Lethal hemolytic anemia-genital anomalies syndrome
historical
Synonyms: Water-West syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal hemolytic anemia-genital anomalies syndrome | Water-West syndrome |
| fr | Syndrome d'anémie hémolytique létale-anomalies génitales | Syndrome de Waters-West |
| de | Letale hämolytische Anämie-Genitalfehlbildungen-Syndrom | Waters-West-Syndrom |
| es | Síndrome de anemia hemolítica letal-anomalías genitales | |
| it | Sindrome da anemia emolitica letale-anomalie dei genitali | |
| nl | Letale hemolytische anemie - genitale anomalieën-syndroom | Syndroom van Waters-West |
| pt | Síndrome de anemia hemolítica letal-anomalias genitais | |
| pl | Śmiertelna anemia hemolityczna - anomalie narządów płciowych | Zespół Watera i Westa |
| cs | Syndrom zahrnující letální hemolytickou anémii a anomálie genitálu | Watersové-Westové syndrom · Waters-Westové syndrom |
| uk | Синдром летальної гемолітичної анемії-генітальних аномалій | Синдром Вотер-Вест |
| zh | 致死性溶血性贫血-生殖器异常综合征 | Water-West综合征 |
| tr | Letal hemolitik anemi-genital anomaliler sendromu | Water-West sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600461 | E | validated | |
| ICD-10 | D58.8 | NTBT | attributed | validated |
| ICD-11 | 3A10.Y | NTBT | attributed | validated |
| MONDO | 0010891 | E | validated | |
| UMLS | C4304746 | E | validated | |
| GARD | 2642 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:182043Rare constitutional hemolytic anemia
rare genetic diseases; rare hematological diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 7726230[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7726230[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0001903 | Anemia | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001562 | Oligohydramnios | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001852 | Sandal gap | |
| Frequent (79-30%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0001541 | Ascites | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0001561 | Polyhydramnios | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001744 | Splenomegaly | |
| HP:0000233 | Thin vermilion border | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1046
- This record as JSON: /data/d/1046.json