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Distal 22q11.2 microdeletion syndrome
1 OMIM reference -
3 associated genes
287 connected diseases
60 signs/symptoms
Disease Type of connection
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Chronic myeloid leukemia
Noonan syndrome
Juvenile myelomonocytic leukemia
Giant cell glioblastoma
Familial pancreatic carcinoma
LEOPARD syndrome
Cardiofaciocutaneous syndrome
Autosomal agammaglobulinemia
Acute promyelocytic leukemia
Pilocytic astrocytoma
Amyotrophic lateral sclerosis
Gastrointestinal stromal tumor
MODY syndrome
Essential thrombocythemia
B-cell chronic lymphocytic leukemia
46,XY partial gonadal dysgenesis
Hereditary gingival fibromatosis
Hereditary breast and ovarian cancer syndrome
Papillary or follicular thyroid carcinoma
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Adrenocortical carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Burkitt lymphoma
Classic mast cell leukemia
Cutaneous mastocytoma
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Berardinelli-Seip congenital lipodystrophy
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Primary familial polycythemia
Young adult-onset Parkinsonism
SHORT syndrome
46,XY complete gonadal dysgenesis
Familial isolated dilated cardiomyopathy
Wiskott-Aldrich syndrome
Congenital mesoblastic nephroma
Hyperinsulinism due to INSR deficiency
Idiopathic bronchiectasis
Insulin-resistance syndrome type A
Rabson-Mendenhall syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Follicular lymphoma
Intravascular large B-cell lymphoma
Behavioral variant of frontotemporal dementia
Idiopathic hypereosinophilic syndrome
Monosomy 22q13
Progressive non-fluent aphasia
Semantic dementia
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Chronic myelomonocytic leukemia
Autosomal dominant Emery-Dreifuss muscular dystrophy
Laron syndrome with immunodeficiency
Inflammatory myofibroblastic tumor
Translocation renal cell carcinoma
Acute basophilic leukemia
Common variable immunodeficiency
Coffin-Lowry syndrome
X-linked non-syndromic intellectual deficit
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Tuberous sclerosis
Xeroderma pigmentosum complementation group B
Estrogen resistance syndrome
Aneurysm - osteoarthritis syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Familial thoracic aortic aneurysm and aortic dissection
Kennedy disease
Partial androgen insensitivity syndrome
Autosomal dominant hyper-IgE syndrome
Parkinsonian-pyramidal syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Male infertility with normal virilization due to meiosis defect
Severe combined immunodeficiency due to LCK deficiency
Neonatal inflammatory skin and bowel disease
Retinitis pigmentosa
2q37 microdeletion syndrome
Autosomal recessive dopa-responsive dystonia
Immunodeficiency by defective expression of HLA class 2
Myeloid neoplasm associated with PDGFRA rearrangement
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Autoimmune lymphoproliferative syndrome with recurrent infections
Endocrine-cerebro-osteodysplasia syndrome
Familial congenital mirror movements
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Zonular cataract
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Craniometaphyseal dysplasia
Hypoplastic left heart syndrome
Oculodentodigital dysplasia
Syndactyly type 3
8p23.1 microdeletion syndrome
Atrial septal defect, ostium secundum type
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Budd-Chiari syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Diffuse cutaneous systemic sclerosis
Ear-patella-short stature syndrome
Familial atrial fibrillation
Familial thrombocytosis
Glucocorticoid resistance
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Myelofibrosis with myeloid metaplasia
Partial atrioventricular canal
Polycythemia vera
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Single ventricular septal defect
Tetralogy of Fallot
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Acroosteolysis dominant type
Adult-onset distal myopathy due to VCP mutation
Alagille syndrome due to a NOTCH2 point mutation
Autosomal dominant spastic paraplegia type 13
Bannayan-Riley-Ruvalcaba syndrome
CLN10 disease
CLN11 disease
Cone rod dystrophy
Costello syndrome
Cowden syndrome
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Dedifferentiated liposarcoma
Duchenne muscular dystrophy
Familial melanoma
Familial prostate cancer
Growth delay due to insulin-like growth factor I resistance
Hereditary breast cancer
Hereditary nonpolyposis colon cancer
Hereditary site-specific ovarian cancer syndrome
Idiopathic CD4 lymphocytopenia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Juvenile polyposis of infancy
Lethal congenital contracture syndrome type 2
Lhermitte-Duclos disease
Linear nevus sebaceus syndrome
Macrocephaly-autism syndrome
Mantle cell lymphoma
Mucolipidosis type 2
Mucolipidosis type 3
Multiple myeloma
Muscular dystrophy, Selcen type
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Primary peritoneal carcinoma
Proteus syndrome
Proteus-like syndrome
Renal tubular dysgenesis of genetic origin
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Spastic paraplegia - Paget disease of bone
Squamous cell carcinoma of head and neck
Treacher-Collins syndrome
Well-differentiated liposarcoma
Williams syndrome
Benign familial chorea
Brain-lung-thyroid syndrome
Thyroid hypoplasia
Hyperinsulinism due to HNF4A deficiency
Alobar holoprosencephaly
Autosomal recessive malignant osteopetrosis
Clear cell renal carcinoma
Crouzon disease
Familial lambdoid synostosis
Familial partial lipodystrophy associated with PPARG mutations
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Intermittent hydrarthrosis
Isolated cloverleaf skull syndrome
Isolated scaphocephaly
Lobar holoprosencephaly
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Myhre syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
TRAPS syndrome
Tietz syndrome
Waardenburg syndrome type 2
17p13.3 microduplication syndrome
46,XX gonadal dysgenesis
Acrodysostosis with multiple hormone resistance
Acute myeloid leukemia
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Beta-thalassemia - X-linked thrombocytopenia
Bilateral renal agenesis
Bilateral renal dysplasia
Capillary malformation - arteriovenous malformation
Cerebellar ataxia - hypogonadism
Congenital erythropoietic porphyria
Deafness - lymphedema - leukemia
Distal 17p13.3 microdeletion syndrome
Early infantile epileptic encephalopathy
Familial medullary thyroid carcinoma
Generalized pseudohypoaldosteronism type 1
Haddad syndrome
Hairy cell leukemia
Hashimoto-Pritzker syndrome
Hirschsprung disease
Hyperinsulinism due to HNF1A deficiency
Hypocalcemic vitamin D-resistant rickets
Liddle syndrome
Malignant migrating partial seizures of infancy
Miller-Dieker syndrome
Monocytopenia with susceptibility to infections
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Myelodysplastic syndromes
Parkes Weber syndrome
Primary mediastinal large B-cell lymphoma
Rare isolated myopia
Stüve-Wiedemann syndrome
Thrombocytopenia with congenital dyserythropoietic anemia
Unilateral renal dysplasia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
X-linked lymphoproliferative disease
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Bilateral striopallidodentate calcinosis
Charcot-Marie-Tooth disease type 2B1
Childhood-onset nemaline myopathy
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
Infantile myofibromatosis
Intermediate nemaline myopathy
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Myeloid neoplasm associated with PDGFRB rearrangement
Progeria-associated arthropathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Unclassified chronic myeloproliferative disease
- Distal del(22)(q11.2)
- Distal monosomy 22q11.2

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
BCR P11274151410
CRKL P46109602007
MAPK1 P28482176948
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

- 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

- 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