Cytoscape Web
Click node...

Hartsfield-Bixler-Demyer syndrome
1 OMIM reference -
1 associated gene
52 connected diseases
21 signs/symptoms
Disease Type of connection
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Giant cell glioblastoma
Gliosarcoma
Isolated trigonocephaly
Myeloid neoplasm associated with FGFR1 rearrangement
Oligodontia
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Septo-optic dysplasia
Autosomal agammaglobulinemia
SHORT syndrome
Coffin-Lowry syndrome
X-linked non-syndromic intellectual deficit
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hypophosphatemic rickets
Autosomal dominant nonsyndromic intellectual deficit
B-cell chronic lymphocytic leukemia
Budd-Chiari syndrome
Craniopharyngioma
Desmoid tumor
Essential thrombocythemia
Familial gastric cancer
Familial thrombocytosis
Gastric linitis plastica
Hepatocellular carcinoma, childhood-onset
Hypercalcemic tumoral calcinosis
Lethal congenital contracture syndrome type 2
Myelofibrosis with myeloid metaplasia
Pilomatrixoma
Polycythemia vera
Alobar holoprosencephaly
Cherubism
Lobar holoprosencephaly
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple synostoses syndrome
Nodulosis-arthropathy-osteolysis syndrome
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Torg-Winchester syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Hereditary gingival fibromatosis
Noonan syndrome
Oculootodental syndrome
Otodental syndrome
Autosomal recessive lymphoproliferative disease
Synonym(s):
- Holoprosencephaly - ectrodactyly - cleft lip palate
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FGFR1 P11362136350
Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Corpus callosum / septum pellucidum total / partial agenesis
- Craniostenosis / craniosynostosis / sutural synostosis
- Depressed nasal bridge
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Encephalocele / exencephaly
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypertelorism
- Intrauterine growth retardation
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Low set ears / posteriorly rotated ears
- Oligodactyly / ectrodactyly of fingers
- Ptosis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Single nare / abouphalia
- Stillbirth / neonatal death
- Telecanthus / canthal dystopy

Frequent
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Trident hand / split hand / abnormal median ray