CPE-related Prader-Willi-like syndrome
Synonyms: BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare Prader-Willi-like syndrome characterized by intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CPE-related Prader-Willi-like syndrome | BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome |
| fr | Syndrome de Prader-Willi-like associé à CPE | Syndrome de BDV · Syndrome de Blakemore-Durmaz-Vasileiou |
| de | CPE-assoziiertes Prader-Willi-ähnliches-Syndrom | BDV-Syndrom · Blakemore-Durmaz-Vasileiou-Syndrom |
| es | Síndrome similar a Prader-Willi asociado a CPE | Síndrome BDV · Síndrome de Blakemore-Durmaz-Vasileiou |
| it | Sindrome simil-Prader-Willi correlata a CPE | Sindrome BDV · Sindrome di Blakemore-Durmaz-Vasileiou |
| nl | CPE-gerelateerd Prader-Willi-achtig syndroom | BDV-syndroom · Syndroom van Blakemore-Durmaz-Vasileiou |
| pt | Síndrome Prader-Willi-like CPE-relacionado | Síndrome BDV · Síndrome Blakemore-Durmaz-Vasileiou |
| pl | Związany z CPE zespół podobny do zespołu Pradera-Willego | = en |
| cs | Syndrom související s CPE podobný Praderovu-Williho syndromu | = en |
| uk | Синдром Прадера-Віллі, повязаний з CPE | BDV-синдром · Синдром Блейкмора-Дурмаза-Василевса |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619326 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0859001 | E | validated | |
| MONDO | 859001 | E | validated | |
| MONDO | 859150 | E | validated | |
| UMLS | C5543403 | 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 (1):
- ORPHA:398073Prader-Willi-like syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CPE | Disease-causing germline mutation(s) in | Assessed | HGNC:2303 | ENSG00000109472 | 114855 | 4q32.3 | carboxypeptidase E | 34383079[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 26120850[PMID]_32936766[PMID]_34383079[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 26120850[PMID]_32936766[PMID]_34383079[PMID]_ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/633028
- This record as JSON: /data/d/633028.json