MalaCards based summary: Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation, also known as lubani al saleh teebi syndrome, is related to lubani-al saleh-teebi syndrome. An important gene associated with Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation is POLE (DNA Polymerase Epsilon, Catalytic Subunit). Related phenotypes are intellectual disability and frontal bossing

More information from OMIM: 219721

Related Diseases for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

Diseases related to Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lubani-al saleh-teebi syndrome 11.8

Symptoms & Phenotypes for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

Human phenotypes related to Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation:

30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 HP:0001249
2 frontal bossing 30 HP:0002007
3 wide nasal bridge 30 HP:0000431
4 micrognathia 30 HP:0000347
5 biliary cirrhosis 30 HP:0002613
6 exocrine pancreatic insufficiency 30 HP:0001738
7 emphysema 30 HP:0002097
8 long face 30 HP:0000276
9 hypercalciuria 30 HP:0002150
10 hypospadias 30 HP:0000047
11 telecanthus 30 HP:0000506
12 recurrent pneumonia 30 HP:0006532
13 large earlobe 30 HP:0009748
14 infertility 30 HP:0000789
15 shawl scrotum 30 HP:0000049
16 cor pulmonale 30 HP:0001648
17 diarrhea 30 HP:0002014
18 megaloblastic anemia 30 HP:0001889
19 gastritis 30 HP:0005263
20 recurrent bronchopulmonary infections 30 HP:0006538
21 biliary tract obstruction 30 HP:0005230
22 reduced blood folate concentration 30 HP:0100507
23 meconium ileus 30 HP:0004401
24 microscopic nephrocalcinosis 30 HP:0008327

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Face:
frontal bossing
long face

Genitourinary External Genitalia Male:
shawl scrotum
glanular hypospadias

Hematology:
megaloblastic anemia

Laboratory Abnormalities:
folate deficiency
high sweat electrolyte

Head And Neck Ears:
prominent ear lobule

Neurologic Central Nervous System:
mental retardation (iq 50-60 combined griffiths and stanford-binet scale)

Head And Neck Eyes:
telecanthus
small, deep-set eyes

Abdomen Gastrointestinal:
diarrhea
helicobacter pylori gastritis

Respiratory:
recurrent bronchopulmonary infections

Head And Neck Mouth:
micrognathia, mild

Skin Nails Hair Skin:
high sweat electrolyte

Clinical features from OMIM®:

219721 (Updated 24-Oct-2022)

Drugs & Therapeutics for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

Search Clinical Trials, NIH Clinical Center for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation

Genetic Tests for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

Anatomical Context for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

Publications for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

Articles related to Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation:

# Title Authors PMID Year
1
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction. 5
32424176 2020
2
Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps. 5
30827058 2019
3
Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures. 5
30362666 2019
4
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 5
25559809 2015
5
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 5
24501277 2014
6
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 5
23263490 2013
7
Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome? 57
2029916 1991
8
Unidentified curved bacilli on gastric epithelium in active chronic gastritis. 57
6134060 1983

Variations for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

ClinVar genetic disease variations for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLE NM_006231.4(POLE):c.1270C>G (p.Leu424Val) SNV Pathogenic
40046 rs483352909 GRCh37: 12:133250250-133250250
GRCh38: 12:132673664-132673664

Expression for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

Search GEO for disease gene expression data for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation.

Pathways for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

GO Terms for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

Sources for Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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