Cytoscape Web
Click node...

Myhre syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Atypical Rett syndrome
3 OMIM references -
4 associated genes
24 signs/symptoms
Myhre syndrome
Atypical Rett syndrome

SMAD4
(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)
SMAD4
(0.52)
FOXG1


Citations in the biomedical literature:


Myhre syndrome
SMAD4
Atypical Rett syndrome
CDKL5 FOXG1 MECP2 NTNG1



Myhre syndrome
Atypical Rett syndrome

Synonym(s):
- Facial dysmorphism - intellectual deficit - short stature - hearing loss
Synonym(s):
- Atypical RTT
- Rett syndrome variant
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
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 		- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability

Myhre syndrome
Atypical Rett syndrome

Very frequent
- Anomalies of the ribs
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intrauterine growth retardation
- Microstomia / little mouth
- Mid-facial hypoplasia / short / small midface
- Muscle hypertrophy
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Prognathism / prognathia
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly
- Short philtrum
- Short stature / dwarfism / nanism
- Thin / retracted lips

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Blepharophimosis / short palpebral fissures
- Cardiac septal defect
- Chronic arterial hypertension
- Epiphyseal anomaly
- Hypermetropia
- Metaphyseal anomaly
- Ptosis
- Thick skin / pachydermia / orange skin
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Cataract / lens opacification
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Late puberty / hypogonadism / hypogenitalism
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Precocious puberty
- Psychic / behavioural troubles


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
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypertonia / spasticity / rigidity / stiffness
- 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