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Yao syndrome(YAOS)

MedGen UID:
934587
Concept ID:
C4310620
Disease or Syndrome
Synonym: Susceptibility to Yao syndrome
SNOMED CT: Yao syndrome (768667002); NOD2-associated autoinflammatory disease (768667002); Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease (768667002); NOD2 (nucleotide binding oligomerization domain containing 2) associated autoinflammatory disease (768667002)
 
Gene (location): NOD2 (16q12.1)
 
Monarch Initiative: MONDO:0015019
OMIM®: 617321

Definition

Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (and Shen, 2017). [from OMIM]

Additional description

From MedlinePlus Genetics
Yao syndrome (formerly called NOD2-associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). In people with Yao syndrome, part of the immune system called the innate immune response is turned on (activated) abnormally, which causes fevers and inflammation-related damage to tissues and organs. Based on this process, Yao syndrome is classified as an autoinflammatory disease. Autoinflammatory diseases are distinct from autoimmune diseases; these two groups of diseases involve abnormalities in different parts of the immune system.

The episodes of fever and inflammation associated with Yao syndrome can last for several days and occur weeks to months apart. During these episodes, most affected individuals develop reddened, inflamed areas on the skin called erythematous patches or plaques. This reddening occurs most commonly on the face, chest, and back but can also affect the arms and legs. Episodes of joint pain and inflammation similar to arthritis are common, particularly in the legs, as is swelling of the ankles and feet. Inflammation also affects the gastrointestinal system, causing attacks of abdominal pain, bloating, and cramping with diarrhea in more than half of affected individuals. Dry eyes and dry mouth (described as "sicca-like" symptoms, which refers to dryness) are reported in about half of people with this disease. Other potential signs and symptoms of Yao syndrome include mouth sores, chest pain, and enlargement of various glands.

Yao syndrome is usually diagnosed in adulthood. It is a long-lasting (chronic) disease, and episodes can recur for many years.  https://medlineplus.gov/genetics/condition/yao-syndrome

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Chest pain
MedGen UID:
2992
Concept ID:
C0008031
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Ventricular hypertrophy
MedGen UID:
87400
Concept ID:
C0340279
Disease or Syndrome
Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Reduction of total body weight.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Pleuritis
MedGen UID:
10807
Concept ID:
C0032231
Disease or Syndrome
Inflammation of the pleura.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Keratoconjunctivitis sicca
MedGen UID:
9620
Concept ID:
C0022575
Disease or Syndrome
Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.
Pericarditis
MedGen UID:
18377
Concept ID:
C0031046
Disease or Syndrome
Inflammation of the sac-like covering around the heart (pericardium).
Uveitis
MedGen UID:
52961
Concept ID:
C0042164
Disease or Syndrome
Inflammation of one or all portions of the uveal tract.
Inflammatory abnormality of the skin
MedGen UID:
849741
Concept ID:
C3875321
Disease or Syndrome
The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.
Skin rash
MedGen UID:
1830322
Concept ID:
C5779628
Sign or Symptom
A red eruption of the skin.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Xerostomia
MedGen UID:
22735
Concept ID:
C0043352
Disease or Syndrome
Dryness of the mouth due to salivary gland dysfunction.
Oral ulcer
MedGen UID:
57699
Concept ID:
C0149745
Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.

Professional guidelines

PubMed

Hua Y, Wu D, Shen M, Yu K, Zhang W, Zeng X
Semin Arthritis Rheum 2019 Dec;49(3):446-452. Epub 2019 May 11 doi: 10.1016/j.semarthrit.2019.05.002. PMID: 31155445
Yao Q, Shen B
Am J Med 2017 Mar;130(3):365.e13-365.e18. Epub 2016 Oct 28 doi: 10.1016/j.amjmed.2016.09.028. PMID: 27984003

Recent clinical studies

Etiology

Karamanakos A, Vougiouka O, Sapountzi E, Venetsanopoulou AI, Tektonidou MG, Germenis AE, Sfikakis PP, Laskari K
Front Immunol 2024;15:1342668. Epub 2024 Jan 29 doi: 10.3389/fimmu.2024.1342668. PMID: 38348033Free PMC Article
Nomani H, Deng Z, Navetta-Modrov B, Yang J, Yun M, Aroniadis O, Gorevic P, Aksentijevich I, Yao Q
Front Immunol 2023;14:1265404. Epub 2023 Oct 19 doi: 10.3389/fimmu.2023.1265404. PMID: 37928541Free PMC Article
Qin W, Wu D, Luo Y, Zhao M, Wang Y, Shi X, Zhou L, Yu W, Sun Y, Wang R, Zhang W, Liu M, Shen M
Semin Arthritis Rheum 2020 Dec;50(6):1500-1506. Epub 2020 Feb 3 doi: 10.1016/j.semarthrit.2019.12.003. PMID: 32115236
Hua Y, Wu D, Shen M, Yu K, Zhang W, Zeng X
Semin Arthritis Rheum 2019 Dec;49(3):446-452. Epub 2019 May 11 doi: 10.1016/j.semarthrit.2019.05.002. PMID: 31155445
Yang X, Wu D, Li J, Shen M, Zhang W
Clin Rheumatol 2018 Dec;37(12):3449-3454. Epub 2018 Aug 29 doi: 10.1007/s10067-018-4274-0. PMID: 30159790

