Familial multinodular goiter
Synonyms: FMNG · Familial MNG · Familial multinodular goiter syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent
- Status
- active
A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial multinodular goiter | FMNG · Familial MNG · Familial multinodular goiter syndrome |
| fr | Goitre multinodulaire familial | FMNG · GMN familial · MNG familial · Syndrome de goitre multinodulaire familial |
| de | Familiärer multinodulärer Kropf | FMNG · Familiäres multinoduläres Struma-Syndrom · MNG, familiär |
| es | Bocio multinodular familiar | FMNG · MNG familiar · Síndrome de bocio multinodular familiar |
| it | Gozzo multinodulare familiare | FMNG · MNG familiare · Sindrome del gozzo multinodale familiare |
| nl | Familiaal multinodulair struma | FMNG · Familiaal MNG · Familiaal multinodulair struma-syndroom |
| pt | Bócio multinodular familiar | MNG familiar · Síndrome de bócio multinodular familiar · FMNG |
| pl | Rodzinne wole wieloguzkowe | FMNG · Rodzinne MNG |
| cs | Familiární multinodulární struma | FMNG · Familiární MNG |
| uk | Сімейний багатовузловий зоб | Сімейний MNG · Сімейний синдром багатовузлового зоба · FMNG |
| zh | 家族性多结节甲状腺肿 | 家族性MNG |
| tr | ailesel multinodüler guatr | FMNG · Ailesel MNG |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 138800 | E | validated | |
| ICD-10 | E04.2 | NTBT | attributed | validated |
| ICD-11 | 5A01.2 | NTBT | attributed | validated |
| MONDO | 0007681 | E | validated | |
| UMLS | C5779622 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:183631Rare genetic thyroid disease
rare genetic diseases - ORPHA:101955Rare thyroid disease
rare endocrine diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KEAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:23177 | ENSG00000079999 | 606016 | 19p13.2 | kelch like ECH associated protein 1 | 23724128[PMID] |
| DICER1 | Major susceptibility factor in | Assessed | HGNC:17098 | ENSG00000100697 | 606241 | 14q32.13 | dicer 1, ribonuclease III | 21205968[PMID] |
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.
HPO phenotypes
14 annotations · validated 2016-12-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0005987 | Multinodular goiter | |
| Frequent (79-30%) | ||
| HP:0002671 | Basal cell carcinoma | |
| HP:0200063 | Colorectal polyposis | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0100528 | Pleuropulmonary blastoma | |
| HP:0005584 | Renal cell carcinoma | |
| HP:0100619 | Sertoli cell neoplasm | |
| HP:0100617 | Testicular seminoma | |
| Very rare (<4-1%) | ||
| HP:0006779 | Alveolar rhabdomyosarcoma | |
| HP:0007129 | Cerebellar medulloblastoma | |
| HP:0030071 | Medulloepithelioma | |
| HP:0030434 | Pilomatrixoma | |
| HP:0002890 | Thyroid carcinoma | |
| Excluded (0%) | ||
| HP:0000836 | Hyperthyroidism | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21266384[PMID]_26577641[PMID]_26555935[PMID]_25451712[PMID]_21205968[PMID]_18570301[PMID]_4358956[PMID]_9345104[PMID]_6261577[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276399
- This record as JSON: /data/d/276399.json