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Rett syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 13
1p36 deletion syndrome
1 OMIM reference -
4 associated genes
90 signs/symptoms
Rett syndrome
1p36 deletion syndrome

MECP2
(UniProt - OMIM)
 GABRD
(UniProt - OMIM)
KCNAB2
(UniProt - OMIM)
PRDM16
(UniProt - OMIM)
SKI
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MECP2
(0.79)
SKI


Citations in the biomedical literature:


Rett syndrome
MECP2
1p36 deletion syndrome
GABRD KCNAB2 PRDM16 SKI



Rett syndrome
1p36 deletion syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Del(1)(p36)
- Deletion 1p36
- Deletion 1pter
- Monosomy 1p36
- Monosomy 1pter
- Subtelomeric 1p36 deletion
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Mental and behavioural disorders -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: x-linked dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: D015518
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autism / autistic disoders
- Auto-aggressivity / auto-mutilation
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Early death / lethality
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Psychic / behavioural troubles
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tics / stereotypias

Rett syndrome
1p36 deletion syndrome

Very frequent
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Microcephaly
- Movement disorder
- Skull / cranial anomalies
- X-linked dominant inheritance

Frequent
- Anomalies of teeth and dentition
- Ataxia / incoordination / trouble of the equilibrium
- Dystonia / torticollis / writer's cramp / blepharospasms
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertonia / spasticity / rigidity / stiffness
- Metacarpal anomalies / Archibald's sign
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Arnold-Chiari anomaly
- Arthrogryposis
- Cardiac rhythm disorder / arrhythmia
- Hepatomegaly / liver enlargement (excluding storage disease)
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Psychic / psychomotor regression / dementia / intellectual decline
- Restricted joint mobility / joint stiffness / ankylosis
- Small foot


Very frequent
- Abnormal gait
- Broad nasal root
- Camptodactyly of fingers
- Corpus callosum / septum pellucidum total / partial agenesis
- Deepset eyes / enophthalmos
- Dilated cerebral ventricles without hydrocephaly
- Enlargment of jaw / large jaw
- Eyebrows anomalies
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Long philtrum
- Mid-facial hypoplasia / short / small midface
- Pointed chin
- Short foot / brachydactyly of toes
- Short hand / brachydactyly

Frequent
- Anomalies of eyes and vision
- Brachycephaly / flat occiput
- Clinodactyly of fifth finger
- Congenital cardiac anomaly / malformation / cardiopathy
- Constipation
- Depressed nasal bridge
- Epicanthic folds
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Flattened nose
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypermetropia
- Large fontanelle / delayed fontanelle closure
- Low set ears / posteriorly rotated ears
- Microstomia / little mouth
- Strabismus / squint

Occasional
- Annular pancreas
- Anomalies of the neck
- Anomalies of the ribs
- Anus / rectum anomalies
- Bulimia / hyperphagia
- Cardiac septal defect
- Cardiac valvulopathy
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Conductive deafness / hearing loss
- Frontal bossing / prominent forehead
- Gastric / pyloric stenosis
- Generalized obesity
- Hirsutism / hypertrichosis / Increased body hair
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypospadias / epispadias / bent penis
- Hypothyroidy
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intestinal / colonic anomaly
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Liver / hepatic steatosis
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Macules
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Micropenis / small penis / agenesis
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Myopathy
- Neuroblastoma
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Patent ductus arteriosus
- Polydactyly of toes
- Rachidian / spine canal stenosis
- Renal cyst (single)
- Renal / kidney anomalies
- Retinal albinism
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Structural and functional anomalies of the spleen
- Structural anomalies of the liver and the biliary tract
- Telangiectasiae of the skin
- Tetralogy of Fallot / trilogy of Fallot
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Visual loss / blindness / amblyopia