HPE9
MCID: HLP025
MIFTS: 50

Holoprosencephaly 9 (HPE9)

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

Aliases & Classifications for Holoprosencephaly 9

MalaCards integrated aliases for Holoprosencephaly 9:

Name: Holoprosencephaly 9 57 12 72 29 6 15
Pituitary Anomalies with Holoprosencephaly-Like Features 57 12 72 70
Hpe9 57 12 72
Holoprosencephaly with Microphthalmia and First Branchial Arch Anomalies 57 12
Holoprosencephaly-9 72 13
Holoprosencephaly, Type 9 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
variable expressivity
incomplete penetrance
variable phenotype

Inheritance:
autosomal dominant


HPO:

31
holoprosencephaly 9:
Inheritance autosomal dominant inheritance sporadic
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



Summaries for Holoprosencephaly 9

OMIM® : 57 Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). (610829) (Updated 20-May-2021)

MalaCards based summary : Holoprosencephaly 9, also known as pituitary anomalies with holoprosencephaly-like features, is related to culler-jones syndrome and central nervous system lipoma, and has symptoms including seizures An important gene associated with Holoprosencephaly 9 is GLI2 (GLI Family Zinc Finger 2), and among its related pathways/superpathways are Signaling by Hedgehog and Mesodermal Commitment Pathway. Affiliated tissues include pituitary, eye and cerebellum, and related phenotypes are short stature and hydrocephalus

Disease Ontology : 12 A holoprosencephaly that has material basis in heterozygous mutation in the GLI2 gene on chromosome 2q14.

UniProtKB/Swiss-Prot : 72 Holoprosencephaly 9: 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. Holoprosencephaly type 9 is characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia.

Related Diseases for Holoprosencephaly 9

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 culler-jones syndrome 30.4 ZIC2 SIX3 SHH GLI2 CDON
2 central nervous system lipoma 10.1 ZIC2 SIX3
3 chromosome 18p deletion syndrome 10.1 ZIC2 SIX3
4 calcifying epithelial odontogenic tumor 10.0 PTCH1 GLI2
5 childhood medulloblastoma 9.9 PTCH1 GLI2
6 orofaciodigital syndrome viii 9.9 ZIC2 SIX3 DISP1
7 holoprosencephaly 8 9.9 ZIC2 DISP1 CDON
8 anus, imperforate 9.9 SHH GLI2
9 skin benign neoplasm 9.8 PTCH1 GLI2
10 holoprosencephaly, recurrent infections, and monocytosis 9.8 SIX3 PTCH1 GLI2
11 esophageal atresia 9.8 SHH GLI2
12 schizencephaly 9.8 SIX3 SHH
13 polydactyly, preaxial ii 9.8 SHH PTCH1
14 cerebellum cancer 9.7 SHH PTCH1
15 fetal alcohol spectrum disorder 9.7 SHH CDON
16 cerebellar medulloblastoma 9.7 SHH PTCH1
17 keratocystic odontogenic tumor 9.7 SHH PTCH1
18 focal dermal hypoplasia 9.7 SHH PTCH1
19 septooptic dysplasia 9.7 SIX3 SHH GLI2
20 tumoral calcinosis, hyperphosphatemic, familial, 1 9.7 SHH PTCH1
21 hypopituitarism 9.7 SIX3 SHH GLI2
22 melanotic medulloblastoma 9.6 SHH PTCH1 GLI2
23 nodular medulloblastoma 9.6 SHH PTCH1 GLI2
24 adult medulloblastoma 9.6 SHH PTCH1 GLI2
25 greig cephalopolysyndactyly syndrome 9.6 SHH PTCH1 GLI2
26 skeletal muscle cancer 9.6 SHH PTCH1 GLI2
27 infratentorial cancer 9.6 SHH PTCH1 GLI2
28 ellis-van creveld syndrome 9.6 SHH PTCH1 GLI2
29 polydactyly 9.6 SHH PTCH1 GLI2
30 chromosome 2q35 duplication syndrome 9.6 SHH PTCH1 GLI2
31 colobomatous microphthalmia 9.5 SIX3 SHH PTCH1
32 brachydactyly, type a1 9.5 SHH PTCH1 CDON
33 anencephaly 9.5 SIX3 SHH
34 corpus callosum lipoma 9.5 ZIC2 SIX3 SHH GLI2
35 cerebral hemisphere lipoma 9.5 ZIC2 SIX3 SHH GLI2
36 cleft palate, isolated 9.4 SHH PTCH1 GLI2
37 microphthalmia 9.3 SIX3 SHH PTCH1 GLI2
38 basal cell carcinoma 9.3 SHH PTCH1 GLI2
39 basal cell nevus syndrome 9.3 SHH PTCH1 GLI2 CDON
40 holoprosencephaly 3 9.3 ZIC2 SIX3 SHH GLI2 DISP1
41 holoprosencephaly 1 9.2 ZIC2 SIX3 SHH GLI2 CDON
42 patau syndrome 9.2 ZIC2 SIX3 SHH FOXH1 DISP1
43 physical disorder 9.2 ZIC2 SIX3 SHH PTCH1 GLI2
44 orofacial cleft 9.1 ZIC2 SIX3 SHH PTCH1 GLI2
45 coloboma of macula 9.1 ZIC2 SIX3 SHH PTCH1 CDON
46 microcephaly 9.0 ZIC2 SHH PTCH1 GLI2 CDON
47 holoprosencephaly 2 9.0 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
48 holoprosencephaly 4 8.9 ZIC2 SIX3 SHH FOXH1 DISP1 CDON
49 pallister-hall syndrome 8.9 ZIC2 SIX3 SHH PTCH1 GLI2 CDON
50 congenital nervous system abnormality 8.9 ZIC2 SIX3 SHH PTCH1 GLI2 CDON

