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17q12 microdeletion syndrome
1 OMIM reference -
2 associated genes
21 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 7
Renal cysts and diabetes syndrome
1 OMIM reference -
1 associated gene
26 signs/symptoms
17q12 microdeletion syndrome
Renal cysts and diabetes syndrome

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

COMMON
GENES 		HNF1B


Citations in the biomedical literature:


17q12 microdeletion syndrome
HNF1B LHX1
Renal cysts and diabetes syndrome



17q12 microdeletion syndrome
Renal cysts and diabetes syndrome

Synonym(s):
- Del(17)(q12)
- Monosomy 17q12
Synonym(s):
- MODY5
- RCAD syndrome
- Renal cysts - maturity-onset diabetes of the young
- Renal dysfunction - early-onset diabetes
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Abnormal hepatic enzymes / transaminases
- Agenesis / hypoplasia / aplasia of kidneys
- Congenital absence / agenesis / aplasia / hypoplasia of the pancreas
- Diabetes mellitus
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Multicystic kidney / renal dysplasia

17q12 microdeletion syndrome
Renal cysts and diabetes syndrome

Very frequent
- Insterstitial / subtelomeric microdeletion / deletion

Frequent
- Short stature / dwarfism / nanism

Occasional
- Autism / autistic disoders
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- 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


Very frequent
- Renal disease / nephropathy

Frequent
- Autosomal dominant inheritance

Occasional
- Anomaly of pancreatic hormones
- Arthritis / synovitis / synovial proliferation
- Ectopic / horseshoe / fused kidneys
- Gastric / pyloric stenosis
- Hepatitis / icterus / cholestasis
- Hyperextensible joints / articular hyperlaxity
- Hyperuricemia
- Hypospadias / epispadias / bent penis
- Hypothyroidy
- Liver / hepatic steatosis
- Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication
- Pancreatic failure / exocrine pancreas disease
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Prognathism / prognathia
- Spermatocele / epididymal / funicular / spermatic / vaginal / albugineal cyst
- Thirst
- Uterine / uterus / Fallopian tubes anomalies