ORPHA:573
Monilethrix
Synonyms: Moniliform hair syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monilethrix | Moniliform hair syndrome |
| fr | Monilethrix | Aplasie moniliforme · Syndrome de Sabouraud |
| de | Monilethrix | Monilitrichie |
| es | Monilethrix | Síndrome del cabello moniliforme |
| it | Monilethrix | Sindrome dei capelli moniliformi |
| nl | Monilethrix | Moniliform haarsyndroom |
| pt | Moniletrix | |
| pl | Włosy paciorkowate | Zespół włosów paciorkowatych |
| cs | Moniletrix | Syndrom moniliformních vlasů |
| uk | Монілетрикс | Синдром моніліформного волосся |
| zh | 念珠状毛发 | 念珠状毛发综合征 |
| tr | Moniletriks | Moniliform saç sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158000 | BTNT | validated | |
| OMIM | 621169 | BTNT | validated | |
| OMIM | 621170 | BTNT | validated | |
| ICD-10 | Q84.1 | NTBT | inclusion | validated |
| ICD-11 | EC21.0 | NTBT | index | validated |
| MONDO | 0008009 | E | validated | |
| MeSH | D056734 | E | validated | |
| UMLS | C0546966 | E | validated | |
| GARD | 93 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79366Isolated hair shaft abnormality
rare genetic diseases; rare skin diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DSG4 | Disease-causing germline mutation(s) in | Assessed | HGNC:21307 | ENSG00000175065 | 607892 | 18q12.1 | desmoglein 4 | 16575393[PMID]_21495994[PMID] |
| KRT81 | Disease-causing germline mutation(s) in | Assessed | HGNC:6458 | ENSG00000205426 | 602153 | 12q13.13 | keratin 81 | 9402962[PMID]_9665406[PMID] |
| KRT83 | Disease-causing germline mutation(s) in | Assessed | HGNC:6460 | ENSG00000170523 | 602765 | 12q13.13 | keratin 83 | 15744029[PMID] |
| KRT86 | Disease-causing germline mutation(s) in | Assessed | HGNC:6463 | ENSG00000170442 | 601928 | 12q13 | keratin 86 | 9241275[PMID]_22670615[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0002299 | Brittle hair | |
| HP:0002213 | Fine hair | |
| HP:0007502 | Follicular hyperkeratosis | |
| HP:0002232 | Patchy alopecia | |
| HP:0002217 | Slow-growing hair | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000518 | Cataract | |
| HP:0100543 | Cognitive impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0100753 | Schizophrenia | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/573
- This record as JSON: /data/d/573.json