Cytoscape Web
Click node...


14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
24 signs/symptoms
Semilobar holoprosencephaly
Atypical Rett syndrome

CDON CDKL5
DISP1 FOXG1
DLL1 MECP2
FGF8 NTNG1
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FOXH1
(0.87)
FOXG1



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Atypical Rett syndrome
CDKL5 FOXG1 MECP2 NTNG1



Semilobar holoprosencephaly
Atypical Rett syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Atypical RTT
- Rett syndrome variant

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: multigenic/multifactorial
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:
No OMIM references
No MeSH references
External references:
3 OMIM references -
No MeSH references

Atypical Rett syndrome

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
- 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



Semilobar holoprosencephaly

(no data available)