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Hyperinsulinism due to HNF1A deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Baraitser-Winter syndrome
2 OMIM references -
2 associated genes
44 signs/symptoms
Hyperinsulinism due to HNF1A deficiency
Baraitser-Winter syndrome

HNF1A
(UniProt - OMIM)
 ACTB
(UniProt - OMIM)
ACTG1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HNF1A
(0.63)
ACTB


Citations in the biomedical literature:


Hyperinsulinism due to HNF1A deficiency
HNF1A
Baraitser-Winter syndrome
ACTB ACTG1



Hyperinsulinism due to HNF1A deficiency
Baraitser-Winter syndrome

Synonym(s):
- Hyperinsulinemic hypoglycemia due to HNF1A deficiency
Synonym(s):
- Cerebrofrontofacial syndrome type 3
- Iris coloboma-ptosis-intellectual deficit syndrome
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references
Baraitser-Winter syndrome

Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Autosomal recessive inheritance
- Broad cheeks / cherub-like / cherubin face
- Broad nose / nasal bridge
- Coarse face
- Coloboma of iris
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epicanthic folds
- Euryblepharon / wide palpebral fissures
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High arched eyebrows
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Macrostomia / big mouth
- Micrognathia / retrognathia / micrognathism / retrognathism
- Pointed chin
- Prominent metopic suture
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short columella / depressed nasal tip
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Telecanthus / canthal dystopy
- Thin / retracted lips

Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Heterochromia / mixed colouring of iris
- Large fontanelle / delayed fontanelle closure
- Long / large / bulbous nose
- Low hair line (back)
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Restricted joint mobility / joint stiffness / ankylosis
- Retinoschisis / retinal / chorioretinal coloboma
- Short neck
- Trigonocephaly

Occasional
- Coloboma of the optic nerve
- Microcornea
- Puffy eyelids
- Scoliosis
- Thumb duplication / distal bifid thumb phalangeal bone
- Transient cerebral ischemia / stroke
- Webbed neck / pterygium colli


Hyperinsulinism due to HNF1A deficiency

(no data available)