HPE2
MCID: HLP024
MIFTS: 49

Holoprosencephaly 2 (HPE2)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Holoprosencephaly 2

MalaCards integrated aliases for Holoprosencephaly 2:

Name: Holoprosencephaly 2 56 12 73 29 6 15 71
Hpe2 56 12 73
Holoprosencephaly-2 73 13
Holoprosencephaly, Type 2 39

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance
variable severity
genetic heterogeneity
spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain

Inheritance:
autosomal dominant


HPO:

31
holoprosencephaly 2:
Inheritance autosomal dominant inheritance heterogeneous sporadic
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



Summaries for Holoprosencephaly 2

UniProtKB/Swiss-Prot : 73 Holoprosencephaly 2: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.

MalaCards based summary : Holoprosencephaly 2, also known as hpe2, is related to alobar holoprosencephaly and holoprosencephaly, and has symptoms including seizures An important gene associated with Holoprosencephaly 2 is SIX3 (SIX Homeobox 3), and among its related pathways/superpathways are Signaling by Hedgehog and Mesodermal Commitment Pathway. Affiliated tissues include brain, pituitary and bone, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A holoprosencephaly that has material basis in mutation in the homeobox-containing SIX3 gene on chromosome 2p21.

More information from OMIM: 157170 PS236100

Related Diseases for Holoprosencephaly 2

Diseases in the Holoprosencephaly family:

Holoprosencephaly 3 Holoprosencephaly 4
Holoprosencephaly 2 Holoprosencephaly 1
Holoprosencephaly 6 Holoprosencephaly 8
Holoprosencephaly 5 Holoprosencephaly 7
Holoprosencephaly 9 Holoprosencephaly 11
Nonsyndromic Holoprosencephaly

Diseases related to Holoprosencephaly 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 alobar holoprosencephaly 27.5 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
2 holoprosencephaly 27.4 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
3 central nervous system lipoma 10.2 ZIC2 SIX3
4 holoprosencephaly, recurrent infections, and monocytosis 10.2 SIX3 GLI2
5 holoprosencephaly 8 10.2 ZIC2 DISP1
6 melanotic medulloblastoma 10.1 SHH GLI2
7 progressive myoclonus epilepsy 1b 10.1 PRICKLE1 DISP1
8 nodular medulloblastoma 10.1 SHH GLI2
9 holoprosencephaly 7 10.0 ZIC2 SIX3 DISP1
10 chromosome 17q23.1-q23.2 deletion syndrome 10.0 PRICKLE1 DISP1
11 adult medulloblastoma 10.0 SHH GLI2
12 schizencephaly 10.0 SIX3 SHH
13 orofaciodigital syndrome viii 10.0 ZIC2 SIX3 DISP1
14 anus, imperforate 10.0 SHH GLI2
15 colobomatous microphthalmia 10.0 SIX3 SHH
16 anencephaly 9.9 ZIC2 SIX3 PRICKLE1
17 septooptic dysplasia 9.9 SIX3 SHH GLI2
18 hypopituitarism 9.9 SIX3 SHH GLI2
19 corpus callosum lipoma 9.7 ZIC2 SIX3 SHH GLI2
20 cerebral hemisphere lipoma 9.7 ZIC2 SIX3 SHH GLI2
21 pallister-hall syndrome 9.7 ZIC2 SIX3 SHH GLI2
22 congenital nervous system abnormality 9.7 ZIC2 SIX3 SHH GLI2
23 pituitary stalk interruption syndrome 9.7 SHH CDON
24 physical disorder 9.7 ZIC2 SIX3 SHH GLI2
25 orofacial cleft 9.7 ZIC2 SIX3 SHH GLI2
26 esophageal atresia 9.7 SHH GLI2
27 greig cephalopolysyndactyly syndrome 9.5 SHH GLI2 CDON
28 basal cell nevus syndrome 9.5 SHH GLI2 CDON
29 brachydactyly, type a1 9.5 SHH CDON
30 holoprosencephaly 3 9.5 ZIC2 SIX3 SHH GLI2 DISP1
31 patau syndrome 9.4 ZIC2 SIX3 SHH FOXH1 DISP1
32 culler-jones syndrome 9.3 SIX3 SHH GLI2 CDON
33 holoprosencephaly 1 9.1 ZIC2 SIX3 SHH GLI2 CDON
34 coloboma of macula 9.1 ZIC2 SIX3 SHH GLI2 CDON
35 solitary median maxillary central incisor 8.9 ZIC2 SIX3 SHH GLI2 DISP1 CDON
36 lobar holoprosencephaly 8.5 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
37 midline interhemispheric variant of holoprosencephaly 8.5 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
38 semilobar holoprosencephaly 8.5 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
39 septopreoptic holoprosencephaly 8.5 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
40 microform holoprosencephaly 8.5 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
41 holoprosencephaly 11 8.5 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
42 holoprosencephaly 9 8.5 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
43 holoprosencephaly 5 8.5 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
44 holoprosencephaly 4 8.5 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1

