HPE11
MCID: HLP016
MIFTS: 46

Holoprosencephaly 11 (HPE11)

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

Aliases & Classifications for Holoprosencephaly 11

MalaCards integrated aliases for Holoprosencephaly 11:

Name: Holoprosencephaly 11 57 12 72 29 13 6 15 70
Hpe11 57 12 72
Holoprosencephaly, Type 11 39
Holoprosencephaly-11 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation
four unrelated patients have been reported (as of september 2011)


HPO:

31
holoprosencephaly 11:
Inheritance autosomal dominant inheritance sporadic
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0110877
OMIM® 57 614226
OMIM Phenotypic Series 57 PS236100
MeSH 44 D016142
MedGen 41 C3280215
UMLS 70 C3280215

Summaries for Holoprosencephaly 11

UniProtKB/Swiss-Prot : 72 Holoprosencephaly 11: 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 11, also known as hpe11, is related to central nervous system lipoma and holoprosencephaly 8. An important gene associated with Holoprosencephaly 11 is CDON (Cell Adhesion Associated, Oncogene Regulated), and among its related pathways/superpathways are Signaling by Hedgehog and Mesodermal Commitment Pathway. Affiliated tissues include pituitary, and related phenotypes are agenesis of corpus callosum and global developmental delay

Disease Ontology : 12 A holoprosencephaly that has material basis in heterozygous mutation in the CDON gene on chromosome 11q24.

More information from OMIM: 614226 PS236100

Related Diseases for Holoprosencephaly 11

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 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 central nervous system lipoma 10.3 ZIC2 SIX3
2 holoprosencephaly 8 10.2 ZIC2 DISP1 CDON
3 chromosome 18p deletion syndrome 10.2 ZIC2 SIX3
4 orofaciodigital syndrome viii 10.2 ZIC2 SIX3 DISP1
5 tooth size 10.1 SHH FGF8
6 calcifying epithelial odontogenic tumor 10.0 PTCH1 GLI2
7 polydactyly, preaxial ii 9.9 SHH PTCH1
8 holoprosencephaly, recurrent infections, and monocytosis 9.9 SIX3 PTCH1 GLI2
9 cerebellum cancer 9.9 SHH PTCH1
10 brachydactyly, type a1 9.9 SHH PTCH1 CDON
11 cerebellar medulloblastoma 9.9 SHH PTCH1
12 anus, imperforate 9.8 SHH GLI2 FGF8
13 hypopituitarism 9.8 SIX3 SHH GLI2
14 colobomatous microphthalmia 9.8 SIX3 SHH PTCH1
15 corpus callosum lipoma 9.8 ZIC2 SIX3 SHH GLI2
16 cerebral hemisphere lipoma 9.8 ZIC2 SIX3 SHH GLI2
17 patau syndrome 9.8 ZIC2 SIX3 SHH FOXH1 DISP1
18 melanotic medulloblastoma 9.8 SHH PTCH1 GLI2
19 nodular medulloblastoma 9.8 SHH PTCH1 GLI2
20 adult medulloblastoma 9.8 SHH PTCH1 GLI2
21 townes-brocks syndrome 9.7 SIX2 SHH FGF8
22 tibia, hypoplasia or aplasia of, with polydactyly 9.7 SHH DHCR7
23 keratocystic odontogenic tumor 9.7 SHH PTCH1
24 greig cephalopolysyndactyly syndrome 9.7 SHH PTCH1 GLI2
25 skeletal muscle cancer 9.7 SHH PTCH1 GLI2
26 septooptic dysplasia 9.7 SIX3 SHH GLI2 FGF8
27 infratentorial cancer 9.7 SHH PTCH1 GLI2
28 culler-jones syndrome 9.7 ZIC2 SIX3 SHH GLI2 CDON
29 holoprosencephaly 3 9.7 ZIC2 SIX3 SHH GLI2 DISP1
30 ellis-van creveld syndrome 9.6 SHH PTCH1 GLI2
31 diaphragmatic hernia, congenital 9.6 SHH ELN DISP1
32 basal cell nevus syndrome 9.6 SHH PTCH1 GLI2 CDON
33 renal hypodysplasia/aplasia 1 9.6 SIX2 SHH FGF8
34 holoprosencephaly 2 9.5 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
35 holoprosencephaly 4 9.5 ZIC2 SIX3 SHH FOXH1 FGF8 DISP1
36 tetralogy of fallot 9.4 SHH FOXH1 FGF8 ELN
37 coloboma of macula 9.4 ZIC2 SIX3 SHH PTCH1 FGF8 CDON
38 chromosome 2q35 duplication syndrome 9.4 SHH PTCH1 GLI2 FGF8 DHCR7
39 cleft palate, isolated 9.4 SHH PTCH1 GLI2 FGF8
40 physical disorder 9.3 ZIC2 SIX3 SHH PTCH1 GLI2 FGF8
41 holoprosencephaly 1 9.3 ZIC2 TRAPPC10 SIX3 SHH GLI2 FGF8
42 pallister-hall syndrome 9.2 ZIC2 SIX3 SHH PTCH1 GLI2 FGF8
43 congenital nervous system abnormality 9.2 ZIC2 SIX3 SHH PTCH1 GLI2 FGF8
44 holoprosencephaly 9 9.1 ZIC2 SIX3 SHH PTCH1 GLI2 FOXH1
45 holoprosencephaly 5 9.1 ZIC2 SIX3 SHH PTCH1 GLI2 FOXH1
46 orofacial cleft 9.1 ZIC2 SIX3 SHH PTCH1 GLI2 FGF8
47 microcephaly 9.1 ZIC2 SHH PTCH1 GLI2 FGF8 DHCR7
48 alobar holoprosencephaly 8.8 ZIC2 TDGF1 SIX3 SHH PTCH1 GLI2
49 lobar holoprosencephaly 8.8 ZIC2 TDGF1 SIX3 SHH PTCH1 GLI2
50 midline interhemispheric variant of holoprosencephaly 8.8 ZIC2 TDGF1 SIX3 SHH PTCH1 GLI2

