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Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Leprechaunism

1 OMIM reference -
1 associated gene
37 signs/symptoms

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Leprechaunism

CBL

(UniProt - OMIM)

INSR

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CBL	(0.62)	INSR

Citations in the biomedical literature:

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia		Leprechaunism
	Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML		Synonym(s): - Donohue syndrome

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin 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: before age 5 Type of inheritance: autosomal recessive

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

Leprechaunism
	Very frequent - Anomalies of ear and hearing - Autosomal recessive inheritance - Diabetes mellitus - Excess nuchal skin without pterygium colli - Facial dysmorphism - Failure to thrive / difficulties for feeding in infancy / growth delay - Flared / thick ala nasi - High vaulted / narrow palate - Hyperinsulinism / hyperinsulinemia - Hypertelorism - Hypoglycemia - Insulin-independent / type 2 diabetes - Intellectual deficit / mental / psychomotor retardation / learning disability - 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
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)