syndromic multisystem autoimmune disease due to ITCH deficiency
MONDO:0013245Mondo
Findings
No curated finding names syndromic multisystem autoimmune disease due to ITCH deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
65 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.
- Abnormal facial shapeHPOHP:0001999
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- CamptodactylyHPOHP:0012385
- 11 of 11 reported patients
- Occasional (5% to 29% of cases)
- Choanal atresiaHPOHP:0000453
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Convex nasal ridgeHPOHP:0000444
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Failure to thrive in infancyHPOHP:0001531
- 10 of 10 reported patients · Infantile onset
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 11 of 11 reported patients
- Occasional (5% to 29% of cases)
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Hallux valgusHPOHP:0001822
- 1 of 1 reported patient
Show the remaining 53
- Hashimoto thyroiditisHPOHP:0000872
- 1 of 1 reported patient
- HypersplenismHPOHP:0001971
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased vertebral heightHPOHP:0004570
- 1 of 1 reported patient
- Limited elbow extensionHPOHP:0001377
- 1 of 1 reported patient
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.
- ITCHHGNC:13890
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021