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Agnathia - holoprosencephaly - situs inversus
1 OMIM reference -
2 associated genes
20 signs/symptoms
PROTEIN INTERACTIONS: 1
MITF-related melanoma and renal cell carcinoma predisposition syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
Agnathia - holoprosencephaly - situs inversus
MITF-related melanoma and renal cell carcinoma predisposition syndrome

OTX2
(UniProt - OMIM)
 MITF
(UniProt - OMIM)
PRRX1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
OTX2
(0.52)
MITF


Citations in the biomedical literature:


Agnathia - holoprosencephaly - situs inversus
OTX2 PRRX1
MITF-related melanoma and renal cell carcinoma predisposition syndrome
MITF



Agnathia - holoprosencephaly - situs inversus
MITF-related melanoma and renal cell carcinoma predisposition syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
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



MITF-related melanoma and renal cell carcinoma predisposition syndrome

(no data available)