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

PLG H19
IGF2
KCNQ1OT1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hypoplasminogenemia
PLG
Hemihypertrophy
H19 IGF2 KCNQ1OT1



Hypoplasminogenemia
Hemihypertrophy

Synonym(s):
- Plasminogen deficiency type 1

Synonym(s):
- Hemi 3 syndrome
- Hemicorporal hypertrophy
- Isolated hemihyperplasia

Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Hypoplasminogenemia
Hemihypertrophy

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


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