ORPHA:261584
5q22 microdeletion syndrome
Synonyms: Del(5)(q22) syndrome · Monosomy 5q22 syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 5q22 microdeletion syndrome | Del(5)(q22) syndrome · Monosomy 5q22 syndrome |
| fr | Syndrome de microdélétion 5q22 | Syndrome de monosomie 5q22 · Syndrome del(5)(q22) |
| de | Mikrodeletionssyndrom 5q22 | Del(5)(q22) · Monosomie 5q22.2 |
| es | Síndrome de microdeleción 5q22 | Síndrome Del(5)(q22) · Síndrome de monosomía 5q22 |
| it | Poliposi adenomatosa familiare da microdelezione 5q22.2 | FAP da monosomia 5q22.2 · Poliposi adenomatosa colorettale da monosomia 5q22.2 · Poliposi adenomatosa familiare da del(5)(q22.2) · Poliposi adenomatosa familiare da monosomia 5q22.2 · Poliposi rettocolica familiare da monosomia 5q22.2 |
| nl | 5q22.2-microdeletiesyndroom | Del(5)(q22)-syndroom · Monosomie 5q22-syndroom |
| pt | Síndrome de microdeleção 5q22 | Síndrome del(5)(q22) · Síndrome monossomia 5q22 |
| pl | Rodzinna polipowatość gruczolakowata z powodu mikrodelecji 5q22.2 | FAP z powodu monosomii 5q22.2 · Polipowatość gruczolakowata jelita grubego i odbytnicy z powodu monosomii 5q22.2 · Rodzinna polipowatość gruczolakowata z powodu del(5)(q22.2) · Rodzinna polipowatość gruczolakowata z powodu monosomii 5q22.2 · Rodzinna polipowatość jelita grubego z powodu monosomii 5q22.2 |
| cs | Familiární adenomatózní polypóza způsobená mikrodelecí 5q22.2 | Kolorektální adenomatózní polypóza způsobená monozomií 5q22.2 · FAP způsobená monozomií 5q22.2 · Familiární adenomatózní polypóza způsobená del(5)(q22.2) · Familiární adenomatózní polypóza způsobená monozomií 5q22.2 · Familiární polypóza střeva způsobená monozomií 5q22.2 |
| uk | Сімейний аденоматозний поліпоз, зумовлений мікроделецією 5q22.2 | Аденоматозний поліпоз товстої кишки внаслідок моносомії 5q22.2 · Сімейний аденоматозний поліпоз через del(5)(q22.2) · Сімейний аденоматозний поліпоз внаслідок моносомії 5q22.2 · Сімейний поліпоз товстої кишки внаслідок моносомії 5q22.2 · FAP внаслідок моносомії 5q22.2 |
| zh | 5q22.2微缺失所致家族性腺瘤性息肉病 | 5q22.2单体所致结直肠腺瘤性息肉病 |
| tr | 5q22.2 mikrodelesyonuna bağlı ailesel adenomatöz polipoz | Monozomi 5q22.2 nedeniyle FAP · Monozomi 5q22.2'ye bağlı ailesel polipoz koli · Del (5) (q22.2) 'ye bağlı ailesel adenomatöz polipoz · Monozomi 5q22.2'ye bağlı ailesel adenomatöz polipoz · Monozomi 5q22.2'ye bağlı kolorektal adenomatöz polipoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.50 | NTBT | attributed | validated |
| MONDO | 0016860 | E | validated | |
| UMLS | C5548205 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:104010Intestinal polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262038Partial deletion of the long arm of chromosome 5 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| APC | Role in the phenotype of | Assessed | HGNC:583 | ENSG00000134982 | 611731 | 5q22.2 | APC regulator of Wnt signaling pathway | 20301519[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
35 annotations · validated 2019-01-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005227 | Adenomatous colonic polyposis | |
| Frequent (79-30%) | ||
| HP:0011078 | Abnormality of canine | |
| HP:0000455 | Broad nasal tip | |
| HP:0007649 | Congenital hypertrophy of retinal pigment epithelium | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0004783 | Duodenal polyposis | |
| HP:0010522 | Dyslexia | |
| HP:0002234 | Early balding | |
| HP:0200040 | Epidermoid cyst | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002584 | Intestinal bleeding | |
| HP:0001891 | Iron deficiency anemia | |
| HP:0000276 | Long face | |
| HP:0000343 | Long philtrum | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0004482 | Relative macrocephaly | |
| HP:0000215 | Thick upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0006536 | Airway obstruction | |
| HP:0003003 | Colon cancer | |
| HP:0100245 | Desmoid tumors | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002162 | Low posterior hairline | |
| HP:0000347 | Micrognathia | |
| HP:0007766 | Optic disc hypoplasia | |
| HP:0001115 | Posterior polar cataract | |
| HP:0000470 | Short neck | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0002064 | Spastic gait | |
| Very rare (<4-1%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0002884 | Hepatoblastoma | |
| HP:0100246 | Osteoma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 1315124[PMID]_2537430[PMID]_1313112[PMID]_25955461[PMID]_20931355[PMID]_22525412[PMID]_2193168[PMID]_22825279[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261584
- This record as JSON: /data/d/261584.json