ODCs

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Leprechaunism

1 OMIM reference -
1 associated gene
37 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Proximal 16p11.2 microdeletion syndrome

1 OMIM reference -
1 associated gene
31 signs/symptoms

Leprechaunism

Proximal 16p11.2 microdeletion syndrome

INSR

(UniProt - OMIM)

SH2B1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	INSR	(0.9)	SH2B1

Citations in the biomedical literature:

Leprechaunism		Proximal 16p11.2 microdeletion syndrome
	Synonym(s): - Donohue syndrome		Synonym(s): - Proximal del(16)(p11.2) - Proximal monosomy 16p11.2

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Failure to thrive / difficulties for feeding in infancy / growth delay - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability

Leprechaunism		Proximal 16p11.2 microdeletion syndrome
	Very frequent - Anomalies of ear and hearing - Autosomal recessive inheritance - Diabetes mellitus - Excess nuchal skin without pterygium colli - Facial dysmorphism - Flared / thick ala nasi - High vaulted / narrow palate - Hyperinsulinism / hyperinsulinemia - Hypoglycemia - Insulin-independent / type 2 diabetes - Intrauterine growth retardation - Long / large ear - Low set ears / posteriorly rotated ears - Macropenis / megapenis / large penis - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Proptosis / exophthalmos - Repeat respiratory infections - Short stature / dwarfism / nanism - Thick lips - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy Frequent - Delayed bone age - Depressed nasal bridge - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Female pseudohermaphrodism / virilisation / clitoridomegaly - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hepatitis / icterus / cholestasis - Hirsutism / hypertrichosis / Increased body hair - Immunodeficiency / increased susceptibility to infections / recurrent infections - Inguinal / inguinoscrotal / crural hernia - Lipoatrophy - Umbilical hernia Occasional - Absent / hypotonic / flaccid abdominal wall muscles - Microcephaly - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Autism / autistic disoders - Broad forehead - EEG anomalies - Macrocephaly / macrocrania / megalocephaly / megacephaly - Mid-facial hypoplasia / short / small midface - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Coloboma of the optic nerve - Diaphragmatic hernia / defect / agenesis - Dilated cerebral ventricles without hydrocephaly - Gastric / pyloric stenosis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Generalized obesity - Hyperactivity / attention deficit - Hypotonia - Micrognathia / retrognathia / micrognathism / retrognathism - Myopia - Psychosis / schizophrenia / maniac disorder - Scoliosis - Strabismus / squint - Syringomelia - Upper limb polydactyly / hexadactyly - Vertebral segmentation anomaly / hemivertebrae