SERKAL syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SERKAL SERKAL SYNDROME Sex reversion - kidneys, adrenal and lung dysgenesis |
| Number of Symptoms | 5 |
| OrphanetNr: | 139466 |
| OMIM Id: |
611812
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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: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndrome with 46,XX disorder of sex development
-Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare urogenital disease |
Symptom Information:
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(HPO:0000104) | Renal agenesis | hallmark [HPO] | 68 / 7739 | |||
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(HPO:0012245) | Sex reversal | 13 / 7739 | ||||
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(HPO:0011743) | Adrenal gland agenesis | hallmark [HPO] | 2 / 7739 | |||
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(HPO:0005944) | Bilateral lung agenesis | hallmark [HPO] | 4 / 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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Additional Information:
| Clinical Description OMIM |
Mandel et al. (2008) studied a consanguineous kindred of Arab Muslim origin. The family had been followed since the birth of an infant who died of type 1 citrullinemia (215700) at age 4 days. The parents were second ... |
| Molecular genetics OMIM |
Given the similarities between the findings in these cases and a WNT4 knockout mouse model (Vainio et al., 1999; Heikkila et al., 2005), Mandel et al. (2008) genotyped all available family members for microsatellite markers spanning the WNT4 ... |