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Dehydratase deficiency
1 OMIM reference -
1 associated gene
43 connected diseases
No signs/symptoms info
Disease Type of connection
MODY syndrome
Hyperinsulinism due to HNF1A deficiency
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
17q12 microdeletion syndrome
Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal recessive primary microcephaly
Brugada syndrome
Cabezas syndrome
Classic Mayer-Rokitansky-Küster-Hauser syndrome
Classical phenylketonuria
Familial prostate cancer
Hyperinsulinism due to HNF4A deficiency
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
MURCS association
Maternal hyperphenylalaninemia
Mild hyperphenylalaninemia
Mild phenylketonuria
Odontoleukodystrophy
Pseudohypoaldosteronism type 2E
Renal cysts and diabetes syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Tetrahydrobiopterin-responsive hyperphenylalaninemia / phenylketonuria
Timothy syndrome
Blackfan-Diamond anemia
Alternating hemiplegia of childhood
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant spastic paraplegia type 10
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Giant cell glioblastoma
Gliosarcoma
Hypohidrotic ectodermal dysplasia with immunodeficiency
Intellectual deficit - sparse hair - brachydactyly
Rapid-onset dystonia-parkinsonism
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Synonym(s):
- Hyperphenylalaninemia due to dehydratase deficiency
- Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PCBD1 P61457126090
No signs/symptoms info available.