Graphical network of the top 20 diseases related to Holoprosencephaly 11:



Diseases related to Holoprosencephaly 11

Symptoms & Phenotypes for Holoprosencephaly 11

Human phenotypes related to Holoprosencephaly 11:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 global developmental delay 31 HP:0001263
3 microcephaly 31 HP:0000252
4 thick eyebrow 31 HP:0000574
5 cleft palate 31 HP:0000175
6 holoprosencephaly 31 HP:0001360
7 proptosis 31 HP:0000520
8 hypotelorism 31 HP:0000601
9 synophrys 31 HP:0000664
10 polysplenia 31 HP:0001748
11 cleft lip 31 HP:0410030

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
holoprosencephaly
agenesis of the corpus callosum
absent pituitary

Head And Neck Eyes:
proptosis
hypotelorism
synophrys
thick eyebrows

Head And Neck Face:
absent columella

Head And Neck Mouth:
cleft palate
cleft lip

Abdomen Spleen:
polysplenia

Clinical features from OMIM®:

614226 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Holoprosencephaly 11:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 CDON DHCR7 DISP1 FBXW11 FGF8 FOXH1
2 digestive/alimentary MP:0005381 10.31 CDON DHCR7 DISP1 FBXW11 FGF8 FOXH1
3 cellular MP:0005384 10.3 CDON DISP1 FBXW11 FGF8 GLI2 PTCH1
4 craniofacial MP:0005382 10.29 CDON DHCR7 DISP1 FGF8 FOXH1 GLI2
5 mortality/aging MP:0010768 10.28 CDON DHCR7 DISP1 FBXW11 FGF8 FOXH1
6 embryo MP:0005380 10.26 CDON DHCR7 DISP1 FGF8 FOXH1 GLI2
7 growth/size/body region MP:0005378 10.24 CDON DHCR7 DISP1 FGF8 FOXH1 GLI2
8 homeostasis/metabolism MP:0005376 10.22 DHCR7 DISP1 FBXW11 FGF8 FOXH1 GLI2
9 endocrine/exocrine gland MP:0005379 10.16 DISP1 FBXW11 FGF8 FOXH1 GLI2 PTCH1
10 nervous system MP:0003631 10.15 CDON DHCR7 DISP1 FGF8 FOXH1 GLI2
11 limbs/digits/tail MP:0005371 10.06 CDON DHCR7 DISP1 FGF8 GLI2 PTCH1
12 muscle MP:0005369 9.95 DHCR7 DISP1 FGF8 FOXH1 GLI2 PTCH1
13 normal MP:0002873 9.91 DISP1 FGF8 FOXH1 GLI2 PTCH1 SHH
14 respiratory system MP:0005388 9.9 CDON DHCR7 DISP1 FGF8 FOXH1 GLI2
15 no phenotypic analysis MP:0003012 9.8 FBXW11 FOXH1 GLI2 PTCH1 SHH SIX2
16 skeleton MP:0005390 9.65 CDON DISP1 FGF8 FOXH1 GLI2 PTCH1
17 vision/eye MP:0005391 9.36 CDON DISP1 FGF8 FOXH1 GLI2 PTCH1

