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CADDS
1 OMIM reference -
2 associated genes
36 connected diseases
No signs/symptoms info
Disease Type of connection
Adrenomyeloneuropathy
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
X-linked cerebral adrenoleukodystrophy
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Chorioretinopathy, Birdshot type
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Baraitser-Winter syndrome
Follicular lymphoma
Intravascular large B-cell lymphoma
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
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Huntington disease
Juvenile Huntington disease
Combined deficiency of factor V and factor VIII
B-cell chronic lymphocytic leukemia
Congenital alpha2 antiplasmin deficiency
Familial isolated congenital asplenia
Hereditary combined deficiency of vitamin K-dependent clotting factors
Autosomal dominant spastic ataxia 1
Isolated cytochrome C oxidase deficiency
MELAS syndrome
Maternally-inherited Leigh syndrome
Rhizomelic chondrodysplasia punctata type 3
Synonym(s):
- Contiguous ABCD1 DXS1357E deletion syndrome
- Zellweger-like contiguous gene deletion syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
ABCD1 P33897300371
BCAP31 P51572300398
No signs/symptoms info available.