ORPHA:2802
X-linked sideroblastic anemia and spinocerebellar ataxia
Synonyms: Pagon-Bird-Detter syndrome · X-linked sideroblastic anemia with ataxia · XLSA-A
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked sideroblastic anemia and spinocerebellar ataxia | Pagon-Bird-Detter syndrome · X-linked sideroblastic anemia with ataxia · XLSA-A |
| fr | Anémie sidéroblastique liée à l'X et ataxie spinocérébelleuse | Anémie sidéroblastique liée à l'X avec ataxie · Syndrome de Pagon-Bird-Detter · XLSA-A |
| de | X-chromosomale sideroblastische Anämie und spinozerebelläre Ataxie | Pagon-Bird-Detter-Syndrom · X-chromosomale sideroblastische Anämie und Ataxie · XLSA-A |
| es | Anemia sideroblástica ligada al cromosoma X y ataxia espinocerebelosa | Anemia sideroblástica ligada al cromosoma X con ataxia · Síndrome de Pagon-Bird-Detter · XLSA-A |
| it | Anemia sideroblastica legata all'X e atassia spinocerebellare | Anemia sideroblastica legata all'X con atassia · XLSA-A |
| nl | X-gebonden sideroblastische anemie en spinocerebellaire ataxie | Syndroom van Pagon-Bird-Detter · X-gebonden sideroblastische anemie met ataxie · XLSA-A |
| pt | Anemia sideroblástica-ataxia espinocerebelosa ligada ao X | |
| pl | Niedokrwistość syderoblastyczna sprzężona z chromosomem X i ataksja | XLSA-A · Zespół Pagon, Birda i Dettera · Niedokrwistość syderoblastyczna sprzężona z chromosomem X i z ataksją |
| cs | X-vázaná sideroblastická anémie a ataxie | X-vázaná sideroblastická anémie s ataxií · XLSA-A |
| uk | Х-зчеплена сидеробластна анемія та спіноцеребеллярна атаксія | Синдром Пагона-Берд-Деттера · Х-зчеплена сидеробластна анемія з атаксією · XLSA-A |
| zh | X连锁铁粒幼细胞贫血和脊髓小脑共济失调 | X连锁铁粒幼细胞性贫血伴共济失调 |
| tr | X'e bağlı sideroblastik anemi ve spinoserebellar ataksi | XLSA-A · Pagon-Bird-Detter sendromu · Ataksi ile seyreden X'e bağlı sideroblastik anemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301310 | E | validated | |
| ICD-10 | D64.0 | NTBT | attributed | validated |
| ICD-11 | 3A72.01 | NTBT | index | validated |
| MONDO | 0010524 | E | validated | |
| MeSH | C536358 | E | validated | |
| UMLS | C1845028 | E | validated | |
| GARD | 668 | 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:98362Constitutional sideroblastic anemia
rare genetic diseases; rare hematological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:254837Unspecified mitochondrial disorder
rare inborn errors of metabolism; rare genetic diseases - ORPHA:247765X-linked cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCB7 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:48 | ENSG00000131269 | 300135 | Xq13.3 | ATP binding cassette subfamily B member 7 | 20301496[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 22398176[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 22398176[PMID]_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
32 annotations · validated 2024-01-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001903 | Anemia | |
| HP:0001251 | Ataxia | |
| HP:0031936 | Delayed ability to walk | |
| HP:0002066 | Gait ataxia | |
| HP:0012187 | Increased erythrocyte protoporphyrin concentration | |
| Frequent (79-30%) | ||
| HP:0011273 | Anisocytosis | |
| HP:0001348 | Brisk reflexes | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0001347 | Hyperreflexia | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0000639 | Nystagmus | |
| HP:0002172 | Postural instability | |
| HP:0001924 | Sideroblastic anemia | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0000717 | Autism | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0034499 | Increased bone marrow iron | |
| HP:0020081 | Pappenheimer bodies | |
| HP:0004447 | Poikilocytosis | |
| Very rare (<4-1%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0000716 | Depression | |
| HP:0001992 | Organic aciduria | |
| HP:0100753 | Schizophrenia | |
| HP:0001250 | Seizure | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 34354969[PMID]_4045952[PMID]_11118249[PMID]_22398176[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2802
- This record as JSON: /data/d/2802.json