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Reynolds syndrome
1 OMIM reference -
1 associated gene
26 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Atypical Rett syndrome
3 OMIM references -
4 associated genes
24 signs/symptoms
Reynolds syndrome
Atypical Rett syndrome

LBR
(UniProt - OMIM)
 CDKL5
(UniProt - OMIM)
FOXG1
(UniProt - OMIM)
MECP2
(UniProt - OMIM)
NTNG1
(UniProt - OMIM)

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


Citations in the biomedical literature:


Reynolds syndrome
LBR
Atypical Rett syndrome
CDKL5 FOXG1 MECP2 NTNG1



Reynolds syndrome
Atypical Rett syndrome

Synonym(s):
- Primary biliary cirrhosis and systemic scleroderma
Synonym(s):
- Atypical RTT
- Rett syndrome variant
Classification (Orphanet):
- Rare hepatic disease
- Rare renal disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references
COMMON
SIGNS 		- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia

Reynolds syndrome
Atypical Rett syndrome

Very frequent
- Asthenia / fatigue / weakness
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Hepatomegaly / liver enlargement (excluding storage disease)
- Myalgia / muscular pain
- Pruritus / itching

Frequent
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Arthritis / synovitis / synovial proliferation
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Dermal / subcutaneous infiltration / induration
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Irregular / in bands / reticular skin hyperpigmentation
- Mouth dryness / xerostomia
- Periarticular tissue anomaly / extraarticular calcifications
- Telangiectasiae of mucosae
- Telangiectasiae of the skin
- Tight skin / lack of elasticity
- Xerophthalmia / dry eyes

Occasional
- Ascitis
- Cirrhosis
- Encephalitis
- Hepatitis / icterus / cholestasis
- Lichen
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Very frequent
- Anomalies of ear and hearing
- Antitragus abnormal
- Camptodactyly of some fingers
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Clinodactyly of fifth finger
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Dysplastic / thick / grooved fingernails
- EEG anomalies
- Fine hair
- Hearing loss / hypoacusia / deafness
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Long / large / bulbous nose
- Macrostomia / big mouth
- Metacarpal anomalies / Archibald's sign
- Microcephaly
- Movement disorder
- Seizures / epilepsy / absences / spasms / status epilepticus
- Thick lips
- Thin / hypoplastic ala nasi
- Urinary / renal lithiasis / kidney stones / nephritic colic