DIAR9
MCID: DRR018
MIFTS: 25

Diarrhea 9 (DIAR9)

Categories: Gastrointestinal diseases, Genetic diseases, Infectious diseases, Nephrological diseases, Oral diseases, Rare diseases

Aliases & Classifications for Diarrhea 9

MalaCards integrated aliases for Diarrhea 9:

Name: Diarrhea 9 57 73 29 6
Diar9 57 73
Diarrhea, Type 9 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
neonatal onset of symptoms


HPO:

31
diarrhea 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618168
OMIM Phenotypic Series 57 PS214700
MeSH 44 D003968

Summaries for Diarrhea 9

OMIM® : 57 Diarrhea-9 is a form of neonatal-onset chronic diarrhea characterized by an osmotic diarrhea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption (O'Connell et al., 2018). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). (618168) (Updated 05-Mar-2021)

MalaCards based summary : Diarrhea 9, is also known as diar9. An important gene associated with Diarrhea 9 is WNT2B (Wnt Family Member 2B). Affiliated tissues include breast, prostate and myeloid, and related phenotypes are failure to thrive and diarrhea

UniProtKB/Swiss-Prot : 73 Diarrhea 9: An autosomal recessive form of chronic diarrhea characterized by neonatal-onset of osmotic diarrhea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption evidenced by high levels of fecal fat.

Related Diseases for Diarrhea 9

Symptoms & Phenotypes for Diarrhea 9

Human phenotypes related to Diarrhea 9:

31
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 diarrhea 31 HP:0002014
3 villous atrophy 31 HP:0011473

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Laboratory Abnormalities:
elevated fecal fat
elevated fecal lactoferrin

Abdomen Gastrointestinal:
diarrhea, chronic severe
inflammatory changes in intestinal tract, chronic
oxyntic atrophy in the stomach
partial villous atrophy in the duodenum
reduced number of crypts
more

Clinical features from OMIM®:

618168 (Updated 05-Mar-2021)

Drugs & Therapeutics for Diarrhea 9

Search Clinical Trials , NIH Clinical Center for Diarrhea 9

Genetic Tests for Diarrhea 9

Genetic tests related to Diarrhea 9:

# Genetic test Affiliating Genes
1 Diarrhea 9 29 WNT2B

Anatomical Context for Diarrhea 9

MalaCards organs/tissues related to Diarrhea 9:

