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1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 1

Pseudohypoaldosteronism type 2E

1 OMIM reference -
1 associated gene
No signs/symptoms info

Fucosidosis

Pseudohypoaldosteronism type 2E

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FUCA1	(0.63)	CUL3

Citations in the biomedical literature:

Fucosidosis		Pseudohypoaldosteronism type 2E
	Synonym(s): - Alpha-L-fucosidase deficiency		Synonym(s): - PHA2E

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the circulatory system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D005645		External references: 1 OMIM reference - No MeSH references

Fucosidosis
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Brachycephaly / flat occiput - Coarse face - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Facial dysmorphism - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperhidrosis / increased sweating - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypothyroidy - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Lipoatrophy - Motor deficit / trouble - Mucopolysacchariduria - Vascular anomalies of skin / mucosae Frequent - Corneal clouding / opacity / vascularisation - Gallbladder / common bile duct anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Repeat respiratory infections - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly - Storage liver disease - Structural anomalies of the cardio-circulatory system Occasional - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of teeth and dentition - Cardiomegaly - Nails anomalies - Pyramidal syndrome
Pseudohypoaldosteronism type 2E
(no data available)