Details of Disease

General Information of Disease (ID: DISQ50MY)

• Disease Name: Corpus callosum agenesis-abnormal genitalia syndrome
• Synonyms: Proud Levine Carpenter syndrome; ACC with abnormal genitalia; New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum; corpus callosum, agenesis of, with abnormal genitalia; microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Proud-Levine-Carpenter syndrome
• Definition: Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISQ50MY: Corpus callosum agenesis-abnormal genitalia syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010224
  MESH ID: C563110
  UMLS CUI: C0796124
  OMIM ID: 300004
  MedGen ID: 163217
  Orphanet ID: 2508
  SNOMED CT ID: 763797003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARX	OTBGYH25	Supportive	X-linked	[1]

References

• [1] Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004 Feb;23(2):147-159. doi: 10.1002/humu.10310.