DIAR10
MCID: DRR020
MIFTS: 15

Diarrhea 10, Protein-Losing Enteropathy Type (DIAR10)

Categories: Gastrointestinal diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Diarrhea 10, Protein-Losing Enteropathy Type

MalaCards integrated aliases for Diarrhea 10, Protein-Losing Enteropathy Type:

Name: Diarrhea 10, Protein-Losing Enteropathy Type 58 76 6
Diar10 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
intrafamilial variability
dysmorphic features may be evident prenatally
severe diarrhea results in death in infancy in some patients molecular basis: caused by mutation in the plasmalemma vesicle-associated protein gene (plvap, )


Classifications:



External Ids:

OMIM 58 618183
MeSH 45 D003968

Summaries for Diarrhea 10, Protein-Losing Enteropathy Type

OMIM : 58 Diarrhea-10 is a protein-losing enteropathy characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients (Broekaert et al., 2018; Kurolap et al., 2018). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). (618183)

MalaCards based summary : Diarrhea 10, Protein-Losing Enteropathy Type, is also known as diar10. An important gene associated with Diarrhea 10, Protein-Losing Enteropathy Type is PLVAP (Plasmalemma Vesicle Associated Protein). Affiliated tissues include kidney, thyroid and small intestine.

UniProtKB/Swiss-Prot : 76 Diarrhea 10, protein-losing enteropathy type: An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities.

Related Diseases for Diarrhea 10, Protein-Losing Enteropathy Type

Diseases in the Diarrhea 7, Protein-Losing Enteropathy Type family:

Diarrhea 10, Protein-Losing Enteropathy Type

Symptoms & Phenotypes for Diarrhea 10, Protein-Losing Enteropathy Type

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Laboratory Abnormalities:
hypertriglyceridemia
hypocalcemia
hyponatremia
hypoalbuminemia
hypomagnesemia
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Abdomen Gastrointestinal:
hematochezia
protein-losing enteropathy
secretory diarrhea
edema of stomach
edema of small intestine
more
Respiratory Lung:
pleural effusion

Genitourinary Kidneys:
polyuria
dilated renal pelvis
dysplastic kidneys, mild

Immunology:
hypogammaglobulinemia

Genitourinary Ureters:
dilated ureters

Cardiovascular Vascular:
thrombosis of the portal vein
thrombosis of multiple vessels

Endocrine Features:
hypothyroidism
markedly elevated thyroid-stimulating hormone (tsh)
undetectable free thyroxine level

Abdomen External Features:
ascites

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Metabolic Features:
metabolic acidosis

Cardiovascular Heart:
pericardial effusion
atrial septal defect, small
ventricular septal defect, small

Muscle Soft Tissue:
anasarca

Head And Neck Neck:
nuchal edema

Head And Neck Eyes:
bilateral colobomas (in 1 patient)
multiple iris cysts (in 1 patient)

Clinical features from OMIM:

618183

Drugs & Therapeutics for Diarrhea 10, Protein-Losing Enteropathy Type

Search Clinical Trials , NIH Clinical Center for Diarrhea 10, Protein-Losing Enteropathy Type

Genetic Tests for Diarrhea 10, Protein-Losing Enteropathy Type

Anatomical Context for Diarrhea 10, Protein-Losing Enteropathy Type

MalaCards organs/tissues related to Diarrhea 10, Protein-Losing Enteropathy Type:

42
Kidney, Thyroid, Small Intestine

Publications for Diarrhea 10, Protein-Losing Enteropathy Type

Variations for Diarrhea 10, Protein-Losing Enteropathy Type

ClinVar genetic disease variations for Diarrhea 10, Protein-Losing Enteropathy Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLVAP NM_031310.2(PLVAP): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 17365393: 17365393
2 PLVAP NM_031310.2(PLVAP): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 17476202: 17476202
3 PLVAP NM_031310.2(PLVAP): c.988C> T (p.Gln330Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 17476286: 17476286
4 PLVAP NM_031310.2(PLVAP): c.988C> T (p.Gln330Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 17365477: 17365477
5 PLVAP NM_031310.2(PLVAP): c.101T> C (p.Leu34Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 17487997: 17487997
6 PLVAP NM_031310.2(PLVAP): c.101T> C (p.Leu34Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 17377188: 17377188

Expression for Diarrhea 10, Protein-Losing Enteropathy Type

Search GEO for disease gene expression data for Diarrhea 10, Protein-Losing Enteropathy Type.

Pathways for Diarrhea 10, Protein-Losing Enteropathy Type

GO Terms for Diarrhea 10, Protein-Losing Enteropathy Type

Sources for Diarrhea 10, Protein-Losing Enteropathy Type

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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