HPE7
MCID: HLP027
MIFTS: 49

Holoprosencephaly 7 (HPE7)

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

Aliases & Classifications for Holoprosencephaly 7

MalaCards integrated aliases for Holoprosencephaly 7:

Name: Holoprosencephaly 7 57 12 73 29 6 15 71
Hpe7 57 12 73
Holoprosencephaly-7 73 13
Holoprosencephaly, Type 7 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

31
holoprosencephaly 7:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



Summaries for Holoprosencephaly 7

OMIM® : 57 Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). (610828) (Updated 05-Mar-2021)

MalaCards based summary : Holoprosencephaly 7, also known as hpe7, is related to calcifying epithelial odontogenic tumor and central nervous system lipoma, and has symptoms including seizures An important gene associated with Holoprosencephaly 7 is PTCH1 (Patched 1), and among its related pathways/superpathways are Signaling by Hedgehog and Mesodermal Commitment Pathway. Related phenotypes are omphalocele and depressed nasal tip

Disease Ontology : 12 A holoprosencephaly that has material basis in heterozygous mutation in the PTCH1 gene on chromosome 9q22.

UniProtKB/Swiss-Prot : 73 Holoprosencephaly 7: 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.

Related Diseases for Holoprosencephaly 7

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 calcifying epithelial odontogenic tumor 10.3 PTCH1 GLI2
2 central nervous system lipoma 10.3 ZIC2 SIX3
3 chromosome 18p deletion syndrome 10.3 ZIC2 SIX3
4 polydactyly, preaxial ii 10.3 SHH PTCH1
5 holoprosencephaly, recurrent infections, and monocytosis 10.2 SIX3 PTCH1 GLI2
6 orofaciodigital syndrome viii 10.2 ZIC2 SIX3 DISP1
7 holoprosencephaly 8 10.2 ZIC2 DISP1 CDON
8 tooth size 10.2 SHH FGF8
9 melanotic medulloblastoma 10.2 SHH PTCH1 GLI2
10 nodular medulloblastoma 10.2 SHH PTCH1 GLI2
11 adult medulloblastoma 10.2 SHH PTCH1 GLI2
12 cerebellum cancer 10.2 SHH PTCH1
13 greig cephalopolysyndactyly syndrome 10.2 SHH PTCH1 GLI2
14 cerebellar medulloblastoma 10.2 SHH PTCH1
15 colobomatous microphthalmia 10.2 SIX3 SHH PTCH1
16 skeletal muscle cancer 10.2 SHH PTCH1 GLI2
17 brachydactyly, type a1, b 10.1 PTCH1 IHH
18 hypopituitarism 10.1 SIX3 SHH GLI2
19 anus, imperforate 10.1 SHH GLI2 FGF8
20 corpus callosum lipoma 10.1 ZIC2 SIX3 SHH GLI2
21 cerebral hemisphere lipoma 10.1 ZIC2 SIX3 SHH GLI2
22 double outlet right ventricle 10.1 NODAL FOXH1 FGF8
23 keratocystic odontogenic tumor 10.1 SHH PTCH1
24 septooptic dysplasia 10.0 SIX3 SHH GLI2 FGF8
25 holoprosencephaly 3 10.0 ZIC2 SIX3 SHH GLI2 DISP1
26 nivelon-nivelon-mabille syndrome 9.9 PTCH1 IHH HHAT
27 townes-brocks syndrome 9.9 SIX2 SHH FGF8
28 pancreas, annular 9.9 SHH IHH
29 bone development disease 9.9 SHH IHH FGF8
30 ellis-van creveld syndrome 9.9 SHH PTCH1 IHH GLI2
31 holoprosencephaly 2 9.9 ZIC2 SIX3 SHH GLI2 FOXH1 DISP1
32 synostosis 9.8 SHH IHH FGF8
33 patau syndrome 9.8 ZIC2 SIX3 SHH NODAL FOXH1 DISP1
34 physical disorder 9.8 ZIC2 SIX3 SHH PTCH1 GLI2 FGF8
35 tetralogy of fallot 9.8 SHH NODAL FOXH1 FGF8
36 coloboma of macula 9.8 ZIC2 SIX3 SHH PTCH1 FGF8 CDON
37 kallmann syndrome 9.8 SIX3 SHH IHH FGF8
38 cleft palate, isolated 9.7 SHH PTCH1 IHH GLI2 FGF8
39 acrocapitofemoral dysplasia 9.7 SHH IHH DHH
40 holoprosencephaly 4 9.7 ZIC2 SIX3 SHH FOXH1 FGF8 DISP1
41 culler-jones syndrome 9.7 ZIC2 SIX3 SHH IHH GLI2 CDON
42 congenital nervous system abnormality 9.7 ZIC2 SIX3 SHH PTCH1 GLI2 FGF8
43 holoprosencephaly 9 9.6 ZIC2 SIX3 SHH PTCH1 GLI2 FOXH1
44 renal hypodysplasia/aplasia 1 9.6 SIX2 SHH FGF8
45 chromosome 2q35 duplication syndrome 9.6 SHH PTCH1 IHH GLI2 FGF8 DHCR7
46 basal cell carcinoma 9.5 SHH PTCH1 IHH GLI2 GAS1
47 brachydactyly, type a1 9.5 SHH PTCH1 IHH DHH CDON
48 infratentorial cancer 9.5 SHH PTCH1 IHH GLI2 DHH
49 microcephaly 9.5 ZIC2 SHH PTCH1 GLI2 FGF8 DHCR7
50 holoprosencephaly 5 9.4 ZIC2 TRAPPC10 SIX3 SHH PTCH1 GLI2

