ORPHA:621
Autosomal recessive methemoglobinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive methemoglobinemia | |
| fr | Méthémoglobinémie autosomique récessive | |
| de | Methämoglobinämie, autosomal-rezessive | |
| es | Metahemoglobinemia autosómica recesiva | |
| it | Metemoglobinemia autosomica recessiva | |
| nl | Autosomaal recessieve methemoglobinemie | |
| pt | Metahemoglobinemia autossómica recessiva | |
| pl | Methemoglobinemia o dziedziczeniu autosomalnym recesywnym | Methemoglobinemia wrodzona · Autosomalna recesywna methemoglobinemia |
| cs | Hereditární methemoglobinémie | |
| uk | Спадкова метгемоглобінемія | Аутосомно-рецесивна метгемоглобінемія · Вроджена метгемоглобінемія |
| zh | 遗传性高铁血红蛋白血症 | 常染色体隐性高铁血红蛋白血症 |
| tr | Kalıtsal methemoglobinemi | Doğumsal methemoglobinemi · Otozomal Çekinik methemoglobinemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250700 | BTNT | validated | |
| OMIM | 250790 | BTNT | validated | |
| OMIM | 250800 | BTNT | validated | |
| ICD-10 | D74.0 | NTBT | attributed | validated |
| MONDO | 0018963 | E | validated | |
| MeSH | C580280 | E | validated | |
| UMLS | C0272087 | E | validated | |
| GARD | 2659 | E | validated | |
| MedDRA | 10010543 | 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 (3):
- ORPHA:707993Methemoglobinemia-related cyanosis
rare hematological diseases - ORPHA:158300Rare genetic hematologic disease
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:139373OBSOLETE: Recessive hereditary methemoglobinemia type 1 referred to · inactive
- ORPHA:139380OBSOLETE: Recessive hereditary methemoglobinemia type 2 referred to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYB5A | Candidate gene tested in | Not yet assessed | HGNC:2570 | ENSG00000166347 | 613218 | 18q22.3 | cytochrome b5 type A | |
| CYB5R3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2873 | ENSG00000100243 | 613213 | 22q13.2 | cytochrome b5 reductase 3 | 18820099[PMID]_18202104[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
26 annotations · validated 2019-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000961 | Cyanosis | |
| HP:0012119 | Methemoglobinemia | |
| Frequent (79-30%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002875 | Exertional dyspnea | |
| HP:0025118 | Lip discoloration | |
| Occasional (29-5%) | ||
| HP:0002305 | Athetosis | |
| HP:0000592 | Blue sclerae | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0006808 | Cerebral hypomyelination | |
| HP:0000565 | Esotropia | |
| HP:0006913 | Frontal cortical atrophy | |
| HP:0002283 | Global brain atrophy | |
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002451 | Limb dystonia | |
| HP:0000252 | Microcephaly | |
| HP:0011344 | Severe global developmental delay | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0001257 | Spasticity | |
| HP:0007112 | Temporal cortical atrophy | |
| Very rare (<4-1%) | ||
| HP:0012448 | Delayed myelination | |
| HP:0001276 | Hypertonia | |
| HP:0001250 | Seizure | |
| HP:0012697 | Small basal ganglia | |
| HP:0001518 | Small for gestational age | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24266649[PMID]_29482478[PMID]_10874300[PMID]_7718898[PMID]_9695975[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/621
- This record as JSON: /data/d/621.json