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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
3 associated genes
52 signs/symptoms
Microform holoprosencephaly
Lacrimo-auriculo-dento-digital syndrome

CDON FGF10
DISP1 FGFR2
DLL1 FGFR3
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF8
FGF8
(0.73)
(0.62)
FGFR3
FGFR2



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Lacrimo-auriculo-dento-digital syndrome
FGF10 FGFR2 FGFR3



Microform holoprosencephaly
Lacrimo-auriculo-dento-digital syndrome

Synonym(s):
- Microform HPE

Synonym(s):
- LADD syndrome
- LARD syndrome
- Lacrimo-auriculo-radio-dental syndrome
- Levy-Hollister syndrome

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare odontologic disease
- Rare otorhinolaryngologic disease
- Rare skin 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: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

Lacrimo-auriculo-dento-digital syndrome

Very frequent
- Autosomal dominant inheritance
- Broad / bifid thumb
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Clinodactyly of toes
- Complete / partial microdontia
- Conductive deafness / hearing loss
- Congenital alacrimia
- Defect / anomaly of lacrimal system
- Enamel anomaly
- External ear anomalies
- Fingerlike / triphalangeal thumb
- Folded helix
- Small / hypoplastic / adherent / absent ear lobe
- Tooth shape anomaly

Frequent
- Anodontia / oligodontia / hypodontia
- Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct
- Antihelix anomaly
- Broad / bifid big toe
- Clinodactyly of fifth finger
- Corneal ulceration / perforation
- Long / large / bulbous nose
- Low set ears / posteriorly rotated ears
- Mouth dryness / xerostomia
- Multiple caries
- Oral synechiae / abnormal frenulae
- Preaxial polydactyly (hand)
- Sensorineural deafness / hearing loss
- Syndactyly of fingers / interdigital palm
- Telecanthus / canthal dystopy
- Thumb anomalies (excluding hypoplasia)
- Visual loss / blindness / amblyopia

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Broad forehead
- Choanal atresia
- Cleft lip and palate
- Deepset eyes / enophthalmos
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- High forehead
- Hypospadias / epispadias / bent penis
- Large fontanelle / delayed fontanelle closure
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nephrosclerosis
- Ptosis
- Radial club hand
- Radioulnar synostosis
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Renal disease / nephropathy
- Rib structure anomalies
- Stillbirth / neonatal death
- Taurodontia
- Thumb hypoplasia / aplasia / absence


Microform holoprosencephaly

(no data available)