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Distal 22q11.2 microdeletion syndrome
1 OMIM reference -
3 associated genes
60 signs/symptoms
PROTEIN INTERACTIONS: 1
TRAPS syndrome
1 OMIM reference -
1 associated gene
37 signs/symptoms
Distal 22q11.2 microdeletion syndrome
TRAPS syndrome

BCR
(UniProt - OMIM)
 TNFRSF1A
(UniProt - OMIM)
CRKL
(UniProt - OMIM)
MAPK1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MAPK1
(0.55)
TNFRSF1A


Citations in the biomedical literature:


Distal 22q11.2 microdeletion syndrome
BCR CRKL MAPK1
TRAPS syndrome
TNFRSF1A



Distal 22q11.2 microdeletion syndrome
TRAPS syndrome

Synonym(s):
- Distal del(22)(q11.2)
- Distal monosomy 22q11.2
Synonym(s):
- Autosomal dominant periodic fever
- Familial hibernian fever
- TNF receptor 1 associated periodic syndrome
- Tumor necrosis factor receptor 1 associated periodic syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Distal 22q11.2 microdeletion syndrome
TRAPS syndrome

Very frequent
- High arched eyebrows
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Philtrum flat / large / featureless / absent cupidon bows
- Prematurity
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Clinodactyly of fifth finger
- Common arterial trunk / truncal valve
- Deepset eyes / enophthalmos
- External ear anomalies
- Flat foot
- Intrauterine growth retardation
- Microcephaly
- Pointed chin
- Thin / hypoplastic ala nasi
- Thin / retracted lips

Occasional
- Ankyloglossia / lingual synechiae
- Aortic root dilatation / dilation / aneurysm
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Bowed diaphysis / diaphyses / long bones
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Camptodactyly of some fingers
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Encopresis / fecal incontinence
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat cheek bones / malar hypoplasia
- Gastric / pyloric stenosis
- High nasal bridge
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Inguinal / inguinoscrotal / crural hernia
- Long face
- Long hand / arachnodactyly
- Lordosis
- Microstomia / little mouth
- Obsessive-compulsive disorder
- Oculomotor apraxia / dyspraxia
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Syndactyly of toes
- Terminal / third phalangeal bone of fingers hypoplasia
- Tics / stereotypias
- Ulnar deviation of fingers
- Ventricular septal defect / interventricular communication
- Wide space between 1st-2nd toes


Very frequent
- Acute abdominal pain / colic
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Cutaneous rash
- Erysipela
- Fever / chilling
- Macules
- Malabsorption / chronic diarrhea / steatorrhea
- Myalgia / muscular pain
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion

Frequent
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Arthritis / synovitis / synovial proliferation
- Constipation
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperleukocytosis / leukocytosis
- Intestinal obstruction / ileus
- Lymphadenopathy / polyadenopathies
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Splenomegaly
- Testes inflammation / orchitis

Occasional
- Articular / joint pain / arthralgia
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cranial nerves palsy
- Dizziness
- Ecchymoses
- Facial pain / cephalalgia / migraine
- Fasciitis
- Follicular / erythematous / edematous papules / milium
- Myocardium anomalies / myocarditis
- Myositis
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Peritonitis / peritoneal abscess
- Pharyngitis
- Psychic / behavioural troubles
- Sacroiliac joints anomalies
- Thoracic / chest pain
- Vascularitis / vasculitides / arteritis