Lethal hemolytic anemia - genital anomalies
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Water-West syndrome |
| Number of Symptoms | 31 |
| OrphanetNr: | 1046 |
| OMIM Id: |
600461
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| ICD-10: |
D58.8 |
| 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: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare constitutional hemolytic anemia
-Rare genetic disease -Rare hematologic disease Syndromic urogenital tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare urogenital disease |
Symptom Information:
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(HPO:0008678) | Renal hypoplasia/aplasia | Frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000079) | Abnormality of the urinary system | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0000069) | Abnormality of the ureter | Very frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0000047) | Hypospadias | Frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0000811) | Abnormal external genitalia | 6 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0000457) | Depressed nasal ridge | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000929) | Abnormality of the skull | Very frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0005469) | Flat occiput | 30 / 7739 | ||||
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(HPO:0000233) | Thin vermilion border | Frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0000363) | Abnormality of earlobe | 4 / 7739 | ||||
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(HPO:0001852) | Sandal gap | Very frequent [Orphanet] | 63 / 7739 | |||
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(HPO:0001562) | Oligohydramnios | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0001561) | Polyhydramnios | Frequent [Orphanet] | 191 / 7739 | |||
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(HPO:0001541) | Ascites | Frequent [Orphanet] | 94 / 7739 | |||
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(HPO:0001433) | Hepatosplenomegaly | 78 / 7739 | ||||
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(HPO:0001744) | Splenomegaly | Frequent [Orphanet] | 337 / 7739 | |||
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(HPO:0001869) | Deep plantar creases | 14 / 7739 | ||||
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(HPO:0001878) | Hemolytic anemia | 83 / 7739 | ||||
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(HPO:0001928) | Abnormality of coagulation | Frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0001903) | Anemia | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(OMIM) | Abdomen. Ascites | 1 / 7739 | ||||
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(OMIM) | Lethal congenital nonspherocytic, nonimmune hemolytic anemia | 1 / 7739 | ||||
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(OMIM) | Dimpled earlobes | 1 / 7739 | ||||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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