CADDS
Synonyms: Contiguous ABCD1 DXS1357E deletion syndrome · Zellweger-like contiguous gene deletion syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CADDS | Contiguous ABCD1 DXS1357E deletion syndrome · Zellweger-like contiguous gene deletion syndrome |
| fr | CADDS | Syndrome de délétion contiguë de ABCD1 DXS1357E · Syndrome de délétion contiguë type Zellweger |
| de | CADDS | ABCD1-DXS1357E-Contiguous gene deletion-Syndrom · Zellweger-ähnliches-Contiguous gene deletion-Syndrom |
| es | CADDS | Síndrome de deleción contigua ABCD1 DXS1357E · Síndrome de deleción de genes contiguos similar a Zellweger |
| it | CADDS | Sindrome da delezione di geni contigui ABCD1 DXS1357E · Sindrome da delezione di geni contigui, tipo Zellweger |
| nl | CADDS | ABCD1-DXS1357E-'contiguous gene'-deletiesyndroom · Zellweger-achtig 'contiguous gene'-deletiesyndroom · Zellweger-achtig syndroom met deletie van aangrenzende genen ABCD1 en DXS1357E |
| pt | CADDS | Síndrome de deleção contígua ABCD1 DXS1357E · Síndrome de deleção contígua Zellweger-like |
| pl | CADDS | Zespół delecji przyległych ABCD1 DXS1357E · Zespół delecji przyległych genów podobny do zespołu Zellwegera |
| cs | CADDS | Zellweger like syndrom sousedící delece · Mikrodeleční syndrom zasahující geny ABCD1 DXS1357E · Syndrom delece sousedního genu podobný jako Zellwegerův syndrom |
| uk | CADDS | Синдром делеції зчепленої ділянки ABCD1 DXS1357E · Синдром делеції зчеплених генів, подібний до синдрому Целлвегера |
| zh | 先天性ABCD1及DXS1357E基因缺失综合征 | Zellweger样连续基因缺失综合征 |
| tr | CADDS | Bitişik ABCD1 DXS1357E delesyon sendromu · Zellweger-ilişkili bitişik gen delesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300475 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 5C57.Y | NTBT | attributed | validated |
| MONDO | 0018247 | E | validated | |
| MeSH | C564508 | E | validated | |
| UMLS | C3806634 | E | validated | |
| GARD | 12472 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:68373Peroxisomal disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCD1 | Role in the phenotype of | Assessed | HGNC:61 | ENSG00000101986 | 300371 | Xq28 | ATP binding cassette subfamily D member 1 | 11992258[PMID]_22994209[PMID] |
| BCAP31 | Role in the phenotype of | Assessed | HGNC:16695 | ENSG00000185825 | 300398 | Xq28 | B cell receptor associated protein 31 | 22994209[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 11992258[PMID]_22994209[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
17 annotations · validated 2022-12-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001396 | Cholestasis | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0030151 | Cholangitis | |
| HP:0033643 | Increased circulating very long-chain fatty acid concentration | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0000835 | Adrenal hypoplasia | |
| HP:0000518 | Cataract | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001332 | Dystonia | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000347 | Micrognathia | |
| HP:0003196 | Short nose | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24597975[PMID]_11992258[PMID]_22994209[PMID]_33603160[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369942
- This record as JSON: /data/d/369942.json