40
Breast, Prostate, Myeloid, Kidney, Thyroid

Publications for Diarrhea 9

Articles related to Diarrhea 9:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. 57 6
29909964 2018
2
Safety and efficacy of pembrolizumab plus lenvatinib versus pembrolizumab and lenvatinib monotherapies in cancers: A systematic review. 61
33338862 2021
3
High Prevalence of Gastrointestinal Manifestations of COVID-19 Infection in Hospitalized Patients With Cancer. 61
33116066 2021
4
Phase II Study of the Triple Combination Chemotherapy of SOXIRI (S-1/Oxaliplatin/Irinotecan) in Patients with Unresectable Pancreatic Ductal Adenocarcinoma. 61
30679316 2019
5
Endoscopic and microscopic findings of gastrointestinal tract in Henoch-Schönlein purpura: Single institute experience with review of literature. 61
31096484 2019
6
Ramucirumab for the treatment of metastatic gastric or gastroesophageal junction adenocarcinoma following disease progression on first-line platinum- or fluoropyrimidine-containing combination therapy in Japanese patients: a phase 2, open-label study. 61
29508095 2018
7
Efficacy of Sequential Ipilimumab Monotherapy versus Best Supportive Care for Unresectable Locally Advanced/Metastatic Gastric or Gastroesophageal Junction Cancer. 61
28655793 2017
8
Therapy of Small Cell Lung Cancer (SCLC) with a Topoisomerase-I-inhibiting Antibody-Drug Conjugate (ADC) Targeting Trop-2, Sacituzumab Govitecan. 61
28679770 2017
9
Pazopanib or placebo in completely resected stage I NSCLC patients: results of the phase II IFCT-0703 trial. 61
28327934 2017
10
Patient-reported quality of life during definitive and postprostatectomy image-guided radiation therapy for prostate cancer. 61
28274402 2017
11
S-1 in combination with docetaxel and oxaliplatin in patients with advanced gastro-esophageal adenocarcinoma: two parallel phase 1/2a studies. 61
27911128 2017
12
Does access to credit services influence availability of essential child medicines and licensing status among private medicine retail outlets in Uganda? 61
28948025 2017
13
Phase I study of safety and pharmacokinetics of the anti-MUC16 antibody-drug conjugate DMUC5754A in patients with platinum-resistant ovarian cancer or unresectable pancreatic cancer. 61
27793850 2016
14
MRI-guided celiac plexus neurolysis for pancreatic cancer pain: Efficacy and safety. 61
27019192 2016
15
Randomized phase III study of bevacizumab plus FOLFIRI and bevacizumab plus mFOLFOX6 as first-line treatment for patients with metastatic colorectal cancer (WJOG4407G). 61
27177863 2016
16
Randomized phase II study of axitinib versus physicians best alternative choice of therapy in patients with recurrent glioblastoma. 61
26935577 2016
17
Concomitant cervical and transperineal parametrial high-dose-rate brachytherapy boost for locally advanced cervical cancer. 61
26985194 2016
18
A Phase II Randomized Study of Lapatinib Combined With Capecitabine, Vinorelbine, or Gemcitabine in Patients With HER2-Positive Metastatic Breast Cancer With Progression After a Taxane (Latin American Cooperative Oncology Group 0801 Study). 61
26642810 2016
19
Translating Clinical Evidence-Based Medicine into the Real World: Single-Center Experience with Cabazitaxel in Metastatic Prostate Cancer Patients. 61
26757168 2016
20
Phase II trial of bevacizumab and erlotinib as a second-line therapy for advanced hepatocellular carcinoma. 61
26929648 2016
21
A first-in-human phase I trial of LY2780301, a dual p70 S6 kinase and Akt Inhibitor, in patients with advanced or metastatic cancer. 61
25902900 2015
22
Phase II trial of miniDOX (reduced dose docetaxel-oxaliplatin-capecitabine) in "suboptimal" patients with advanced gastric cancer (AGC). TTD 08-02. 61
25491381 2015
23
Efficacy and safety of adjunctive armodafinil in adults with major depressive episodes associated with bipolar I disorder: a randomized, double-blind, placebo-controlled, multicenter trial. 61
25099397 2014
24
Fulranumab for treatment of diabetic peripheral neuropathic pain: A randomized controlled trial. 61
25008392 2014
25
A multicenter phase 2 trial of pazopanib in metastatic and progressive medullary thyroid carcinoma: MC057H. 61
24606083 2014
26
A multicenter phase II study of biweekly capecitabine in combination with oxaliplatin as first-line chemotherapy in patients with locally advanced or metastatic gastric cancer. 61
24531611 2014
27
Preoperative chemoradiotherapy with oxaliplatin and tegafur-uracil in locally advanced rectal cancer: pathologic complete response rate and preliminary results of overall and disease-free survival in a single institute in Taiwan. 61
24398439 2014
28
Fatal colchicine poisoning by accidental ingestion of Colchicum persicum: a case report. 61
24196723 2013
29
Adverse events following immunization with oral poliovirus in Kinshasa, Democratic Republic of Congo: preliminary results. 61
24392682 2013
30
Attenuation of the side effect profile of regadenoson: a randomized double-blind placebo-controlled study with aminophylline in patients undergoing myocardial perfusion imaging and have severe chronic kidney disease--the ASSUAGE-CKD trial. 61
23224354 2013
31
XELOX and bevacizumab followed by single-agent bevacizumab as maintenance therapy as first-line treatment in elderly patients with advanced colorectal cancer: the boxe study. 61
23100174 2013
32
Strongyloidiasis: a diagnosis more common than we think. 61
22555259 2012
33
Operationalizing early antiretroviral therapy in HIV-infected in-patients with opportunistic infections including tuberculosis. 61
22687498 2012
34
Phase II trial of continuous once-daily dosing of sunitinib as first-line treatment in patients with metastatic renal cell carcinoma. 61
21898376 2012
35
Phase II study of bevacizumab in combination with trastuzumab and capecitabine as first-line treatment for HER-2-positive locally recurrent or metastatic breast cancer. 61
22467666 2012
36
A phase I study of PF-04929113 (SNX-5422), an orally bioavailable heat shock protein 90 inhibitor, in patients with refractory solid tumor malignancies and lymphomas. 61
21908572 2011
37
Safety and efficacy of bosutinib (SKI-606) in chronic phase Philadelphia chromosome-positive chronic myeloid leukemia patients with resistance or intolerance to imatinib. 61
21865346 2011
38
Clofarabine and busulfan conditioning facilitates engraftment and provides significant antitumor activity in nonremission hematologic malignancies. 61
21841163 2011
39
Rotavirus vaccine and health care utilization for diarrhea in U.S. children. 61
21992123 2011
40
Survival analysis of dogs diagnosed with canine peritoneal larval cestodiasis (Mesocestoides spp.). 61
21497443 2011
41
Intensity-modulated radiation therapy for anal malignancies: a preliminary toxicity and disease outcomes analysis. 61
20231064 2010
42
Erlotinib 150 mg daily plus chemotherapy in advanced pancreatic cancer: an interim safety analysis of a multicenter, randomized, cross-over phase III trial of the 'Arbeitsgemeinschaft Internistische Onkologie'. 61
19770635 2010
43
H1N1 influenza A. Preliminary evaluation in hospitalized patients in a secondary care facility in Saudi Arabia. 61
19936415 2009
44
Overall survival and updated results for sunitinib compared with interferon alfa in patients with metastatic renal cell carcinoma. 61
19487381 2009
45
[Hemolytic uremic syndrome associated to shigatoxin producing Escherichia coli in Chilean children: clinical and epidemiological aspects]. 61
19194606 2008
46
Phase II trial of gemcitabine and irinotecan in previously treated patients with small-cell lung cancer. 61
17483949 2008
47
An open-label, multicenter study of outpatient capecitabine monotherapy in 631 patients with pretreated advanced breast cancer. 61
18004077 2007
48
Cryptosporidiosis: prevalence, genotype analysis, and symptoms associated with infections in children in Kenya. 61
16837712 2006
49
An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment. 61
16199246 2005
50
Chronic diarrhea and AIDS: insights into studies with non-human primates. 61
16022653 2005

Variations for Diarrhea 9

ClinVar genetic disease variations for Diarrhea 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WNT2B NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter) SNV Pathogenic 545432 rs370244148 1:113057518-113057518 1:112514896-112514896
2 WNT2B NM_024494.3(WNT2B):c.313C>T (p.Arg105Ter) SNV Pathogenic 252739 rs879255420 1:113057626-113057626 1:112515004-112515004

Expression for Diarrhea 9

Search GEO for disease gene expression data for Diarrhea 9.

Pathways for Diarrhea 9

GO Terms for Diarrhea 9

Sources for Diarrhea 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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