Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Synonyms: Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome · Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome · Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome |
| fr | Syndrome de diabète sucré juvénile-neurodégénérescence centrale et périphérique | Syndrome d'ataxie cérébelleuse et périphérique combinée-surdité-diabète sucré |
| de | Juveniler Diabetes mellitus-zentrale und periphere Neurodegeneration-Syndrom | Kombinierte zerebelläre und periphere Ataxie-Hörverlust-Diabetes mellitus-Syndrom |
| es | Síndrome de diabetes mellitus de inicio juvenil-neurodegeneración central y periférica | Síndrome de ataxia cerebelosa y periférica combinada-hipoacusia-diabetes mellitus · Síndrome de ataxia cerebelosa y periférica combinada-sordera-diabetes mellitus |
| it | Sindrome diabete mellito ad esordio giovanile-neurodegenerazione centrale e periferica | Sindrome atassia cerebellare e periferica combinata-sordità-diabete mellito |
| nl | Diabetes mellitus - gehoorverlies - centrale en perifere neurodegeneratie-syndroom met juveniele aanvang | Gecombineerde cerebellaire en perifere ataxie - gehoorverlies - diabetes mellitus-syndroom |
| pt | Síndrome de diabetes mellitus de início juvenil-neurodegenerescência central e periférica | |
| pl | Zespół cukrzycy o początku w wieku młodzieńczym z ośrodkową i obwodową neurodegeneracją | Zespół złożonej ataksji móżdżkowej i obwodowej, utraty słuchu i cukrzycy |
| cs | Syndrom zahrnující juvenilní diabetes mellitus a centrální a periferní neurodegeneraci | Syndrom zahrnující kombinovanou mozečkovou a periferní ataxii, ztrátu sluchu a diabetes mellitus |
| uk | Синдром ювенільного цукрового діабету-центральної та периферичної нейродегенерації | Поєднання мозочкової та периферичної атаксії-глухоти-цукрового діабету · Поєднання мозочкової та периферичної атаксії-втрати слуху-цукрового діабету |
| zh | 青少年型糖尿病合并中枢和外周神经系统退行性变 | 小脑和周围性联合共济失调-耳聋-糖尿病综合征 |
| tr | Jüvenil başlangıçlı diabetes mellitus-merkezi ve periferik nörodejenerasyon sendromu | Kombine serebellar ve periferik ataksi-sağırlık-diabetes mellitus sendromu · Kombine serebellar ve periferik ataksi-işitme kaybı-diabetes mellitus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616192 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | not yet validated |
| ICD-11 | 5A13.0 | NTBT | attributed | validated |
| MONDO | 0014523 | E | validated | |
| UMLS | C4015436 | 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:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:181381Other rare diabetes mellitus
rare endocrine diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNAJC3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9439 | ENSG00000102580 | 601184 | 13q32.1 | DnaJ heat shock protein family (Hsp40) member C3 | 25466870[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 25466870[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25466870[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
15 annotations · validated 2018-03-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002522 | Areflexia of lower limbs | |
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0004325 | Decreased body weight | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002066 | Gait ataxia | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0010871 | Sensory ataxia | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001256 | Intellectual disability, mild | |
Annotation source: 15793246[PMID]_25466870[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/445062
- This record as JSON: /data/d/445062.json