Kallmann syndrome-heart disease syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kallmann syndrome-heart disease syndrome | |
| fr | Syndrome de Kallmann-cardiopathie | |
| de | Kallmann-Syndrom mit Kardiopathie | |
| es | Síndrome de Kallmann-cardiopatía | |
| it | Sindrome di Kallmann - cardiopatia | |
| nl | Syndroom van Kallmann - hartziekte-syndroom | |
| pt | Síndrome de cardiopatia-síndrome Kallmann | |
| pl | Zespół Kallmanna - choroba serca | |
| cs | Syndrom zahrnující Kallmannův syndrom a onemocnění srdce | |
| uk | Синдром Калмана з серцево-судинним захворюванням | |
| zh | Kallmann综合征-心脏病综合征 | |
| tr | Kallmann sendromu-kalp hastalığı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q24.8 | NTBT | attributed | validated |
| MONDO | 0016515 | E | validated | |
| UMLS | C4302897 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 8322819[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8322819[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
29 annotations · validated 2017-10-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000044 | Hypogonadotropic hypogonadism | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0010632 | Total anosmia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0011638 | Anomalous origin of left coronary artery from the pulmonary artery | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0000175 | Cleft palate | |
| HP:0000961 | Cyanosis | |
| HP:0008734 | Decreased testicular size | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0001719 | Double outlet right ventricle | |
| HP:0001510 | Growth delay | |
| HP:0030148 | Heart murmur | |
| HP:0000054 | Micropenis | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0010633 | Partial anosmia | Diagnostic criterion |
| HP:0004971 | Pulmonary artery hypoplasia | |
| HP:0000104 | Renal agenesis | |
| HP:0012020 | Right aortic arch | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000200 | Short lingual frenulum | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001659 | Aortic regurgitation | |
| HP:0001635 | Congestive heart failure | |
| HP:0005211 | Midgut malrotation | |
| HP:0001653 | Mitral regurgitation | |
| HP:0010444 | Pulmonary insufficiency | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 8322819[PMID]_1423001[PMID]_21378379[PMID]_25077900[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2326
- This record as JSON: /data/d/2326.json