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Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
1 OMIM reference -
3 associated genes
23 connected diseases
24 signs/symptoms
Disease Type of connection
X-linked non-syndromic intellectual deficit
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Autosomal recessive spastic paraplegia type 20
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Ehlers-Danlos syndrome, musculocontractural type
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Young adult-onset Parkinsonism
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Oligodontia
Oligodontia - cancer predisposition syndrome
Synonym(s):
- AMME complex
- AMME syndrome
- ATS-MR
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
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: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ACSL4 O60488300157
AMMECR1 Q9Y4X0300195
KCNE1L Q9UJ90300328
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