ORPHA:86818
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Synonyms: AMME syndrome · ATS-MR · AMME complex
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including <i>COL4A5</i>, <i>FACL4</i> and <i>AMMECR1</i>.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | AMME syndrome · ATS-MR · AMME complex |
| fr | Syndrome d'Alport-déficience intellectuelle-hypoplasie du visage-elliptocytose | ATS-MR · Complexe AMME · Syndrome AMME |
| de | Alport-Syndrom-Intelligenzminderung-Mittelgesichtshypoplasie-Elliptozytose-Syndrom | AMME-Komplex · AMME-Syndrom · ATS-MR |
| es | Síndrome de Alport-discapacidad intelectual-hipoplasia medio facial-eliptocitosis | ATS-MR · Complejo AMME · Síndrome AMME |
| it | Sindrome di Alport-disabilità intellettiva-ipoplasia mediofacciale-ellissocitosi | ATS-MR · Complesso AMME · Sindrome AMME |
| nl | Syndroom van Alport - intellectuele achterstand - hypoplasie van middengezicht - elliptocytose-syndroom | AMME-complex · AMME-syndroom · ATS-MR |
| pt | Síndrome Alport-perturbação do desenvolvimento intelectual-hipoplasia do terço médio da face-eliptocitose | ATS-MR · Complexo AMME · Síndrome AMME |
| pl | Zespół Alporta - niepełnosprawność intelektualna - hipoplazja środkowej części twarzy - eliptocytoza | ATS-MR · Kompleks AMME · Zespół AMME |
| cs | Alportův syndrom s mentální retardací, hypoplázií střední části obličeje a eliptocytózou | AMME komplex · AMME syndrom · ATS-MR |
| uk | Синдром Альпорта-інтелектуальна недостатність-гіпоплазія середини обличчя-еліптоцитоз | Комплекс AMME · Синдром AMME · ATS-MR |
| zh | Alport综合征-智力障碍-面中部发育不全-椭圆形红细胞增多症综合征 | AMME综合征 |
| tr | Alport sendromu-zihinsel yetersizlik-orta yüz hipoplazisi-elliptositoz sendromu | ATS-MR · AMME kompleksi · AMME sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300194 | E | validated | |
| OMIM | 300990 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | attributed | validated |
| MONDO | 0010263 | E | validated | |
| MeSH | C564570 | E | validated | |
| UMLS | C1846242 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- 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:263756Partial deletion of the long arm of chromosome X syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:182043Rare constitutional hemolytic anemia
rare genetic diseases; rare hematological diseases - ORPHA:567554Systemic disease with glomerulopathy as a major feature
rare renal diseases; rare transplant-related disorders
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACSL4 | Role in the phenotype of | Assessed | HGNC:3571 | ENSG00000068366 | 300157 | Xq23 | acyl-CoA synthetase long chain family member 4 | 11889465[PMID]_9598718[PMID] |
| AMMECR1 | Role in the phenotype of | Assessed | HGNC:467 | ENSG00000101935 | 300195 | Xq23 | AMMECR nuclear protein 1 | 10049589[PMID]_27811305[PMID] |
| KCNE5 | Role in the phenotype of | Assessed | HGNC:6241 | ENSG00000176076 | 300328 | Xq23 | potassium voltage-gated channel subfamily E regulatory subunit 5 | 12011158[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 7923864[PMID]_9598718[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.
6
HPO phenotypes
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001595 | Abnormality of the hair | |
| HP:0000463 | Anteverted nares | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0100820 | Glomerulopathy | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000272 | Malar flattening | |
| HP:0002907 | Microscopic hematuria | |
| HP:0000093 | Proteinuria | |
| Frequent (79-30%) | ||
| HP:0004445 | Elliptocytosis | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0000083 | Renal insufficiency | |
| HP:0001182 | Tapered finger | |
| HP:0012471 | Thick vermilion border | |
| HP:0000233 | Thin vermilion border | |
| Occasional (29-5%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000545 | Myopia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000486 | Strabismus | |
| HP:0011069 | Supernumerary tooth | |
Run the differential on the 9 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86818
- This record as JSON: /data/d/86818.json