Drugs & Therapeutics for Holoprosencephaly 11

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 11

Genetic Tests for Holoprosencephaly 11

Genetic tests related to Holoprosencephaly 11:

# Genetic test Affiliating Genes
1 Holoprosencephaly 11 29 CDON

Anatomical Context for Holoprosencephaly 11

MalaCards organs/tissues related to Holoprosencephaly 11:

40
Pituitary

Publications for Holoprosencephaly 11

Articles related to Holoprosencephaly 11:

# Title Authors PMID Year
1
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors. 6 57
21802063 2011
2
Purification of human alpha 1 antiprotease-pancreatic elastase complex. Interaction with homologous elastin. 61
6609797 1984

Variations for Holoprosencephaly 11

ClinVar genetic disease variations for Holoprosencephaly 11:

6 (show top 50) (show all 234)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDON NM_016952.4(CDON):c.2368A>G (p.Thr790Ala) SNV Pathogenic 30749 rs387906997 GRCh37: 11:125864942-125864942
GRCh38: 11:125995047-125995047
2 CDON NM_016952.4(CDON):c.2339T>A (p.Val780Glu) SNV Pathogenic 30748 rs387906996 GRCh37: 11:125867125-125867125
GRCh38: 11:125997230-125997230
3 CDON NM_016952.4(CDON):c.2818A>C (p.Ser940Arg) SNV Pathogenic 30750 rs369673018 GRCh37: 11:125853944-125853944
GRCh38: 11:125984049-125984049
4 CDON NM_016952.4(CDON):c.2065C>G (p.Pro689Ala) SNV Pathogenic 30747 rs387906995 GRCh37: 11:125871707-125871707
GRCh38: 11:126001812-126001812
5 CDON NM_001378964.1(CDON):c.1544_1545del (p.Leu515fs) Microsatellite Pathogenic 1028033 GRCh37: 11:125880243-125880244
GRCh38: 11:126010348-126010349
6 CDON NM_001378964.1(CDON):c.3276+1G>T SNV Conflicting interpretations of pathogenicity 878774 GRCh37: 11:125850943-125850943
GRCh38: 11:125981048-125981048
7 CDON NM_016952.4(CDON):c.2567A>G (p.Asn856Ser) SNV Conflicting interpretations of pathogenicity 707303 rs768131084 GRCh37: 11:125864262-125864262
GRCh38: 11:125994367-125994367
8 CDON NM_016952.4(CDON):c.1102A>G (p.Ser368Gly) SNV Uncertain significance 838249 GRCh37: 11:125885232-125885232
GRCh38: 11:126015337-126015337
9 CDON NM_016952.4(CDON):c.1387T>C (p.Ser463Pro) SNV Uncertain significance 842607 GRCh37: 11:125880401-125880401
GRCh38: 11:126010506-126010506
10 CDON NM_016952.4(CDON):c.2960dup (p.Cys987fs) Duplication Uncertain significance 632154 rs1565503495 GRCh37: 11:125853801-125853802
GRCh38: 11:125983906-125983907
11 CDON NM_016952.4(CDON):c.881A>G (p.Asn294Ser) SNV Uncertain significance 539749 rs749949944 GRCh37: 11:125887030-125887030
GRCh38: 11:126017135-126017135
12 CDON NM_001378964.1(CDON):c.*3294A>G SNV Uncertain significance 877614 GRCh37: 11:125827543-125827543
GRCh38: 11:125957648-125957648
13 CDON NM_001378964.1(CDON):c.*3269G>C SNV Uncertain significance 877615 GRCh37: 11:125827568-125827568
