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Hemihypertrophy
1 OMIM reference -
3 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
Insulin-resistance syndrome type A
1 OMIM reference -
1 associated gene
9 signs/symptoms
Hemihypertrophy
Insulin-resistance syndrome type A

H19
(OMIM)
 INSR
(UniProt - OMIM)
IGF2
(UniProt - OMIM)
KCNQ1OT1
(OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IGF2
(0.52)
INSR


Citations in the biomedical literature:


Hemihypertrophy
H19 IGF2 KCNQ1OT1
Insulin-resistance syndrome type A
INSR



Hemihypertrophy
Insulin-resistance syndrome type A

Synonym(s):
- Hemi 3 syndrome
- Hemicorporal hypertrophy
- Isolated hemihyperplasia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Hemihypertrophy
Insulin-resistance syndrome type A

Very frequent
- Asymmetric rib cage / thorax
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Scoliosis

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Intellectual deficit / mental / psychomotor retardation / learning disability

Occasional
- Areflexia / hyporeflexia
- Bladder and ureter anomalies
- Congenital cardiac anomaly / malformation / cardiopathy
- Inguinal / inguinoscrotal / crural hernia
- Insensitivity to pain
- Myelomeningocele
- Nephroblastoma / Wilms tumor
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Very frequent
- Advanced bone age
- Autosomal recessive inheritance
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Hirsutism / hypertrichosis / Increased body hair
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Insulin-independent / type 2 diabetes
- Late puberty / hypogonadism / hypogenitalism
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Tall stature / gigantism / growth acceleration