Graphical network of the top 20 diseases related to Holoprosencephaly 7:



Diseases related to Holoprosencephaly 7

Symptoms & Phenotypes for Holoprosencephaly 7

Human phenotypes related to Holoprosencephaly 7:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 omphalocele 31 occasional (7.5%) HP:0001539
2 depressed nasal tip 31 occasional (7.5%) HP:0000437
3 macrocephaly 31 HP:0000256
4 agenesis of corpus callosum 31 HP:0001274
5 frontal bossing 31 HP:0002007
6 hydrocephalus 31 HP:0000238
7 global developmental delay 31 HP:0001263
8 macrotia 31 HP:0000400
9 short nose 31 HP:0003196
10 upslanted palpebral fissure 31 HP:0000582
11 iris coloboma 31 HP:0000612
12 flat occiput 31 HP:0005469
13 hypotelorism 31 HP:0000601
14 midface retrusion 31 HP:0011800
15 panhypopituitarism 31 HP:0000871
16 single median maxillary incisor 31 HP:0006315
17 median cleft lip and palate 31 HP:0008501
18 bilateral cleft lip and palate 31 HP:0002744
19 hypoplasia of the premaxilla 31 HP:0010650
20 midline defect of the nose 31 HP:0004122
21 absent nasal septal cartilage 31 HP:0005273
22 flat nasal alae 31 HP:0010649
23 fusion of the left and right thalami 31 HP:0010664
24 parietal bossing 31 HP:0000242
25 bilateral microphthalmos 31 HP:0007633
26 broad face 31 HP:0000283
27 semilobar holoprosencephaly 31 HP:0002507
28 seizure 31 HP:0001250
29 alobar holoprosencephaly 31 HP:0006988

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly

Head And Neck Mouth:
cleft palate
cleft lip

Endocrine Features:
panhypopituitarism

Head And Neck Nose:
flattened nasal tip
hypoplastic nose (in 1 patient)
flattened alae

Abdomen External Features:
omphalocele (in 1 patient)

Neurologic Central Nervous System:
seizures
agenesis of corpus callosum
hydrocephalus
developmental delay
holoprosencephaly, semilobar or alobar

Head And Neck Eyes:
hypotelorism
upslanting palpebral fissures

Head And Neck Face:
midface hypoplasia
hypoplastic premaxilla

Head And Neck Teeth:
single central maxillary incisor

Clinical features from OMIM®:

610828 (Updated 05-Mar-2021)

