Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

Preferred Label : Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency;

Symbol : IMAGEI;

CISMeF acronym : IMAGEI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Imagei syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the epsilon DNA polymerase (POLE, 174762.0003);

Neoplasia : T-cell lymphoma (rare); Hodgkin lymphoma (rare);

Prefixed ID : #618336;

Details

Origin ID

618336;

UMLS CUI

C5193036;

Genes related to phenotype
- Polymerase, dna, epsilon [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral cryptorchidism [HPO term]
- Broad neck [HPO term]
- Clinodactyly [HPO term]
- Congenital adrenal hypoplasia [HPO term]
- Decreased body weight [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Eczema [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Hodgkin lymphoma [HPO term]
- Hypospadias [HPO term]
- Immunodeficiency [HPO term]
- Intrauterine growth retardation [HPO term]
- Long nose [HPO term]
- Low-set ears [HPO term]
- Metaphyseal dysplasia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Narrow nose [HPO term]
- Osteopenia [HPO term]
- Posteriorly rotated ears [HPO term]
- Relative macrocephaly [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Severe short stature [HPO term]
- Short neck [HPO term]
- T-cell lymphoma [HPO term]
See also inter- (CISMeF)
- POLE wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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