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Metachromatic leukodystrophy, late infantile form
2 associated genes
41 connected diseases
No signs/symptoms info
Disease Type of connection
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Atypical Gaucher disease due to saposin C deficiency
Encephalopathy due to prosaposin deficiency
Infantile Krabbe disease
Young adult-onset Parkinsonism
Heritable pulmonary arterial hypertension
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
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
Idiopathic pulmonary arterial hypertension
Pulmonary venoocclusive disease
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):
- Arylsulfatase A deficiency, late infantile form
- MLD, late infantile form
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
ARSA P15289607574
PSAP P07602176801
No signs/symptoms info available.