Kallmann syndrome - heart disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 18 |
| OrphanetNr: | 2326 |
| OMIM Id: |
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| ICD-10: |
E23.0 Q24.9 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 8 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit -Rare developmental defect during embryogenesis Syndrome with hypogonadotropic hypogonadism -Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease |
Symptom Information:
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(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Occasional [Orphanet] | 127 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0004408) | Abnormality of the sense of smell | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0010285) | Oral synechia | Frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0004414) | Abnormality of the pulmonary artery | Frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Very frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | Frequent [Orphanet] | 316 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Frequent [Orphanet] | 274 / 7739 | |||
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(HPO:0012303) | Abnormality of the aortic arch | Frequent [Orphanet] | 57 / 7739 | |||
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(HPO:0001669) | Transposition of the great arteries | Frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0001943) | Hypoglycemia | Frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0040075) | Hypopituitarism | Very frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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