Graphical network of the top 20 diseases related to Holoprosencephaly 2:



Diseases related to Holoprosencephaly 2

Symptoms & Phenotypes for Holoprosencephaly 2

Human phenotypes related to Holoprosencephaly 2:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 muscular hypotonia 31 HP:0001252
4 scoliosis 31 HP:0002650
5 microcephaly 31 HP:0000252
6 diabetes insipidus 31 HP:0000873
7 microphthalmia 31 HP:0000568
8 holoprosencephaly 31 HP:0001360
9 constipation 31 HP:0002019
10 malar flattening 31 HP:0000272
11 agenesis of corpus callosum 31 HP:0001274
12 hypotelorism 31 HP:0000601
13 midface retrusion 31 HP:0011800
14 cerebellar hypoplasia 31 HP:0001321
15 single median maxillary incisor 31 HP:0006315
16 median cleft lip and palate 31 HP:0008501
17 cyclopia 31 HP:0009914
18 bifid uvula 31 HP:0000193
19 submucous cleft hard palate 31 HP:0000176
20 generalized hypotonia 31 HP:0001290
21 adrenal hypoplasia 31 HP:0000835
22 absent nasal septal cartilage 31 HP:0005273
23 aplasia of the nose 31 HP:0009927
24 anterior pituitary agenesis 31 HP:0010626
25 single ventricle 31 HP:0001750
26 proboscis 31 HP:0012806
27 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
cerebellar hypoplasia
hypotonia
developmental delay
agenesis of the corpus callosum
more
Endocrine Features:
diabetes insipidus
endocrine dysgenesis
pituitary agenesis
hypophyseal agenesis
hypothalamic dysfunction
more
Head And Neck Face:
midface hypoplasia
premaxillary agenesis

Head And Neck Mouth:
median cleft lip/palate

Head And Neck Head:
microcephaly

Head And Neck Eyes:
microphthalmia
cyclopia
ocular hypotelorism
colobomata
varying degrees of doubling of intrinsic ocular structures

Head And Neck Nose:
arrhinia
blind-ending proboscis
agenesis of nasal bones

Head And Neck Teeth:
central incisor

Clinical features from OMIM:

157170

UMLS symptoms related to Holoprosencephaly 2:


seizures

GenomeRNAi Phenotypes related to Holoprosencephaly 2 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.4 PRICKLE1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.4 POLE2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.4 CHML
4 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.4 CHML
5 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.4 CHML
6 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.4 CHML
7 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.4 CHML
8 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.4 POLE2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.4 POLE2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.4 CHML
11 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.4 PRICKLE1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.4 CHML

