DiseaseID 26399
贲门失弛缓症-肾上腺皮质功能不全-无泪综合征
Achalasia-Addisonianism-Alacrima Syndrome
NCI2016_02D:A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused in some cases by mutations in the AAAS gene on chromosome 12 which encodes the ALADIN protein of nuclear pore complexes
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Disease: 1Formula: 5Symptom: 6Target: 16Links: 35
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26399
- Core Entity Id
- 118967
- Source Entity Count
- 1
- Preferred Name
- Achalasia-Addisonianism-Alacrima Syndrome
- Name Cn
- 贲门失弛缓症-肾上腺皮质功能不全-无泪综合征
- Name Pinyin
- Ben Men Shi Chi Huan Zheng - Shen Shang Xian Pi Zhi Gong Neng Bu Quan - Wu Lei Zong He Zheng
- Name En
- Achalasia-Addisonianism-Alacrima Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused in some cases by mutations in the AAAS gene on chromosome 12 which encodes the ALADIN protein of nuclear pore complexes. Clinical signs usually appear during the first decade and include alacrima, achalasia, autonomic dysfunction and the sequelae of adrenocortical insufficiency: hypoglycemia and hypotension. For most patients, the clinical course includes a progression of neurologic disability and increased morbidity from autonomic dysfunction.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Achalasia-Addisonianism-Alacrima Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Sym Map
SMDE03294
Etcm Disease
Achalasia-Addisonianism-Alacrima Syndrome
Itcmdb Generated
ITX-DISEASE-6F0BBAC59B9B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Achalasia-Addisonianism-Alacrima Syndrome Details page
Basic Information
Disease Name
Achalasia-Addisonianism-Alacrima Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Eye diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused in some cases by mutations in the AAAS gene on chromosome 12 which encodes the ALADIN protein of nuclear pore complexes. Clinical signs usually appear during the first decade and include alacrima, achalasia, autonomic dysfunction and the sequelae of adrenocortical insufficiency: hypoglycemia and hypotension. For most patients, the clinical course includes a progression of neurologic disability and increased morbidity from autonomic dysfunction.