Enamel-renal syndrome
Synonyms: Amelogenesis imperfecta-nephrocalcinosis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Enamel-renal syndrome | Amelogenesis imperfecta-nephrocalcinosis syndrome |
| fr | Syndrome d'amélogenèse imparfaite-néphrocalcinose | Syndrome ERS · Syndrome rein-émail |
| de | Zahnschmelz-Niere-Syndrom | Amelogenesis imperfecta-Nephrokalzinose-Syndrom |
| es | Síndrome esmalte-renal | Síndrome de amelogénesis imperfecta-nefrocalcinosis |
| it | Sindrome smalto-renale | |
| nl | Tandglazuur - nieren-syndroom | Amelogenesis imperfecta - nefrocalcinose-syndroom |
| pt | Síndrome esmalte-renal | Amelogénese imperfeita-nefrocalcinose |
| pl | Zespół wrodzonego niedorozwóju szkliwa i nefrokalcynozy | = en |
| cs | Syndrom zahrnující amelogenesis imperfecta a nefrokalcinózu | = en |
| uk | Емалево-нирковий синдром | Синдром недосконалого амелогенезу - нефрокальциноз |
| zh | 牙釉质-肾病综合征 | 牙釉质发育不全-肾病综合征 |
| tr | Emaye-böbrek sendromu | Amelojenez imperfekta-nefrokalsinoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 204690 | E | validated | |
| ICD-10 | K00.5 | NTBT | attributed | validated |
| ICD-11 | LA30.6 | NTBT | index | validated |
| MONDO | 0008771 | E | validated | |
| MeSH | C538241 | E | validated | |
| UMLS | C2931783 | E | validated | |
| GARD | 646 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- 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:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:171836Amelogenesis imperfecta-gingival hyperplasia syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FAM20A | Disease-causing germline mutation(s) in | Assessed | HGNC:23015 | ENSG00000108950 | 611062 | 17q24.2 | FAM20A golgi associated secretory pathway pseudokinase | 23434854[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 21212699[PMID] | |
| 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.
HPO phenotypes
26 annotations · validated 2025-07-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
| HP:0011073 | Abnormality of dental color | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000705 | Amelogenesis imperfecta | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000212 | Gingival overgrowth | |
| HP:0031428 | Increased circulating osteocalcin level | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000112 | Nephropathy | |
| HP:0006286 | Yellow-brown discoloration of the teeth | |
| Frequent (79-30%) | ||
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0000805 | Enuresis | |
| HP:0000169 | Gingival fibromatosis | |
| HP:0003127 | Hypocalciuria | |
| HP:0012405 | Hypocitraturia | |
| HP:0012365 | Hypophosphaturia | |
| HP:0011079 | Impacted tooth | |
| HP:0004727 | Impaired renal concentrating ability | |
| HP:0003771 | Pulp calcification | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0009102 | Anterior open-bite malocclusion | |
| HP:0012101 | Decreased serum creatinine | |
| HP:0000158 | Macroglossia | |
| HP:0000704 | Periodontitis | |
| HP:0009804 | Tooth agenesis | |
| Very rare (<4-1%) | ||
| HP:0011069 | Supernumerary tooth | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 40089179[PMID]_12597691[PMID]_3872071[PMID]_21549343[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1031
- This record as JSON: /data/d/1031.json