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Familial scaphocephaly syndrome, McGillivray type
1 OMIM reference -
1 associated gene
16 signs/symptoms
PROTEIN INTERACTIONS: 1
Acute promyelocytic leukemia
1 OMIM reference -
7 associated genes
No signs/symptoms info
Familial scaphocephaly syndrome, McGillivray type
Acute promyelocytic leukemia

FGFR2
(UniProt - OMIM)
 NABP1
(UniProt - OMIM)
NPM1
(UniProt - OMIM)
NUMA1
(UniProt - OMIM)
PML
(UniProt - OMIM)
RARA
(UniProt - OMIM)
STAT5B
(UniProt - OMIM)
ZBTB16
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FGFR2
(0.63)
STAT5B


Citations in the biomedical literature:


Familial scaphocephaly syndrome, McGillivray type
FGFR2
Acute promyelocytic leukemia
NABP1 NPM1 NUMA1 PML RARA STAT5B
ZBTB16



Familial scaphocephaly syndrome, McGillivray type
Acute promyelocytic leukemia

Synonym(s):
- Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit
Synonym(s):
- Acute myeloblastic leukemia type 3
- Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D015473
Familial scaphocephaly syndrome, McGillivray type

Very frequent
- Autosomal dominant inheritance
- High forehead
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Macrocephaly / macrocrania / megalocephaly / megacephaly

Frequent
- Dental malocclusion
- Dolichocephaly / scaphocephaly
- High vaulted / narrow palate
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mid-facial hypoplasia / short / small midface

Occasional
- Broad / bifid big toe
- Dilated cerebral ventricles without hydrocephaly
- Prognathism / prognathia
- Syndactyly of toes
- Trigonocephaly
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures


Acute promyelocytic leukemia

(no data available)