UMLS symptoms related to Holoprosencephaly 7:


seizures

MGI Mouse Phenotypes related to Holoprosencephaly 7:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.49 CDON DHCR7 DISP1 FBXW11 FGF8 FOXH1
2 digestive/alimentary MP:0005381 10.46 CDON DHCR7 DHH DISP1 FBXW11 FGF8
3 craniofacial MP:0005382 10.44 CDON DHCR7 DISP1 FGF8 FOXH1 GAS1
4 embryo MP:0005380 10.42 CDON DHCR7 DISP1 FGF8 FOXH1 GAS1
5 growth/size/body region MP:0005378 10.4 CDON DHCR7 DISP1 FGF8 FOXH1 GAS1
6 cellular MP:0005384 10.39 CDON DISP1 FBXW11 FGF8 GAS1 GLI2
7 mortality/aging MP:0010768 10.39 CDON DHCR7 DISP1 FBXW11 FGF8 FOXH1
8 homeostasis/metabolism MP:0005376 10.34 DHCR7 DHH DISP1 FBXW11 FGF8 FOXH1
9 nervous system MP:0003631 10.33 CDON DHCR7 DHH DISP1 FGF8 FOXH1
10 endocrine/exocrine gland MP:0005379 10.31 DHH DISP1 FBXW11 FGF8 FOXH1 GLI2
11 limbs/digits/tail MP:0005371 10.22 CDON DHCR7 DISP1 FGF8 GAS1 GLI2
12 respiratory system MP:0005388 10.1 CDON DHCR7 DISP1 FGF8 FOXH1 GAS1
13 muscle MP:0005369 10.09 DHCR7 DISP1 FGF8 FOXH1 GLI2 IHH
14 normal MP:0002873 10.02 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1
15 skeleton MP:0005390 10 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
16 hearing/vestibular/ear MP:0005377 9.99 FGF8 FOXH1 GAS1 GLI2 PTCH1 SHH
17 no phenotypic analysis MP:0003012 9.97 FBXW11 FOXH1 GLI2 IHH NODAL PTCH1
18 vision/eye MP:0005391 9.5 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
19 taste/olfaction MP:0005394 9.26 NODAL PTCH1 SHH SIX3

Drugs & Therapeutics for Holoprosencephaly 7

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 7

Genetic Tests for Holoprosencephaly 7

Genetic tests related to Holoprosencephaly 7:

# Genetic test Affiliating Genes
1 Holoprosencephaly 7 29 PTCH1

Anatomical Context for Holoprosencephaly 7

Publications for Holoprosencephaly 7

Articles related to Holoprosencephaly 7:

# Title Authors PMID Year
1
Cerebro-oculo-nasal syndrome: 13 new Brazilian cases. 6 57
17985375 2007
2
PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 57 6
17001668 2006
3
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 57 6
17096318 2006
4
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 6 57
11941477 2002
5
PTCH1 duplication in a family with microcephaly and mild developmental delay. 57 61
18830227 2009
6
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. 57
2688166 1989
7
Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings. 61
28496998 2017
8
[Holoprosencephaly with neurogenic hypernatremia]. 61
9974095 1999
9
The epidemiology of anotia and microtia. 61
8933331 1996

Variations for Holoprosencephaly 7

ClinVar genetic disease variations for Holoprosencephaly 7:

