DIAR10
MCID: DRR020
MIFTS: 23

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 57 72 29 6
Diar10 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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, )


HPO:

31
diarrhea 10, protein-losing enteropathy type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Diarrhea 10, Protein-Losing Enteropathy Type

OMIM® : 57 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) (Updated 05-Apr-2021)

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 small intestine and thyroid, and related phenotypes are hypothyroidism and hypertriglyceridemia

UniProtKB/Swiss-Prot : 72 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

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

Human phenotypes related to Diarrhea 10, Protein-Losing Enteropathy Type:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 HP:0000821
2 hypertriglyceridemia 31 HP:0002155
3 ascites 31 HP:0001541
4 cryptorchidism 31 HP:0000028
5 low-set ears 31 HP:0000369
6 polyhydramnios 31 HP:0001561
7 hyponatremia 31 HP:0002902
8 hypocalcemia 31 HP:0002901
9 hematochezia 31 HP:0002573
10 hypoalbuminemia 31 HP:0003073
11 metabolic acidosis 31 HP:0001942
12 pleural effusion 31 HP:0002202
13 pericardial effusion 31 HP:0001698
14 renal dysplasia 31 HP:0000110
15 hypomagnesemia 31 HP:0002917
16 protein-losing enteropathy 31 HP:0002243
17 anasarca 31 HP:0012050
18 secretory diarrhea 31 HP:0005208
19 polyuria 31 HP:0000103
20 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
hypothyroidism
markedly elevated thyroid-stimulating hormone (tsh)
undetectable free thyroxine level

Abdomen External Features:
ascites

Head And Neck Ears:
low-set ears

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

Muscle Soft Tissue:
anasarca

Immunology:
hypogammaglobulinemia

Genitourinary Ureters:
dilated ureters

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

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Metabolic Features:
metabolic acidosis

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

Genitourinary Kidneys:
polyuria
dilated renal pelvis
dysplastic kidneys, mild

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 (Updated 05-Apr-2021)

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

Genetic tests related to Diarrhea 10, Protein-Losing Enteropathy Type:

# Genetic test Affiliating Genes
1 Diarrhea 10, Protein-Losing Enteropathy Type 29 PLVAP

Anatomical Context for Diarrhea 10, Protein-Losing Enteropathy Type

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

40
Small Intestine, Thyroid

Publications for Diarrhea 10, Protein-Losing Enteropathy Type

Articles related to Diarrhea 10, Protein-Losing Enteropathy Type:

# Title Authors PMID Year
1
Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype. 57 6
29875123 2018
2
Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. 57 6
29661969 2018
3
Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia. 57 6
26207260 2015
4
Novel PLVAP Mutation in Protein Losing Enteropathy. 61
31215290 2019

Variations for Diarrhea 10, Protein-Losing Enteropathy Type

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLVAP NM_031310.3(PLVAP):c.1072C>T (p.Arg358Ter) SNV Pathogenic 590326 rs761158492 GRCh37: 19:17476202-17476202
GRCh38: 19:17365393-17365393
2 PLVAP NM_031310.3(PLVAP):c.988C>T (p.Gln330Ter) SNV Pathogenic 590327 rs199712527 GRCh37: 19:17476286-17476286
GRCh38: 19:17365477-17365477
3 PLVAP NM_031310.3(PLVAP):c.101T>C (p.Leu34Pro) SNV Pathogenic 590328 rs1568378665 GRCh37: 19:17487997-17487997
GRCh38: 19:17377188-17377188

UniProtKB/Swiss-Prot genetic disease variations for Diarrhea 10, Protein-Losing Enteropathy Type:

72
# Symbol AA change Variation ID SNP ID
1 PLVAP p.Leu34Pro VAR_081738 rs156837866

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

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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