MGI Mouse Phenotypes related to Holoprosencephaly 2:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.11 CDON DISP1 FOXH1 GLI2 PRICKLE1 SHH
2 digestive/alimentary MP:0005381 10.1 CDON DISP1 FOXH1 GLI2 PRICKLE1 SHH
3 embryo MP:0005380 10.08 CDON DISP1 FOXH1 GLI2 PRICKLE1 SHH
4 growth/size/body region MP:0005378 10.06 CDON DISP1 FOXH1 GLI2 PRICKLE1 SHH
5 mortality/aging MP:0010768 10.02 CDON DISP1 FOXH1 GLI2 POLE2 PRICKLE1
6 nervous system MP:0003631 9.91 CDON DISP1 FOXH1 GLI2 POLE2 PRICKLE1
7 limbs/digits/tail MP:0005371 9.88 CDON DISP1 GLI2 PRICKLE1 SHH ZIC2
8 respiratory system MP:0005388 9.76 CDON DISP1 FOXH1 GLI2 PRICKLE1 SHH
9 hearing/vestibular/ear MP:0005377 9.73 FOXH1 GLI2 PRICKLE1 SHH
10 muscle MP:0005369 9.72 DISP1 FOXH1 GLI2 PRICKLE1 SHH
11 skeleton MP:0005390 9.56 CDON DISP1 FOXH1 GLI2 PRICKLE1 SHH
12 vision/eye MP:0005391 9.23 CDON DISP1 FOXH1 GLI2 PRICKLE1 SHH

Drugs & Therapeutics for Holoprosencephaly 2

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 2

Genetic Tests for Holoprosencephaly 2

Genetic tests related to Holoprosencephaly 2:

# Genetic test Affiliating Genes
1 Holoprosencephaly 2 29 SIX3

Anatomical Context for Holoprosencephaly 2

MalaCards organs/tissues related to Holoprosencephaly 2:

40
Brain, Pituitary, Bone, Adrenal Gland, Testes, Olfactory Bulb

Publications for Holoprosencephaly 2

Articles related to Holoprosencephaly 2:

(show all 41)
# Title Authors PMID Year
1
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 6 61 56
10369266 1999
2
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. 6 56
19346217 2009
3
A novel SIX3 mutation segregates with holoprosencephaly in a large family. 56 6
19353631 2009
4
SIX3 mutations with holoprosencephaly. 56 6
17001667 2006
5
Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. 6 61
15523651 2004
6
A new mutation in the six-domain of SIX3 gene causes holoprosencephaly. 61 6
11039582 2000
7
Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21. 56 61
8824878 1996
8
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. 56
21976454 2011
9
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. 56
21940735 2011
10
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. 56
20531442 2010
11
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. 6
20157829 2010
12
Mutations in the human SIX3 gene in holoprosencephaly are loss of function. 6
18791198 2008
13
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. 56
16199538 2006
14
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. 56
16323008 2006
15
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 56
15221788 2004
16
Holoprosencephaly Overview 6
20301702 2000
17
Segregation analysis in nonsyndromic holoprosencephaly. 56
9605287 1998
18
Forebrain cleavage gene causing holoprosencephaly: deletion mapping to chromosome band 2p21. 56
1887845 1991
19
Agenesis of the nasal septal cartilage: another sign in autosomal dominant holoprosencephaly. 56
1844347 1991
20
Prenatal detection of cyclopia associated with interstitial deletion of 2p. 56
2817010 1989
21
Autosomal dominant inheritance of the DeMyer Sequence. 56
3209682 1988
22
Recurrence of holoprosencephaly in families with a positive history. 56
6652942 1983
23
Dominant inheritance of holoprosencephaly. 56
728563 1978
24
An autosomal dominant midline cleft syndrome resembling familial holoprosencephaly. 56
891015 1977
25
Perinatal mortality in Japanese women diagnosed with gestational diabetes mellitus and diabetes mellitus. 61
28817202 2017
26
Multichannel visual evoked potentials in the assessment of visual pathways in children with marked brain abnormalities. 61
28089743 2017
27
Maturation and Dysgenesis of the Human Olfactory Bulb. 61
26096058 2016
28
Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis. 61
26064910 2015
29
Evaluation and prevalence of major central nervous system malformations: a retrospective study. 61
28058307 2014
30
Pattern of childhood neuronal migrational disorders in Oman. 61
21048602 2009
31
Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy. 61
18467267 2008
32
Synthesis and antifungal activity of five classes of diamines. 61
14971680 2004
33
Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children. 61
14671155 2003
34
Effects of a methanolic extract and a hyperforin-enriched CO2 extract of Hypericum perforatum on alcohol intake in rats. 61
11373255 2001
35
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. 61
10512683 1999
36
Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum. 61
10048603 1999
37
Infantile hydrocephalus in southern saudi arabia. 61
23008576 1997
38
Central nervous system malformations in the CHARGE association. 61
2260555 1990
39
Histopathological study of alobar holoprosencephaly. 2. Marginal glioneural heterotopia and other gliomesenchymal abnormalities. 61
2750488 1989
40
[Cerebral ultrasound diagnosis in brain abnormalities]. 61
3796635 1986
41
Mechanism of oxygen transfer by prostaglandin hydroperoxidase. 61
7356613 1980