GRCh38: 11:125957673-125957673
14 CDON NM_001378964.1(CDON):c.*3235G>A SNV Uncertain significance 877616 GRCh37: 11:125827602-125827602
GRCh38: 11:125957707-125957707
15 CDON NM_001378964.1(CDON):c.*2375C>T SNV Uncertain significance 877663 GRCh37: 11:125828462-125828462
GRCh38: 11:125958567-125958567
16 CDON NM_001378964.1(CDON):c.*2349A>C SNV Uncertain significance 877664 GRCh37: 11:125828488-125828488
GRCh38: 11:125958593-125958593
17 CDON NM_001378964.1(CDON):c.*2339T>A SNV Uncertain significance 877667 GRCh37: 11:125828498-125828498
GRCh38: 11:125958603-125958603
18 CDON NM_001378964.1(CDON):c.*1062C>T SNV Uncertain significance 877701 GRCh37: 11:125829775-125829775
GRCh38: 11:125959880-125959880
19 CDON NM_001378964.1(CDON):c.3710G>T (p.Gly1237Val) SNV Uncertain significance 877740 GRCh37: 11:125830922-125830922
GRCh38: 11:125961027-125961027
20 CDON NM_001378964.1(CDON):c.2442A>C (p.Gln814His) SNV Uncertain significance 877780 GRCh37: 11:125864868-125864868
GRCh38: 11:125994973-125994973
21 CDON NM_001378964.1(CDON):c.2403T>C (p.Tyr801=) SNV Uncertain significance 877781 GRCh37: 11:125864907-125864907
GRCh38: 11:125995012-125995012
22 CDON NM_001378964.1(CDON):c.2071G>A (p.Val691Met) SNV Uncertain significance 877782 GRCh37: 11:125871701-125871701
GRCh38: 11:126001806-126001806
23 CDON NM_001378964.1(CDON):c.424A>T (p.Arg142Trp) SNV Uncertain significance 878003 GRCh37: 11:125889586-125889586
GRCh38: 11:126019691-126019691
24 CDON NM_001378964.1(CDON):c.*4063G>T SNV Uncertain significance 878586 GRCh37: 11:125826774-125826774
GRCh38: 11:125956879-125956879
25 CDON NM_001378964.1(CDON):c.*4007G>A SNV Uncertain significance 878587 GRCh37: 11:125826830-125826830
GRCh38: 11:125956935-125956935
26 CDON NM_016952.4(CDON):c.*1816C>T SNV Uncertain significance 303451 rs776338493 GRCh37: 11:125829021-125829021
GRCh38: 11:125959126-125959126
27 CDON NM_016952.4(CDON):c.94A>G (p.Thr32Ala) SNV Uncertain significance 303524 rs886047978 GRCh37: 11:125891398-125891398
GRCh38: 11:126021503-126021503
28 CDON NM_016952.4(CDON):c.*1211A>G SNV Uncertain significance 303469 rs886047973 GRCh37: 11:125829626-125829626
GRCh38: 11:125959731-125959731
29 CDON NM_016952.4(CDON):c.2239G>A (p.Gly747Arg) SNV Uncertain significance 303501 rs745363657 GRCh37: 11:125867225-125867225
GRCh38: 11:125997330-125997330
30 CDON NM_016952.4(CDON):c.*2195G>A SNV Uncertain significance 303446 rs886047961 GRCh37: 11:125828642-125828642
GRCh38: 11:125958747-125958747
31 CDON NM_016952.4(CDON):c.*249G>A SNV Uncertain significance 303486 rs886047975 GRCh37: 11:125830588-125830588
GRCh38: 11:125960693-125960693
32 CDON NM_016952.4(CDON):c.*2640A>G SNV Uncertain significance 303405 rs886047951 GRCh37: 11:125828197-125828197
