Dahlberg-Borer-Newcomer syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYPOPARATHYROIDISM-LYMPHEDEMA SYNDROME Lymphedema - hypoparathyroidism syndrome Dahlberg syndrome |
| Number of Symptoms | 29 |
| OrphanetNr: | 1563 |
| OMIM Id: |
247410
|
| ICD-10: |
Q87.8 |
| UMLs: |
C1855477 |
| MeSH: |
C535769 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Syndrome with hypoparathyroidism -Rare endocrine disease -Rare genetic disease Syndromic lymphedema -Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000083) | Renal insufficiency | Occasional [Orphanet] | 232 / 7739 | |||
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(HPO:0000112) | Nephropathy | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000445) | Wide nose | Very frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0000506) | Telecanthus | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000829) | Hypoparathyroidism | Very frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0000821) | Hypothyroidism | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0003102) | Increased carrying angle | 3 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0011362) | Abnormal hair quantity | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0001804) | Hypoplastic fingernail | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001007) | Hirsutism | 91 / 7739 | ||||
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(HPO:0001072) | Thickened skin | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0004554) | Generalized hypertrichosis | 30 / 7739 | ||||
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(HPO:0000998) | Hypertrichosis | 52 / 7739 | ||||
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(HPO:0002230) | Generalized hirsutism | 32 / 7739 | ||||
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(HPO:0001633) | Abnormality of the mitral valve | Very frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0001634) | Mitral valve prolapse | 69 / 7739 | ||||
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(HPO:0002901) | Hypocalcemia | Very frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0001004) | Lymphedema | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0004370) | Abnormality of temperature regulation | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0002091) | Restrictive ventilatory defect | 46 / 7739 | ||||
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(HPO:0006521) | Pulmonary lymphangiectasia | 6 / 7739 | ||||
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(MedDRA:10072883) | Brachydactyly | 153 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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