Variations for Holoprosencephaly 2

ClinVar genetic disease variations for Holoprosencephaly 2:

6 (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SIX3 NM_005413.4(SIX3):c.441_451del (p.Leu148fs)deletion Pathogenic 545576 rs1553337688 2:45169683-45169693 2:44942544-44942554
2 SIX3 NM_005413.4(SIX3):c.507G>A (p.Trp169Ter)SNV Pathogenic 579427 rs1558420022 2:45169750-45169750 2:44942611-44942611
3 SIX3 NM_005413.4(SIX3):c.676C>G (p.Leu226Val)SNV Pathogenic 6093 rs121917878 2:45169919-45169919 2:44942780-44942780
4 SIX3 NM_005413.4(SIX3):c.770G>C (p.Arg257Pro)SNV Pathogenic 6094 rs121917879 2:45170013-45170013 2:44942874-44942874
5 SIX3 NM_005413.4(SIX3):c.749T>C (p.Val250Ala)SNV Pathogenic 6095 rs121917880 2:45169992-45169992 2:44942853-44942853
6 SIX3 NM_005413.4(SIX3):c.556_557dup (p.Pro187fs)duplication Pathogenic 6096 2:45169798-45169799 2:44942659-44942660
7 SIX3 NM_005413.4(SIX3):c.339G>T (p.Trp113Cys)SNV Pathogenic 6099 rs137853021 2:45169582-45169582 2:44942443-44942443
8 SIX3 NM_005413.4(SIX3):c.385G>T (p.Glu129Ter)SNV Pathogenic 30380 rs387906867 2:45169628-45169628 2:44942489-44942489
9 SIX3 NM_005413.4(SIX3):c.696_705del (p.Asn232fs)deletion Pathogenic 65501 rs397515502 2:45169939-45169948 2:44942800-44942809
10 SIX3 NM_005413.4(SIX3):c.369G>A (p.Glu123=)SNV Conflicting interpretations of pathogenicity 284060 rs200331042 2:45169612-45169612 2:44942473-44942473
11 SIX3 NM_005413.4(SIX3):c.127G>T (p.Gly43Cys)SNV Uncertain significance 498633 rs1436891421 2:45169370-45169370 2:44942231-44942231
12 SIX3 NM_005413.4(SIX3):c.887C>G (p.Ser296Trp)SNV Uncertain significance 532826 rs751280287 2:45171787-45171787 2:44944648-44944648
13 SIX3 NM_005413.4(SIX3):c.169G>T (p.Gly57Cys)SNV Uncertain significance 545577 rs1344650194 2:45169412-45169412 2:44942273-44942273
14 SIX3 NM_005413.4(SIX3):c.961C>T (p.Leu321Phe)SNV Uncertain significance 836725 2:45171861-45171861 2:44944722-44944722
15 SIX3 NM_005413.4(SIX3):c.206G>A (p.Gly69Asp)SNV Uncertain significance 487087 rs121917881 2:45169449-45169449 2:44942310-44942310
16 SIX3 NM_005413.4(SIX3):c.52A>T (p.Asn18Tyr)SNV Uncertain significance 566334 rs551637040 2:45169295-45169295 2:44942156-44942156
17 SIX3 NM_005413.4(SIX3):c.338G>C (p.Trp113Ser)SNV Uncertain significance 664413 2:45169581-45169581 2:44942442-44942442
18 SIX3 NM_005413.4(SIX3):c.96C>T (p.Ser32=)SNV Likely benign 697780 2:45169339-45169339 2:44942200-44942200
