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4 OMIM references -
1 associated gene
2 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
18 signs/symptoms
Hereditary gingival fibromatosis
Bilateral renal agenesis

SOS1 ITGA8
RET
UPK3A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SOS1
(0.63)
RET



Citations in the biomedical literature:


Hereditary gingival fibromatosis
SOS1
Bilateral renal agenesis
ITGA8 RET UPK3A



Hereditary gingival fibromatosis
Bilateral renal agenesis

Synonym(s):
- Autosomal dominant gingival fibromatosis
- Autosomal dominant gingival hyperplasia
- Hereditary gingival hyperplasia

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536482

Hereditary gingival fibromatosis
Bilateral renal agenesis

Very frequent
- Autosomal dominant inheritance
- Thickened / hypertrophic / fibromatous gingivae



Very frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Epicanthic folds
- Hypertelorism
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Low set ears / posteriorly rotated ears
- Oligoamnios
- Short columella / depressed nasal tip
- Stillbirth / neonatal death

Frequent
- Congenital cardiac anomaly / malformation / cardiopathy
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intestinal / colonic anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Sacro-coccyx / sacrum anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Sirenomelia / mermaid / lower limb fusion
- Uterine / uterus / Fallopian tubes anomalies