Details of Disease

General Information of Disease (ID: DISVK1YW)

Disease Name Lobar holoprosencephaly
Definition
Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.
Disease Hierarchy
DISR35EC: Holoprosencephaly
DISVK1YW: Lobar holoprosencephaly
Disease Identifiers
MONDO ID
MONDO_0019756
MESH ID
D016142
UMLS CUI
C0431362
MedGen ID
96559
HPO ID
HP:0006870
Orphanet ID
93924
SNOMED CT ID
253136007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FGFR1 TTRLW2X moderate Genetic Variation [1]
GLI2 TT045OH Strong Biomarker [2]
NODAL TTK2O1Q Definitive Biomarker [3]
SHH TTIENCJ Definitive Biomarker [2]
TDGF1 TTN7HMG Definitive Biomarker [4]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STIL OT9799VN moderate Genetic Variation [5]
GAS1 OTKJXG52 Strong Biomarker [6]
RAD51C OTUD6SY5 Strong Biomarker [7]
SIX3 OTP5E3VU Strong Biomarker [8]
TGIF1 OTN9VHAG Definitive Biomarker [9]
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References

1 Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.Hum Mutat. 2016 Dec;37(12):1329-1339. doi: 10.1002/humu.23038. Epub 2016 Aug 23.
2 Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.Dis Model Mech. 2016 Nov 1;9(11):1307-1315. doi: 10.1242/dmm.026328. Epub 2016 Sep 1.
3 NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.Dis Model Mech. 2013 Mar;6(2):537-43. doi: 10.1242/dmm.010132. Epub 2012 Dec 20.
4 A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.Hum Genet. 2002 May;110(5):422-8. doi: 10.1007/s00439-002-0709-3. Epub 2002 Apr 10.
5 STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.Hum Genet. 2015 Jan;134(1):45-51. doi: 10.1007/s00439-014-1487-4. Epub 2014 Sep 14.
6 Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.J Clin Invest. 2007 Jun;117(6):1575-84. doi: 10.1172/JCI32032. Epub 2007 May 24.
7 Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.Eur J Med Genet. 2018 May;61(5):257-261. doi: 10.1016/j.ejmg.2017.12.011. Epub 2017 Dec 24.
8 Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet. 1999 Jun;22(2):196-8. doi: 10.1038/9718.
9 Embryonic fibroblasts from mice lacking Tgif were defective in cell cycling.Mol Cell Biol. 2006 Jun;26(11):4302-10. doi: 10.1128/MCB.02156-05.