ORPHA:168593
Sudden infant death-dysgenesis of the testes syndrome
Synonyms: SIDDT
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sudden infant death-dysgenesis of the testes syndrome | SIDDT |
| fr | Syndrome de mort subite du nourrisson-dysgénésie des testicules | = en |
| de | Plötzlicher Kindstod mit Hodendysgenesie | = en |
| es | Síndrome de muerte infantil súbita-disgenesia de los testículos | Síndrome de SIDDT |
| it | Morte improvvisa del neonato - disgenesia dei testicoli | = en |
| nl | Wiegendood - dysgenesie van testes-syndroom | = en |
| pt | Síndrome da morte súbita infantil e disgenesia testicular | |
| pl | Nagła śmierć niemowląt - dysgenezja jąder | = en |
| cs | Syndrom zahrnující náhlou smrt dítěte a dysgenezi varlat | = en |
| uk | Синдром раптової дитячої смерті-дисгенезії яєчок | = en |
| zh | 婴儿猝死伴睾丸发育不良综合征 | = en |
| tr | Testis sendromunun disgenezi-ani bebek ölümü | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608800 | E | validated | |
| ICD-10 | G90.8 | NTBT | attributed | validated |
| ICD-11 | MH11.Z | NTBT | index | validated |
| MONDO | 0012124 | E | validated | |
| MeSH | C563856 | E | validated | |
| UMLS | C1837371 | E | validated | |
| GARD | 12382 | 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 (3):
- ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSPYL1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12382 | ENSG00000189241 | 604714 | 6q22.1 | TSPY like 1 | 15273283[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 15273283[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15273283[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.
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HPO phenotypes
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0011675 | Arrhythmia | |
| HP:0001695 | Cardiac arrest | |
| HP:0000028 | Cryptorchidism | |
| HP:0001522 | Death in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0002045 | Hypothermia | |
| HP:0010535 | Sleep apnea | |
| HP:0000046 | Small scrotum | |
| Frequent (79-30%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0001510 | Growth delay | |
| HP:0001265 | Hyporeflexia | |
| HP:0001336 | Myoclonus | |
| HP:0000602 | Ophthalmoplegia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 15273283[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168593
- This record as JSON: /data/d/168593.json