ORPHA:33364
Trichothiodystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, syndromic hair shaft abnormality disorder characterized by short, dry, sulfur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trichothiodystrophy | |
| fr | Trichothiodystrophie | |
| de | Trichothiodystrophie | |
| es | Tricotiodistrofia | |
| it | Tricotiodistrofia | |
| nl | Trichothiodystrofie | |
| pt | Tricotiodistrofia | |
| pl | Trichotiodystrofia | |
| cs | Trichothiodystrofie | |
| uk | Трихотіодистрофія | |
| zh | 毛发低硫营养不良 | |
| tr | Trikotiyodistrofide |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 234050 | BTNT | validated | |
| OMIM | 300953 | BTNT | validated | |
| OMIM | 601675 | BTNT | validated | |
| OMIM | 616390 | BTNT | validated | |
| OMIM | 616395 | BTNT | validated | |
| OMIM | 616943 | BTNT | validated | |
| OMIM | 618546 | BTNT | validated | |
| OMIM | 618891 | BTNT | validated | |
| OMIM | 619691 | BTNT | validated | |
| OMIM | 619692 | BTNT | validated | |
| ICD-10 | L67.8 | NTBT | attributed | validated |
| ICD-11 | EC21.1 | NTBT | index | validated |
| MONDO | 0018053 | E | validated | |
| MeSH | D054463 | E | validated | |
| UMLS | C1955934 | E | validated | |
| GARD | 12109 | E | validated | |
| MedDRA | 10044628 | 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 (7):
- ORPHA:281222Autosomal ichthyosis syndrome with prominent hair abnormalities
rare genetic diseases; rare skin diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:399771Male infertility due to sperm disorder
rare genetic diseases; rare infertility disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:79367Syndromic hair shaft abnormality
rare genetic diseases; rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:453IBIDS syndrome moved to · inactive
- ORPHA:670PIBIDS syndrome moved to · inactive
- ORPHA:1245BIDS syndrome moved to · inactive
- ORPHA:1408Hair defect-photosensitivity-intellectual disability syndrome moved to · inactive
- ORPHA:2739Onycho-tricho-dysplasia-neutropenia syndrome moved to · inactive
- ORPHA:3123Brittle hair syndrome, Sabinas type moved to · inactive
- ORPHA:75789SIBIDS syndrome moved to · inactive
- ORPHA:75790Pollitt syndrome moved to · inactive
- ORPHA:231256Beta-thalassemia-trichothiodystrophy syndrome moved to · inactive
- ORPHA:281234OBSOLETE: Congenital ichthyosis with trichothiodystrophy referred to · inactive
4
Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20 | ENSG00000090861 | 601065 | 16q22.1 | alanyl-tRNA synthetase 1 | 33909043[PMID] |
| CARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1493 | ENSG00000110619 | 123859 | 11p15.4 | cysteinyl-tRNA synthetase 1 | 30824121[PMID] |
| DBR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15594 | 3q22.3 | debranching RNA lariats 1 | 40683339[PMID] | ||
| ERCC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3434 | ENSG00000104884 | 126340 | 19q13.32 | ERCC excision repair 2, TFIIH core complex helicase subunit | 12393803[PMID] |
| ERCC3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3435 | ENSG00000163161 | 133510 | 2q14.3 | ERCC excision repair 3, TFIIH core complex helicase subunit | 12393803[PMID] |
| GTF2E2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4651 | ENSG00000197265 | 189964 | 8p12 | general transcription factor IIE subunit 2 | 26996949[PMID] |
| GTF2H5 | Disease-causing germline mutation(s) in | Assessed | HGNC:21157 | ENSG00000272047 | 608780 | 6q25.3 | general transcription factor IIH subunit 5 | 12393803[PMID] |
| MPLKIP | Disease-causing germline mutation(s) in | Assessed | HGNC:16002 | ENSG00000168303 | 609188 | 7p14.1 | M-phase specific PLK1 interacting protein | |
| RNF113A | Disease-causing germline mutation(s) in | Assessed | HGNC:12974 | ENSG00000125352 | 300951 | Xq24 | ring finger protein 113A | 25612912[PMID] |
| TARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11572 | ENSG00000113407 | 187790 | 5p13.3 | threonyl-tRNA synthetase 1 | 31374204[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 201 cases | Worldwide | Case(s) | Validated | 18603627[PMID]_18329345[PMID]_19681155[PMID] | |
| Prevalence at birth | 1-9 / 1 000 000 | 0.12 / 100 000 | Europe | Value and class | Validated | 18329345[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.
