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Enterokinase deficiency

MedGen UID:
82802
Concept ID:
C0268416
Disease or Syndrome
Synonyms: Congenital enteropathy due to enteropeptidase deficiency; Deficiency of enteropeptidase; ENTEROPEPTIDASE DEFICIENCY
SNOMED CT: Deficiency of enterokinase (124498007); Deficiency of enteropeptidase (124498007); Congenital enterokinase deficiency (56661000); Congenital enteropathy due to enteropeptidase deficiency (56661000); Intestinal enteropeptidase deficiency (56661000); Intestinal enterokinase deficiency (56661000); Intestinal pseudo-trypsinogen deficiency (56661000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): TMPRSS15 (21q21.1)
 
Monarch Initiative: MONDO:0009173
OMIM®: 226200
Orphanet: ORPHA168601

Definition

Deficiency of enterokinase, a sequence-specific protease that activates trypsinogen (see 276000) and has a major role in protein digestion, is an autosomal recessive disorder characterized by severe protein malabsorption in early infancy, with failure to thrive, chronic diarrhea, and generalized edema. In adulthood, patients have normal body weight and no gastrointestinal symptoms, even when pancreatic enzyme supplements are discontinued (summary by Holzinger et al., 2002). [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.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hypoproteinemia
MedGen UID:
581229
Concept ID:
C0392692
Finding
A decreased concentration of protein in the blood.
Hypoproteinemic edema
MedGen UID:
870387
Concept ID:
C4024832
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEnterokinase deficiency
Follow this link to review classifications for Enterokinase deficiency in Orphanet.

Recent clinical studies

Etiology

Lebenthal E, Antonowicz I, Shwachman H
Gastroenterology 1976 Apr;70(4):508-12. PMID: 943355

Diagnosis

Chen Y, Li Z, Liu C, Wang S
Pediatr Dermatol 2023 Mar;40(2):389-391. Epub 2022 Nov 21 doi: 10.1111/pde.15197. PMID: 36410965
Murray KM, Oliveira SB
J Pediatr 2021 Apr;231:49. doi: 10.1016/j.jpeds.2020.11.035. PMID: 33766300
Lentze M
Georgian Med News 2014 May;(230):46-53. PMID: 24940857
Follett GF, Macdonald TH
Acta Paediatr Scand 1976 Sep;65(5):653-5. doi: 10.1111/j.1651-2227.1976.tb04948.x. PMID: 961414
Lebenthal E, Antonowicz I, Shwachman H
Gastroenterology 1976 Apr;70(4):508-12. PMID: 943355

Therapy

Murray KM, Oliveira SB
J Pediatr 2021 Apr;231:49. doi: 10.1016/j.jpeds.2020.11.035. PMID: 33766300
Ghishan FK, Lee PC, Lebenthal E, Johnson P, Bradley CA, Greene HL
Gastroenterology 1983 Sep;85(3):727-31. PMID: 6347801
Lebenthal E, Antonowicz I, Shwachman H
Gastroenterology 1976 Apr;70(4):508-12. PMID: 943355
Hadorn B, Haworth JC, Gourley B, Prasad A, Troesch V
Arch Dis Child 1975 Apr;50(4):277-82. doi: 10.1136/adc.50.4.277. PMID: 1147667Free PMC Article
Tarlow MJ, Hadorn B, Arthurton MW, Lloyd JK
Arch Dis Child 1970 Oct;45(243):651-5. doi: 10.1136/adc.45.243.651. PMID: 5477679Free PMC Article

Prognosis

Lentze M
Georgian Med News 2014 May;(230):46-53. PMID: 24940857
Harosh I
Curr Pharm Biotechnol 2014;14(13):1093-8. doi: 10.2174/1389201015666140408124559. PMID: 24725128

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