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17q12 microdeletion syndrome
1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
Dehydratase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
17q12 microdeletion syndrome
Dehydratase deficiency

HNF1B
(UniProt - OMIM)
 PCBD1
(UniProt - OMIM)
LHX1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HNF1B
(0.63)
PCBD1


Citations in the biomedical literature:


17q12 microdeletion syndrome
HNF1B LHX1
Dehydratase deficiency
PCBD1



17q12 microdeletion syndrome
Dehydratase deficiency

Synonym(s):
- Del(17)(q12)
- Monosomy 17q12
Synonym(s):
- Hyperphenylalaninemia due to dehydratase deficiency
- Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
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
External references:
1 OMIM reference -
No MeSH references
17q12 microdeletion syndrome

Very frequent
- Insterstitial / subtelomeric microdeletion / deletion
- Multicystic kidney / renal dysplasia

Frequent
- Diabetes mellitus
- Short stature / dwarfism / nanism

Occasional
- Abnormal hepatic enzymes / transaminases
- Agenesis / hypoplasia / aplasia of kidneys
- Autism / autistic disoders
- Congenital absence / agenesis / aplasia / hypoplasia of the pancreas
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Oligoamnios
- Renal failure
- Seizures / epilepsy / absences / spasms / status epilepticus
- Shawl scrotum
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis


Dehydratase deficiency

(no data available)