Details of Disease

General Information of Disease (ID: DISON1K9)

Disease Name Alobar holoprosencephaly
Definition Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.
Disease Hierarchy
DISR35EC: Holoprosencephaly
DISON1K9: Alobar holoprosencephaly
Disease Identifiers
MONDO ID
MONDO_0019757
MESH ID
D016142
UMLS CUI
C0431363
MedGen ID
140909
HPO ID
HP:0006988
Orphanet ID
93925
SNOMED CT ID
253137003

Molecular Interaction Atlas (MIA) of This Disease

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

1 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.
2 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.
3 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.
4 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.
5 Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet. 1999 Jun;22(2):196-8. doi: 10.1038/9718.
6 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.