ORPHA:77297
Majeed syndrome
Synonyms: Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Majeed syndrome | Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome |
| fr | Syndrome de Majeed | Syndrome d'ostéomyélite multifocale récurrente chronique-anémie dysérythropoïétique congénitale-dermatose neutrophile |
| de | Majeed-Syndrom | Osteomyelitis, chronische multifokale rezidivierende - kongenitale dyserythropoetische Anämie - neutrophile Dermatose |
| es | Síndrome de Majeed | |
| it | Sindrome di Majeed | Osteomielite cronica ricorrente multifocale - anemia diseritropoietica congenita - dermatosi neutrofila |
| nl | Syndroom van Majeed | Chronische terugkerende multifocale osteomyelitis - congenitale dyserytropoëtische anemie - neutrofiele dermatose-syndroom |
| pt | Síndrome de Majeed | Osteomielite multifocal recorrente crónica - anemia diseritropoiética congénita - dermatose neutrofílica |
| pl | Zespół Majeed | Przewlekłe nawracające zapalenie kości i szpiku - wrodzona niedokrwistość dyserytropoetyczna - neutrofilowe zapalenie skóry |
| cs | Majeedův syndrom | Syndrom zahrnující chronickou rekurentní multifokální osteomyelitidu, vrozenou dyserytropoetickou anémii a neutrofilní dermatózu |
| uk | Синдром Маджида | Синдром хронічного рецидивуючого мультифокального остеомієліту - вродженої дизеритропоетичної анемії - нейтрофільного дерматозу |
| zh | Majeed综合征 | 慢性复发性多灶性骨髓炎-先天性纯红细胞再生障碍性贫血-嗜中性皮病综合征 |
| tr | Majeed sendromu | Kronik tekrarlayan multifokal osteomiyelit-Doğumsal diseritropoietik anemi-nötrofilik dermatoz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609628 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.Y | NTBT | index | validated |
| MONDO | 0012316 | E | validated | |
| MeSH | C537839 | E | validated | |
| UMLS | C1864997 | E | validated | |
| GARD | 10088 | E | validated | |
| MedDRA | 10072223 | 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 (8):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:293830Constitutional dyserythropoietic anemia
rare genetic diseases; rare hematological diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:498445Genetic inflammatory or rheumatoid-like osteoarthropathy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:324927Pyogenic autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:324942Pyogenic autoinflammatory syndrome of childhood
rare systemic or rheumatologic diseases of childhood - ORPHA:619238Rare hereditary autoinflammatory disease
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LPIN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:14450 | ENSG00000101577 | 605519 | 18p11.31 | lipin 2 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 20301735[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301735[PMID] |
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 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012647 | Abnormal inflammatory response | |
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0002829 | Arthralgia | |
| HP:0002653 | Bone pain | |
| HP:0004326 | Cachexia | |
| HP:0004810 | Congenital hypoplastic anemia | |
| HP:0001945 | Fever | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0003025 | Metaphyseal irregularity | |
| HP:0002754 | Osteomyelitis | |
| HP:0200034 | Papule | |
| HP:0200039 | Pustule | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0001061 | Acne | |
| HP:0000969 | Edema | |
| HP:0001508 | Failure to thrive | |
| HP:0002315 | Headache | |
| HP:0002240 | Hepatomegaly | |
| HP:0011001 | Increased bone mineral density | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0003326 | Myalgia | |
| HP:0001744 | Splenomegaly | |
| HP:0100769 | Synovitis | |
| Occasional (29-5%) | ||
| HP:0012735 | Cough | |
| HP:0001371 | Flexion contracture | |
| HP:0100820 | Glomerulopathy | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0002024 | Malabsorption | |
| HP:0002907 | Microscopic hematuria | |
| HP:0000093 | Proteinuria | |
| HP:0002113 | Pulmonary infiltrates | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301735[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/77297
- This record as JSON: /data/d/77297.json