HPE2
MCID: HLP024
MIFTS: 49

Holoprosencephaly 2 (HPE2)

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

Aliases & Classifications for Holoprosencephaly 2

MalaCards integrated aliases for Holoprosencephaly 2:

Name: Holoprosencephaly 2 57 12 73 29 6 15 71
Hpe2 57 12 73
Holoprosencephaly-2 73 13
Holoprosencephaly, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 Mesodermal Commitment Pathway and Heart Development. Affiliated tissues include pituitary, brain and olfactory bulb, and related phenotypes are intellectual disability and agenesis of corpus callosum

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 28.6 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
2 holoprosencephaly 28.6 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
3 central nervous system lipoma 10.2 ZIC2 SIX3
4 chromosome 18p deletion syndrome 10.1 ZIC2 SIX3
5 holoprosencephaly 8 10.1 ZIC2 DISP1
6 holoprosencephaly, recurrent infections, and monocytosis 10.1 SIX3 GLI2
7 melanotic medulloblastoma 10.1 SHH GLI2
8 schizencephaly 10.1 SIX3 SHH
9 nodular medulloblastoma 10.0 SHH GLI2
10 adult medulloblastoma 10.0 SHH GLI2
11 greig cephalopolysyndactyly syndrome 10.0 SHH GLI2
12 orofaciodigital syndrome viii 10.0 ZIC2 SIX3 DISP1
13 progressive myoclonus epilepsy 1b 10.0 PRICKLE1 DISP1
14 anus, imperforate 10.0 SHH GLI2
15 colobomatous microphthalmia 10.0 SIX3 SHH
16 chromosome 17q23.1-q23.2 deletion syndrome 10.0 PRICKLE1 DISP1
17 esophageal atresia 10.0 SHH GLI2
18 skeletal muscle cancer 9.9 SHH GLI2
19 coloboma of macula 9.9 ZIC2 SIX3 SHH
20 septooptic dysplasia 9.9 SIX3 SHH GLI2
21 hypopituitarism 9.9 SIX3 SHH GLI2
22 unverricht-lundborg syndrome 9.8 PRICKLE1 DISP1
23 holoprosencephaly 1 9.8 ZIC2 SIX3 SHH GLI2
24 corpus callosum lipoma 9.7 ZIC2 SIX3 SHH GLI2
25 cerebral hemisphere lipoma 9.7 ZIC2 SIX3 SHH GLI2
26 culler-jones syndrome 9.7 ZIC2 SIX3 SHH GLI2
27 pallister-hall syndrome 9.7 ZIC2 SIX3 SHH GLI2
28 congenital nervous system abnormality 9.7 ZIC2 SIX3 SHH GLI2
29 physical disorder 9.7 ZIC2 SIX3 SHH GLI2
30 orofacial cleft 9.7 ZIC2 SIX3 SHH GLI2
31 anencephaly 9.7 SIX3 PRICKLE1
32 holoprosencephaly 3 9.5 ZIC2 SIX3 SHH GLI2 DISP1
33 holoprosencephaly 4 9.5 ZIC2 SIX3 SHH FOXH1 DISP1
34 patau syndrome 9.5 ZIC2 SIX3 SHH FOXH1 DISP1
35 lobar holoprosencephaly 9.3 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
36 midline interhemispheric variant of holoprosencephaly 9.3 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
37 septopreoptic holoprosencephaly 9.3 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
38 microform holoprosencephaly 9.3 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
39 holoprosencephaly 11 9.3 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
40 holoprosencephaly 9 9.3 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
41 semilobar holoprosencephaly 9.3 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
42 holoprosencephaly 7 9.3 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
43 solitary median maxillary central incisor 9.3 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
44 holoprosencephaly 5 8.9 ZIC2 SIX3 SHH PRICKLE1 GLI2 FOXH1

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Holoprosencephaly 2:


seizures

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased IL-8 secretion GR00386-A-2 8.62 FOXH1 ZIC2

