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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Hartsfield-Bixler-Demyer syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Pilomatrixoma

Hartsfield-Bixler-Demyer syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTNNB1	(0.63)	FGFR1

Citations in the biomedical literature:

Pilomatrixoma		Hartsfield-Bixler-Demyer syndrome
	Synonym(s): - Epithelioma calcificans of Malherbe - Pilomatricoma		Synonym(s): - Holoprosencephaly - ectrodactyly - cleft lip palate

	Classification (Orphanet): - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

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

	Epidemiological data: (no data available)		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 - 1 MeSH reference: D018296		External references: 1 OMIM reference - No MeSH references

Hartsfield-Bixler-Demyer syndrome
	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
Pilomatrixoma
(no data available)