6 (show top 50) (show all 208)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTCH1 NM_000264.5(PTCH1):c.2723T>G (p.Val908Gly) SNV Pathogenic 8225 rs199476093 9:98222046-98222046 9:95459764-95459764
2 PTCH1 NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) SNV Pathogenic 8223 rs199476092 9:98229479-98229479 9:95467197-95467197
3 PTCH1 NM_000264.5(PTCH1):c.2834delinsAGATGTTGTGGACCC (p.Arg945fs) Indel Likely pathogenic 430657 rs1554691658 9:98221935-98221935 9:95459653-95459653
4 PTCH1 NM_000264.5(PTCH1):c.842T>C (p.Met281Thr) SNV Uncertain significance 560251 rs1564055682 9:98242775-98242775 9:95480493-95480493
5 PTCH1 NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) SNV Uncertain significance 188148 rs786204103 9:98209487-98209487 9:95447205-95447205
6 PTCH1 NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln) SNV Uncertain significance 577136 rs978722722 9:98209489-98209489 9:95447207-95447207
7 PTCH1 NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser) SNV Uncertain significance 220391 rs371943557 9:98209495-98209495 9:95447213-95447213
8 PTCH1 NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) SNV Uncertain significance 132753 rs574880967 9:98209619-98209619 9:95447337-95447337
9 PTCH1 NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) SNV Uncertain significance 524547 rs779365332 9:98209630-98209630 9:95447348-95447348
10 PTCH1 NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His) SNV Uncertain significance 486183 rs762040036 9:98211580-98211580 9:95449298-95449298
11 PTCH1 NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) SNV Uncertain significance 188150 rs754623561 9:98229518-98229518 9:95467236-95467236
12 PTCH1 NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) SNV Uncertain significance 237462 rs753002023 9:98231294-98231294 9:95469012-95469012
13 PTCH1 NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys) SNV Uncertain significance 409137 rs772903899 9:98241359-98241359 9:95479077-95479077
14 PTCH1 NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe) SNV Uncertain significance 578248 rs1380199153 9:98242369-98242369 9:95480087-95480087
15 PTCH1 NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn) SNV Uncertain significance 524544 rs767601899 9:98242716-98242716 9:95480434-95480434
16 PTCH1 NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys) SNV Uncertain significance 486174 rs139535966 9:98248139-98248139 9:95485857-95485857
17 PTCH1 NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) SNV Uncertain significance 188208 rs779791579 9:98270607-98270607 9:95508325-95508325
18 PTCH1 NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg) SNV Uncertain significance 135105 rs587778631 9:98209376-98209376 9:95447094-95447094
19 PTCH1 NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr) SNV Uncertain significance 577111 rs111481152 9:98209400-98209400 9:95447118-95447118
20 PTCH1 NM_000264.5(PTCH1):c.-122G>A SNV Uncertain significance 912334 9:98270765-98270765 9:95508483-95508483
21 PTCH1 NM_000264.5(PTCH1):c.*2180C>T SNV Uncertain significance 912655 9:98206495-98206495 9:95444213-95444213
22 PTCH1 NM_000264.5(PTCH1):c.*2096G>A SNV Uncertain significance 912656 9:98206579-98206579 9:95444297-95444297
23 PTCH1 NM_000264.5(PTCH1):c.*1556T>G SNV Uncertain significance 912697 9:98207119-98207119 9:95444837-95444837
24 PTCH1 NM_000264.5(PTCH1):c.-78G>A SNV Uncertain significance 367678 rs572958276 9:98270721-98270721 9:95508439-95508439
25 PTCH1 NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) SNV Uncertain significance 188208 rs779791579 9:98270607-98270607 9:95508325-95508325
26 PTCH1 NM_000264.5(PTCH1):c.*3213T>C SNV Uncertain significance 367619 rs992312438 9:98205462-98205462 9:95443180-95443180
27 PTCH1 NM_000264.5(PTCH1):c.2887+10G>A SNV Uncertain significance 135886 rs202081420 9:98221872-98221872 9:95459590-95459590
28 PTCH1 NM_000264.5(PTCH1):c.*1648A>G SNV Uncertain significance 367641 rs1057515713 9:98207027-98207027 9:95444745-95444745
29 PTCH1 NM_000264.5(PTCH1):c.*168C>A SNV Uncertain significance 367662 rs769353632 9:98208507-98208507 9:95446225-95446225
30 PTCH1 NM_000264.5(PTCH1):c.1653G>A (p.Thr551=) SNV Uncertain significance 367670 rs766039170 9:98238391-98238391 9:95476109-95476109
31 PTCH1 NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=) SNV Uncertain significance 135894 rs149691476 9:98211531-98211531 9:95449249-95449249
32 PTCH1 NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu) SNV Uncertain significance 135908 rs370755364 9:98242733-98242733 9:95480451-95480451
33 PTCH1 NM_000264.5(PTCH1):c.801G>A (p.Glu267=) SNV Uncertain significance 135907 rs374155092 9:98242816-98242816 9:95480534-95480534
34 PTCH1 NM_000264.5(PTCH1):c.777C>T (p.Phe259=) SNV Uncertain significance 415493 rs750313305 9:98242840-98242840 9:95480558-95480558
35 PTCH1 NM_000264.5(PTCH1):c.*62C>T SNV Uncertain significance 913150 9:98208613-98208613 9:95446331-95446331
36 PTCH1 NM_000264.5(PTCH1):c.*762G>C SNV Uncertain significance 913101 9:98207913-98207913 9:95445631-95445631
37 PTCH1 NM_000264.5(PTCH1):c.3449+11G>A SNV Uncertain significance 390530 rs568528640 9:98215749-98215749 9:95453467-95453467
38 PTCH1 NM_000264.5(PTCH1):c.2750G>T (p.Ser917Ile) SNV Uncertain significance 821764 rs1588544954 9:98222019-98222019 9:95459737-95459737
39 PTCH1 NM_000264.5(PTCH1):c.2703+12G>A SNV Uncertain significance 913294 9:98224126-98224126 9:95461844-95461844
40 PTCH1 NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg) SNV Uncertain significance 135877 rs587780697 9:98231106-98231106 9:95468824-95468824
41 PTCH1 NM_000264.5(PTCH1):c.*3138T>C SNV Uncertain significance 912617 9:98205537-98205537 9:95443255-95443255
42 PTCH1 NM_000264.5(PTCH1):c.*3111G>A SNV Uncertain significance 913718 9:98205564-98205564 9:95443282-95443282
43 PTCH1 NM_000264.5(PTCH1):c.*2795G>T SNV Uncertain significance 913719 9:98205880-98205880 9:95443598-95443598
44 PTCH1 NM_000264.5(PTCH1):c.*1885G>A SNV Uncertain significance 914157 9:98206790-98206790 9:95444508-95444508
45 PTCH1 NM_000264.5(PTCH1):c.*1757C>T SNV Uncertain significance 914158 9:98206918-98206918 9:95444636-95444636
46 PTCH1 NM_000264.5(PTCH1):c.*1353T>C SNV Uncertain significance 913800 9:98207322-98207322 9:95445040-95445040
47 PTCH1 NM_000264.5(PTCH1):c.*1256C>T SNV Uncertain significance 914201 9:98207419-98207419 9:95445137-95445137
48 PTCH1 NM_000264.5(PTCH1):c.*1167A>G SNV Uncertain significance 914202 9:98207508-98207508 9:95445226-95445226
49 PTCH1 NM_000264.5(PTCH1):c.*1153C>G SNV Uncertain significance 914203 9:98207522-98207522 9:95445240-95445240
50 PTCH1 NM_000264.5(PTCH1):c.*750G>A SNV Uncertain significance 913102 9:98207925-98207925 9:95445643-95445643

