01
AP3B1
adaptor related protein complex 3 subunit beta 1
adaptor related protein complex 3 subunit beta 1
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Hermansky-Pudlak Syndrome 3
- Standard Disease Name
- hermansky-pudlak syndrome 3
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D064068
- OMIM ID
- No data
- UMLS ID
- C0341299
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal.|MSH2017_2016_08_12:A malabsorption syndrome characterized by collagenous mucosal lesions of the SMALL INTESTINE, atrophy of MICROVILLI, severe malabsorption, diarrhea, and MALNUTRITION often refractory to a gluten-free diet.