Details of Disease

General Information of Disease (ID: DISLNT6G)

• Disease Name: Seckel syndrome 1
• Synonyms: Bird-headed dwarfism; nanocephalic dwarfism; Sckl; Seckel-type dwarfism; microcephalic primordial dwarfism 1; ATR Seckel syndrome; microcephalic primordial dwarfism I; Seckel syndrome 3; Seckel syndrome 1; SCKL1; Seckel syndrome type 1; Seckel syndrome caused by mutation in ATR
• Definition: Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.
• Disease Hierarchy:
  DISEVUBA: Seckel syndrome
  DISLNT6G: Seckel syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0008869
  MESH ID: C537533
  UMLS CUI: C4551474
  OMIM ID: 210600
  MedGen ID: 1637056

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATR	TT8ZYBQ	Strong	Altered Expression	[1]
ATR	TT8ZYBQ	Definitive	Autosomal recessive	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CEP152	OTOKZR9B	Strong	Biomarker	[3]
ATR	OTH0OP1J	Definitive	Autosomal recessive	[2]
PCNT	OTW4Z65J	Definitive	Biomarker	[4]

References

• [1] Mice hypomorphic for Atr have increased DNA damage and abnormal checkpoint response.Mamm Genome. 2009 Jun;20(6):375-85. doi: 10.1007/s00335-009-9195-4. Epub 2009 Jun 7.
• [2] Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. PLoS Genet. 2012;8(11):e1002945. doi: 10.1371/journal.pgen.1002945. Epub 2012 Nov 8.
• [3] CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011 Jan;43(1):23-6. doi: 10.1038/ng.725. Epub 2010 Dec 5.
• [4] Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet. 2008 Feb;40(2):232-6. doi: 10.1038/ng.2007.80. Epub 2007 Dec 23.