UniProtKB/Swiss-Prot genetic disease variations for Holoprosencephaly 7:

73
# Symbol AA change Variation ID SNP ID
1 PTCH1 p.Ala393Thr VAR_032952 rs199476091
2 PTCH1 p.Ala443Gly VAR_032953 rs878853845
3 PTCH1 p.Thr728Met VAR_032954 rs115556836
4 PTCH1 p.Val751Gly VAR_032955
5 PTCH1 p.Ser827Gly VAR_032956 rs199476092
6 PTCH1 p.Val908Gly VAR_032957 rs199476093
7 PTCH1 p.Thr1052Met VAR_032958 rs138911275

Expression for Holoprosencephaly 7

Search GEO for disease gene expression data for Holoprosencephaly 7.

Pathways for Holoprosencephaly 7

Pathways related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 SHH PTCH1 IHH HHAT GLI2 GAS1
2
Show member pathways
12.34 ZIC2 NODAL GLI2 FOXH1 FGF8
3
Show member pathways
12.25 SHH PTCH1 IHH DHH
4 12.09 TDGF1 SHH PTCH1 GLI2
5
Show member pathways
11.39 TDGF1 NODAL FOXH1
6 11.35 SHH NODAL FGF8
7 11.32 SHH FOXH1 FGF8
8 11.31 SHH PTCH1 GLI2 FBXW11
9 11.21 SHH PTCH1 IHH GLI2
10 11.09 SHH GLI2 FGF8
11 11.07 SHH PTCH1 IHH HHAT GLI2 GAS1
12
Show member pathways
11.03 SHH PTCH1 IHH HHAT GLI2 GAS1
13
Show member pathways
10.83 SHH PTCH1 IHH GLI2 DHH
14 10.53 SHH NODAL FGF8
15 10.44 SHH PTCH1

