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Hemihypertrophy
1 OMIM reference -
3 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
Congenital atransferrinemia
1 OMIM reference -
1 associated gene
8 signs/symptoms
Hemihypertrophy
Congenital atransferrinemia

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IGF2
(0.75)
TF


Citations in the biomedical literature:


Hemihypertrophy
H19 IGF2 KCNQ1OT1
Congenital atransferrinemia
TF



Hemihypertrophy
Congenital atransferrinemia

Synonym(s):
- Hemi 3 syndrome
- Hemicorporal hypertrophy
- Isolated hemihyperplasia
Synonym(s):
- Congenital hypotransferrinemia
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
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: C538259
Hemihypertrophy
Congenital atransferrinemia

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
- Anaemia
- Autosomal recessive inheritance

Frequent
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Storage liver disease

Occasional
- Arthritis / synovitis / synovial proliferation
- Hypothyroidy
- Structural anomalies of the cardio-circulatory system
- Structural anomalies of the pancreas