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17p13.3 microduplication syndrome

1 OMIM reference -
2 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1

Familial leiomyomatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

17p13.3 microduplication syndrome

Familial leiomyomatosis

PAFAH1B1	(UniProt - OMIM)		FH	(UniProt - OMIM)
YWHAE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAFAH1B1	(0.63)	FH

Citations in the biomedical literature:

17p13.3 microduplication syndrome		Familial leiomyomatosis
	Synonym(s): - 17p13.3 duplication syndrome - Dup(17)(p13.3) - Trisomy 17p13.3		Synonym(s): - Familial leiomyomatosis with renal carcinoma - Familial leiomyomatosis with renal cell cancer - Familial multiple cutaneous leiomyomas - HLRCC - Hereditary leiomyomatosis - Hereditary leiomyomatosis with renal carcinoma - Hereditary leiomyomatosis with renal cell cancer - Hereditary multiple cutaneous leiomyomas - Multiple cutaneous and uterine leiomyomas

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare oncologic disease - Rare renal disease - Rare skin 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: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant

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

17p13.3 microduplication syndrome		Familial leiomyomatosis
	Very frequent - Broad nose / nasal bridge - Frontal bossing / prominent forehead - High forehead - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microstomia / little mouth - Short / small nose Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Short neck Occasional - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Inguinal / inguinoscrotal / crural hernia - Micropenis / small penis / agenesis - Tall stature / gigantism / growth acceleration		Very frequent - Autosomal dominant inheritance - Muscle anomalies - Skin tumors / lumps / epidermal cysts Frequent - Pruritus / itching Occasional - Cataract / lens opacification - Esophageal neoplasm / tumor / carcinoma / cancer - Kidney / renal neoplasm / tumor / carcinoma / cancer - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia - Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer - Vaginal / vulvar neoplasm / tumor / carcinoma / cancer