Details of Disease

General Information of Disease (ID: DISOGW88)

• Disease Name: IMAGe syndrome
• Synonyms: intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies; intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies; intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities; intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome
• Definition: IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.
• Disease Hierarchy:
  DISZ93BO: Primordial dwarfism and slender bone disorder
  DIS6SVEE: Syndromic disease
  DISOGW88: IMAGe syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013873
  MESH ID: C564543
  UMLS CUI: C1846009
  OMIM ID: 614732
  MedGen ID: 337364
  Orphanet ID: 85173
  SNOMED CT ID: 702384004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDKN1C	TTBSUAR	Limited	Biomarker	[1]
CDKN1C	TTBSUAR	Definitive	Autosomal dominant	[2]
SGPL1	TT618Q2	Definitive	Genetic Variation	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POLE	OTFM3MMU	Supportive	Autosomal dominant	[4]
SAMD9	OTDG48P0	moderate	Genetic Variation	[1]
CDKN1C	OTASTJ3Q	Definitive	Autosomal dominant	[2]

References

• [1] Primary adrenal insufficiency: New genetic causes and their long-term consequences.Clin Endocrinol (Oxf). 2020 Jan;92(1):11-20. doi: 10.1111/cen.14109. Epub 2019 Oct 30.
• [2] Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275.
• [3] MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction.Eur J Endocrinol. 2017 Sep;177(3):R99-R111. doi: 10.1530/EJE-17-0128. Epub 2017 Apr 27.
• [4] DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29.