ORPHA:2576
Mulibrey nanism
Synonyms: MUL · Mulibrey growth disorder · Muscle-liver-brain-eye nanism
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mulibrey nanism | MUL · Mulibrey growth disorder · Muscle-liver-brain-eye nanism |
| fr | Nanisme Mulibrey | MUL · Nanisme muscle-foie-cerveau-oeil |
| de | Mulibrey-Kleinwuchs | MUL · Mulibrey-Wachstumsstörung |
| es | Síndrome de MULIBREY | Enanismo músculo-hígado-cerebro-ojo · MUL · Trastorno del crecimiento MULIBREY |
| it | Nanismo MULIBREY | |
| nl | Mulibrey-nanisme | MUL · Mulibrey-groeistoornis · Spier-lever-hersenen-oog nanisme |
| pt | Nanismo de Mulibrey | Doença do crescimento de Mulibrey · MUL |
| pl | Niskorosłość | Karłowatość MULIBREY · Niskorosłość mięśniowo-wątrobowo-mózgowo-oczna · Zaciśnięcie osierdzia - opóźnienie wzrostu · Zespół Perheentupa |
| cs | MULIBREY nanismus | MULIBREY trpaslictví · Nanismus postihující svaly, játra, mozek a oči · Perheentupův syndrom · Syndrom zahrnující perikardiální konstrikci a selhání růstu |
| uk | Нанізм Мулібрі | MUL · Розлад росту Мулібрі · Мязово-печінково-мозково-очний нанізм |
| zh | Mulibrey侏儒症 | 肌肉-肝-脑-眼侏儒症 |
| tr | Mulibrey nanizmi | MUL · Mulibrey büyüme bozukluğu · Kas-karaciğer-beyin-göz nanizmi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253250 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009664 | E | validated | |
| MeSH | D050336 | E | validated | |
| UMLS | C0524582 | E | validated | |
| GARD | 95 | 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 (2):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRIM37 | Disease-causing germline mutation(s) in | Assessed | HGNC:7523 | ENSG00000108395 | 605073 | 17q22 | tripartite motif containing 37 | 19347900[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 29731032[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_29731032[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.7 / 100 000 | Finland | Value and class | Validated | 12627297[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0004326 | Cachexia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002680 | J-shaped sella turcica | |
| HP:0000256 | Macrocephaly | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0002240 | Hepatomegaly | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2576
- This record as JSON: /data/d/2576.json