| Concept UI |
CON00098 (Tree)
|
| Name |
Combined saposin deficiency
|
| Aliases |
prosaposin deficiency
saposin deficiency
|
| Disease name: Preferred Term |
COMBINED SAPOSIN DEFICIENCY
|
| Disease name: Synonyms (from OMIM and MeSH) |
PSAPD
COMBINED SAP DEFICIENCY
PROSAPOSIN DEFICIENCY
|
| UMLS CUI |
C2673635
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C567125
|
| OMIM DATA: Gene |
PSAP
|
| OMIM DATA: Gene Number |
176801
|
| OMIM DATA: Phenotype Number |
611721
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Central Nervous System Diseases
- Demyelinating Diseases
- Dyskinesias
- Eye Diseases
- Fasciculation (Spontaneous contraction of muscle)
- Feeding and Eating Disorders of Childhood
- Hepatomegaly
- Hereditary Central Nervous System Demyelinating Diseases
- Heredodegenerative Disorders, Nervous System
- Liver Diseases
- Lymphatic Diseases
- Malformations of Cortical Development
- Mental Disorders Diagnosed in Childhood
- Movement Disorders
- Muscle Hypotonia
- Myoclonus
- Nervous System Malformations
- Neurodegenerative Diseases
- Neurologic Manifestations
- Neuromuscular Manifestations
- Ocular Motility Disorders
- Respiration Disorders
- Respiratory Insufficiency
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Seizures
- Splenic Diseases
- Cranial Nerve Diseases
- Epilepsy
- Eye Diseases, Hereditary
- Optic Atrophies, Hereditary
- Optic Atrophy
- Hyperkinesis
|
|
References
|
- Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
- Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
97
|