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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
37 signs/symptoms
MODY syndrome
Leprechaunism

ABCC8 INSR
BLK
CEL
GCK
HNF1A
HNF4A
INS
KCNJ11
KLF11
NEUROD1
PAX4
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
INS
(0.62)
INSR



Citations in the biomedical literature:


MODY syndrome
ABCC8 BLK CEL GCK HNF1A HNF4A
INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1

Leprechaunism
INSR



MODY syndrome
Leprechaunism

Synonym(s):
- Maturity-onset diabetes of the young

Synonym(s):
- Donohue syndrome

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
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: before age 5
Type of inheritance: autosomal recessive

External references:
11 OMIM references -
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


MODY syndrome

(no data available)