ORPHA:480
Kearns-Sayre syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Mitochondrial inheritance, Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kearns-Sayre syndrome | |
| fr | Syndrome de Kearns-Sayre | |
| de | Kearns-Sayre-Syndrom | |
| es | Síndrome de Kearns-Sayre | |
| it | Sindrome di Kearns-Sayre | |
| nl | Syndroom van Kearns-Sayre | |
| pt | Síndrome Kearns-Sayre | |
| pl | Zespół Kearnsa i Sayre'a | |
| cs | Kearnsův-Sayreův syndrom | Kearns-Sayreův syndrom |
| uk | Синдром Кернса-Сейра | |
| zh | Kearns-Sayre综合征 | |
| tr | Kearns-Sayre sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 530000 | E | validated | |
| ICD-10 | H49.8 | NTBT | inclusion | validated |
| ICD-11 | 9C82.0 | NTBT | index | validated |
| MONDO | 0010787 | E | validated | |
| MeSH | D007625 | E | validated | |
| UMLS | C0022541 | E | validated | |
| GARD | 6817 | E | validated | |
| MedDRA | 10048804 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (11):
- ORPHA:217613Mitochondrial disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:225703Mitochondrial disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:254767Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:522522Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
rare genetic diseases - ORPHA:519347Rare neuromuscular disorder with ocular motility/alignment anomaly
rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:181402Syndrome with hypoparathyroidism
rare genetic diseases; rare endocrine diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3390Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome moved to · inactive
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-ATP8 | Candidate gene tested in | Not yet assessed | HGNC:7415 | ENSG00000228253 | 516070 | mitochondria | mitochondrially encoded ATP synthase membrane subunit 8 | |
| MT-TL1 | Candidate gene tested in | Not yet assessed | HGNC:7490 | ENSG00000209082 | 590050 | mitochondria | mitochondrially encoded tRNA-Leu (UUA/G) 1 | |
| RRM2B | Disease-causing germline mutation(s) in | Assessed | HGNC:17296 | ENSG00000048392 | 604712 | 8q22.3 | ribonucleotide reductase regulatory TP53 inducible subunit M2B | 21378381[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | [EXPERT]_17886296[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.8 / 100 000 | Finland | Value and class | Validated | 15781811[PMID] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | United Kingdom | Value and class | Validated | 17886296[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Israel | Value and class | Validated | 33239050[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.
6
HPO phenotypes
30 annotations · validated 2024-03-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000580 | Pigmentary retinopathy | |
| HP:0000590 | Progressive external ophthalmoplegia | |
| HP:0001709 | Third degree atrioventricular block | |
| Frequent (79-30%) | ||
| HP:0000830 | Anterior hypopituitarism | |
| HP:0001251 | Ataxia | |
| HP:0003457 | EMG abnormality | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0004622 | Progressive intervertebral space narrowing | |
| HP:0000508 | Ptosis | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0012622 | Chronic kidney disease | |
| HP:0100543 | Cognitive impairment | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000726 | Dementia | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002015 | Dysphagia | |
| HP:0003546 | Exercise intolerance | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0001324 | Muscle weakness | |
| HP:0000467 | Neck muscle weakness | |
| HP:0001947 | Renal tubular acidosis | |
| HP:0004322 | Short stature | |
| HP:0001337 | Tremor | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 29493966[PMID]_20301382[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480
- This record as JSON: /data/d/480.json