Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Synonyms: Cardiogenital syndrome · Malouf syndrome · Najjar syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism. Additional features, which vary between patients, may include facial dysmorphism (including prominent nasal bone, beaked nose, micrognathia and ptosis), intellectual disability, progeroid appearance, skeletal abnormalities (such as scoliosis or osteoporosis), collagenoma, and metabolic abnormalities including lipodystrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | Cardiogenital syndrome · Malouf syndrome · Najjar syndrome |
| fr | Syndrome de cardiomyopathie dilatée-hypogonadisme hypergonadotrope | Syndrome cardiogénital · Syndrome de Malouf · Syndrome de Najjar |
| de | Dilatative Kardiomyopathie-hypergonadotroper Hypogonadismus-Syndrom | Kardiogenitales Syndrom · Malouf-Syndrom · Najjar-Syndrom |
| es | Síndrome de miocardiopatía dilatada-hipogonadismo hipergonadotrópico | Síndrome cardiogenital · Síndrome de Najjar |
| it | Cardiomiopatia dilatativa - ipogonadismo ipergonadotropo | Sindrome cardiogenitale · Sindrome di Malouf · Sindrome di Najjar |
| nl | Gedilateerde cardiomyopathie - hypergonadotroop hypogonadisme-syndroom | Cardiogenitaal syndroom · Syndroom van Malouf · Syndroom van Najjar |
| pt | Síndrome de miocardiopatia dilatada-hipogonadismo hipergonadotrópico | Síndrome Malouf · Síndrome Najjar · Síndrome cardiogenital |
| pl | Kardiomiopatia rozstrzeniowa - hipogonadyzm hipergonadotropowy | Zespół Malouf · Zespół Najjar · Zespół sercowo-płciowy |
| cs | Syndrom zahrnující dilatovanou kardiomyopatii a hypergonadotropní hypogonadismus | Kardiogenitální syndrom · Maloufův syndrom · Najjarův syndrom |
| uk | Синдром дилатаційної кардіоміопатії-гіпергонадотропного гіпогонадизму | Кардіогенітальний синдром · Синдром Малуфа · Синдром Наджара |
| zh | 扩张型心肌病-高促性腺激素性性腺功能减退综合征 | 心-生殖器综合征 |
| tr | Dilate kardiyomiyopati-hipergonadotropik hipogonadizm sendromu | Malouf sendromu · Najjar sendromu · Kardiyogenital sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212112 | E | validated | |
| ICD-10 | I42.0 | NTBT | attributed | validated |
| ICD-11 | BC43.0 | NTBT | attributed | validated |
| MONDO | 0008915 | E | validated | |
| MeSH | C535580 | E | validated | |
| UMLS | C0796083 | E | validated | |
| GARD | 3373 | 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 (3):
- ORPHA:300755Laminopathy with striated muscle involvement
rare genetic diseases - ORPHA:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders - ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNA | Disease-causing germline mutation(s) in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 19283854[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100362 | Aplasia of the phalanges of the 3rd toe | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000147 | Polycystic ovaries | |
| HP:0000826 | Precocious puberty | |
| HP:0000508 | Ptosis | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2229
- This record as JSON: /data/d/2229.json