DIAR11
MCID: DRR021
MIFTS: 24

Diarrhea 11, Malabsorptive, Congenital (DIAR11)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Diarrhea 11, Malabsorptive, Congenital

MalaCards integrated aliases for Diarrhea 11, Malabsorptive, Congenital:

Name: Diarrhea 11, Malabsorptive, Congenital 56 6
Intractable Diarrhea of Infancy Syndrome; Idis 56
Intractable Diarrhea of Infancy Syndrome 56
Diar11 56
Idis 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset within the first 3 weeks of life
parenteral nutrition required in the first decade of life


Classifications:



External Ids:

OMIM 56 618662
OMIM Phenotypic Series 56 PS214700

Summaries for Diarrhea 11, Malabsorptive, Congenital

OMIM : 56 Diarrhea-11 (DIAR11) is characterized by onset of intractable malabsorptive diarrhea within the first few weeks of life (Oz-Levi et al., 2019). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). (618662)

MalaCards based summary : Diarrhea 11, Malabsorptive, Congenital, also known as intractable diarrhea of infancy syndrome; idis, is related to diarrhea 2, with microvillus atrophy and genetic intractable diarrhea of infancy. An important gene associated with Diarrhea 11, Malabsorptive, Congenital is PERCC1 (Proline And Glutamate Rich With Coiled Coil 1). The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include testes.

Related Diseases for Diarrhea 11, Malabsorptive, Congenital

Diseases in the Diarrhea 4, Malabsorptive, Congenital family:

Diarrhea 11, Malabsorptive, Congenital

Diseases related to Diarrhea 11, Malabsorptive, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 diarrhea 2, with microvillus atrophy 11.2
2 genetic intractable diarrhea of infancy 11.2
3 cerebral palsy 10.2
4 dystonia 10.2
5 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1
6 yemenite deaf-blind hypopigmentation syndrome 10.1
7 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1
8 coronary heart disease 1 10.1
9 anxiety 10.1
10 microvascular complications of diabetes 5 10.1
11 dyskinetic cerebral palsy 10.1
12 silicosis 10.1
13 melanoma 10.1
14 dental caries 10.1
15 teratoma 10.1
16 intermediate coronary syndrome 10.1
17 skin melanoma 10.1
18 back pain 10.1
19 head injury 10.1
20 spasticity 10.1

Graphical network of the top 20 diseases related to Diarrhea 11, Malabsorptive, Congenital:



Diseases related to Diarrhea 11, Malabsorptive, Congenital

Symptoms & Phenotypes for Diarrhea 11, Malabsorptive, Congenital

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
intractable malabsorptive diarrhea, congenital
partial villous atrophy, mild to severe (in some patients)

Clinical features from OMIM:

618662

Drugs & Therapeutics for Diarrhea 11, Malabsorptive, Congenital

Drugs for Diarrhea 11, Malabsorptive, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polyestradiol phosphate Approved Phase 2, Phase 3 28014-46-2
2
Estradiol Approved, Investigational, Vet_approved Phase 2, Phase 3 50-28-2 5757
3
Etonogestrel Approved, Investigational Phase 2, Phase 3 54048-10-1 6917715 40976
4
Ethinyl Estradiol Approved Phase 2, Phase 3 57-63-6 5991
5
Desogestrel Approved Phase 2, Phase 3 54024-22-5 40973
6 Hormones Phase 2, Phase 3
7 Estradiol 17 beta-cypionate Phase 2, Phase 3
8 Estradiol 3-benzoate Phase 2, Phase 3
9 Estrogens Phase 2, Phase 3
10 Contraceptives, Oral Phase 2, Phase 3
11 Hormone Antagonists Phase 2, Phase 3
12 Contraceptive Agents Phase 2, Phase 3
13 Progestins Phase 2, Phase 3
14
Spironolactone Approved Phase 1, Phase 2 52-01-7, 1952-01-7 5833
15
Testosterone Approved, Experimental, Investigational Phase 1, Phase 2 58-22-0, 481-30-1 6013 10204
16 Vaccines