MGI Mouse Phenotypes related to Holoprosencephaly 2:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.18 DISP1 FOXH1 GLI2 POLE2 PRICKLE1 SHH
2 embryo MP:0005380 10.15 DISP1 FOXH1 GLI2 POLE2 PRICKLE1 SHH
3 digestive/alimentary MP:0005381 10.11 DISP1 FOXH1 GLI2 PRICKLE1 SHH SIX3
4 growth/size/body region MP:0005378 10.08 DISP1 FOXH1 GLI2 PRICKLE1 SHH SIX3
5 mortality/aging MP:0010768 10.06 DISP1 FOXH1 GLI2 POLE2 PRICKLE1 SHH
6 nervous system MP:0003631 9.97 DISP1 FOXH1 GLI2 POLE2 PRICKLE1 SHH
7 hearing/vestibular/ear MP:0005377 9.93 FOXH1 GLI2 POLE2 PRICKLE1 SHH SIX4
8 limbs/digits/tail MP:0005371 9.91 DISP1 GLI2 PRICKLE1 SHH SIX4 ZIC2
9 muscle MP:0005369 9.85 DISP1 FOXH1 GLI2 PRICKLE1 SHH SIX4
10 normal MP:0002873 9.73 DISP1 FOXH1 GLI2 SHH SIX4 ZIC2
11 respiratory system MP:0005388 9.7 DISP1 FOXH1 GLI2 PRICKLE1 SHH SIX3
12 skeleton MP:0005390 9.56 DISP1 FOXH1 GLI2 PRICKLE1 SHH SIX3
13 vision/eye MP:0005391 9.28 DISP1 FOXH1 GLI2 POLE2 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
Pituitary, Brain, Olfactory Bulb

Publications for Holoprosencephaly 2

Articles related to Holoprosencephaly 2:

