ORPHA:1946
Amelocerebrohypohidrotic syndrome
Synonyms: Epilepsy-dementia-amelogenesis imperfecta syndrome · Kohlschütter-Tönz syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Amelocerebrohypohidrotic syndrome | Epilepsy-dementia-amelogenesis imperfecta syndrome · Kohlschütter-Tönz syndrome |
| fr | Syndrome amélocérébrohypohidrotique | Syndrome d'épilepsie-démence-amélogenèse imparfaite · Syndrome de Kohlschütter-Tönz |
| de | Amelo-zerebro-hypohidrotisches Syndrom | Epilepsie - Demenz - Amelogenesis imperfecta · Kohlschütter-Tonz-Syndrom |
| es | Síndrome amelo-cerebro-hipohidrótico | Síndrome de Kohlschütter-Tonz |
| it | Sindrome amelo-cerebro-ipoidrotica | Epilessia - demenza - amelogenesi imperfetta · Sindrome di Kohlschutter-Tonz |
| nl | Amelo-cerebro-hypohidrotisch syndroom | Epilepsie - dementie - amelogenesis imperfecta-syndroom · Syndroom van Kohlschutter-Tonz |
| pt | Síndrome amelo-cerebro-hipohidrótico | Síndrome Kohlschutter-Tonz · Síndrome de epilepsia-demência-amelogénese imperfeita |
| pl | Zespół szkliwno-mózgowo-niepotliwy | Padaczka - otępienie - amelogenesis imperfecta · Zespół Kohlschuttera i Tonza |
| cs | Amelocerebrohypohidrotický syndrom | Syndrom zahrnující epilepsii, demenci a amelogenesis imperfecta · Kohlschutterův-Tonzův syndrom · Kohlschutter-Tonzův syndrom |
| uk | Амелоцереброгіпогідротичний синдром | Синдром недосконалого амелогенезу з епілепсією та деменцією · Синдром Кольшюттера-Тенца |
| zh | 釉质形成-脑-少汗综合征 | 癫痫-痴呆-牙釉质形成不良综合征 |
| tr | Ameloserebrohipohidrotik sendromu | Kohlschütter-Tönz sendromu · Epilepsi-demans-amelogenezis imperfekta sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226750 | E | validated | |
| ICD-10 | G40.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009185 | E | validated | |
| MeSH | C537213 | E | validated | |
| UMLS | C0406740 | E | validated | |
| GARD | 3128 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ROGDI | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29478 | ENSG00000067836 | 614574 | 16p13.3 | rogdi atypical leucine zipper | 22424600[PMID] |
| SLC13A5 | Disease-causing germline mutation(s) in | Assessed | HGNC:23089 | ENSG00000141485 | 608305 | 17p13.1 | solute carrier family 13 member 5 | 27600704[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011073 | Abnormality of dental color | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000705 | Amelogenesis imperfecta | |
| HP:0000726 | Dementia | |
| HP:0002376 | Developmental regression | |
| HP:0002353 | EEG abnormality | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001268 | Mental deterioration | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0006286 | Yellow-brown discoloration of the teeth | |
| Frequent (79-30%) | ||
| HP:0000966 | Hypohidrosis | |
| Occasional (29-5%) | ||
| HP:0000238 | Hydrocephalus | |
| HP:0004322 | Short stature | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1946
- This record as JSON: /data/d/1946.json