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Diarrhea 13(DIAR13)

MedGen UID:: 1841113
•Concept ID:: C5830477
•: Disease or Syndrome

Synonym:	DIAR13

Gene (location): Gene(s) directly associated with this condition or phenotype.	ACSL5 (10q25.2)

Monarch Initiative:	MONDO:0957253
OMIM®:	620357

Definition

Diarrhea-13 (DIAR13) is characterized by neonatal onset of recurrent vomiting and chronic watery diarrhea, resulting in severe failure to thrive. Supportive treatment includes medium-chain triglyceride (MCT)-based formula and/or total parenteral nutrition (TPN), and symptoms resolve after the age of 18 months (Al-Thihli et al., 2021). For a discussion of genetic heterogeneity of congenital diarrhea, see DIAR1 (214700). [from OMIM]

Clinical features

From HPO

Failure to thrive

MedGen UID:: 746019
•Concept ID:: C2315100
•: Disease or Syndrome

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

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Vomiting

MedGen UID:: 12124
•Concept ID:: C0042963
•: Sign or Symptom

Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.

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Secretory diarrhea

MedGen UID:: 75635
•Concept ID:: C0267557
•: Disease or Syndrome

Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.

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Hepatic steatosis

MedGen UID:: 398225
•Concept ID:: C2711227
•: Disease or Syndrome

Steatosis is a term used to denote lipid accumulation within hepatocytes.

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Hypoalbuminemia

MedGen UID:: 68694
•Concept ID:: C0239981
•: Finding

Reduction in the concentration of albumin in the blood.

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Recurrent hypoglycemia

MedGen UID:: 335382
•Concept ID:: C1846288
•: Finding

Recurrent episodes of decreased concentration of glucose in the blood.

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Elevated circulating hepatic transaminase concentration

MedGen UID:: 338525
•Concept ID:: C1848701
•: Finding

Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

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Abnormality of metabolism/homeostasis
Abnormality of the digestive system
Growth abnormality
- Failure to thrive

Professional guidelines

PubMed

A systemic review and meta-analysis of Aflibercept plus FOLFIRI regimen as a second-line treatment for metastatic colorectal cancer: A PRISMA compliant pooled analysis of randomized controlled trials and single arm studies to assess efficacy and safety.

Thakur A, Chorawala MR, Patel RS
Crit Rev Oncol Hematol 2023 Aug;188:104034. Epub 2023 May 29 doi: 10.1016/j.critrevonc.2023.104034. PMID: 37257732

Real-World Evidence: Multicenter Efficacy and Toxicity Analysis of Nintedanib With Docetaxel as Second-Line Treatment in Mexican Patients With Advanced Lung Adenocarcinoma.

Rodríguez-Cid JR, Campos-Gomez S, García-Montes V, Magallanes-Maciel M, Flores-Mariñelarena RR, Fernández-Garibay VM, González-Espinoza IR, Ceja-García JP, Cázarez-Price JC, Martínez-Barrera L, Barriguete-Parra L, Zuloaga-Fernandez CJ, Kuri-Exsome R, Suárez-García D, Gonzalez-Villanueva JI, Flores-Anaya N, Acevedo-Delgado JA, Astorga-Ramos AM, Gerson-Cwilich R, Villalobos-Prieto A, Rodríguez-Silva C, Noriega-Iriondo MF, Vázquez-Cortés L, Perales-Rodríguez E, Acosta-Espinoza A, Perez-Lozano Y, Capdeville-García D, Alatorre-Alexander JA
JCO Glob Oncol 2020 Mar;6:462-470. doi: 10.1200/JGO.19.00330. PMID: 32196388 Free PMC Article

Treatment of metastatic colorectal adenocarcinoma with fluorouracil and high-dose leucovorin: a pilot study.

Hsieh RK, Fan S, Lin JK, Liang CL, Lin TC, Tzeng CH, Hsu H, Chen PM
Zhonghua Yi Xue Za Zhi (Taipei) 1989 Mar;43(3):159-64. PMID: 2790583

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Diarrhea 13(DIAR13)

Definition

Clinical features

Professional guidelines

PubMed

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