GRCh38: 11:125958302-125958302
33 CDON NM_016952.4(CDON):c.*1803C>T SNV Uncertain significance 303452 rs886047963 GRCh37: 11:125829034-125829034
GRCh38: 11:125959139-125959139
34 CDON NM_016952.4(CDON):c.*3916G>A SNV Uncertain significance 303377 rs886047942 GRCh37: 11:125826921-125826921
GRCh38: 11:125957026-125957026
35 CDON NM_016952.4(CDON):c.*1736C>T SNV Uncertain significance 303455 rs886047966 GRCh37: 11:125829101-125829101
GRCh38: 11:125959206-125959206
36 CDON NM_016952.4(CDON):c.*1572A>G SNV Uncertain significance 303458 rs367911589 GRCh37: 11:125829265-125829265
GRCh38: 11:125959370-125959370
37 CDON NM_016952.4(CDON):c.*3104T>C SNV Uncertain significance 303394 rs886047948 GRCh37: 11:125827733-125827733
GRCh38: 11:125957838-125957838
38 CDON NM_016952.4(CDON):c.350-9A>G SNV Uncertain significance 303522 rs367564964 GRCh37: 11:125889669-125889669
GRCh38: 11:126019774-126019774
39 CDON NM_016952.4(CDON):c.1000G>C (p.Asp334His) SNV Uncertain significance 303521 rs571859031 GRCh37: 11:125885334-125885334
GRCh38: 11:126015439-126015439
40 CDON NM_016952.4(CDON):c.1826A>G (p.Asn609Ser) SNV Uncertain significance 303511 rs756054017 GRCh37: 11:125875679-125875679
GRCh38: 11:126005784-126005784
41 CDON NM_016952.4(CDON):c.39T>C (p.Tyr13=) SNV Uncertain significance 303525 rs886047979 GRCh37: 11:125893333-125893333
GRCh38: 11:126023438-126023438
42 CDON NM_016952.4(CDON):c.*2373C>T SNV Uncertain significance 303439 rs371492744 GRCh37: 11:125828464-125828464
GRCh38: 11:125958569-125958569
43 CDON NM_016952.4(CDON):c.1654A>G (p.Ser552Gly) SNV Uncertain significance 303515 rs886047977 GRCh37: 11:125875851-125875851
GRCh38: 11:126005956-126005956
44 CDON NM_016952.4(CDON):c.1741A>G (p.Ile581Val) SNV Uncertain significance 303513 rs141782811 GRCh37: 11:125875764-125875764
GRCh38: 11:126005869-126005869
45 CDON NM_016952.4(CDON):c.*3610C>T SNV Uncertain significance 303383 rs886047943 GRCh37: 11:125827227-125827227
GRCh38: 11:125957332-125957332
46 CDON NM_016952.4(CDON):c.1847G>A (p.Arg616Gln) SNV Uncertain significance 303510 rs144938780 GRCh37: 11:125875658-125875658
GRCh38: 11:126005763-126005763
47 CDON NM_016952.4(CDON):c.*2705C>T SNV Uncertain significance 303403 rs549903425 GRCh37: 11:125828132-125828132
GRCh38: 11:125958237-125958237
48 CDON NM_016952.4(CDON):c.*215C>T SNV Uncertain significance 303487 rs879027869 GRCh37: 11:125830622-125830622
GRCh38: 11:125960727-125960727
49 CDON NM_016952.4(CDON):c.3061A>G (p.Thr1021Ala) SNV Uncertain significance 303495 rs762511903 GRCh37: 11:125851159-125851159
GRCh38: 11:125981264-125981264
50 CDON NM_016952.4(CDON):c.*1327T>G SNV Uncertain significance 303464 rs886047971 GRCh37: 11:125829510-125829510
GRCh38: 11:125959615-125959615

