ORPHA:2349
Muscular pseudohypertrophy-hypothyroidism syndrome
Synonyms: Hoffmann syndrome · Kocher-Debré-Semelaigne syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Muscular pseudohypertrophy-hypothyroidism syndrome | Hoffmann syndrome · Kocher-Debré-Semelaigne syndrome |
| fr | Syndrome de pseudohypertrophie musculaire-hypothyroïdie | Syndrome de Hoffmann · Syndrome de Kocher-Debré-Semelaigne |
| de | Muskelpseudohypertrophie - Hypothyreose | Hoffman-Syndrom · Kocher-Debré-Semelaigne-Syndrom |
| es | Síndrome de pseudohipertrofia muscular-hipotiroidismo | Síndrome de Hoffmann · Síndrome de Kocher-Debré-Semelaigne |
| it | Pseudoipertrofia muscolare - ipotiroidismo | Sindrome di Hoffman · Sindrome di Kocher-Debré-Semelaigne |
| nl | Musculaire pseudohypertrofie - hypothyreoïdie-syndroom | Syndroom van Hoffman · Syndroom van Kocher-Debré-Semelaigne |
| pt | Síndrome de pseudohipertrofia muscular-hipotiroidismo | Síndrome Hoffmann · Síndrome Kocher-Debré-Semelaigne |
| pl | Pseudohipertrofia mięśni - niedoczynność tarczycy | Zespół Hoffmana · Zespół Kochera, Debré i Semelaigne |
| cs | Syndrom zahrnující svalovou pseudohypertrofii a hypotyreózu | Hoffmanův syndrom · Kocher-Debrého-Semelaignův syndrom · Kocher-Debré-Semelaignův syndrom |
| uk | Синдром мязової псевдогіпертрофії-гіпотиреозу | Синдром Гофмана · Синдром Кохера-Дебре-Семелена |
| zh | 假性肌肥大-甲状腺功能减退综合征 | Kocher-Debré-Semelaigne综合征 |
| tr | Kas psödohipertrofisi-hipotiroidi sendromu | Hoffmann sendromu · Kocher-Debré-Semelaigne sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E03.1 | NTBT | attributed | validated |
| ICD-11 | 5A00.0Y | NTBT | index | validated |
| MONDO | 0016521 | E | validated | |
| MeSH | C537211 | E | validated | |
| UMLS | C0270958 | E | validated | |
| GARD | 8270 | E | validated | |
| MedDRA | 10090560 | 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 (1):
- ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000280 | Coarse facial features | |
| HP:0100543 | Cognitive impairment | |
| HP:0002019 | Constipation | |
| HP:0001288 | Gait disturbance | |
| HP:0000821 | Hypothyroidism | |
| HP:0000952 | Jaundice | |
| HP:0000158 | Macroglossia | |
| HP:0001324 | Muscle weakness | |
| HP:0003326 | Myalgia | |
| HP:0003198 | Myopathy | |
| HP:0004322 | Short stature | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| HP:0002360 | Sleep abnormality | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2349
- This record as JSON: /data/d/2349.json