19 SIX3 NM_005413.4(SIX3):c.807-7C>TSNV Likely benign 703294 2:45171700-45171700 2:44944561-44944561
20 SIX3 NM_005413.4(SIX3):c.525G>A (p.Gln175=)SNV Benign/Likely benign 193311 rs116680477 2:45169768-45169768 2:44942629-44942629
21 SIX3 NM_005413.4(SIX3):c.720G>T (p.Ala240=)SNV Benign/Likely benign 259762 rs191012035 2:45169963-45169963 2:44942824-44942824
22 SIX3 NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)SNV Benign/Likely benign 30381 rs199823175 2:45169352-45169352 2:44942213-44942213
23 SIX3 NM_005413.4(SIX3):c.219C>T (p.Pro73=)SNV Benign/Likely benign 65493 rs186163123 2:45169462-45169462 2:44942323-44942323
24 SIX3 NM_005413.4(SIX3):c.576C>T (p.Arg192=)SNV Benign 65500 rs182881 2:45169819-45169819 2:44942680-44942680
25 SIX3 NM_005413.4(SIX3):c.90G>T (p.Ala30=)SNV Benign 65505 rs78018362 2:45169333-45169333 2:44942194-44942194
26 SIX3:c.942G>ASNV Benign 65506
27 SIX3 NM_005413.4(SIX3):c.909G>C (p.Pro303=)SNV Benign 723116 2:45171809-45171809 2:44944670-44944670
28 SIX3 NM_005413.4(SIX3):c.348C>T (p.Pro116=)SNV Benign 586592 rs573768953 2:45169591-45169591 2:44942452-44942452
29 SIX3 NM_005413.4(SIX3):c.396_397GC[7] (p.Val137fs)short repeat no interpretation for the single variant 487086 rs753473749 2:45169638-45169639 2:44942499-44942500

UniProtKB/Swiss-Prot genetic disease variations for Holoprosencephaly 2:

73 (show all 31)
# Symbol AA change Variation ID SNP ID
1 SIX3 p.Leu226Val VAR_003771 rs121917878
2 SIX3 p.Val250Ala VAR_003772 rs121917880
3 SIX3 p.Arg257Pro VAR_003773 rs121917879
4 SIX3 p.Val92Gly VAR_023797
5 SIX3 p.Ile105Val VAR_023798
6 SIX3 p.His173Pro VAR_023799
7 SIX3 p.Thr202Ile VAR_023800
8 SIX3 p.Pro231Arg VAR_023801
9 SIX3 p.Arg257Trp VAR_023802
10 SIX3 p.Gly69Asp VAR_038418 rs121917881
11 SIX3 p.Met79Val VAR_071336
12 SIX3 p.Ala93Asp VAR_071337
13 SIX3 p.Trp113Cys VAR_071338 rs137853021
14 SIX3 p.Ser114Leu VAR_071339
15 SIX3 p.Val138Asp VAR_071340
16 SIX3 p.Phe157Ile VAR_071342
17 SIX3 p.Ala172Val VAR_071344
18 SIX3 p.Tyr174His VAR_071345
19 SIX3 p.Phe213Val VAR_071346
20 SIX3 p.Arg218Pro VAR_071347
21 SIX3 p.Arg218Trp VAR_071348
22 SIX3 p.Gln227Pro VAR_071349
23 SIX3 p.Gly244Cys VAR_071350 rs989286015
24 SIX3 p.Phe254Leu VAR_071351
25 SIX3 p.Arg257Gly VAR_071352
26 SIX3 p.Arg258Leu VAR_071353
27 SIX3 p.Arg262His VAR_071354
28 SIX3 p.Arg269Met VAR_071355
29 SIX3 p.Arg269Ser VAR_071356
30 SIX3 p.Arg269Thr VAR_071357
31 SIX3 p.Pro297Leu VAR_071358 rs780942050

