X-linked Alport syndrome-diffuse leiomyomatosis
Synonyms: Xq22.3 microdeletion syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked Alport syndrome-diffuse leiomyomatosis | Xq22.3 microdeletion syndrome |
| fr | Syndrome d'Alport lié à l'X-léiomyomatose diffuse | Microdélétion Xq22.3 |
| de | X-chromosomales Alport-Syndrom mit diffuser Leiomyomatose | Mikrodeletionssyndrom Xq22.3 |
| es | Síndrome de Alport ligado al cromosoma X-leiomiomatosis difusa | Síndrome de microdeleción Xq22.3 |
| it | Sindrome di Alport legata all'X-leiomiomatosi diffusa | Sindrome da microdelezione Xq22.3 |
| nl | X-gebonden syndroom van Alport - diffuse leiomyomatose | Xq22.3-microdeletiesyndroom |
| pt | Síndrome Alport ligada ao X-leiomiomatose difusa | |
| pl | Zespół Alporta związany z chromosomem X-rozlana mięśniakowatość macicy | Zespół mikrodelecji Xq22.3 |
| cs | X-vázaná difuzní leiomyomatóza s Alportovým syndromem | Xq22.3 mikrodeleční syndrom |
| uk | Х-зчеплений синдром Альпорта - дифузний лейоміоматоз | Синдром мікроделеції Xq22.3 |
| zh | X连锁Alport综合征-弥漫性平滑肌瘤病 | Xq22.3 微缺失综合征 |
| tr | X'e bağlı Alport sendromu-diffüz leiomiyomatoz | Xq22.3 mikrodelesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 150700 | BTNT | validated | |
| OMIM | 308940 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0010641 | E | validated | |
| UMLS | C4511693 | E | validated | |
| GARD | 2432 | 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:63Alport syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare ophthalmic disorders; rare otorhinolaryngological diseases; rare transplant-related disorders - ORPHA:263756Partial deletion of the long arm of chromosome X syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL4A5 | Role in the phenotype of | Assessed | HGNC:2207 | ENSG00000188153 | 303630 | Xq22.3 | collagen type IV alpha 5 chain | 20951201[PMID] |
| COL4A6 | Role in the phenotype of | Assessed | HGNC:2208 | ENSG00000197565 | 303631 | Xq22.3 | collagen type IV alpha 6 chain | 20951201[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
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
39 annotations · validated 2020-12-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002031 | Abnormal esophagus morphology | |
| HP:0002015 | Dysphagia | |
| HP:0100751 | Esophageal neoplasm | |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract | |
| Frequent (79-30%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0010460 | Abnormality of the female genitalia | |
| HP:0002571 | Achalasia | |
| HP:0000518 | Cataract | |
| HP:0100749 | Chest pain | |
| HP:0012622 | Chronic kidney disease | |
| HP:0006756 | Diffuse leiomyomatosis | |
| HP:0410281 | Dyspepsia | |
| HP:0001508 | Failure to thrive | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000790 | Hematuria | |
| HP:0100771 | Hypoperistalsis | |
| HP:0000112 | Nephropathy | |
| HP:0000093 | Proteinuria | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003262 | Smooth muscle antibody positivity | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0012252 | Abnormal respiratory system morphology | |
| HP:0011501 | Anterior lenticonus | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0012735 | Cough | |
| HP:0002094 | Dyspnea | |
| HP:0010450 | Esophageal stenosis | |
| HP:0010614 | Fibroma | |
| HP:0000491 | Keratitis | |
| HP:0000545 | Myopia | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0032141 | Precordial pain | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0006524 | Tracheobronchial leiomyomatosis | |
| HP:0010784 | Uterine neoplasm | |
| HP:0100650 | Vaginal neoplasm | |
| HP:0030416 | Vulvar neoplasm | |
| HP:0001824 | Weight loss | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 3153032[PMID]_30322718[PMID]_23765124[PMID]_28275241[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1018
- This record as JSON: /data/d/1018.json