SHORT syndrome
MONDO:0010026Mondo
Findings
No curated finding names SHORT syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
60 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.
- Absence of subcutaneous fatHPOHP:0007485
- 8 of 8 reported patients
- Delayed eruption of teethHPOHP:0000684
- 6 of 6 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 3 of 3 reported patients
- Insulin resistanceHPOHP:0000855
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- 18 of 18 reported patients
- MicrognathiaHPOHP:0000347
- 9 of 9 reported patients
- Ovarian cystHPOHP:0000138
- 3 of 3 reported patients
- 3 of 3 reported patients · Female
- Reduced subcutaneous adipose tissueHPOHP:0003758
- 8 of 8 reported patients
- Short chinHPOHP:0000331
- 18 of 18 reported patients
- Triangular faceHPOHP:0000325
- 8 of 8 reported patients
- Occasional (5% to 29% of cases)
- Underdeveloped nasal alaeHPOHP:0000430
- 9 of 9 reported patients
- Prominent foreheadHPOHP:0011220
- 8 of 9 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 48
- Midface retrusionHPOHP:0011800
- 14 of 16 reported patients
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- Very frequent (80% to 99% of cases)
- High hypermetropiaHPOHP:0008499
- 4 of 5 reported patients
- HypermetropiaHPOHP:0000540
- 4 of 5 reported patients
- Hypoplasia of the irisHPOHP:0007676
- Very frequent (80% to 99% of cases)
- Inguinal herniaHPOHP:0000023
- 0 of 8 reported patients
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.
- PIK3R1HGNC:8979
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- developmental anomaly of metabolic origin
- eye disorder
- hereditary lipodystrophy
- multiple congenital anomalies/dysmorphic syndrome without intellectual disability
- multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- PIK3R1-related immunodeficiency and SHORT syndrome
- syndromic disease
Other names
3 names
Resolves to: SHORT syndrome
- Also called
- Aarskog-Ose-Pande syndromelipodystrophy-Rieger anomaly-diabetes syndromeRieger anomaly-partial lipodystrophy syndrome