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Leprechaunism
1 OMIM reference -
1 associated gene
37 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
Opsismodysplasia
1 OMIM reference -
1 associated gene
27 signs/symptoms
Leprechaunism
Opsismodysplasia

INSR
(UniProt - OMIM)
 INPPL1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
INSR
(0.82)
INPPL1


Citations in the biomedical literature:


Leprechaunism
INSR
Opsismodysplasia
INPPL1



Leprechaunism
Opsismodysplasia

Synonym(s):
- Donohue syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537122
COMMON
SIGNS 		- Autosomal recessive inheritance
- Delayed bone age
- Depressed nasal bridge
- Repeat respiratory infections
- Short stature / dwarfism / nanism

Leprechaunism
Opsismodysplasia

Very frequent
- Anomalies of ear and hearing
- 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
- Thick lips
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy

Frequent
- 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
- Abnormal vertebral size / shape
- Epiphyseal anomaly
- Frontal bossing / prominent forehead
- Lack / delayed ossification of spine / vertebrae
- Large fontanelle / delayed fontanelle closure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rhizomelic micromelia
- Short hand / brachydactyly
- Short / small nose
- Tapered fingers

Frequent
- Brachycephaly / flat occiput
- Hypotonia

Occasional
- Blue sclerae
- Broad / bifid thumb
- Hepatomegaly / liver enlargement (excluding storage disease)
- Narrow rib cage / thorax
- Pectus excavatum
- Restricted joint mobility / joint stiffness / ankylosis
- Splenomegaly