GO Terms for Holoprosencephaly 7

Biological processes related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.21 SIX3 SIX2 SHH NODAL IHH GLI2
2 positive regulation of transcription, DNA-templated GO:0045893 10.16 ZIC2 SHH PTCH1 GLI2 FOXH1 FBXW11
3 positive regulation of cell proliferation GO:0008284 10.14 TDGF1 SHH NODAL IHH GLI2 FGF8
4 negative regulation of apoptotic process GO:0043066 10.12 TDGF1 SHH IHH GLI2 FGF8
5 brain development GO:0007420 10.02 ZIC2 SIX3 PTCH1 NODAL
6 in utero embryonic development GO:0001701 10 PTCH1 NODAL IHH GLI2
7 heart development GO:0007507 10 TDGF1 SHH NODAL GLI2 FGF8
8 kidney development GO:0001822 9.96 SIX2 SHH GLI2 FGF8
9 response to estradiol GO:0032355 9.91 PTCH1 IHH DHH
10 osteoblast differentiation GO:0001649 9.9 IHH GLI2 DHH
11 multicellular organism development GO:0007275 9.9 ZIC2 SIX3 SIX2 SHH NODAL IHH
12 lung development GO:0030324 9.88 SHH NODAL GLI2 FGF8
13 anatomical structure development GO:0048856 9.87 TDGF1 SHH GLI2
14 embryonic digit morphogenesis GO:0042733 9.85 SHH IHH GLI2
15 branching involved in ureteric bud morphogenesis GO:0001658 9.84 SHH PTCH1 FGF8
16 cell fate commitment GO:0045165 9.84 SHH NODAL GAS1 FGF8
17 negative regulation of cell differentiation GO:0045596 9.83 SIX2 SHH NODAL IHH
18 mammary gland development GO:0030879 9.81 TDGF1 PTCH1 GLI2
19 metanephros development GO:0001656 9.81 SIX2 SHH FGF8
20 branching involved in blood vessel morphogenesis GO:0001569 9.8 SHH IHH FGF8
21 developmental growth GO:0048589 9.8 SHH GLI2 GAS1
22 pattern specification process GO:0007389 9.8 SHH PTCH1 IHH GLI2
23 anterior/posterior pattern specification GO:0009952 9.8 TDGF1 SHH NODAL GLI2 FOXH1 CDON
24 vasculature development GO:0001944 9.79 SHH NODAL IHH
25 protein autoprocessing GO:0016540 9.77 SHH IHH DHH
26 heart looping GO:0001947 9.77 SHH NODAL IHH FOXH1 FGF8
27 spinal cord motor neuron differentiation GO:0021522 9.75 SHH PTCH1 GLI2
28 lung morphogenesis GO:0060425 9.74 SHH FGF8
29 embryonic morphogenesis GO:0048598 9.74 SHH CDON
30 anterior/posterior axis specification GO:0009948 9.74 SIX2 NODAL
31 striated muscle cell differentiation GO:0051146 9.74 SHH CDON
32 hindbrain development GO:0030902 9.74 SHH GLI2
33 pharyngeal system development GO:0060037 9.74 PTCH1 FGF8
34 anatomical structure formation involved in morphogenesis GO:0048646 9.74 SHH NODAL GLI2
35 male genitalia development GO:0030539 9.73 SHH FGF8
36 osteoblast development GO:0002076 9.73 SHH GLI2
37 embryonic heart tube development GO:0035050 9.73 NODAL FGF8
38 aorta morphogenesis GO:0035909 9.73 FOXH1 FGF8
39 somite development GO:0061053 9.73 SHH PTCH1 IHH
40 cell fate specification GO:0001708 9.73 SHH IHH DHH CDON
41 negative regulation of androgen receptor signaling pathway GO:0060766 9.72 NODAL FOXH1
42 digestive tract morphogenesis GO:0048546 9.72 SHH NODAL
43 prostate gland development GO:0030850 9.72 SHH PTCH1
44 embryonic digestive tract morphogenesis GO:0048557 9.72 SIX2 SHH IHH
45 branching involved in salivary gland morphogenesis GO:0060445 9.71 SHH FGF8
46 cell proliferation in forebrain GO:0021846 9.71 SIX3 FGF8
47 metanephric collecting duct development GO:0072205 9.71 SHH PTCH1
48 positive regulation of alpha-beta T cell differentiation GO:0046638 9.71 SHH IHH
49 nodal signaling pathway GO:0038092 9.71 TDGF1 NODAL
50 embryonic pattern specification GO:0009880 9.71 SHH NODAL IHH DISP1

Molecular functions related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 morphogen activity GO:0016015 8.96 SHH NODAL
2 patched binding GO:0005113 8.92 SHH PTCH1 IHH DHH

Sources for Holoprosencephaly 7

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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