ORPHA:289390

Primary Sjögren disease

Synonyms: Primary SjD · Primary Sjögren syndrome

Type: Disease
Group: Disorder
Inheritance: Not applicable
Age of onset: Adult
Status: active

A rare systemic autoimmune disease characterized by exocrine gland dysfunction, resulting predominately in keratoconjunctivitis sicca and xerostomia, but also affecting exocrine glands of the skin, as well as respiratory, urogenital, and digestive tract. Extraglandular manifestations include arthritis, interstitial lung disease, renal disease, and peripheral neuropathy. The disease is accompanied by a substantially increased risk to develop B-cell non-Hodgkin lymphoma, especially MALT (mucosa-associated lymphoid tissue) lymphoma.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Primary Sjögren disease	Primary SjD · Primary Sjögren syndrome
fr	Syndrome de Gougerot-Sjögren primitif	Syndrome de Gougerot-Sjögren primaire · Syndrome de Sjögren primaire · Syndrome de Sjögren primitif
de	Sjögren-Syndrom, primäres	pSS
es	Enfermedad de Sjögren primaria	Síndrome de Sjögren primario
it	Sindrome di Sjögren primitiva	Sindrome di Sjögren-Gougerot primitiva
nl	Primaire ziekte van Sjögren	Primair SjD · Primair syndroom van Sjögren
pt	Doença Sjögren primária	SjD primária · Síndrome Sjögren primária
pl	Pierwotny zespół Sjögrena	Pierwotny zespół Sjögrena-Gougerota
cs	Primární Sjögrenův syndrom	Primary Sjögren-Gougerot syndrome
uk	Первинний синдром Шегрена	Первинний синдром Шегрена-Гужеро
zh	原发性干燥综合征	原发性干燥综合征
tr	Primer Sjögren sendromu	Primer Sjögren-Gougerot sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	270150	E		validated
ICD-10	M35.0	NTBT	specific	validated
ICD-11	4A43.20	E	specific	validated
MONDO	0010030	E		validated
UMLS	C0151449	E		validated
GARD	10252	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98023Rare systemic or rheumatologic disease

Parents in the classifications (2):

ORPHA:101944Rare pulmonary disease
rare respiratory diseases
ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:93566OBSOLETE: Pediatric Sjögren syndrome referred to · inactive

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

14 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-5 / 10 000	11.343 / 100 000	France	Value and class	Validated	23983119[PMID]_25387476[PMID]
Point prevalence	1-5 / 10 000	48.99 / 100 000	Europe	Value and class	Validated	25387476[PMID]
Point prevalence	6-9 / 10 000	86.398 / 100 000	Greece	Value and class	Validated	16332955[PMID]_25387476[PMID]
Point prevalence	1-5 / 10 000	49.745 / 100 000	Norway	Value and class	Validated	21231797[PMID]_25387476[PMID]
Point prevalence	1-5 / 10 000	45.47 / 100 000	Denmark	Value and class	Validated	17582741[PMID]_25387476[PMID]
Annual incidence	1-9 / 100 000	3.95 / 100 000	United States	Value and class	Validated	11393497[PMID]
Point prevalence	1-5 / 10 000	37.15 / 100 000	Taiwan, Province of China	Value and class	Validated	22899470[PMID]_23916348[PMID]_24938285[PMID]
Point prevalence	>1 / 1000	207.83 / 100 000	Turkey	Value and class	Validated	18422594[PMID]_24938285[PMID]
Point prevalence	1-5 / 10 000	30.91 / 100 000	Italy	Value and class	Validated	22396771[PMID]_24938285[PMID]
Point prevalence	>1 / 1000	165.98 / 100 000	Brazil	Value and class	Validated	23588513[PMID]_24938285[PMID]
Annual incidence	1-9 / 100 000	9.5 / 100 000	Taiwan, Province of China	Value and class	Validated	21239759[PMID]_23916348[PMID]_22899470[PMID]_24938285[PMID]
Annual incidence	1-9 / 100 000	5.3 / 100 000	Greece	Value and class	Validated	16332955[PMID]_24938285[PMID]
Annual incidence	1-9 / 100 000	3.9 / 100 000	Slovenia	Value and class	Validated	15194588[PMID]_24938285[PMID]
Annual incidence	1-9 / 100 000	6.92 / 100 000	Worldwide	Value and class	Validated	24938285[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