(show all 40)
# Title Authors PMID Year
1
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 6 57 61
10369266 1999
2
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. 57 6
19346217 2009
3
A novel SIX3 mutation segregates with holoprosencephaly in a large family. 57 6
19353631 2009
4
SIX3 mutations with holoprosencephaly. 57 6
17001667 2006
5
Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. 61 6
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. 61 57
8824878 1996
8
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. 57
21976454 2011
9
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. 57
21940735 2011
10
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. 57
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. 57
16199538 2006
14
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. 57
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. 57
15221788 2004
16
Segregation analysis in nonsyndromic holoprosencephaly. 57
9605287 1998
17
Forebrain cleavage gene causing holoprosencephaly: deletion mapping to chromosome band 2p21. 57
1887845 1991
18
Agenesis of the nasal septal cartilage: another sign in autosomal dominant holoprosencephaly. 57
1844347 1991
19
Prenatal detection of cyclopia associated with interstitial deletion of 2p. 57
2817010 1989
20
Autosomal dominant inheritance of the DeMyer Sequence. 57
3209682 1988
21
Recurrence of holoprosencephaly in families with a positive history. 57
6652942 1983
22
Dominant inheritance of holoprosencephaly. 57
728563 1978
23
An autosomal dominant midline cleft syndrome resembling familial holoprosencephaly. 57
891015 1977
24
Perinatal mortality in Japanese women diagnosed with gestational diabetes mellitus and diabetes mellitus. 61
28817202 2017
25
Multichannel visual evoked potentials in the assessment of visual pathways in children with marked brain abnormalities. 61
28089743 2017
26
Maturation and Dysgenesis of the Human Olfactory Bulb. 61
26096058 2016
27
Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis. 61
26064910 2015
28
Evaluation and prevalence of major central nervous system malformations: a retrospective study. 61
28058307 2014
29
Pattern of childhood neuronal migrational disorders in Oman. 61
21048602 2009
30
Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy. 61
18467267 2008
31
Synthesis and antifungal activity of five classes of diamines. 61
14971680 2004
32
Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children. 61
14671155 2003
33
Effects of a methanolic extract and a hyperforin-enriched CO2 extract of Hypericum perforatum on alcohol intake in rats. 61
11373255 2001
34
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
35
Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum. 61
10048603 1999
36
Infantile hydrocephalus in southern saudi arabia. 61
23008576 1997
37
Central nervous system malformations in the CHARGE association. 61
2260555 1990
38
Histopathological study of alobar holoprosencephaly. 2. Marginal glioneural heterotopia and other gliomesenchymal abnormalities. 61
2750488 1989
39
[Cerebral ultrasound diagnosis in brain abnormalities]. 61
3796635 1986
40
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.749T>C (p.Val250Ala) SNV Pathogenic 6095 rs121917880 2:45169992-45169992 2:44942853-44942853
2 SIX3 NM_005413.4(SIX3):c.556_557dup (p.Pro187fs) Duplication Pathogenic 6096 rs1572624159 2:45169798-45169799 2:44942659-44942660
3 SIX3 NM_005413.4(SIX3):c.396_397GC[7] (p.Val137fs) Microsatellite Pathogenic 441532 rs753473749 2:45169638-45169639 2:44942499-44942500
4 SIX3 NM_005413.4(SIX3):c.339G>T (p.Trp113Cys) SNV Pathogenic 6099 rs137853021 2:45169582-45169582 2:44942443-44942443
5 SIX3 NM_005413.4(SIX3):c.385G>T (p.Glu129Ter) SNV Pathogenic 30380 rs387906867 2:45169628-45169628 2:44942489-44942489
6 SIX3 NM_005413.4(SIX3):c.507G>A (p.Trp169Ter) SNV Pathogenic 579427 rs1558420022 2:45169750-45169750 2:44942611-44942611
7 SIX3 NM_005413.4(SIX3):c.676C>G (p.Leu226Val) SNV Pathogenic 6093 rs121917878 2:45169919-45169919 2:44942780-44942780
8 SIX3 NM_005413.4(SIX3):c.696_705del (p.Asn232fs) Deletion Pathogenic 65501 rs397515502 2:45169939-45169948 2:44942800-44942809
9 SIX3 NM_005413.4(SIX3):c.441_451del (p.Leu148fs) Deletion Pathogenic 545576 rs1553337688 2:45169683-45169693 2:44942544-44942554
10 SIX3 NM_005413.4(SIX3):c.581G>C (p.Arg194Pro) SNV Likely pathogenic 989366 2:45169824-45169824 2:44942685-44942685
11 SIX3 NM_005413.4(SIX3):c.770G>C (p.Arg257Pro) SNV Likely pathogenic 6094 rs121917879 2:45170013-45170013 2:44942874-44942874
12 SIX3 NM_005413.4(SIX3):c.961C>T (p.Leu321Phe) SNV Uncertain significance 836725 2:45171861-45171861 2:44944722-44944722
13 SIX3 NM_005413.4(SIX3):c.887C>G (p.Ser296Trp) SNV Uncertain significance 532826 rs751280287 2:45171787-45171787 2:44944648-44944648
14 SIX3 NM_005413.4(SIX3):c.169G>T (p.Gly57Cys) SNV Uncertain significance 545577 rs1344650194 2:45169412-45169412 2:44942273-44942273
15 SIX3 NM_005413.4(SIX3):c.52A>T (p.Asn18Tyr) SNV Uncertain significance 566334 rs551637040 2:45169295-45169295 2:44942156-44942156
16 SIX3 NM_005413.4(SIX3):c.127G>T (p.Gly43Cys) SNV Uncertain significance 498633 rs1436891421 2:45169370-45169370 2:44942231-44942231
17 SIX3 NM_005413.4(SIX3):c.206G>A (p.Gly69Asp) SNV Uncertain significance 487087 rs121917881 2:45169449-45169449 2:44942310-44942310
18 SIX3 NM_005413.4(SIX3):c.338G>C (p.Trp113Ser) SNV Uncertain significance 664413 rs1572624000 2:45169581-45169581 2:44942442-44942442
19 SIX3 NM_005413.4(SIX3):c.96C>T (p.Ser32=) SNV Likely benign 697780 rs202214767 2:45169339-45169339 2:44942200-44942200
20 SIX3 NM_005413.4(SIX3):c.807-7C>T SNV Likely benign 703294 rs758201999 2:45171700-45171700 2:44944561-44944561
21 SIX3 NM_005413.4(SIX3):c.720G>T (p.Ala240=) SNV Benign 259762 rs191012035 2:45169963-45169963 2:44942824-44942824
22 SIX3 NM_005413.4(SIX3):c.909G>C (p.Pro303=) SNV Benign 723116 rs560888073 2:45171809-45171809 2:44944670-44944670
23 SIX3 NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) SNV Benign 30381 rs199823175 2:45169352-45169352 2:44942213-44942213
24 SIX3 NM_005413.4(SIX3):c.219C>T (p.Pro73=) SNV Benign 65493 rs186163123 2:45169462-45169462 2:44942323-44942323
25 SIX3 NM_005413.4(SIX3):c.576C>T (p.Arg192=) SNV Benign 65500 rs182881 2:45169819-45169819 2:44942680-44942680
26 SIX3 NM_005413.4(SIX3):c.348C>T (p.Pro116=) SNV Benign 586592 rs573768953 2:45169591-45169591 2:44942452-44942452
27 SIX3 NM_005413.4(SIX3):c.369G>A (p.Glu123=) SNV Benign 284060 rs200331042 2:45169612-45169612 2:44942473-44942473
28 SIX3 NM_005413.4(SIX3):c.525G>A (p.Gln175=) SNV Benign 193311 rs116680477 2:45169768-45169768 2:44942629-44942629
29 SIX3 NM_005413.4(SIX3):c.90G>T (p.Ala30=) SNV Benign 65505 rs78018362 2:45169333-45169333 2:44942194-44942194

