ORPHA:79500
DOORS syndrome
Synonyms: Autosomal recessive deafness-onychodystrophy syndrome · Autosomal recessive hearing loss-onychodystrophy syndrome · DOOR syndrome · Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome · Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Deafness-onychoosteodystrophy-intellectual disability syndrome · Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome · Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Hearing loss-onychoosteodystrophy-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DOORS syndrome | Autosomal recessive deafness-onychodystrophy syndrome · Autosomal recessive hearing loss-onychodystrophy syndrome · DOOR syndrome · Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome · Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Deafness-onychoosteodystrophy-intellectual disability syndrome · Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome · Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Hearing loss-onychoosteodystrophy-intellectual disability syndrome |
| fr | Syndrome DOORS | Syndrome DOOR · Syndrome de surdité-onycho-ostéodystrophie-déficience intellectuelle · Syndrome de surdité-onycho-ostéodystrophie-déficience intellectuelle-épilepsie · Syndrome de surdité-onychodystrophie autosomique récessif · Syndrome de surdité-onychodystrophie-ostéodystrophie-déficience intellectuelle |
| de | DOORS-Syndrom | DOOR-Syndrom · Hörverlust-Onychodystrophie-Osteodystrophie-Intelligenzminderung-Krampfanfälle-Syndrom · Schwerhörigkeit-Onychodystrophie-Syndrom, autosomal-rezessives · Syndromale Schwerhörigkeit mit Onychodystrophie und Intelligenzminderung |
| es | Síndrome DOORS | Síndrome DOOR · Síndrome de hipoacusia-onicodistrofia autosómica recesiva · Síndrome de hipoacusia-onicodistrofia-osteodistrofia-discapacidad intelectual · Síndrome de hipoacusia-onicodistrofia-osteodistrofia-discapacidad intelectual-crisis · Síndrome de hipoacusia-onicoosteodistrofia-discapacidad intelectual · Síndrome de sordera-onicodistrofia autosómica recesiva · Síndrome de sordera-onicodistrofia-osteodistrofia-discapacidad intelectual · Síndrome de sordera-onicodistrofia-osteodistrofia-discapacidad intelectual-crisis · Síndrome de sordera-onicoosteodistrofia-discapacidad intelectual |
| it | Sindrome DOORS | Sindrome perdita dell'udito-onicodistrofia-osteodistrofia-disabilità intellettiva · Sindrome perdita dell'udito-onicodistrofia-osteodistrofia-disabilità intellettiva-crisi epilettiche · Sindrome DOOR · Sindrome sordità-onico-osteodistrofia-deficit cognitivo · Sindrome sordità-onicodistrofia, autosomica recessiva · Sindrome sordità-onicodistrofia-osteodistrofia-deficit cognitivo · Sindrome sordità-onicodistrofia autosomica recessiva · Sindrome sordità-onicodistrofia-osteodistrofia-disabilità intellettiva-crisi epilettiche · Sindrome sordità-onicoosteodistrofia-disabilità intellettiva |
| nl | DOORS-syndroom | Autosomaal recessief doofheid - onychodystrofie-syndroom · DOOR-syndroom · Doofheid - onycho-osteodystrofie - intellectuele achterstand-syndroom · Doofheid - onychodystrofie - osteodystrofie - intellectuele achterstand - insulten-syndroom · Doofheid - onychodystrofie - osteodystrofie - intellectuele achterstand-syndroom |
| pt | Síndrome DOORS | Síndrome de perda auditiva-onico-osteodistrofia-perturbação do desenvolvimento intelectual · Síndrome de perda auditiva-onicodistrofia-osteodistrofia-perturbação do desenvolvimento intelectual · Síndrome de perda auditiva-onicodistrofia-osteodistrofia-perturbação do desenvolvimento intelectual-convulsões · Síndrome de surdez-onico-osteodistrofia-perturbação do desenvolvimento intelectual · Síndrome de surdez-onicodistrofia-osteodistrofia-perturbação do desenvolvimento intelectual · Síndrome de surdez-onicodistrofia-osteodistrofia-perturbação do desenvolvimento intelectual-convulsões |
| pl | Zespół DOORS | Zespół DOOR · Autosomalny recesywny zespół głuchoty i onychodystrofii · Zespół głuchoty, onycho-osteodystrofii i niepełnosprawności intelektualnej · Zespół głuchoty, onychdystrofii, osteodystrofii i niepełnosprawności intelektualnej · Zespół głuchoty, onychdystrofii, osteodystrofii, niepełnosprawności intelektualnej i napadów padaczkowych |
| cs | DOORS syndrom | DOOR syndrom · Syndrom zahrnující hluchotu, onychodystrofii, osteodystrofii a mentální retardaci · Syndrom zahrnující hluchotu, onychoosteodystrofii a mentální retardaci · Autozomálně recesivní syndrom zahrnující hluchotu a onychodystrofii |
| uk | Синдром DOORS | Синдром аутосомно-рецесивної глухоти-ніходистрофії · Аутосомно-рецесивний синдром приглухуватості-оніходистрофії · Синдром глухоти-оніходистрофії-остеодистрофії-інтелектуальної недостатності · Синдром глухоти-оніходистрофії-остеодистрофії-інтелектуальної недостатності-судом · Синдром глухоти-онкоостеодистрофії-інтелектуальної недостатності · Синдром DOOR · Синдром втрати слуху - оніходистрофії - остеодистрофіїя - інтелектуальної недостатності · Синдром втрати слуху-оніходистрофії-остеодистрофії-інтелектуальної недостатності-судом · Синдром втрати слуху-онкоостеодистрофії-інтелектуальної недостатності |