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Safety and Acceptability of Vaginal Rings That Protect Women From Unintended Pregnancy Completed NCT01796613 Phase 2, Phase 3
2 Transgender Youth and PrEP: PK, Safety, Uptake & Adherence Recruiting NCT03652623 Phase 1, Phase 2 TDF/FTC
3 Impact Assessment of the Rural Response System to Reduce Violence Against Women in Ghana Unknown status NCT03237585
4 mHealth - A Novel Approach to Improve Child Nutrition in India Completed NCT01645163
5 Qualitative Assessment of Acceptability of Vaginal Ring (VR) and Oral Pre-exposure Prophylaxis (PrEP) Use During Pregnancy and Breastfeeding Completed NCT03648931
6 Assessment of ASPIRE and HOPE Adherence Completed NCT02702895
7 Optifood, An Approach to Improve Nutrition Completed NCT01646710
8 Community ART for Retention in Zambia: Evaluating the Feasibility, Effectiveness, and Efficiency of Decentralized and Streamlined Antiretroviral Therapy Care Models Completed NCT02776254
9 Implementing and Evaluating a Multi-Level Intervention to Increase Latrine Use and Safe Feces Disposal Among Latrine Owning Households in Rural Puri District, Odisha, India Completed NCT03274245
10 Evaluation of the Maternal and Child Survival Program (MCSP) in Mozambique Using Mixed Methods Completed NCT03774602
11 Improving HIV Prevention and Sexual and Reproductive Health Care in High Risk Women in Rwanda Using Lessons Learnt From Previous Rinda Ubuzima Projects Completed NCT03045809
12 Increasing Equitable Access to Safe Deliveries in Zambia Completed NCT02620436
13 Transitioning Adolescents to HIV Self-Management in Zambia (Known as: Project YES: Youth Engaging for Success) Completed NCT04115813
14 Menstrual Health Interventions and School Attendance Among Ugandans Completed NCT04064736
15 Male Circumcision for HIV Prevention in Kenya: Seeking Effective Strategies to Recruit Older Men Completed NCT02497989
16 Randomized Order, Controlled, Double Blind, Crossover Early Phase 1 Pilot Study to Assess Safety and Pharmacokinetics of a Tenofovir Disoproxil Fumarate and Emtricitabine (TDF-FTC) Releasing IVR Over 28 Days Compared to Placebo Recruiting NCT03255915 Early Phase 1 Tenofovir Disoproxil Fumarate (TDF)-Emtricitabine (FTC)
17 Linkage to Community-Based HIV Pre-Exposure Prophylaxsis Care Among at Risk Women Upon Release From Incarceration Recruiting NCT03281343
18 Jovenes Sanos: Preventing IPV and Reproductive Coercion Among Underserved Adolescents Recruiting NCT03660514
19 A Cluster Randomized Controlled Trial for Measuring the Impact of Tipping Point - an Intervention Addressing Child Marriage in Selected District of Bangladesh Recruiting NCT03965273
20 IDIS Project Work Package 2: Establishing a Biobank at ITM and Collaborating Centres Active, not recruiting NCT02689193
21 Evaluation of a Community Engagement and Demand Creation Strategy for Childhood Diarrhea and Pneumonia in Pakistan Active, not recruiting NCT03594279
22 Transgender Youth and PrEP: PK, Safety, Uptake & Adherence Enrolling by invitation NCT04077138
23 Dual Purpose Prevention (DPP) Product Preferences Among Couples Not yet recruiting NCT04023799
24 Planning the mPACT Trial - mHealth Strategies for the Pediatric to Adult HIV Care Transition Not yet recruiting NCT03876483
25 Transgender Youth and PrEP: PK, Safety, Uptake & Adherence Not yet recruiting NCT04077151
26 A Study to Evaluate the Effectiveness of e-IMCI Implementation Compared to Standard of Care for Sick Children Aged Under Five Years in Primary Health Care Clinics in KwaZulu-Natal, South Africa. Not yet recruiting NCT04074083
27 Developing and Testing a Multi-level Package of Interventions for an Integrated Care Delivery Model of HIV Prevention and Treatment Targeting Adolescent Girls in Zambia Not yet recruiting NCT03995953
28 Open Label Prospective Study of Strategies to Combine Pre-Exposure Prophylaxis (PrEP)With Prevention Efforts Withdrawn NCT01832571 Once daily Truvada®

Search NIH Clinical Center for Diarrhea 11, Malabsorptive, Congenital

Genetic Tests for Diarrhea 11, Malabsorptive, Congenital

Anatomical Context for Diarrhea 11, Malabsorptive, Congenital

MalaCards organs/tissues related to Diarrhea 11, Malabsorptive, Congenital:

40
Testes

Publications for Diarrhea 11, Malabsorptive, Congenital

Articles related to Diarrhea 11, Malabsorptive, Congenital:

# Title Authors PMID Year
1
Noncoding deletions reveal a gene that is critical for intestinal function. 56 6
31217582 2019
2
Congenital intractable diarrhea of infancy in Iraqi Jews. 56
9111996 1997
3
Intractable diarrhea in early infancy. 56
5643979 1968
4
The constitutive exocytotic pathway in microvillous atrophy. 61
8271121 1993
5
Congenital microvillous atrophy: specific diagnostic features. 61
3977385 1985

Variations for Diarrhea 11, Malabsorptive, Congenital

ClinVar genetic disease variations for Diarrhea 11, Malabsorptive, Congenital:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PERCC1 ICR, 7013-BP DELdeletion Pathogenic 694448
2 PERCC1 ICR, 3,101-BP DELdeletion Pathogenic 694449

Expression for Diarrhea 11, Malabsorptive, Congenital

Search GEO for disease gene expression data for Diarrhea 11, Malabsorptive, Congenital.

Pathways for Diarrhea 11, Malabsorptive, Congenital

GO Terms for Diarrhea 11, Malabsorptive, Congenital

Sources for Diarrhea 11, Malabsorptive, Congenital

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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