Details of Disease | DrugMAP

General Information of Disease (ID: DISBJX9D)

Disease Name	Craniosynostosis 2
Synonyms	Warman Mulliken Hayward syndrome; craniosynostosis Warman type; MSX2-related craniosynostosis; Warman-Mulliken-Hayward syndrome; craniosynostosis type 2; craniosynostosis 2; CRS2; craniosynostosis, Warman type
Definition	A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.
Disease Hierarchy	DISEUVBK: Syndromic craniosynostosis DISBJX9D: Craniosynostosis 2
Disease Identifiers	MONDO ID MONDO_0011481 MESH ID C565753 UMLS CUI C1858160 OMIM ID 604757 MedGen ID 346753 Orphanet ID 1541 SNOMED CT ID 720817008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATAT1	TTWUHQ1	Strong	Altered Expression	[1]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CSH1	OT33HTRR	Strong	Biomarker	[2]
CSH2	OTW8JVAN	Strong	Biomarker	[2]
ERCC6	OT2QZKSF	Strong	Biomarker	[2]
ERCC8	OT0T4WKI	Strong	Biomarker	[2]
PGBD3	OTV3I2W1	Strong	Biomarker	[3]
MSX2	OT1WDKE1	Definitive	Autosomal dominant	[4]
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⏷ Show the Full List of 6 DOT(s)

References

1	HDAC inhibition improves autophagic and lysosomal function to prevent loss of subcutaneous fat in a mouse model of Cockayne syndrome.Sci Transl Med. 2018 Aug 29;10(456):eaam7510. doi: 10.1126/scitranslmed.aam7510.
2	Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.Pediatr Neurol. 2015 Sep;53(3):262-5. doi: 10.1016/j.pediatrneurol.2015.06.006. Epub 2015 Jun 14.
3	Tethering of the conserved piggyBac transposase fusion protein CSB-PGBD3 to chromosomal AP-1 proteins regulates expression of nearby genes in humans.PLoS Genet. 2012 Sep;8(9):e1002972. doi: 10.1371/journal.pgen.1002972. Epub 2012 Sep 27.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.