| zh | DOORS综合征 | 听力丧失-甲营养不良-骨营养不良-智力障碍-惊厥综合征 |
| tr | DOORS sendromu | DOOR sendromu · Otozomal Çekinik sağırlık-onikodistrofi sendromu · Otozomal Çekinik işitme kaybı onikodistrofi sendromu · Sağırlık-onikoosteodistrofi-zihinsel yetersizlik sendromu · İşitme kaybı-onikoosteodistrofi-zihinsel yetersizlik sendromu · Sağırlık-onikodistrofi-osteodistrofi-zihinsel yetersizlik sendromu · İşitme kaybı-onikodistrofi-osteodistrofi-zihinsel yetersizlik sendromu · Sağırlık-onikodistrofi-osteodistrofi-zihinsel yetersizlik-nöbet sendromu · İşitme kaybı-onikodistrofi-osteodistrofi-zihinsel yetersizlik-nöbetler sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 220500 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009079 | E | validated | |
| MeSH | C563052 | E | validated | |
| UMLS | C0795934 | E | validated | |
| GARD | 1685 | E | validated | |
| MedDRA | 10080835 | 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:3231Deafness-onychodystrophy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare skin diseases; rare ophthalmic disorders; rare otorhinolaryngological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1674Digitorenocerebral syndrome moved to · inactive
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP6V1B2 | Disease-causing germline mutation(s) in | Assessed | HGNC:854 | ENSG00000147416 | 606939 | 8p21.3 | ATPase H+ transporting V1 subunit B2 | 32873933[PMID] |
| TBC1D24 | Disease-causing germline mutation(s) in | Assessed | HGNC:29203 | ENSG00000162065 | 613577 | 16p13.3 | TBC1 domain family member 24 | 24291220[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
89 annotations · validated 2019-03-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0001780 | Abnormality of toe | |
| HP:0001817 | Absent fingernail | |
| HP:0000463 | Anteverted nares | |
| HP:0002353 | EEG abnormality | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001263 | Global developmental delay | |
| HP:0000343 | Long philtrum | |
| HP:0100797 | Toenail dysplasia | |
| HP:0012810 | Wide nasal base | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0010347 | Aplasia/Hypoplasia of the phalanges of the 2nd toe | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000414 | Bulbous nose | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000280 | Coarse facial features | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0008947 | Floppy infant | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0000316 | Hypertelorism | |
| HP:0001265 | Hyporeflexia | |
| HP:0012402 | Increased urine alpha-ketoglutarate concentration | |
| HP:0000294 | Low anterior hairline | |
| HP:0000369 | Low-set ears | |
| HP:0000194 | Open mouth | |
| HP:0001561 | Polyhydramnios | |
| HP:0002033 | Poor suck | |
| HP:0009237 | Short 5th finger | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0000219 | Thin upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0000729 | Autistic behavior | |
| HP:0001488 | Bilateral ptosis | |
| HP:0000248 | Brachycephaly | |
| HP:0000187 | Broad alveolar ridges | |
| HP:0000455 | Broad nasal tip | |
| HP:0005306 | Capillary hemangioma | |
| HP:0000175 | Cleft palate | |
| HP:0000851 | Congenital hypothyroidism | |
| HP:0000696 | Delayed eruption of permanent teeth | |
| HP:0001719 | Double outlet right ventricle | |
| HP:0011968 | Feeding difficulties | |
| HP:0002007 | Frontal bossing | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000675 | Macrodontia of permanent maxillary central incisor | |
| HP:0031282 | Malalignment of the great toenail | |
| HP:0000252 | Microcephaly | |
| HP:0001336 | Myoclonus | |
| HP:0000545 | Myopia | |
| HP:0000189 | Narrow palate | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000648 | Optic atrophy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000269 | Prominent occiput | |
| HP:0002098 | Respiratory distress | |
| HP:0004442 | Sagittal craniosynostosis | |
| HP:0000200 | Short lingual frenulum | |
| HP:0031423 | Small cerebellar cortex | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0000687 | Widely spaced teeth | |
| Very rare (<4-1%) | ||
| HP:0000878 | 11 pairs of ribs | |
| HP:0011409 | Abnormality of placental membranes | |
| HP:0008221 | Adrenal hyperplasia | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0011326 | Anterior plagiocephaly | |
| HP:0002139 | Arrhinencephaly | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000518 | Cataract | |
| HP:0006934 | Congenital nystagmus | |
| HP:0012725 | Cutaneous syndactyly | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0008110 | Equinovarus deformity | |
| HP:0002937 | Hemivertebrae | |
| HP:0000218 | High palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0004626 | Lumbar scoliosis | |
| HP:0002126 | Polymicrogyria | |
| HP:0010497 | Sirenomelia | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000486 | Strabismus | |
| HP:0001894 | Thrombocytosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 17994565[PMID]_24291220[PMID]_25719194[PMID]_18438887[PMID]_5516283[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79500
- This record as JSON: /data/d/79500.json