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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
24 signs/symptoms
Oligodontia - cancer predisposition syndrome
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis

AXIN2 ACSL4
AMMECR1
KCNE1L


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AXIN2
(0.16)
AMMECR1



Citations in the biomedical literature:


Oligodontia - cancer predisposition syndrome
AXIN2
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
ACSL4 AMMECR1 KCNE1L



Oligodontia - cancer predisposition syndrome
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis

Synonym(s):
- Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome

Synonym(s):
- AMME complex
- AMME syndrome
- ATS-MR

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: x-linked recessive

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

Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis

Very frequent
- Anteverted nares / nostrils
- Depressed nasal bridge
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hair and scalp anomalies
- Hematuria / microhematuria
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mid-facial hypoplasia / short / small midface
- Proteinuria
- Renal glomerular defect / glomerulopathy
- X-linked dominant inheritance

Frequent
- Hearing loss / hypoacusia / deafness
- Hypotonia
- Red cell structure / shape anomalies
- Renal failure
- Tapered fingers
- Thick lips
- Thin / retracted lips

Occasional
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Metaphyseal anomaly
- Myopia
- Patent ductus arteriosus
- Strabismus / squint
- Supernumerary teeth / polyodontia


Oligodontia - cancer predisposition syndrome

(no data available)