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Hemihypertrophy
1 OMIM reference -
3 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
Hypoplasminogenemia
1 OMIM reference -
1 associated gene
11 signs/symptoms
Hemihypertrophy
Hypoplasminogenemia

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

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


Citations in the biomedical literature:


Hemihypertrophy
H19 IGF2 KCNQ1OT1
Hypoplasminogenemia
PLG



Hemihypertrophy
Hypoplasminogenemia

Synonym(s):
- Hemi 3 syndrome
- Hemicorporal hypertrophy
- Isolated hemihyperplasia
Synonym(s):
- Plasminogen deficiency type 1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Hemihypertrophy
Hypoplasminogenemia

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
- Anomalies of eyes and vision

Frequent
- Anomalies of tongue, gingiva and oral mucosa

Occasional
- Abnormal / polycystic ovaries
- Anomalies of skin, subcutaneous tissue and mucosae
- Dandy-Walker anomaly
- Hydrocephaly
- Intestinal / colonic anomaly
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Structural anomalies of the respiratory system and diaphragm
- Urinary / renal lithiasis / kidney stones / nephritic colic
- Uterine / uterus / Fallopian tubes anomalies