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

Cellular components related to Holoprosencephaly 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.8 SIX4 SIX3 FOXH1

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.03 ZIC2 SIX4 SIX3 GLI2 FOXH1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.96 SIX4 SIX3 SHH GLI2 FOXH1
3 negative regulation of transcription, DNA-templated GO:0045892 9.88 ZIC2 SIX4 SIX3 PRICKLE1
4 positive regulation of transcription, DNA-templated GO:0045893 9.83 ZIC2 SIX4 SHH GLI2 FOXH1
5 anterior/posterior pattern specification GO:0009952 9.69 SHH GLI2 FOXH1
6 smoothened signaling pathway GO:0007224 9.65 SHH GLI2
7 heart looping GO:0001947 9.65 SHH FOXH1
8 odontogenesis of dentin-containing tooth GO:0042475 9.65 SHH GLI2
9 pattern specification process GO:0007389 9.64 SHH GLI2
10 embryonic digit morphogenesis GO:0042733 9.64 SHH GLI2
11 thymus development GO:0048538 9.63 SIX4 SHH
12 determination of left/right symmetry GO:0007368 9.63 SHH FOXH1 DISP1
13 multicellular organism development GO:0007275 9.63 ZIC2 SIX4 SIX3 SHH GLI2 DISP1
14 protein localization to nucleus GO:0034504 9.62 SIX4 SHH
15 pituitary gland development GO:0021983 9.62 SIX3 GLI2
16 hair follicle morphogenesis GO:0031069 9.61 SHH GLI2
17 embryonic pattern specification GO:0009880 9.61 SHH DISP1
18 branching morphogenesis of an epithelial tube GO:0048754 9.6 SHH GLI2
19 developmental growth GO:0048589 9.59 SHH GLI2
20 spinal cord motor neuron differentiation GO:0021522 9.58 SHH GLI2
21 hindbrain development GO:0030902 9.57 SHH GLI2
22 anatomical structure formation involved in morphogenesis GO:0048646 9.55 SHH GLI2
23 osteoblast development GO:0002076 9.54 SHH GLI2
24 dorsal/ventral neural tube patterning GO:0021904 9.52 SHH GLI2
25 anatomical structure development GO:0048856 9.5 SIX4 SHH GLI2
26 positive regulation of T cell differentiation in thymus GO:0033089 9.49 SHH GLI2
27 telencephalon regionalization GO:0021978 9.48 SIX3 SHH
28 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.4 SHH GLI2
29 spinal cord dorsal/ventral patterning GO:0021513 9.37 SHH GLI2
30 hindgut morphogenesis GO:0007442 9.26 SHH GLI2
31 ventral midline development GO:0007418 8.96 SHH GLI2
32 dorsal/ventral pattern formation GO:0009953 8.8 SHH GLI2 DISP1

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 GO:0003700 9.56 ZIC2 SIX4 GLI2 FOXH1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.55 ZIC2 SIX4 SIX3 GLI2 FOXH1
3 DNA binding GO:0003677 9.43 ZIC2 SIX4 SIX3 POLE2 GLI2 FOXH1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.92 SIX4 SIX3 GLI2 FOXH1

Sources for Holoprosencephaly 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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