Polyendocrine-polyneuropathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polyendocrine-polyneuropathy syndrome | |
| fr | Syndrome de polyendocrinopathie-polyneuropathie | |
| de | Polyendokrine Polyneuropathie-Syndrom | |
| es | Síndrome poliendocrino-polineuropatía | |
| it | Sindrome poliendocrina-polineuropatia | |
| nl | Polyendocrinopathie - polyneuropathie-syndroom | |
| pt | Síndrome de polineuropatia poliendócrina | |
| pl | Zespół poliendokrynopatii i polineuropatii | |
| cs | Polyendokrinní-polyneuropatický syndrom | |
| uk | Синдром поліендокринно-полінейропатії | |
| zh | 多内分泌腺-多神经累及综合征 | |
| tr | Poliendokrin-polinöropati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616113 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| MONDO | 0014497 | E | validated | |
| UMLS | C4015261 | 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 (5):
- ORPHA:140459Autosomal recessive hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:181381Other rare diabetes mellitus
rare endocrine diseases - ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DMXL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2938 | ENSG00000104093 | 612186 | 15q21.2 | Dmx like 2 | 25248098[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 25248098[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25248098[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
23 annotations · validated 2019-12-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001596 | Alopecia | |
| HP:0001251 | Ataxia | |
| HP:0030341 | Decreased circulating follicle stimulating hormone concentration | |
| HP:0030344 | Decreased circulating luteinizing hormone level | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0008734 | Decreased testicular size | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0100287 | EMG: slow motor conduction | |
| HP:0001943 | Hypoglycemia | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001761 | Pes cavus | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001730 | Progressive hearing impairment | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0005978 | Type II diabetes mellitus | |
| Occasional (29-5%) | ||
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0011787 | Central hypothyroidism | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0040216 | Hypoinsulinemia | |
Annotation source: 25248098[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/453533
- This record as JSON: /data/d/453533.json