Graphical network of the top 20 diseases related to Holoprosencephaly 9:



Diseases related to Holoprosencephaly 9

Symptoms & Phenotypes for Holoprosencephaly 9

Human phenotypes related to Holoprosencephaly 9:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 short stature 31 occasional (7.5%) HP:0004322
2 hydrocephalus 31 HP:0000238
3 global developmental delay 31 HP:0001263
4 depressed nasal bridge 31 HP:0005280
5 macrotia 31 HP:0000400
6 dental malocclusion 31 HP:0000689
7 microcephaly 31 HP:0000252
8 cryptorchidism 31 HP:0000028
9 hypoplasia of the maxilla 31 HP:0000327
10 micropenis 31 HP:0000054
11 anophthalmia 31 HP:0000528
12 microphthalmia 31 HP:0000568
13 holoprosencephaly 31 HP:0001360
14 malar flattening 31 HP:0000272
15 short philtrum 31 HP:0000322
16 hypotelorism 31 HP:0000601
17 midface retrusion 31 HP:0011800
18 partial agenesis of the corpus callosum 31 HP:0001338
19 postaxial hand polydactyly 31 HP:0001162
20 panhypopituitarism 31 HP:0000871
21 single median maxillary incisor 31 HP:0006315
22 abnormal cortical gyration 31 HP:0002536
23 short hard palate 31 HP:0010290
24 bilateral cleft lip and palate 31 HP:0002744
25 optic nerve hypoplasia 31 HP:0000609
26 hypoplasia of the premaxilla 31 HP:0010650
27 underdeveloped tragus 31 HP:0011272
28 anterior pituitary hypoplasia 31 HP:0010627
29 anterior pituitary agenesis 31 HP:0010626
30 single naris 31 HP:0009932
31 agenesis of incisor 31 HP:0006485
32 prominent antihelix 31 HP:0000395
33 seizure 31 HP:0001250
34 decreased response to growth hormone stimuation test 31 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
holoprosencephaly
anterior pituitary hypoplasia
delayed psychomotor development

Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary External Genitalia Male:
micropenis

Endocrine Features:
hypopituitarism

Skeletal Feet:
postaxial polydactyly

Head And Neck Face:
midface hypoplasia
temporomandibular joint abnormalities
first branchial arch anomalies

Growth Height:
short stature (in some patients)

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Eyes:
anophthalmia
microphthalmia
hypotelorism
optic nerve hypoplasia

Skeletal Hands:
postaxial polydactyly

Head And Neck Ears:
prominent antihelix
first branchial arch anomalies
abnormal ears
abnormal helix
hypoplastic tragus

Head And Neck Nose:
flat nasal bridge
single nares

Head And Neck Teeth:
solitary median maxillary central incisor

Clinical features from OMIM®:

610829 (Updated 20-May-2021)

