Details of Disease | DrugMAP

General Information of Disease (ID: DISSIC47)

Disease Name	Curry-Jones syndrome
Synonyms	CRJS; corpus callosum agenesis polysyndactyly; curry-JONES syndrome; craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development; curry Jones syndrome; Curry-Jones syndrome, somatic mosaic; curry-Jones syndrome; corpus callosum agenesis-polysyndactyly syndrome
Definition	Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DISEUVBK: Syndromic craniosynostosis DISSIC47: Curry-Jones syndrome
Disease Identifiers	MONDO ID MONDO_0011134 MESH ID C536735 UMLS CUI C0795915 OMIM ID 601707 MedGen ID 167083 Orphanet ID 1553 SNOMED CT ID 720819006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SMO	TT8J1S3	Limited	Genetic Variation	[1]
SMO	TTW6JVU	Definitive	Somatic mosaicism	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMO	OTXXE208	Definitive	Somatic mosaicism	[2]
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References

1	Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome.Clin Genet. 2020 Apr;97(4):670-671. doi: 10.1111/cge.13681. Epub 2019 Dec 11.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.