ORPHA:100996
Kjellin syndrome
Synonyms: Autosomal recessive spastic paraplegia type 15 · Hereditary spastic paraparesis type 15 · SPG15 · Spastic paraplegia-retinal degeneration syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kjellin syndrome | Autosomal recessive spastic paraplegia type 15 · Hereditary spastic paraparesis type 15 · SPG15 · Spastic paraplegia-retinal degeneration syndrome |
| fr | Syndrome de Kjellin | Paraplégie spastique autosomique récessive type 15 · SPG15 · Syndrome de paraplégie spastique-dégénérescence rétinienne |
| de | Kjellin-Syndrom | SPG15 · Spastische Paraparese, hereditäre, Typ 15 · Spastische Paraplegie, autosomal-rezessive, Typ 15 · Spastische Paraplegie-Netzhautdegeneration-Syndrom |
| es | Síndrome de Kjellin | Paraplejía espástica autosómica recesiva tipo 15 · SPG15 · Síndrome de paraplejía espástica-degeneración retiniana · Paraplejía espástica hereditaria tipo 15 |
| it | Sindrome di Kjellin | Paraparesi spastica ereditaria, tipo 15 · Paraplegia spastica autosomica recessiva tipo 15 · SPG15 · Sindrome paraplegia spastica-degenerazione retinica |
| nl | Syndroom van Kjellin | Autosomaal recessieve spastische paraplegie type 15 · Hereditaire spastische paraparese type 15 · SPG15 · Spastische paraplegie - retinadegeneratie-syndroom |
| pt | Síndrome Kjellin | Síndrome de paraplegia espástica-degeneração retiniana · Paraparesia espástica hereditária tipo 15 · SPG15 · Paraparesia espástica autossómica recessiva tipo 15 |
| pl | Zespół Kjellina | Dziedziczna parapareza spastyczna typu 15 · Paraplegia spastyczna - zwyrodnienie rogówki · SPG15 · Zespół Kjellina |
| cs | Autozomálně recesivní spastická paraplegie, typ 15 | Hereditární spastická paraparéza, typ 15 · SPG15 · Syndrom zahrnující spastickou paraplegii a degeneraci sítnice · Kjellinův syndrom |
| uk | Аутосомно-рецесивна спастична параплегія, тип 15 | Спадковий спастичний парапарез типу 15 · Синдром Кєлліна · Синдром спастичної параплегії - дегенерації сітківки · SPG15 |
| zh | 常染色体隐性遗传痉挛性截瘫15型 | 痉挛性截瘫-视网膜退行性综合征 |
| tr | Otozomal resesif spastik parapleji tip 15 | SPG15 · Kjellin sendromu · Kalıtsal spastik paraparezi tip 15 · Spastik parapleji-retinal dejenerasyon sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270700 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0010044 | E | validated | |
| MeSH | C536642 | E | validated | |
| UMLS | C1849128 | E | validated | |
| GARD | 9581 | 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 (3):
- ORPHA:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:716427Rare disorder with progressive predominantly macular disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZFYVE26 | Disease-causing germline mutation(s) in | Assessed | HGNC:20761 | ENSG00000072121 | 612012 | 14q24.1 | zinc finger FYVE-type containing 26 | 18394578[PMID]_19805727[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| 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
38 annotations · validated 2018-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002079 | Hypoplasia of the corpus callosum | |
| Frequent (79-30%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0003487 | Babinski sign | |
| HP:0100543 | Cognitive impairment | |
| HP:0030892 | Deep cerebral white matter hyperdensities | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0001260 | Dysarthria | |
| HP:0000009 | Functional abnormality of the bladder | |
| HP:0001288 | Gait disturbance | |
| HP:0001249 | Intellectual disability | |
| HP:0008969 | Leg muscle stiffness | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001324 | Muscle weakness | |
| HP:0000639 | Nystagmus | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0007024 | Pseudobulbar paralysis | |
| HP:0012045 | Retinal flecks | |
| HP:0001258 | Spastic paraplegia | |
| HP:0001257 | Spasticity | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0006986 | Upper limb spasticity | |
| HP:0030506 | Yellow/white lesions of the retina | |
| Occasional (29-5%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0000708 | Atypical behavior | |
| HP:0000726 | Dementia | |
| HP:0000819 | Diabetes mellitus | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002145 | Frontotemporal dementia | |
| HP:0002378 | Hand tremor | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0001761 | Pes cavus | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 16217069[PMID]_17661097[PMID]_18098276[PMID]_19805727[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100996
- This record as JSON: /data/d/100996.json