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14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
36 signs/symptoms
Semilobar holoprosencephaly
Thanatophoric dysplasia type 2

CDON FGFR3
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF8
(0.73)
FGFR3



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Thanatophoric dysplasia type 2
FGFR3



Semilobar holoprosencephaly
Thanatophoric dysplasia type 2

Synonym(s):
(no synonyms)

Synonym(s):
- Cloverleaf skull - micromelic bone dysplasia
- TD2
- Thanatophoric dwarfism - cloverleaf skull
- Thanatophoric dwarfism type 2

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references

Thanatophoric dysplasia type 2

Very frequent
- Autosomal dominant inheritance
- Cloverleaf skull
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Flat face
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Loose skin / skin relaxation / excess skin / creases
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Narrow rib cage / thorax
- Platyspondyly
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rhizomelic micromelia
- Short hand / brachydactyly
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Stillbirth / neonatal death

Frequent
- Dilated cerebral ventricles without hydrocephaly
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- Increased nuchal translucency
- Kyphosis
- Polyhydramnios
- Proptosis / exophthalmos
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Acanthosis nigricans
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Atrial septal defect / interauricular communication
- Encephalocele / exencephaly
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hydrocephaly
- Patent ductus arteriosus
- Renal / kidney anomalies
- Restricted joint mobility / joint stiffness / ankylosis


Semilobar holoprosencephaly

(no data available)