82 annotations · validated 2020-02-19

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001097	Keratoconjunctivitis sicca
HP:0000217	Xerostomia
Frequent (79-30%)
HP:0000077	Abnormality of the kidney
HP:0003011	Abnormality of the musculature
HP:0000707	Abnormality of the nervous system
HP:0000951	Abnormality of the skin
HP:0033555	Anti-Ro/SS-A antibody positivity
HP:0034066	Anti-carbonic anhydrase VI antibody positivity
HP:0034069	Anti-parotid secretory protein antibody positivity
HP:0034064	Anti-salivary protein antibody positivity
HP:0000739	Anxiety
HP:0002829	Arthralgia
HP:0012532	Chronic pain
HP:0004431	Complement deficiency
HP:0012378	Fatigue
HP:0011850	Parotitis
HP:0005195	Polyarticular arthropathy
HP:0001970	Tubulointerstitial nephritis
HP:0031950	Usual interstitial pneumonia
Occasional (29-5%)
HP:0001317	Abnormal cerebellum morphology
HP:0006530	Abnormal pulmonary interstitial morphology
HP:0031983	Abnormal pulmonary thoracic imaging finding
HP:0001871	Abnormality of blood and blood-forming tissues
HP:0410008	Abnormality of the peripheral nervous system
HP:0006536	Airway obstruction
HP:0034093	Anti-Ro52/TRIM21 antibody positivity
HP:0020151	Anti-dsDNA antibody positivity
HP:0034076	Anti-ribosome Po antibody positivity
HP:0012089	Arteritis
HP:0001369	Arthritis
HP:0000708	Atypical behavior
HP:0002613	Biliary cirrhosis
HP:0012387	Bronchitis
HP:0200123	Chronic hepatitis
HP:0100778	Cryoglobulinemia
HP:0000965	Cutis marmorata
HP:0004313	Decreased circulating antibody level
HP:0005421	Decreased circulating complement C3 concentration
HP:0045042	Decreased circulating complement C4 concentration
HP:0032218	Decreased proportion of CD4-positive T cells
HP:0000716	Depression
HP:0000958	Dry skin
HP:0012219	Erythema nodosum
HP:0004302	Functional motor deficit
HP:0000099	Glomerulonephritis
HP:0010702	Increased circulating immunoglobulin concentration
HP:0001882	Leukopenia
HP:0031452	Lichenoid skin lesion
HP:0002716	Lymphadenopathy
HP:0006527	Lymphocytic interstitial pneumonia
HP:0002665	Lymphoma
HP:0001888	Lymphopenia
HP:0005523	Lymphoproliferative disorder
HP:0001287	Meningitis
HP:0002011	Morphological central nervous system abnormality
HP:0001324	Muscle weakness
HP:0003326	Myalgia
HP:0100614	Myositis
HP:0031246	Nonproductive cough
HP:0001895	Normochromic anemia
HP:0001897	Normocytic anemia
HP:0100653	Optic neuritis
HP:0000979	Purpura
HP:0030880	Raynaud phenomenon
HP:0000083	Renal insufficiency
HP:0001250	Seizure
HP:0200042	Skin ulcer
HP:0003474	Somatic sensory dysfunction
HP:0001873	Thrombocytopenia
HP:0100646	Thyroiditis
HP:0031088	Vaginal dryness
HP:0002633	Vasculitis
HP:0001045	Vitiligo
Very rare (<4-1%)
HP:0002143	Abnormality of the spinal cord
HP:0002072	Chorea
HP:0200120	Chronic active hepatitis
HP:0100543	Cognitive impairment
HP:0100583	Corneal perforation
HP:0000726	Dementia
HP:0032018	Multiple mononeuropathy
HP:0009830	Peripheral neuropathy
HP:0007141	Sensorimotor neuropathy

Run the differential on the 2 obligate / very frequent terms

Annotation source: 26093285[PMID]_28367079[PMID]_27444892[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/289390
This record as JSON: /data/d/289390.json