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Distal 22q11.2 microdeletion syndrome
1 OMIM reference -
3 associated genes
60 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Mandibuloacral dysplasia with type A lipodystrophy
1 OMIM reference -
1 associated gene
28 signs/symptoms
Distal 22q11.2 microdeletion syndrome
Mandibuloacral dysplasia with type A lipodystrophy

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CRKL
(0.49)
LMNA


Citations in the biomedical literature:


Distal 22q11.2 microdeletion syndrome
BCR CRKL MAPK1
Mandibuloacral dysplasia with type A lipodystrophy
LMNA



Distal 22q11.2 microdeletion syndrome
Mandibuloacral dysplasia with type A lipodystrophy

Synonym(s):
- Distal del(22)(q11.2)
- Distal monosomy 22q11.2
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535705
COMMON
SIGNS 		- High vaulted / narrow palate
- Short stature / dwarfism / nanism
- Terminal / third phalangeal bone of fingers hypoplasia

Distal 22q11.2 microdeletion syndrome
Mandibuloacral dysplasia with type A lipodystrophy

Very frequent
- High arched eyebrows
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Philtrum flat / large / featureless / absent cupidon bows
- Prematurity
- 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
- 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
- Tics / stereotypias
- Ulnar deviation of fingers
- Ventricular septal defect / interventricular communication
- Wide space between 1st-2nd toes


Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Alopecia
- Clavicle absent / abnormal
- Large fontanelle / delayed fontanelle closure
- Osteolysis / osteoclasia / bone destruction / erosions
- Premature ageing
- Restricted joint mobility / joint stiffness / ankylosis
- Skin hypoplasia / aplasia / atrophy
- Wormian bones

Frequent
- Eyebrows anomalies
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Proptosis / exophthalmos

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Anomalies of cartilages, joints and periarticular tissue
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Articular / joint pain / arthralgia
- Autosomal recessive inheritance
- Breast tissue / mammary gland absence / aplasia
- Cataract / lens opacification
- Hearing loss / hypoacusia / deafness
- Hypotonia
- Muscle anomalies
- Tight skin / lack of elasticity