DiseaseID 25929
Ⅰa型先天性糖基化障碍
Congenital Disorder Of Glycosylation, Type Ia
JABL99:Partial deficiency of N-linked glycans of secretory glycoproteins, lysosomal enzymes, membranous glycoproteins. Phosphomannomutase (E.C. 5.4.2.8) deficiency is the basic metabolic defect. Stabismus with rowing eye
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Disease: 1Herb: 1Symptom: 10Target: 19Links: 35
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25929
- Core Entity Id
- 118497
- Source Entity Count
- 1
- Preferred Name
- Congenital Disorder Of Glycosylation, Type Ia
- Name Cn
- Ⅰa型先天性糖基化障碍
- Name Pinyin
- Ⅰa Xing Xian Tian Xing Tang Ji Hua Zhang Ai
- Name En
- Congenital Disorder Of Glycosylation, Type Ia
- 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
- JABL99:Partial deficiency of N-linked glycans of secretory glycoproteins, lysosomal enzymes, membranous glycoproteins. Phosphomannomutase (E.C. 5.4.2.8) deficiency is the basic metabolic defect. Stabismus with rowing eye movements, polyneuropathy, axial hypotonia, severe psychomotor retardation, ataxia, and hyporeflexia are the leading symptoms. Large dysplasgtic ears, abnormal subcutaneous fat distribution, orange peel skin, skeletal anomalies, abnormal subcutaneous fat distribution, and other defects may be associated. Some case exhibit symptoms of Donohue syndrome (or leprechaunism) with lipodystrophy and lack of adipose tissue, grotesque small face, large phallus, hyperplastic breasts in females, hyperplasia of Leydig cell and islands of Langerhans; Smith-Lemli-Opitz syndrome with characteristic facies, whitish blond hair, genital anomalies, cleft palate, and Marfan syndrome with dysplastic ears, stature, little subcutaneous fat, hypotonia, and arachnodactyly.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Congenital Disorder Of Glycosylation, Type Ia
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0349653
Sym Map
SMDE01099
Etcm Disease
Congenital Disorder of Glycosylation, Type Ia
Itcmdb Generated
ITX-DISEASE-A9542DE97900
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Congenital Disorder of Glycosylation, Type Ia Details page
Basic Information
Disease Name
Congenital Disorder of Glycosylation, Type Ia
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Immune diseases;Liver diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases;Smell/Taste diseases
Disease Definition
JABL99:Partial deficiency of N-linked glycans of secretory glycoproteins, lysosomal enzymes, membranous glycoproteins. Phosphomannomutase (E.C. 5.4.2.8) deficiency is the basic metabolic defect. Stabismus with rowing eye movements, polyneuropathy, axial hypotonia, severe psychomotor retardation, ataxia, and hyporeflexia are the leading symptoms. Large dysplasgtic ears, abnormal subcutaneous fat distribution, orange peel skin, skeletal anomalies, abnormal subcutaneous fat distribution, and other defects may be associated. Some case exhibit symptoms of Donohue syndrome (or leprechaunism) with lipodystrophy and lack of adipose tissue, grotesque small face, large phallus, hyperplastic breasts in females, hyperplasia of Leydig cell and islands of Langerhans; Smith-Lemli-Opitz syndrome with characteristic facies, whitish blond hair, genital anomalies, cleft palate, and Marfan syndrome with dysplastic ears, stature, little subcutaneous fat, hypotonia, and arachnodactyly.