UMLS symptoms related to Holoprosencephaly 9:


seizures

MGI Mouse Phenotypes related to Holoprosencephaly 9:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.15 CDON DISP1 FOXH1 GLI2 PTCH1 SHH
2 digestive/alimentary MP:0005381 10.14 CDON DISP1 FOXH1 GLI2 PTCH1 SHH
3 embryo MP:0005380 10.13 CDON DISP1 FOXH1 GLI2 PTCH1 SHH
4 growth/size/body region MP:0005378 10.1 CDON DISP1 FOXH1 GLI2 PTCH1 SHH
5 cardiovascular system MP:0005385 10.03 CDON DISP1 FOXH1 PTCH1 SHH ZIC2
6 mortality/aging MP:0010768 10.03 CDON DISP1 FOXH1 GLI2 PTCH1 SHH
7 endocrine/exocrine gland MP:0005379 9.99 DISP1 FOXH1 GLI2 PTCH1 SHH ZIC2
8 nervous system MP:0003631 9.97 CDON DISP1 FOXH1 GLI2 PTCH1 SHH
9 limbs/digits/tail MP:0005371 9.93 CDON DISP1 GLI2 PTCH1 SHH ZIC2
10 respiratory system MP:0005388 9.86 CDON DISP1 FOXH1 GLI2 PTCH1 SHH
11 muscle MP:0005369 9.8 DISP1 FOXH1 GLI2 PTCH1 SHH
12 normal MP:0002873 9.8 DISP1 FOXH1 GLI2 PTCH1 SHH ZIC2
13 hearing/vestibular/ear MP:0005377 9.78 FOXH1 GLI2 PTCH1 SHH
14 skeleton MP:0005390 9.76 CDON DISP1 FOXH1 GLI2 PTCH1 SHH
15 vision/eye MP:0005391 9.23 CDON DISP1 FOXH1 GLI2 PTCH1 SHH
16 taste/olfaction MP:0005394 9.13 PTCH1 SHH SIX3

Drugs & Therapeutics for Holoprosencephaly 9

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 9

Genetic Tests for Holoprosencephaly 9

Genetic tests related to Holoprosencephaly 9:

# Genetic test Affiliating Genes
1 Holoprosencephaly 9 29 GLI2

Anatomical Context for Holoprosencephaly 9

MalaCards organs/tissues related to Holoprosencephaly 9:

40
Pituitary, Eye, Cerebellum, Skeletal Muscle, Skin

Publications for Holoprosencephaly 9

Articles related to Holoprosencephaly 9:

# Title Authors PMID Year
1
Clinical findings in patients with GLI2 mutations--phenotypic variability. 57 6
21204792 2012
2
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 6 57
17096318 2006
3
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 57 6
14581620 2003
4
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications. 6
29876959 2018
5
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 6
20685856 2010
6
Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder. 57
18049080 2008
7
Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects. 57
15971260 2005
8
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. 6
15994174 2005
9
Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. 57
11851965 2002

Variations for Holoprosencephaly 9

ClinVar genetic disease variations for Holoprosencephaly 9:

