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Distal 22q11.2 microdeletion syndrome
1 OMIM reference -
3 associated genes
60 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 13
Coffin-Lowry syndrome
1 OMIM reference -
1 associated gene
68 signs/symptoms
Distal 22q11.2 microdeletion syndrome
Coffin-Lowry syndrome

BCR
(UniProt - OMIM)
 RPS6KA3
(UniProt - OMIM)
CRKL
(UniProt - OMIM)
MAPK1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MAPK1
(0.98)
RPS6KA3


Citations in the biomedical literature:


Distal 22q11.2 microdeletion syndrome
BCR CRKL MAPK1
Coffin-Lowry syndrome
RPS6KA3



Distal 22q11.2 microdeletion syndrome
Coffin-Lowry syndrome

Synonym(s):
- Distal del(22)(q11.2)
- Distal monosomy 22q11.2
Synonym(s):
- CLS
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D038921
COMMON
SIGNS 		- Absent / small fingernails / anonychia of hands
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Flat foot
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Terminal / third phalangeal bone of fingers hypoplasia

Distal 22q11.2 microdeletion syndrome
Coffin-Lowry syndrome

Very frequent
- High arched eyebrows
- Insterstitial / subtelomeric microdeletion / deletion
- Philtrum flat / large / featureless / absent cupidon bows
- Prematurity

Frequent
- 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
- Intrauterine growth retardation
- Pointed chin
- Thin / hypoplastic ala nasi
- Thin / retracted lips

Occasional
- Ankyloglossia / lingual synechiae
- Aortic root dilatation / dilation / aneurysm
- 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
- 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
- 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
- Abnormal vertebral size / shape
- Anodontia / oligodontia / hypodontia
- Anteverted nares / nostrils
- Coarse face
- Delayed bone age
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Depressed nasal bridge
- Diaphyseal anomaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epicanthic folds
- Everted lower lip
- Flared / thick ala nasi
- Frontal bossing / prominent forehead
- Hypertelorism
- Hypotonia
- Kyphosis
- Large hand
- Mouth held open
- Pectus carinatum
- Pectus excavatum
- Protruding lips
- Scoliosis
- Tapered fingers
- Thick lips
- Thick / dowel fingers
- Tooth shape anomaly

Frequent
- Abnormal gait
- Broad nose / nasal bridge
- Dilated cerebral ventricles without hydrocephaly
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hypertonia / spasticity / rigidity / stiffness
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Loose skin / skin relaxation / excess skin / creases
- Macrostomia / big mouth
- Metacarpal anomalies / Archibald's sign
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Prominent / bat ears

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Apnea / sleep apnea
- Auto-aggressivity / auto-mutilation
- Blepharitis / eyelid inflammation
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Early death in adulthood
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Premature eruption of teeth / natal teeth
- Retinitis pigmentosa / retinal pigmentary changes
- Tricuspid valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly