Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Feigenbaum-Bergeron-Richardson syndrome |
| Number of Symptoms | 56 |
| OrphanetNr: | 1192 |
| OMIM Id: |
209010
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| ICD-10: |
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| 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: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Epileptic syndrome
-Rare genetic disease -Rare neurologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0008689) | Bilateral cryptorchidism | Frequent [Orphanet] typical [HPO] | 38 / 7739 | |||
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(HPO:0000028) | Cryptorchidism | Frequent [Orphanet] | 347 / 7739 | |||
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(HPO:0001920) | Renal artery stenosis | 5 / 7739 | ||||
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(HPO:0000112) | Nephropathy | Frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000093) | Proteinuria | Frequent [Orphanet] | 169 / 7739 | |||
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(HPO:0000100) | Nephrotic syndrome | Frequent [Orphanet] | 83 / 7739 | |||
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(HPO:0012646) | Retractile testis | Frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0008527) | Congenital sensorineural hearing impairment | Very frequent [Orphanet] hallmark [HPO] | 165 / 7739 | |||
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(HPO:0008625) | Severe sensorineural hearing impairment | Very frequent [Orphanet] hallmark [HPO] | 150 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0001288) | Gait disturbance | Frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001257) | Spasticity | Frequent [Orphanet] | 251 / 7739 | |||
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(HPO:0002121) | Absence seizures | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0002063) | Rigidity | Frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000726) | Dementia | Very frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0001268) | Mental deterioration | Very frequent [Orphanet] hallmark [HPO] | 88 / 7739 | |||
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(HPO:0001276) | Hypertonia | Frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0011147) | Typical absence seizures | Very frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0001337) | Tremor | Frequent [Orphanet] | 200 / 7739 | |||
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(HPO:0002361) | Psychomotor deterioration | Very frequent [Orphanet] hallmark [HPO] | 26 / 7739 | |||
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(HPO:0011097) | Epileptic spasms | Very frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0002376) | Developmental regression | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0001327) | Photomyoclonic seizures | 125 / 7739 | ||||
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(HPO:0002133) | Status epilepticus | Very frequent [Orphanet] | 59 / 7739 | |||
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(HPO:0100651) | Type I diabetes mellitus | Very frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0000819) | Diabetes mellitus | 131 / 7739 | ||||
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(HPO:0001376) | Limitation of joint mobility | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0003307) | Hyperlordosis | Frequent [Orphanet] | 122 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0002938) | Lumbar hyperlordosis | Frequent [Orphanet] typical [HPO] | 73 / 7739 | |||
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(HPO:0003510) | Severe short stature | Very frequent [Orphanet] | 90 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0007201) | Cerebral artery atherosclerosis | 1 / 7739 | ||||
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(HPO:0100545) | Arterial stenosis | Frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0011572) | Supramitral ring | Frequent [Orphanet] | 3 / 7739 | |||
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(HPO:0001634) | Mitral valve prolapse | Frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0001653) | Mitral regurgitation | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0005177) | Premature arteriosclerosis | Very frequent [Orphanet] | 7 / 7739 | |||
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(HPO:0004416) | Precocious atherosclerosis | Very frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0004929) | Coronary atherosclerosis | 4 / 7739 | ||||
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(HPO:0000822) | Hypertension | Frequent [Orphanet] | 224 / 7739 | |||
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(HPO:0002621) | Atherosclerosis | Very frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0001633) | Abnormality of the mitral valve | Frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0001903) | Anemia | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0003287) | Abnormality of mitochondrial metabolism | Very frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0002120) | Cerebral cortical atrophy | Frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0001320) | Cerebellar vermis hypoplasia | Frequent [Orphanet] typical [HPO] | 57 / 7739 | |||
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(HPO:0006817) | Aplasia/Hypoplasia of the cerebellar vermis | Frequent [Orphanet] typical [HPO] | 15 / 7739 | |||
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(HPO:0001317) | Abnormality of the cerebellum | 36 / 7739 | ||||
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(OMIM) | Cognitive function loss | 1 / 7739 | ||||
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(HPO:0100308) | Cerebral cortical hemiatrophy | Frequent [Orphanet] | 7 / 7739 | |||
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(OMIM) | Aortic and coronary atherosclerosis | 1 / 7739 | ||||
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(HPO:0002335) | Agenesis of cerebellar vermis | Frequent [Orphanet] typical [HPO] | 25 / 7739 | |||
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(HPO:0007360) | Aplasia/Hypoplasia of the cerebellum | Frequent [Orphanet] | 10 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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