MCID: LBN005
MIFTS: 22

Lubani-Al Saleh-Teebi Syndrome

Categories: Gastrointestinal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lubani-Al Saleh-Teebi Syndrome

MalaCards integrated aliases for Lubani-Al Saleh-Teebi Syndrome:

Name: Lubani-Al Saleh-Teebi Syndrome 39 58
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome 58 28 5
Lubani Al Saleh Teebi Syndrome 19 75 71
Cystic Fibrosis, Helicobacter Pylori Gastritis, Megaloblastic Anemia, Subnormal Mentality and Minor Anomalies 19
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 39
Cystic Fibrosis Gastritis Megaloblastic Anemia 19

Characteristics:


Inheritance:

Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome: Autosomal recessive 58

Prevelance:

Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome: Infancy 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


Summaries for Lubani-Al Saleh-Teebi Syndrome

GARD: 19 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 Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.

MalaCards based summary: Lubani-Al Saleh-Teebi Syndrome, also known as cystic fibrosis-gastritis-megaloblastic anemia syndrome, is related to cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation. An important gene associated with Lubani-Al Saleh-Teebi Syndrome is POLE (DNA Polymerase Epsilon, Catalytic Subunit). Affiliated tissues include eye, and related phenotypes are intellectual disability and frontal bossing

Orphanet: 58 A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.

Wikipedia: 75 Lubani Al Saleh Teebi syndrome also known as cystic fibrosis-gastritis-megaloblastic anemia syndrome is... more...

Related Diseases for Lubani-Al Saleh-Teebi Syndrome

Diseases related to Lubani-Al Saleh-Teebi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 11.6

Symptoms & Phenotypes for Lubani-Al Saleh-Teebi Syndrome

Human phenotypes related to Lubani-Al Saleh-Teebi Syndrome:

58 30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
3 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
4 macrotia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000400
5 recurrent respiratory infections 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002205
6 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000431
7 deeply set eye 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000490
8 telecanthus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000506
9 diarrhea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002014
10 folate-unresponsive megaloblastic anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004826
11 gastritis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005263
12 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
13 nephrotic syndrome 58 30 Frequent (33%) Frequent (79-30%)
HP:0000100
14 shawl scrotum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000049
15 glandular hypospadias 58 30 Frequent (33%) Frequent (79-30%)
HP:0000807
16 hypospadias 58 Frequent (79-30%)
17 abnormal erythrocyte morphology 58 Very frequent (99-80%)
18 megaloblastic anemia 58 Very frequent (99-80%)

Drugs & Therapeutics for Lubani-Al Saleh-Teebi Syndrome

Search Clinical Trials, NIH Clinical Center for Lubani-Al Saleh-Teebi Syndrome

Genetic Tests for Lubani-Al Saleh-Teebi Syndrome

Genetic tests related to Lubani-Al Saleh-Teebi Syndrome:

# Genetic test Affiliating Genes
1 Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome 28

Anatomical Context for Lubani-Al Saleh-Teebi Syndrome

Organs/tissues related to Lubani-Al Saleh-Teebi Syndrome:

MalaCards : Eye

Publications for Lubani-Al Saleh-Teebi Syndrome

Articles related to Lubani-Al Saleh-Teebi Syndrome:

# 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

Variations for Lubani-Al Saleh-Teebi Syndrome

ClinVar genetic disease variations for Lubani-Al Saleh-Teebi Syndrome:

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 Lubani-Al Saleh-Teebi Syndrome

Search GEO for disease gene expression data for Lubani-Al Saleh-Teebi Syndrome.

Pathways for Lubani-Al Saleh-Teebi Syndrome

GO Terms for Lubani-Al Saleh-Teebi Syndrome

Sources for Lubani-Al Saleh-Teebi Syndrome

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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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