Triple A syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
3A syndrome Achalasia - addisonianism - alacrima syndrome 4A syndrome 2A syndrome Quaternary A syndrome Double A syndrome AAA syndrome Allgrove syndrome Adrenal insufficiency - achalasia - alacrima |
| Number of Symptoms | 37 |
| OrphanetNr: | 869 |
| OMIM Id: |
231550
615510 |
| ICD-10: |
E27.4 |
| 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: | < 100 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital alacrima
-Rare eye disease -Rare genetic disease Genetic chronic primary adrenal insufficiency -Rare endocrine disease -Rare genetic disease Genetic syndromic esophageal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Rare hereditary disease with peripheral neuropathy -Rare genetic disease -Rare neurologic disease Syndromic esophageal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000252) | Microcephaly | Occasional [Orphanet] | 832 / 7739 | |||
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(HPO:0000612) | Iris coloboma | Occasional [Orphanet] | 116 / 7739 | |||
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(HPO:0000522) | Alacrima | 14 / 7739 | ||||
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(HPO:0009916) | Anisocoria | 11 / 7739 | ||||
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(HPO:0000649) | Abnormality of visual evoked potentials | 34 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0000505) | Visual impairment | Frequent [Orphanet] | 297 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Occasional [Orphanet] | 524 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002459) | Dysautonomia | 34 / 7739 | ||||
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(HPO:0001278) | Orthostatic hypotension | 24 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | Occasional [Orphanet] | 363 / 7739 | |||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | Occasional [Orphanet] | 327 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0100543) | Cognitive impairment | Occasional [Orphanet] | 230 / 7739 | |||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0007002) | Motor axonal neuropathy | 17 / 7739 | ||||
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(HPO:0004319) | Hypoaldosteronism | 9 / 7739 | ||||
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(HPO:0008207) | Primary adrenal insufficiency | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0008220) | Hypocortisolemia | 6 / 7739 | ||||
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(HPO:0008259) | Adrenocorticotropin receptor defect | 2 / 7739 | ||||
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(HPO:0000972) | Palmoplantar hyperkeratosis | 41 / 7739 | ||||
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(HPO:0002571) | Achalasia | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000953) | Hyperpigmentation of the skin | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Occasional [Orphanet] | 410 / 7739 | |||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | Occasional [Orphanet] | 990 / 7739 | |||
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(HPO:0003676) | Progressive disorder | 148 / 7739 | ||||
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(HPO:0012795) | Abnormality of the optic disc | Occasional [Orphanet] | 187 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0011463) | Childhood onset | 65 / 7739 | ||||
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(HPO:0040075) | Hypopituitarism | Occasional [Orphanet] | 32 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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