polyendocrine-polyneuropathy syndrome
MONDO:0014497Mondo
Findings
No curated finding names polyendocrine-polyneuropathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Central hypothyroidismHPOHP:0011787
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Decreased testicular sizeHPOHP:0008734
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Elevated hemoglobin A1cHPOHP:0040217
- 3 of 3 reported patients
- HypoglycemiaHPOHP:0001943
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- PolyneuropathyHPOHP:0001271
- 3 of 3 reported patients
- Postnatal growth retardationHPOHP:0008897
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 18
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Type I diabetes mellitusHPOHP:0100651
- 3 of 3 reported patients
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- Decreased circulating follicle stimulating hormone concentrationHPOHP:0030341
- Frequent (30% to 79% of cases)
- Decreased circulating luteinizing hormone levelHPOHP:0030344
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DMXL2HGNC:2938
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020