ORPHA:49827
Thiamine-responsive megaloblastic anemia syndrome
Synonyms: Rogers syndrome · TRMA · Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness · Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thiamine-responsive megaloblastic anemia syndrome | Rogers syndrome · TRMA · Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness · Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss |
| fr | Anémie mégaloblastique thiamine-dépendante | Anémie mégaloblastique sensible à la thiamine · Syndrome d'anémie mégaloblastique sensible à la thiamine-diabète sucré-surdité de perception · Syndrome de Rogers · TRMA |
| de | Thiamin-responsive megaloblastäre Anämie mit Diabetes mellitus und sensorineuraler Schwerhörigkeit | Rogers-Syndrom · TRMA · Thiamin-responsiven Megaloblastenanämie mit Diabetes mellitus und Schallempfindungs-Schwerhörigkeit |
| es | Síndrome de anemia megaloblástica sensible a la tiamina | Anemia megaloblástica sensible a la tiamina con diabetes mellitus e hipoacusia neurosensorial · Anemia megaloblástica sensible a la tiamina con diabetes mellitus y sordera neurosensorial · Síndrome de Rogers · TRMA |
| it | Sindrome da anemia megaloblastica sensibile alla tiamina | Anemia megaloblastica sensibile alla tiamina con diabete mellito e sordità neurosensoriale · Sindrome di Rogers · TRMA |
| nl | Thiamineresponsieve megaloblastische anemie-syndroom | Syndroom van Rogers · TRMA · Thiaminegevoelige megaloblastaire anemie-syndroom · Thiamineresponsieve megaloblastische anemie met diabetes mellitus en sensorineurale doofheid |
| pt | Síndrome anemia megaloblástica tiamina-sensível | Doença de Roger |
| pl | Zespół niedokrwistości megaloblastycznej wrażliwej na tiaminę | Niedokrwistość megaloblastyczna wrażliwa na tiaminę z cukrzycą i głuchotą czuciowo-nerwową · TRMA · Zespół Rogersa |
| cs | Syndrom megaloblastové anémie reagující na thiamin | TRMA · Megaloblastová anémie reagující na thiamin s diabetes mellitus a senzorineurální hluchotou · Rogersův syndrom |
| uk | Синдром тіамінчутливої мегалобластної анемії | Синдром Роджерса · Тіамінчутлива мегалобластична анемія з цукровим діабетом та сенсоневральною глухотою · Тіаміно-чутлива мегалобластна анемія з цукровим діабетом та нейросенсорною приглухуватістю · TRMA |
| zh | 维生素B反应型巨幼细胞性贫血综合征 | 硫胺素敏感性巨幼红细胞性贫血伴糖尿病和听觉丧失 |
| tr | Tiamine duyarlı megaloblastik anemi sendromu | TRMA · Rogers sendromu · Diabetes mellitus ve sensörinöral sağırlık ile seyreden Tiamine duyarlı megaloblastik anemi, · Diabetes mellitus ve sensörinöral işitme kaybı ile seyreden Tiamine duyarlı megaloblastik anemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249270 | E | validated | |
| ICD-10 | D53.1 | NTBT | attributed | validated |
| ICD-11 | 5C63.Y | NTBT | index | validated |
| MONDO | 0009575 | E | validated | |
| MeSH | C536510 | E | validated | |
| UMLS | C0342287 | E | validated | |
| GARD | 9210 | 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 (6):
- ORPHA:98362Constitutional sideroblastic anemia
rare genetic diseases; rare hematological diseases - ORPHA:298644Disorder of thiamine metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:181381Other rare diabetes mellitus
rare endocrine diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98415Vitamin B12- and folate-independent constitutional megaloblastic anemia
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC19A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10938 | ENSG00000117479 | 603941 | 1q24.2 | solute carrier family 19 member 2 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 80 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002039 | Anorexia | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002014 | Diarrhea | |
| HP:0002315 | Headache | |
| HP:0001254 | Lethargy | |
| HP:0001889 | Megaloblastic anemia | |
| HP:0000980 | Pallor | |
| HP:0003401 | Paresthesia | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000648 | Optic atrophy | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0001695 | Cardiac arrest | |
| HP:0001635 | Congestive heart failure | |
| HP:0006671 | Paroxysmal atrial tachycardia | |
| HP:0000556 | Retinal dystrophy | |
| HP:0004322 | Short stature | |
| HP:0001297 | Stroke | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000572 | Visual loss | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 20301459[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/49827
- This record as JSON: /data/d/49827.json