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Hereditary gingival fibromatosis
4 OMIM references -
1 associated gene
2 signs/symptoms
PROTEIN INTERACTIONS: 1
Hirschsprung disease
9 OMIM references -
7 associated genes
17 signs/symptoms
Hereditary gingival fibromatosis
Hirschsprung disease

SOS1
(UniProt - OMIM)
 ECE1
(UniProt - OMIM)
EDN3
(UniProt - OMIM)
EDNRB
(UniProt - OMIM)
GDNF
(UniProt - OMIM)
L1CAM
(UniProt - OMIM)
NRTN
(UniProt - OMIM)
RET
(UniProt - OMIM)

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


Citations in the biomedical literature:


Hereditary gingival fibromatosis
SOS1
Hirschsprung disease
ECE1 EDN3 EDNRB GDNF L1CAM NRTN
RET



Hereditary gingival fibromatosis
Hirschsprung disease

Synonym(s):
- Autosomal dominant gingival fibromatosis
- Autosomal dominant gingival hyperplasia
- Hereditary gingival hyperplasia
Synonym(s):
- Aganglionic megacolon
- Congenital intestinal aganglionosis
- HSCR
Classification (Orphanet):
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic 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: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references
External references:
9 OMIM references -
1 MeSH reference: D006627
Hereditary gingival fibromatosis
Hirschsprung disease

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



Very frequent
- Acute abdominal pain / colic
- Constipation
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Functional anomalies of the digestive system
- Intestinal obstruction / ileus
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Acute diarrhea
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intestinal perforation
- Polyposis of the bowel / colon / intestine
- Sensorineural deafness / hearing loss
- Sepsis severe / septicemia
- Short stature / dwarfism / nanism
- Thyroid neoplasm / tumor / carcinoma / cancer