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Lethal arteriopathy syndrome due to FBLN4 deficiency
1 associated gene
37 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive cutis laxa type 1
Autosomal dominant cutis laxa
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Hereditary sensorimotor neuropathy with hyperelastic skin
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Supravalvular aortic stenosis
Weill-Marchesani syndrome
Williams syndrome
CATSPER1-related non syndromic male infertility
Alternating hemiplegia of childhood
Benign paroxysmal torticollis of infancy
Dentatorubral pallidoluysian atrophy
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Gray platelet syndrome
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
EFEMP2 O95967604633
No signs/symptoms info available.