Khan-Khan-Katsanis syndrome
MONDO:0032764Mondo
Findings
No curated finding names Khan-Khan-Katsanis 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
- Congenital onset
HPO, annotations 2026-09-02
Features
50 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.
- HydronephrosisHPOHP:0000126
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Renal hypoplasiaHPOHP:0000089
- 2 of 2 reported patients
- Sacral dimpleHPOHP:0000960
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Visual impairmentHPOHP:0000505
- 2 of 2 reported patients
- Absent speechHPOHP:0001344
- 1 of 2 reported patients
- AnemiaHPOHP:0001903
- 1 of 2 reported patients
- Bilateral superior vena cava with no bridging veinHPOHP:0011668
- 1 of 2 reported patients
- BuphthalmosHPOHP:0000557
- 2 of 4 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 2 reported patients
- ClinodactylyHPOHP:0030084
- 1 of 2 reported patients
Show the remaining 38
- ColpocephalyHPOHP:0030048
- 1 of 2 reported patients
- Corneal scarringHPOHP:0000559
- 1 of 2 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 2 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 1 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 2 reported patients
- Delayed closure of the anterior fontanelleHPOHP:0001476
- 1 of 2 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.
- NCAPG2HGNC:21904
- Strong · G2P · Autosomal recessive · 2019
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019
- Limited · ClinGen · Autosomal recessive · 2023
- Limited · Illumina · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of