Expression for Holoprosencephaly 2

Search GEO for disease gene expression data for Holoprosencephaly 2.

Pathways for Holoprosencephaly 2

GO Terms for Holoprosencephaly 2

Biological processes related to Holoprosencephaly 2 according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10 ZIC2 SIX3 SHH GLI2 DISP1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.99 SIX3 SHH GLI2 FOXH1 CDON
3 positive regulation of transcription, DNA-templated GO:0045893 9.93 ZIC2 SHH GLI2 FOXH1
4 embryonic digit morphogenesis GO:0042733 9.66 SHH GLI2
5 odontogenesis of dentin-containing tooth GO:0042475 9.65 SHH GLI2
6 negative regulation of Wnt signaling pathway GO:0030178 9.65 SIX3 SHH
7 pattern specification process GO:0007389 9.65 SHH GLI2
8 lens development in camera-type eye GO:0002088 9.64 SIX3 CDON
9 cell fate specification GO:0001708 9.64 SHH CDON
10 pituitary gland development GO:0021983 9.63 SIX3 GLI2
11 determination of left/right symmetry GO:0007368 9.63 SHH FOXH1 DISP1
12 developmental growth GO:0048589 9.62 SHH GLI2
13 hair follicle morphogenesis GO:0031069 9.62 SHH GLI2
14 embryonic pattern specification GO:0009880 9.61 SHH DISP1
15 branching morphogenesis of an epithelial tube GO:0048754 9.61 SHH GLI2
16 smoothened signaling pathway GO:0007224 9.61 SHH GLI2 CDON
17 spinal cord motor neuron differentiation GO:0021522 9.58 SHH GLI2
18 hindbrain development GO:0030902 9.58 SHH GLI2
19 embryonic morphogenesis GO:0048598 9.57 SHH CDON
20 striated muscle cell differentiation GO:0051146 9.56 SHH CDON
21 osteoblast development GO:0002076 9.55 SHH GLI2
22 anatomical structure formation involved in morphogenesis GO:0048646 9.54 SHH GLI2
23 anatomical structure development GO:0048856 9.54 SIX3 SHH GLI2
24 dorsal/ventral neural tube patterning GO:0021904 9.52 SHH GLI2
25 positive regulation of T cell differentiation in thymus GO:0033089 9.51 SHH GLI2
26 positive regulation of skeletal muscle tissue development GO:0048643 9.49 SHH CDON
27 telencephalon regionalization GO:0021978 9.48 SIX3 SHH
28 spinal cord dorsal/ventral patterning GO:0021513 9.4 SHH GLI2
29 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.32 SHH GLI2
30 hindgut morphogenesis GO:0007442 9.26 SHH GLI2
31 ventral midline development GO:0007418 9.16 SHH GLI2
32 dorsal/ventral pattern formation GO:0009953 9.13 SHH GLI2 DISP1
33 anterior/posterior pattern specification GO:0009952 8.92 SHH GLI2 FOXH1 CDON

Molecular functions related to Holoprosencephaly 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 8.92 ZIC2 SIX3 GLI2 FOXH1

Sources for Holoprosencephaly 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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