6 (show top 50) (show all 228)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLI2 GLI2, 1-BP DEL, NT2274 Deletion Pathogenic 13834 GRCh37:
GRCh38:
2 GLI2 NM_001374353.1(GLI2):c.1272G>A (p.Trp424Ter) SNV Pathogenic 13835 rs121917707 GRCh37: 2:121732640-121732640
GRCh38: 2:120975064-120975064
3 GLI2 NM_001374353.1(GLI2):c.1384C>G (p.Arg462Gly) SNV Pathogenic 13836 rs121917708 GRCh37: 2:121736076-121736076
GRCh38: 2:120978500-120978500
4 GLI2 NM_001374353.1(GLI2):c.864_865del (p.His289fs) Deletion Pathogenic 37082 rs398122882 GRCh37: 2:121727984-121727985
GRCh38: 2:120970408-120970409
5 GLI2 NM_001374353.1(GLI2):c.3210dup (p.Thr1071fs) Duplication Pathogenic 374313 rs1057518689 GRCh37: 2:121746748-121746749
GRCh38: 2:120989172-120989173
6 GLI2 NM_001374353.1(GLI2):c.891del (p.Gln297fs) Deletion Pathogenic 374323 rs1057518696 GRCh37: 2:121728014-121728014
GRCh38: 2:120970438-120970438
7 GLI2 NM_001374353.1(GLI2):c.192dup (p.Asp65Ter) Duplication Pathogenic 573009 rs1388607733 GRCh37: 2:121684978-121684979
GRCh38: 2:120927402-120927403
8 GLI2 NM_001374353.1(GLI2):c.322del (p.Ala108fs) Deletion Pathogenic 520904 rs1553471273 GRCh37: 2:121708885-121708885
GRCh38: 2:120951309-120951309
9 GLI2 NM_001374353.1(GLI2):c.3567del (p.Gln1189fs) Deletion Pathogenic 863253 GRCh37: 2:121747108-121747108
GRCh38: 2:120989532-120989532
10 GLI2 NM_001374353.1(GLI2):c.789_826del (p.Arg264fs) Deletion Pathogenic 962182 GRCh37: 2:121726433-121726470
GRCh38: 2:120968857-120968894
11 GLI2 NM_001374353.1(GLI2):c.1905+1G>A SNV Likely pathogenic 576501 rs1558937172 GRCh37: 2:121742320-121742320
GRCh38: 2:120984744-120984744
12 GLI2 NM_001374353.1(GLI2):c.4603A>T (p.Thr1535Ser) SNV Likely pathogenic 374267 rs1057518657 GRCh37: 2:121748144-121748144
GRCh38: 2:120990568-120990568
13 GLI2 NM_001374353.1(GLI2):c.413C>T (p.Thr138Met) SNV Conflicting interpretations of pathogenicity 894191 GRCh37: 2:121708977-121708977
GRCh38: 2:120951401-120951401
14 GLI2 NM_001374353.1(GLI2):c.315G>A (p.Pro105=) SNV Uncertain significance 598536 rs139473153 GRCh37: 2:121708879-121708879
GRCh38: 2:120951303-120951303
15 GLI2 NM_001374353.1(GLI2):c.4392C>G (p.Asp1464Glu) SNV Uncertain significance 893754 GRCh37: 2:121747933-121747933
GRCh38: 2:120990357-120990357
16 GLI2 NM_001374353.1(GLI2):c.*1947G>A SNV Uncertain significance 893780 GRCh37: 2:121750198-121750198
GRCh38: 2:120992622-120992622
17 GLI2 NM_001374353.1(GLI2):c.149-14C>G SNV Uncertain significance 893359 GRCh37: 2:121684923-121684923
GRCh38: 2:120927347-120927347
18 GLI2 NM_001374353.1(GLI2):c.152C>G (p.Pro51Arg) SNV Uncertain significance 893360 GRCh37: 2:121684940-121684940
GRCh38: 2:120927364-120927364
19 GLI2 NM_001374353.1(GLI2):c.2873G>T (p.Arg958Leu) SNV Uncertain significance 893414 GRCh37: 2:121746414-121746414
GRCh38: 2:120988838-120988838
20 GLI2 NM_001374353.1(GLI2):c.4226C>T (p.Ser1409Leu) SNV Uncertain significance 893444 GRCh37: 2:121747767-121747767
GRCh38: 2:120990191-120990191
21 GLI2 NM_001374353.1(GLI2):c.*1660T>A SNV Uncertain significance 893479 GRCh37: 2:121749911-121749911
GRCh38: 2:120992335-120992335
22 GLI2 NM_001374353.1(GLI2):c.*1735T>C SNV Uncertain significance 893480 GRCh37: 2:121749986-121749986
GRCh38: 2:120992410-120992410
23 GLI2 NM_001374353.1(GLI2):c.*1753C>T SNV Uncertain significance 893481 GRCh37: 2:121750004-121750004
GRCh38: 2:120992428-120992428
24 GLI2 NM_001374353.1(GLI2):c.1195G>A (p.Asp399Asn) SNV Uncertain significance 892575 GRCh37: 2:121732563-121732563
GRCh38: 2:120974987-120974987
25 GLI2 NM_001374353.1(GLI2):c.1309C>G (p.Leu437Val) SNV Uncertain significance 892576 GRCh37: 2:121732677-121732677
GRCh38: 2:120975101-120975101
