Cytoscape Web
Click node...

Atypical Gaucher disease due to saposin C deficiency
1 OMIM reference -
1 associated gene
39 connected diseases
No signs/symptoms info
Disease Type of connection
Encephalopathy due to prosaposin deficiency
Infantile Krabbe disease
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Young adult-onset Parkinsonism
CLN10 disease
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Laron syndrome
Primary peritoneal carcinoma
Short stature due to partial GHR deficiency
Heritable pulmonary arterial hypertension
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Angelman syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2C
Familial isolated dilated cardiomyopathy
Fetal Gaucher disease
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
LAMB-2-related infantile-onset nephrotic syndrome
Muscular dystrophy, Selcen type
Pierson syndrome
Synaptic congenital myasthenic syndromes
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 4A
Parkinsonian-pyramidal syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PSAP P07602176801
No signs/symptoms info available.