Disease browser and phenotype portal

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MSeqDR-LSDB
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Intestinal Diseases (D007410)
..Starting node ..Protein-Losing Enteropathies (D011504)
Child Nodes:
........Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency (C563949)
Sister Nodes:
..4-hydroxyphenylacetic aciduria (C535315)
..Cecal Diseases (D002429) 4
..Colonic Diseases (D003108) 78
..Duodenal Diseases (D004378) 20
..Dysentery (D004403) 3
..Enteritis (D004751) 4
..Enterocolitis (D004760) 3
..HIV Enteropathy (D019053)
..Homozygous 11p15-p14 Deletion Syndrome (C564701)
..Ileal Diseases (D007077) 3
..Inflammatory Bowel Diseases (D015212) 31
..Intestinal Atresia (D007409) 11
..Intestinal Diseases, Parasitic (D007411) 10
..Intestinal Fistula (D007412) 2
..Intestinal Neoplasms (D007414) 43
..Intestinal Obstruction (D007415) 31
..Intestinal Perforation (D007416)
..Intestinal Polyposis (D044483) 14
..Jejunal Diseases (D007579) 1
..Malabsorption Syndromes (D008286) 29
..Mesenteric Ischemia (D065666)
..Mesenteric Vascular Occlusion (D008641)
..Neuronal intestinal pseudoobstruction (C537394)
..Pneumatosis Cystoides Intestinalis (D011006)
..Protein-Losing Enteropathies (D011504) 1
..Rectal Diseases (D012002) 48
..Sitosterolemia (C537345)
..Vascular Hyalinosis (C564750)
..Zollinger-Ellison Syndrome (D015043)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9378

Name:

Protein-Losing Enteropathies

Definition:

Pathological conditions in the INTESTINES that are characterized by the gastrointestinal loss of serum proteins, including SERUM ALBUMIN; IMMUNOGLOBULINS; and at times LYMPHOCYTES. Severe condition can result in HYPOGAMMAGLOBULINEMIA or LYMPHOPENIA. Protein-losing enteropathies are associated with a number of diseases including INTESTINAL LYMPHANGIECTASIS; WHIPPLE'S DISEASE; and NEOPLASMS of the SMALL INTESTINE.

Alternative IDs:

OMIM:226300

ParentIDs:

MESH:D007410

TreeNumbers:

C06.405.469.818

Synonyms:

Slim Mappings:

Digestive system disease

Reference:

MedGen: D011504
MeSH: D011504
OMIM: 226300;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002027	Abdominal pain
3	HP:0002242	Abnormal intestine morphology
4	HP:0001541	Ascites
5	HP:0002639	Budd-Chiari syndrome
6	HP:0001217	Clubbing
7	HP:0002014	Diarrhea
8	HP:0000969	Edema
9	HP:0001510	Growth delay
10	HP:0003075	Hypoproteinemia
11	HP:0001891	Iron deficiency anemia

Disease Causing ClinVar Variants