UniProtKB/Swiss-Prot genetic disease variations for Holoprosencephaly 11:

72
# Symbol AA change Variation ID SNP ID
1 CDON p.Pro689Ala VAR_066498 rs387906995
2 CDON p.Val691Met VAR_066499 rs139323558
3 CDON p.Val780Glu VAR_066500 rs387906996
4 CDON p.Thr790Ala VAR_066501 rs387906997
5 CDON p.Ser940Arg VAR_066502 rs369673018

Expression for Holoprosencephaly 11

Search GEO for disease gene expression data for Holoprosencephaly 11.

Pathways for Holoprosencephaly 11

GO Terms for Holoprosencephaly 11

Cellular components related to Holoprosencephaly 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 8.92 SHH SERPINB1 ELN CDON

Biological processes related to Holoprosencephaly 11 according to GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 SIX3 SIX2 SHH GLI2 FOXH1 CDON
2 multicellular organism development GO:0007275 10.05 ZIC2 SIX3 SIX2 SHH GLI2 FGF8
3 positive regulation of transcription, DNA-templated GO:0045893 10.01 ZIC2 SHH PTCH1 GLI2 FOXH1 FBXW11
4 heart development GO:0007507 9.93 TDGF1 SHH GLI2 FGF8
5 animal organ morphogenesis GO:0009887 9.89 PTCH1 FGF8 ELN
6 lung development GO:0030324 9.83 SHH GLI2 FGF8
7 heart looping GO:0001947 9.78 SHH FOXH1 FGF8
8 anatomical structure development GO:0048856 9.77 TDGF1 SHH GLI2
9 kidney development GO:0001822 9.76 SIX2 SHH GLI2 FGF8
10 pattern specification process GO:0007389 9.75 SHH PTCH1 GLI2
11 embryonic hindlimb morphogenesis GO:0035116 9.72 SHH FGF8
12 hair follicle morphogenesis GO:0031069 9.72 SHH GLI2
13 telencephalon development GO:0021537 9.72 SIX3 FGF8
14 embryonic pattern specification GO:0009880 9.72 SHH DISP1
15 outflow tract morphogenesis GO:0003151 9.72 FOXH1 FGF8 ELN
16 branching morphogenesis of an epithelial tube GO:0048754 9.71 SHH GLI2
17 developmental growth GO:0048589 9.71 SHH GLI2
18 negative regulation of smoothened signaling pathway GO:0045879 9.71 PTCH1 GLI2
19 limb morphogenesis GO:0035108 9.71 PTCH1 FGF8
20 dopaminergic neuron differentiation GO:0071542 9.7 SHH FGF8
21 thyroid gland development GO:0030878 9.7 SHH FGF8
22 embryo development ending in birth or egg hatching GO:0009792 9.7 TDGF1 FGF8
23 lung morphogenesis GO:0060425 9.7 SHH FGF8
24 embryonic morphogenesis GO:0048598 9.69 SHH CDON
25 striated muscle cell differentiation GO:0051146 9.69 SHH CDON
26 hindbrain development GO:0030902 9.69 SHH GLI2
27 pharyngeal system development GO:0060037 9.68 PTCH1 FGF8
28 anatomical structure formation involved in morphogenesis GO:0048646 9.68 SHH GLI2
29 male genitalia development GO:0030539 9.68 SHH FGF8
30 osteoblast development GO:0002076 9.68 SHH GLI2
31 somite development GO:0061053 9.67 SHH PTCH1
32 embryonic digestive tract morphogenesis GO:0048557 9.67 SIX2 SHH
33 aorta morphogenesis GO:0035909 9.67 FOXH1 FGF8
34 branching involved in ureteric bud morphogenesis GO:0001658 9.67 SHH PTCH1 FGF8
35 prostate gland development GO:0030850 9.66 SHH PTCH1
36 branching involved in salivary gland morphogenesis GO:0060445 9.65 SHH FGF8
37 smooth muscle tissue development GO:0048745 9.65 SHH PTCH1
38 cell proliferation in forebrain GO:0021846 9.64 SIX3 FGF8
39 metanephric collecting duct development GO:0072205 9.64 SHH PTCH1
40 positive regulation of T cell differentiation in thymus GO:0033089 9.63 SHH GLI2
41 positive regulation of skeletal muscle tissue development GO:0048643 9.62 SHH CDON
42 telencephalon regionalization GO:0021978 9.62 SIX3 SHH
43 smoothened signaling pathway GO:0007224 9.62 SHH PTCH1 GLI2 CDON
44 forebrain dorsal/ventral pattern formation GO:0021798 9.61 SIX3 FGF8
45 mammary gland development GO:0030879 9.61 TDGF1 PTCH1 GLI2
46 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.59 PTCH1 GLI2
47 mammary gland duct morphogenesis GO:0060603 9.58 PTCH1 GLI2
48 metanephros development GO:0001656 9.58 SIX2 SHH FGF8
49 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.57 SHH GLI2
50 spinal cord dorsal/ventral patterning GO:0021513 9.56 SHH GLI2

Molecular functions related to Holoprosencephaly 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.26 SIX3 SIX2 GLI2 FOXH1
2 patched binding GO:0005113 8.62 SHH PTCH1

Sources for Holoprosencephaly 11

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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