CADDS

General Information (adopted from Orphanet):

Synonyms, Signs: DDCH CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED
CADDS, INCLUDED
Zellweger-like contiguous gene deletion syndrome
Contiguous ABCD1 DXS1357E deletion syndrome
Number of Symptoms 17
OrphanetNr: 369942
OMIM Id: 300475
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Developmental anomaly of metabolic origin
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Leukodystrophy
 -Rare genetic disease
 -Rare neurologic disease
Metabolic liver disease
 -Rare genetic disease
 -Rare hepatic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Peroxisomal disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001999) Abnormal facial shape 169 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000648) Optic atrophy 238 / 7739
4
 (HPO:0000486) Strabismus 576 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
 (HPO:0010864) Intellectual disability, severe 120 / 7739
7
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0002445) Tetraplegia 26 / 7739
10
 (HPO:0001332) Dystonia 197 / 7739
11
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
12
 (HPO:0001263) Global developmental delay 853 / 7739
13
 (HPO:0001508) Failure to thrive 454 / 7739
14
 (HPO:0001272) Cerebellar atrophy 197 / 7739
15
 (HPO:0003429) CNS hypomyelination 21 / 7739
16
 (HPO:0002059) Cerebral atrophy 171 / 7739
17
 (OMIM) Abnormal liver enzymes during illness 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Deafness, dystonia, and cerebral hypomyelination is an X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging (summary by Cacciagli et al., 2013).
Clinical Description OMIM Cacciagli et al. (2013) reported 7 males from 3 unrelated families with severe syndromic X-linked mental retardation apparent at birth or in the first years of life and almost no apparent motor or cognitive development. The oldest patients ...
Molecular genetics OMIM In 7 affected males from 3 unrelated families with an X-linked mental retardation syndrome characterized by deafness, dystonia, and central hypomyelination, Cacciagli et al. (2013) identified 3 different hemizygous mutations in the BCAP31 gene (300398.0001-300398.0003). All mutations caused ...