Diagnosis

Nomani H, Deng Z, Navetta-Modrov B, Yang J, Yun M, Aroniadis O, Gorevic P, Aksentijevich I, Yao Q
Front Immunol 2023;14:1265404. Epub 2023 Oct 19 doi: 10.3389/fimmu.2023.1265404. PMID: 37928541Free PMC Article
Yao Q, Kontzias A
J Clin Rheumatol 2022 Jan 1;28(1):e156-e160. doi: 10.1097/RHU.0000000000001655. PMID: 33394828
Yao Q, Li E, Shen B
Autoimmunity 2019 Mar;52(2):48-56. Epub 2019 May 13 doi: 10.1080/08916934.2019.1613382. PMID: 31084224
Yang X, Wu D, Li J, Shen M, Zhang W
Clin Rheumatol 2018 Dec;37(12):3449-3454. Epub 2018 Aug 29 doi: 10.1007/s10067-018-4274-0. PMID: 30159790
Yao Q, Shen B
Am J Med 2017 Mar;130(3):365.e13-365.e18. Epub 2016 Oct 28 doi: 10.1016/j.amjmed.2016.09.028. PMID: 27984003

Therapy

Karamanakos A, Vougiouka O, Sapountzi E, Venetsanopoulou AI, Tektonidou MG, Germenis AE, Sfikakis PP, Laskari K
Front Immunol 2024;15:1342668. Epub 2024 Jan 29 doi: 10.3389/fimmu.2024.1342668. PMID: 38348033Free PMC Article
Yang X, Wu D, Li J, Shen M, Zhang W
Clin Rheumatol 2018 Dec;37(12):3449-3454. Epub 2018 Aug 29 doi: 10.1007/s10067-018-4274-0. PMID: 30159790
McDonald C, Shen M, Johnson EE, Kabi A, Yao Q
Autoimmunity 2018 Mar;51(2):53-61. Epub 2018 Feb 22 doi: 10.1080/08916934.2018.1442442. PMID: 29471675Free PMC Article
Yao Q, Shen B
Am J Med 2017 Mar;130(3):365.e13-365.e18. Epub 2016 Oct 28 doi: 10.1016/j.amjmed.2016.09.028. PMID: 27984003

Prognosis

Trueb B, Zhuang L, Keller I, Köckritz LV, Kuchen S, Dufour JF, Villiger PM
J Clin Rheumatol 2021 Dec 1;27(8S):S592-S594. doi: 10.1097/RHU.0000000000000963. PMID: 30601168
Hua Y, Wu D, Shen M, Yu K, Zhang W, Zeng X
Semin Arthritis Rheum 2019 Dec;49(3):446-452. Epub 2019 May 11 doi: 10.1016/j.semarthrit.2019.05.002. PMID: 31155445
Yao Q, Shen B
Am J Med 2017 Mar;130(3):365.e13-365.e18. Epub 2016 Oct 28 doi: 10.1016/j.amjmed.2016.09.028. PMID: 27984003

Clinical prediction guides

Karamanakos A, Vougiouka O, Sapountzi E, Venetsanopoulou AI, Tektonidou MG, Germenis AE, Sfikakis PP, Laskari K
Front Immunol 2024;15:1342668. Epub 2024 Jan 29 doi: 10.3389/fimmu.2024.1342668. PMID: 38348033Free PMC Article
Qin W, Wu D, Luo Y, Zhao M, Wang Y, Shi X, Zhou L, Yu W, Sun Y, Wang R, Zhang W, Liu M, Shen M
Semin Arthritis Rheum 2020 Dec;50(6):1500-1506. Epub 2020 Feb 3 doi: 10.1016/j.semarthrit.2019.12.003. PMID: 32115236
Hua Y, Wu D, Shen M, Yu K, Zhang W, Zeng X
Semin Arthritis Rheum 2019 Dec;49(3):446-452. Epub 2019 May 11 doi: 10.1016/j.semarthrit.2019.05.002. PMID: 31155445

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