Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 25-03-2015

Symbol	IMAS
Location	11p15.4
Name	IMAGE syndrome
Corresponding gene	CDKN1C
Main clinical features	rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies severe IUGR and marked postnatal growth failure, adrenal hypoplasia congenita
Genetic determination	autosomal dominant
Function/system disorder	endocrinology
	osteo-articular
Type	disease

Remark(s)

. missense mutations localized to the PCNA-binding domain result in IMAS syndrome (PMID: 22634755)) IMAS-mutant CDKN1C protein decreased cell growth significantly more than both the wild-type or BWS protein (PMID: 25861374))