6
HPO phenotypes
91 annotations · validated 2019-01-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001197 | Abnormality of prenatal development or birth | |
| HP:0007485 | Absence of subcutaneous fat | |
| HP:0002293 | Alopecia of scalp | |
| HP:0001903 | Anemia | |
| HP:0008386 | Aplasia/Hypoplasia of the nails | |
| HP:0000483 | Astigmatism | |
| HP:0007633 | Bilateral microphthalmos | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0000320 | Bird-like facies | |
| HP:0002299 | Brittle hair | |
| HP:4000007 | Bronchoconstriction | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000670 | Carious teeth | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0007266 | Cerebral dysmyelination | |
| HP:0001217 | Clubbing | |
| HP:0000280 | Coarse facial features | |
| HP:0001598 | Concave nail | |
| HP:0007381 | Congenital exfoliative erythroderma | |
| HP:0000509 | Conjunctivitis | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0003079 | Defective DNA repair after ultraviolet radiation damage | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000519 | Developmental cataract | |
| HP:0100275 | Diffuse cerebellar atrophy | |
| HP:0000958 | Dry skin | |
| HP:0001260 | Dysarthria | |
| HP:0001618 | Dysphonia | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0000656 | Ectropion | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000286 | Epicanthus | |
| HP:0000565 | Esotropia | |
| HP:0001808 | Fragile nails | |
| HP:0002066 | Gait ataxia | |
| HP:0007034 | Generalized hyperreflexia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0000133 | Gonadal dysgenesis | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001276 | Hypertonia | |
| HP:0410219 | Hypoplasia of mandible relative to maxilla | |
| HP:0001265 | Hyporeflexia | |
| HP:0000601 | Hypotelorism | |
| HP:0008064 | Ichthyosis | |
| HP:0011001 | Increased bone mineral density | |
| HP:0025548 | Increased mean corpuscular hemoglobin concentration | |
| HP:0002080 | Intention tremor | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001373 | Joint dislocation | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0002562 | Low-set nipples | |
| HP:0000608 | Macular degeneration | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0002828 | Multiple joint contractures | |
| HP:0000545 | Myopia | |
| HP:0007587 | Numerous pigmented freckles | |
| HP:0000639 | Nystagmus | |
| HP:0000938 | Osteopenia | |
| HP:0003139 | Panhypogammaglobulinemia | |
| HP:0010551 | Paraplegia/paraparesis | |
| HP:0001338 | Partial agenesis of the corpus callosum | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0000613 | Photophobia | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0000411 | Protruding ear | |
| HP:0006538 | Recurrent bronchopulmonary infections | |
| HP:0002719 | Recurrent infections | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0000546 | Retinal degeneration | |
| HP:0000278 | Retrognathia | |
| HP:0001807 | Ridged nail | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001257 | Spasticity | |
| HP:0001809 | Split nail | |
| HP:0002860 | Squamous cell carcinoma | |
| HP:0000486 | Strabismus | |
| HP:0002942 | Thoracic kyphosis | |
| HP:0045055 | Tiger tail banding | |
| HP:0001537 | Umbilical hernia | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 27473476[PMID]_29641717[PMID]_22739337[PMID]_21959366[PMID]_1634754[PMID]_984047[PMID]_4847854[PMID]_5645693[PMID]_18603627[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33364
- This record as JSON: /data/d/33364.json