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14 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
37 signs/symptoms
Semilobar holoprosencephaly
Solitary median maxillary central incisor syndrome

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


COMMON
GENES
SHH


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTCH1
GAS1
(0.59)
(0.55)
SHH
SHH



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Solitary median maxillary central incisor syndrome



Semilobar holoprosencephaly
Solitary median maxillary central incisor syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- SMMCI
- Single upper central incisor

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the digestive system -

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: childhood
Average age of death: -
Type of inheritance: multigenic/multifactorial

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537342

Solitary median maxillary central incisor syndrome

Very frequent
- Choanal atresia
- Nasal / sinus obstruction / apertura pyriformis hypoplasia / stenosis
- Short stature / dwarfism / nanism
- Solitary median incisor

Frequent
- Hypotelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Narrow nasal bridge
- Prematurity
- Short philtrum
- Tented upper lip

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Ambiguous genitalia
- Anteverted nares / nostrils
- Asthma / bronchospasm
- Autosomal dominant inheritance
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cleft lip and palate
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Cyclopia
- Duodenal atresia / stenosis / megaduodenum
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Hypothyroidy
- Insterstitial / subtelomeric microdeletion / deletion
- Maternal diabetes
- Micropenis / small penis / agenesis
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose
- Strabismus / squint
- Tetralogy of Fallot / trilogy of Fallot
- Vertebral segmentation anomaly / hemivertebrae


Semilobar holoprosencephaly

(no data available)