IMAGe [intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies]

SYD: 46




IMAGe [intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies]

Description: A form of adrenal hypoplasia associated with intrauterine growth retardation, metaphysial dysplasia, and genital abnormalities has been identified (IMAGe [intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies] association; OMIM 300290). Three other forms of congenital adrenal hypoplasia have been identified, as follows: 1-An X-linked form (OMIM 300200) is caused by a mutation or deletion of the DAX1 gene (dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, also called the AHCH gene) on the X chromosome. This form is usually associated with hypogonadotropic hypogonadism. It may be part of a contiguous chromosome deletion, which may include congenital adrenal hypoplasia, Duchenne muscular dystrophy (OMIM 310200), and glycerol kinase deficiency (OMIM 307030). 2-The autosomal recessive form is due to a mutation or deletion of the gene that codes for steroidogenic factor 1 (SF-1) on chromosome 9q33 (OMIM 184757). This form is also associated with hypogonadotropic hypogonadism. 3-An autosomal recessive form of uncertain etiology (OMIM 240200) has also been identified.


Synonyms:
There are no synonyms for this combination.

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Developmental anomalies

Listed in the combination's profile :


There are no developmental anomalies for this combination.

Observed in MDB cases:


There are no developmental anomalies for this combination.
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Associated malformative diseases
Associated genes
Associated signaling pathways
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