ORPHA:3220
Deafness-enamel hypoplasia-nail defects syndrome
Synonyms: Hearing loss-enamel hypoplasia-nail defects syndrome · Heimler syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-enamel hypoplasia-nail defects syndrome | Hearing loss-enamel hypoplasia-nail defects syndrome · Heimler syndrome |
| fr | Syndrome de surdité-hypoplasie de l'émail-anomalie des ongles | Syndrome de Heimler |
| de | Schwerhörigkeit-Schmelzhypoplasie-Nageldefekte-Syndrom | Heimler-Syndrom |
| es | Síndrome de sordera-hipoplasia del esmalte-anomalías en las uñas | Síndrome de hipoacusia-hipoplasia del esmalte-anomalías en las uñas |
| it | Sindrome sordità-ipoplasia dello smalto-difetti ungueali | |
| nl | Doofheid - glazuurhypoplasie - nageldefecten-syndroom | Syndroom van Heimler |
| pt | Síndrome de surdez-hipoplasia do esmalte-defeitos ungueais | Síndrome Heimler · Síndrome de perda auditiva-hipoplasia do esmalte-defeitos ungueais |
| pl | Głuchota - hipoplazja szkliwa - wady paznokci | Zespół Heimlera |
| cs | Syndrom zahrnující hluchotu, hypoplázii skloviny a defekty nehtů | Heimlerův syndrom |
| uk | Синдром глухоти-гіпоплазії емалі-дефектів нігтів | Синдром втрати слуху-гіпоплазії емалі-дефектів нігтів · Синдром Геймлера |
| zh | 耳聋-牙釉质发育不全-指甲缺损综合征 | 听力丧失-牙釉质发育不全-甲缺损综合征 |
| tr | Sağırlık-mine hipoplazisi-tırnak defektleri sendromu | Heimler sendromu · İşitme kaybı-enamel hipoplazisi-tırnak defektleri sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 234580 | E | validated | |
| OMIM | 616617 | BTNT | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0100229 | E | validated | |
| MeSH | C535994 | E | validated | |
| UMLS | C1856186 | E | validated | |
| GARD | 1687 | 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 (4):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PEX1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8850 | ENSG00000127980 | 602136 | 7q21.2 | peroxisomal biogenesis factor 1 | 26387595[PMID] |
| PEX6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8859 | ENSG00000124587 | 601498 | 6p21.1 | peroxisomal biogenesis factor 6 | 26387595[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26387595[PMID]_27633571[PMID]_27302843[PMID] |
| Cases/families | 15 families | Worldwide | Family(ies) | Validated | 26387595[PMID]_27633571[PMID]_27302843[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.
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HPO phenotypes
33 annotations · validated 2017-10-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0011362 | Abnormal hair quantity | |
| HP:0000614 | Abnormal nasolacrimal system morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0100643 | Abnormality of nail color | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000819 | Diabetes mellitus | |
| HP:0003241 | External genital hypoplasia | |
| HP:0000365 | Hearing impairment | |
| HP:0000135 | Hypogonadism | |
| HP:0001249 | Intellectual disability | |
| HP:0003777 | Pili torti | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000679 | Taurodontia | |
| HP:0045074 | Thin eyebrow | |
| Frequent (79-30%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0001176 | Large hands | |
| HP:0000786 | Primary amenorrhea | |
| HP:0000311 | Round face | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002514 | Cerebral calcification | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0009890 | High anterior hairline | |
| HP:0001265 | Hyporeflexia | |
| HP:0008064 | Ichthyosis | |
| HP:0010547 | Muscle flaccidity | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000763 | Sensory neuropathy | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 2063923[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3220
- This record as JSON: /data/d/3220.json