ORPHA:217346
19q13.11 microdeletion syndrome
Synonyms: Monosomy 19q13.11 · Del(19)(q13.11)
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 19q13.11 microdeletion syndrome | Monosomy 19q13.11 · Del(19)(q13.11) |
| fr | Syndrome de microdélétion 19q13.11 | Del(19)(q13.11) · Monosomie 19q13.11 |
| de | Mikrodeletionssyndrom 19q13.11 | Del(19)(q13.11) · Monosomie 19q13.1 |
| es | Síndrome de microdeleción 19q13.11 | Del(19)(q13.11) · Monosomía 19q13.11 |
| it | Sindrome da microdelezione 19q13.11 | Del(19)(q13.11) · Monosomia 19q13.1 |
| nl | 19q13.11-microdeletiesyndroom | Del(19)(q13.11) · Monosomie 19q13.11 |
| pt | Síndrome de microdeleção 19q13.11 | |
| pl | Zespół mikrodelecji 19q13.11 | Del(19)(q13.11) · Monosomia 19q13.11 |
| cs | Mikrodeleční syndrom 19q13.11 | Del(19)(q13.11) · Monozomie 19q13.11 |
| uk | Синдром мікроделеції 19q13.11 | Del(19)(q13.11) · Моносомія 19q13.11 |
| zh | 19q13.11微缺失综合征 | 19q13.11单体 |
| tr | 19q13.11 mikrodelesyon sendromu | Del (19) (q13.11) · Monozomi 19q13.11 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613026 | BTNT | validated | |
| OMIM | 617219 | BTNT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.K0 | NTBT | index | validated |
| MONDO | 0013090 | E | validated | |
| UMLS | C4304577 | E | validated | |
| GARD | 10592 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262155Partial deletion of the long arm of chromosome 19 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSHZ3 | Role in the phenotype of | Assessed | HGNC:30700 | ENSG00000121297 | 614119 | 19q12 | teashirt zinc finger homeobox 3 | 36553458[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 24243649[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
40 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001057 | Aplasia cutis congenita | |
| HP:0004326 | Cachexia | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0010761 | Broad columella | |
| HP:0000028 | Cryptorchidism | |
| HP:0000958 | Dry skin | |
| HP:0002213 | Fine hair | |
| HP:0006101 | Finger syndactyly | |
| HP:0000348 | High forehead | |
| HP:0000276 | Long face | |
| HP:0002164 | Nail dysplasia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000278 | Retrognathia | |
| HP:0008070 | Sparse hair | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0200102 | Sparse or absent eyelashes | |
| HP:0002558 | Supernumerary nipple | |
| HP:0000963 | Thin skin | |
| HP:0000233 | Thin vermilion border | |
| HP:0001863 | Toe clinodactyly | |
| HP:0001770 | Toe syndactyly | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0006610 | Wide intermamillary distance | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000048 | Bifid scrotum | |
| HP:0000518 | Cataract | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0000365 | Hearing impairment | |
| HP:0000482 | Microcornea | |
| HP:0006315 | Single median maxillary incisor | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000154 | Wide mouth | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217346
- This record as JSON: /data/d/217346.json