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14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
41 signs/symptoms
Semilobar holoprosencephaly
Achondroplasia

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
Achondroplasia
FGFR3



Semilobar holoprosencephaly
Achondroplasia

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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: elderly
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D000130

Achondroplasia

Very frequent
- Anomalies of the ribs
- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Chronic / relapsing otitis
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Frontal bossing / prominent forehead
- Genu varum
- Lordosis
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Rhizomelic micromelia
- Short hand / brachydactyly
- Short stature / dwarfism / nanism

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal vertebral size / shape
- Apnea / sleep apnea
- Bowed diaphysis / diaphyses / long bones
- Conductive deafness / hearing loss
- Dilated cerebral ventricles without hydrocephaly
- Elbow anomalies(excluding luxation)
- Enlarged diaphysis / diaphyses
- Generalized obesity
- Hyperextensible joints / articular hyperlaxity
- Hyperhidrosis / increased sweating
- Hypotonia
- Intrauterine growth retardation
- Kyphosis
- Long rib cage / thorax
- Mid-facial hypoplasia / short / small midface
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality

Occasional
- Acanthosis nigricans
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Death in infancy
- Elbow dislocation
- Elocution disorders / dysarthria / dysphonia
- Hydrocephaly
- Rachidian / spine canal stenosis
- Restricted joint mobility / joint stiffness / ankylosis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia


Semilobar holoprosencephaly

(no data available)