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17q12 microdeletion syndrome
1 OMIM reference -
2 associated genes
19 connected diseases
21 signs/symptoms
Disease Type of connection
Classic Mayer-Rokitansky-Küster-Hauser syndrome
MURCS association
Autosomal dominant primary hypomagnesemia with hypocalciuria
Familial prostate cancer
Renal cysts and diabetes syndrome
Melanoma of soft part
Agnathia - holoprosencephaly - situs inversus
Combined pituitary hormone deficiencies, genetic forms
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Syndromic microphthalmia type 5
Hyperinsulinism due to HNF1A deficiency
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
MODY syndrome
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Dehydratase deficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Synonym(s):
- Del(17)(q12)
- Monosomy 17q12
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HNF1B P35680189907
LHX1 P48742601999
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