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3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
20 signs/symptoms
Dedifferentiated liposarcoma
Agnathia - holoprosencephaly - situs inversus

CDK4 OTX2
HMGA2 PRRX1
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDK4
(0.7)
OTX2



Citations in the biomedical literature:


Dedifferentiated liposarcoma
CDK4 HMGA2 MDM2
Agnathia - holoprosencephaly - situs inversus
OTX2 PRRX1



Dedifferentiated liposarcoma
Agnathia - holoprosencephaly - situs inversus

Synonym(s):
- DDLS

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

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

Agnathia - holoprosencephaly - situs inversus

Very frequent
- Absent / decreased / thin eyebrows
- Anomalies of eyelids, eyelashes and lacrimal system
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Corpus callosum / septum pellucidum total / partial agenesis
- Cranial nerve anomalies
- Cyclopia
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypoplastic mandibula / partial absence of the mandibula
- Low set ears / posteriorly rotated ears
- Microglossia / aglossia / hypoglossia / tongue hypoplasia
- Micropenis / small penis / agenesis
- Microstomia / little mouth
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Polyhydramnios
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Single nare / abouphalia
- Situs inversus visceralis / colon / intestine trasposition / heterotaxia
- Stillbirth / neonatal death
- Synotia



Dedifferentiated liposarcoma

(no data available)