26 GLI2 NM_001374353.1(GLI2):c.2486C>T (p.Pro829Leu) SNV Uncertain significance 772295 rs761090665 GRCh37: 2:121746027-121746027
GRCh38: 2:120988451-120988451
27 GLI2 NM_001374353.1(GLI2):c.2666C>T (p.Pro889Leu) SNV Uncertain significance 892597 GRCh37: 2:121746207-121746207
GRCh38: 2:120988631-120988631
28 GLI2 NM_001374353.1(GLI2):c.2683A>G (p.Ser895Gly) SNV Uncertain significance 892598 GRCh37: 2:121746224-121746224
GRCh38: 2:120988648-120988648
29 GLI2 NM_001374353.1(GLI2):c.2689C>T (p.Arg897Trp) SNV Uncertain significance 813658 GRCh37: 2:121746230-121746230
GRCh38: 2:120988654-120988654
30 GLI2 NM_001374353.1(GLI2):c.*411C>T SNV Uncertain significance 892676 GRCh37: 2:121748662-121748662
GRCh38: 2:120991086-120991086
31 GLI2 NM_001374353.1(GLI2):c.*712G>C SNV Uncertain significance 892677 GRCh37: 2:121748963-121748963
GRCh38: 2:120991387-120991387
32 GLI2 NM_001374353.1(GLI2):c.*795T>C SNV Uncertain significance 892678 GRCh37: 2:121749046-121749046
GRCh38: 2:120991470-120991470
33 GLI2 NM_001374353.1(GLI2):c.88A>C (p.Lys30Gln) SNV Uncertain significance 419104 rs201053024 GRCh37: 2:121554984-121554984
GRCh38: 2:120797408-120797408
34 GLI2 NM_001374353.1(GLI2):c.4325G>A (p.Gly1442Asp) SNV Uncertain significance 973891 GRCh37: 2:121747866-121747866
GRCh38: 2:120990290-120990290
35 GLI2 NM_001374353.1(GLI2):c.1483_1494del (p.Lys495_Ser498del) Deletion Uncertain significance 1004973 GRCh37: 2:121740307-121740318
GRCh38: 2:120982731-120982742
36 GLI2 NM_001374353.1(GLI2):c.4413G>T (p.Leu1471Phe) SNV Uncertain significance 1016409 GRCh37: 2:121747954-121747954
GRCh38: 2:120990378-120990378
37 GLI2 NM_001374353.1(GLI2):c.770T>C (p.Val257Ala) SNV Uncertain significance 1022559 GRCh37: 2:121726416-121726416
GRCh38: 2:120968840-120968840
38 GLI2 NM_001374353.1(GLI2):c.3371A>T (p.Asn1124Ile) SNV Uncertain significance 894254 GRCh37: 2:121746912-121746912
GRCh38: 2:120989336-120989336
39 GLI2 NM_001374353.1(GLI2):c.661C>T (p.Pro221Ser) SNV Uncertain significance 452760 rs771675078 GRCh37: 2:121726307-121726307
GRCh38: 2:120968731-120968731
40 GLI2 NM_001374353.1(GLI2):c.671C>T (p.Thr224Met) SNV Uncertain significance 894600 GRCh37: 2:121726317-121726317
GRCh38: 2:120968741-120968741
41 GLI2 NM_001374353.1(GLI2):c.677G>A (p.Arg226His) SNV Uncertain significance 665586 rs766283583 GRCh37: 2:121726323-121726323
GRCh38: 2:120968747-120968747
42 GLI2 NM_001374353.1(GLI2):c.686G>A (p.Arg229His) SNV Uncertain significance 894601 GRCh37: 2:121726332-121726332
GRCh38: 2:120968756-120968756
43 GLI2 NM_001374353.1(GLI2):c.2131C>T (p.Arg711Trp) SNV Uncertain significance 894623 GRCh37: 2:121744079-121744079
GRCh38: 2:120986503-120986503
44 GLI2 NM_001374353.1(GLI2):c.2261T>G (p.Phe754Cys) SNV Uncertain significance 894624 GRCh37: 2:121745802-121745802
GRCh38: 2:120988226-120988226
45 GLI2 NM_001374353.1(GLI2):c.1924G>A (p.Gly642Arg) SNV Uncertain significance 894223 GRCh37: 2:121743872-121743872
GRCh38: 2:120986296-120986296
46 GLI2 NM_001374353.1(GLI2):c.*285G>A SNV Uncertain significance 894670 GRCh37: 2:121748536-121748536
GRCh38: 2:120990960-120990960
47 GLI2 NM_001374353.1(GLI2):c.146G>A (p.Gly49Glu) SNV Uncertain significance 930784 GRCh37: 2:121555042-121555042
GRCh38: 2:120797466-120797466
48 GLI2 NM_001374353.1(GLI2):c.4291T>C (p.Tyr1431His) SNV Uncertain significance 931811 GRCh37: 2:121747832-121747832
GRCh38: 2:120990256-120990256
49 GLI2 NM_001374353.1(GLI2):c.1121G>A (p.Arg374His) SNV Uncertain significance 198529 rs370220133 GRCh37: 2:121729578-121729578
GRCh38: 2:120972002-120972002
50 GLI2 NM_001374353.1(GLI2):c.4468G>A (p.Ala1490Thr) SNV Uncertain significance 947362 GRCh37: 2:121748009-121748009
GRCh38: 2:120990433-120990433

