Corpus callosum, agenesis of, with abnormal genitalia

Preferred Label : Corpus callosum, agenesis of, with abnormal genitalia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acc with abnormal genitalia; Proud syndrome;

Description : Proud syndrome is an X-linked developmental disorder characterized by agenesis of the corpus callosum, severe mental retardation, seizures, and spasticity. Males are severely affected, whereas females may be unaffected or have a milder phenotype (Proud et al., 1992). Proud syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome to infantile spasms without brain malformations (EIEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008).;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the X-linked aristaless-related homeobox gene (ARX, 300382.0015);

Prefixed ID : #300004;

Details

Origin ID

300004;

UMLS CUI

C0796124;

Currated CISMeF NLP mapping
- Agenesis of corpus callosum and abnormal genitalia syndrome (disorder) [SNOMED CT concept]
- Corpus callosum agenesis-abnormal genitalia syndrome [ORDO Disease]
- corpus callosum agenesis-abnormal genitalia syndrome [DO Concept]
- proud syndrome [MeSH concept]
- proud syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Aristaless-related homeobox, X-linked [OMIM gene]
HPO term(s)
- Abnormally large globe [HPO term]
- Agenesis of corpus callosum [HPO term]
- Broad alveolar ridges [HPO term]
- Coarse facial features [HPO term]
- Cryptorchidism [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hirsutism [HPO term]
- Hyperconvex nail [HPO term]
- Hypospadias [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Limb joint contracture [HPO term]
- Low anterior hairline [HPO term]
- Microcephaly [HPO term]
- Microcephaly, acquired [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Overlapping toe [HPO term]
- Prominent ears [HPO term]
- Prominent supraorbital ridges [HPO term]
- Protruding ear [HPO term]
- Quadriplegia [HPO term]
- Renal dysplasia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spastic tetraplegia [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Tapered finger [HPO term]
- Tetraplegia [HPO term]
- Visual impairment [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Corpus callosum agenesis-abnormal genitalia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Agenesis of corpus callosum and abnormal genitalia syndrome (disorder) [SNOMED CT concept]
- Corpus callosum agenesis-abnormal genitalia syndrome [ORDO Disease]
- proud syndrome [MeSH Supplementary Concept]
- proud syndrome [MeSH concept]

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