MCID: CYS040
MIFTS: 19

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

Categories: Gastrointestinal diseases, Mental diseases, Neuronal diseases, Rare diseases

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 56 29
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome 58
Lubani-Al Saleh-Teebi Syndrome 58
Lubani Al Saleh Teebi Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
cystic fibrosis-gastritis-megaloblastic anemia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
reported in 2 sibs (february 1991)


HPO:

31
cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


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 cystic fibrosis-gastritis-megaloblastic anemia syndrome, is related to lubani-al saleh-teebi syndrome. Affiliated tissues include eye, and related phenotypes are intellectual disability and hypertelorism

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 12.0

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:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
4 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
7 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
8 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
9 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
10 folate-unresponsive megaloblastic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004826
11 gastritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005263
12 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
13 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
14 shawl scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000049
15 glandular hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000807
16 hypospadias 58 31 Frequent (79-30%) HP:0000047
17 megaloblastic anemia 58 31 Very frequent (99-80%) HP:0001889
18 emphysema 31 HP:0002097
19 biliary cirrhosis 31 HP:0002613
20 exocrine pancreatic insufficiency 31 HP:0001738
21 long face 31 HP:0000276
22 hypercalciuria 31 HP:0002150
23 recurrent pneumonia 31 HP:0006532
24 large earlobe 31 HP:0009748
25 infertility 31 HP:0000789
26 abnormal erythrocyte morphology 58 Very frequent (99-80%)
27 recurrent bronchopulmonary infections 31 HP:0006538
28 biliary tract obstruction 31 HP:0005230
29 cor pulmonale 31 HP:0001648
30 reduced blood folate concentration 31 HP:0100507
31 meconium ileus 31 HP:0004401
32 microscopic nephrocalcinosis 31 HP:0008327

Symptoms via clinical synopsis from OMIM:

56
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

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...

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

# Genetic test Affiliating Genes
1 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 29

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

MalaCards organs/tissues related to Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation:

40
Eye

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
Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome? 56
2029916 1991
2
Unidentified curved bacilli on gastric epithelium in active chronic gastritis. 56
6134060 1983

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

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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