Expression for Holoprosencephaly 9

Search GEO for disease gene expression data for Holoprosencephaly 9.

Pathways for Holoprosencephaly 9

GO Terms for Holoprosencephaly 9

Biological processes related to Holoprosencephaly 9 according to GeneCards Suite gene sharing:

(show all 47)
# 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 10 SIX3 SHH GLI2 FOXH1 CDON
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.99 SHH PTCH1 GLI2 FOXH1
4 brain development GO:0007420 9.85 ZIC2 SIX3 PTCH1
5 positive regulation of transcription, DNA-templated GO:0045893 9.85 ZIC2 SHH PTCH1 GLI2 FOXH1
6 regulation of cell proliferation GO:0042127 9.82 SIX3 SHH PTCH1
7 heart looping GO:0001947 9.7 SHH FOXH1
8 anatomical structure development GO:0048856 9.7 SHH GLI2
9 odontogenesis of dentin-containing tooth GO:0042475 9.7 SHH GLI2
10 embryonic digit morphogenesis GO:0042733 9.69 SHH GLI2
11 embryonic limb morphogenesis GO:0030326 9.69 SHH PTCH1
12 lens development in camera-type eye GO:0002088 9.69 SIX3 CDON
13 determination of left/right symmetry GO:0007368 9.69 SHH FOXH1 DISP1
14 embryonic organ development GO:0048568 9.68 SHH PTCH1
15 branching involved in ureteric bud morphogenesis GO:0001658 9.68 SHH PTCH1
16 cell fate specification GO:0001708 9.67 SHH CDON
17 mammary gland development GO:0030879 9.67 PTCH1 GLI2
18 pituitary gland development GO:0021983 9.67 SIX3 GLI2
19 hair follicle morphogenesis GO:0031069 9.66 SHH GLI2
20 embryonic pattern specification GO:0009880 9.66 SHH DISP1
21 branching morphogenesis of an epithelial tube GO:0048754 9.65 SHH GLI2
22 developmental growth GO:0048589 9.65 SHH GLI2
23 negative regulation of smoothened signaling pathway GO:0045879 9.65 PTCH1 GLI2
24 embryonic morphogenesis GO:0048598 9.64 SHH CDON
25 striated muscle cell differentiation GO:0051146 9.63 SHH CDON
26 hindbrain development GO:0030902 9.63 SHH GLI2
27 anatomical structure formation involved in morphogenesis GO:0048646 9.62 SHH GLI2
28 osteoblast development GO:0002076 9.62 SHH GLI2
29 somite development GO:0061053 9.61 SHH PTCH1
30 prostate gland development GO:0030850 9.59 SHH PTCH1
31 smooth muscle tissue development GO:0048745 9.58 SHH PTCH1
32 metanephric collecting duct development GO:0072205 9.58 SHH PTCH1
33 pattern specification process GO:0007389 9.58 SHH PTCH1 GLI2
34 positive regulation of T cell differentiation in thymus GO:0033089 9.57 SHH GLI2
35 positive regulation of skeletal muscle tissue development GO:0048643 9.56 SHH CDON
36 anterior/posterior pattern specification GO:0009952 9.56 SHH GLI2 FOXH1 CDON
37 telencephalon regionalization GO:0021978 9.55 SIX3 SHH
38 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.54 PTCH1 GLI2
39 mammary gland duct morphogenesis GO:0060603 9.52 PTCH1 GLI2
40 spinal cord motor neuron differentiation GO:0021522 9.5 SHH PTCH1 GLI2
41 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.49 SHH GLI2
42 spinal cord dorsal/ventral patterning GO:0021513 9.48 SHH GLI2
43 hindgut morphogenesis GO:0007442 9.43 SHH GLI2
44 ventral midline development GO:0007418 9.37 SHH GLI2
45 dorsal/ventral neural tube patterning GO:0021904 9.33 SHH PTCH1 GLI2
46 smoothened signaling pathway GO:0007224 9.26 SHH PTCH1 GLI2 CDON
47 dorsal/ventral pattern formation GO:0009953 8.92 SHH PTCH1 GLI2 DISP1

Molecular functions related to Holoprosencephaly 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 8.62 SHH PTCH1

Sources for Holoprosencephaly 9

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