Hardikar syndrome
Synonyms: Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR · MED12-related Hardikar syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hardikar syndrome | Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR · MED12-related Hardikar syndrome |
| fr | Syndrome d'Hardikar | Syndrome de cholestase-rétinopathie pigmentaire-fente palatine |
| de | Hardikar-Syndrom | Cholestase-Pigmentretinopathie-Gaumenspalte-Syndrom · HDKR · MED12-assoziiertes Hardikar-Syndrom |
| es | Síndrome de Hardikar | HDKR · Síndrome de Hardikar asociado a MED12 · Síndrome de colestasis-retinopatía pigmentaria-paladar hendido |
| it | Sindrome di Hardikar | HDKR · Sindrome colestasi-retinopatia pigmentata-palatoschisi · Sindrome di Hardikar correlata a MED12 |
| nl | Syndroom van Hardikar | Cholestase - pigmentretinopathie - gespleten gehemelte-syndroom · HDKR · MED12-gerelateerd syndroom van Hardikar |
| pt | Síndrome Hardikar | HDKR · Síndrome Hardikar MED12-relacionada · Síndrome de colestase-retinopatia pigmentosa-fenda palatina |
| pl | Cholestaza - retinopatia barwnikowa - rozszczep podniebienia | Zespół Hardikara |
| cs | Syndrom zahrnující cholestázu, pigmentovou retinopatii a rozštěp patra | Hardikarův syndrom |
| uk | Синдром Хардікара | Синдром холестазу-пігментної ретинопатії-розщеплення піднебіння · HDKR · Синдром Хардікара, повязаний з MED12 |
| zh | 胆汁淤塞-色素性视网膜病-腭裂综合征 | Hardikar 综合征 |
| tr | Kolestaz-pigmenter retinopati-yarık damak sendromu | Hardikar sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301068 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0012997 | E | validated | |
| MeSH | C535632 | E | validated | |
| UMLS | C0795969 | E | validated | |
| GARD | 9280 | 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 (2):
- ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:716342Rare disorder with progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MED12 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11957 | ENSG00000184634 | 300188 | Xq13.1 | mediator complex subunit 12 | 33244166[PMID]_35385210[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 22243360[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22243360[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.
HPO phenotypes
24 annotations · validated 2025-05-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000202 | Orofacial cleft | |
| HP:0004467 | Preauricular pit | |
| HP:0000384 | Preauricular skin tag | |
| Frequent (79-30%) | ||
| HP:0012437 | Abnormal gallbladder morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0004297 | Abnormality of the biliary system | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001680 | Coarctation of aorta | |
| HP:0100890 | Cyst of the ductus choledochus | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0002023 | Anal atresia | |
| HP:0004942 | Aortic aneurysm | |
| HP:0001631 | Atrial septal defect | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002019 | Constipation | |
| HP:6000413 | Ectopic ureteral orifice | |
| HP:0000126 | Hydronephrosis | |
| HP:0002245 | Meckel diverticulum | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000148 | Vaginal atresia | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 39045790[PMID]_35385210[PMID]_20301719[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1415
- This record as JSON: /data/d/1415.json