ORPHA:2189
Hydrolethalus
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydrolethalus | |
| fr | Hydrolethalus | |
| de | Hydroletalus | |
| es | Síndrome hydrolethalus | Síndrome hidroletal |
| it | Idroletale | |
| nl | Hydrolethalus | |
| pt | Hidroletal | |
| pl | Zespół Hydrolethalus | |
| cs | Hydroletální syndrom | |
| uk | Гідролеталіс | |
| zh | 水中毒 | |
| tr | Hidroletalus |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236680 | BTNT | validated | |
| OMIM | 614120 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0006037 | E | validated | |
| MeSH | C536079 | E | validated | |
| UMLS | C2931104 | E | validated | |
| GARD | 6683 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:363250Ciliopathy
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HYLS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26558 | ENSG00000198331 | 610693 | 11q24.2 | HYLS1 centriolar and ciliogenesis associated | 15843405[PMID]_18648327[PMID] |
| KIF7 | Disease-causing germline mutation(s) in | Assessed | HGNC:30497 | ENSG00000166813 | 611254 | 15q26.1 | kinesin family member 7 | 21552264[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Finland | Value and class | Validated | 11152149[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Finland | Class only | Not yet validated | 11152149[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2017-07-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000238 | Hydrocephalus | |
| HP:0000347 | Micrognathia | |
| HP:0001561 | Polyhydramnios | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0001622 | Premature birth | |
| HP:0000278 | Retrognathia | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0004408 | Abnormality of the sense of smell | |
| HP:0000193 | Bifid uvula | |
| HP:0000175 | Cleft palate | |
| HP:0000490 | Deeply set eye | |
| HP:0030690 | Gingival cleft | |
| HP:0001601 | Laryngomalacia | |
| HP:0000369 | Low-set ears | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0100682 | Tracheal atresia | |
| HP:0100333 | Unilateral cleft lip | |
| Occasional (29-5%) | ||
| HP:0011027 | Abnormality of the fallopian tube | |
| HP:0002323 | Anencephaly | |
| HP:0000528 | Anophthalmia | |
| HP:0002139 | Arrhinencephaly | |
| HP:0000028 | Cryptorchidism | |
| HP:0002983 | Micromelia | |
| HP:0000568 | Microphthalmia | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2189
- This record as JSON: /data/d/2189.json