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Leprechaunism
1 OMIM reference -
1 associated gene
37 signs/symptoms
PROTEIN INTERACTIONS: 1
Myelofibrosis with myeloid metaplasia
1 OMIM reference -
4 associated genes
No signs/symptoms info
Leprechaunism
Myelofibrosis with myeloid metaplasia

INSR
(UniProt - OMIM)
 CALR
(UniProt - OMIM)
JAK2
(UniProt - OMIM)
MPL
(UniProt - OMIM)
TET2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
INSR
(0.83)
JAK2


Citations in the biomedical literature:


Leprechaunism
INSR
Myelofibrosis with myeloid metaplasia
CALR JAK2 MPL TET2



Leprechaunism
Myelofibrosis with myeloid metaplasia

Synonym(s):
- Donohue syndrome
Synonym(s):
- Agnogenic myeloid metaplasia
- Idiopathic myelofibrosis
- Myelosclerosis with myeloid metaplasia
- Primary myelofibrosis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -
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:
(no data available)
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


Myelofibrosis with myeloid metaplasia

(no data available)