MCID: SML028
MIFTS: 47

Semilobar Holoprosencephaly

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

Aliases & Classifications for Semilobar Holoprosencephaly

MalaCards integrated aliases for Semilobar Holoprosencephaly:

Name: Semilobar Holoprosencephaly 58 54 6 70

Characteristics:

Orphanet epidemiological data:

58
semilobar holoprosencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Semilobar Holoprosencephaly

MalaCards based summary : Semilobar Holoprosencephaly is related to septooptic dysplasia and cleft palate, isolated. An important gene associated with Semilobar Holoprosencephaly is FGF8 (Fibroblast Growth Factor 8), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. Affiliated tissues include brain, heart and olfactory bulb, and related phenotypes are failure to thrive and short stature

Related Diseases for Semilobar Holoprosencephaly

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

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 septooptic dysplasia 29.7 STAG2 SIX3 SHH GLI2 FGFR1 FGF8
2 cleft palate, isolated 29.4 SHH PTCH1 GLI2 FGFR1 FGF8
3 patau syndrome 29.4 ZIC2 SIX3 SHH NODAL FOXH1 DISP1
4 microcephaly 28.4 ZIC2 STAG2 SMC1A SHH PTCH1 GLI2
5 midline interhemispheric variant of holoprosencephaly 26.9 ZIC2 TGIF1 TDGF1 SIX3 SHH PTCH1
6 holoprosencephaly 26.7 ZIC2 TGIF1 TDGF1 STAG2 SMC1A SIX3
7 lobar holoprosencephaly 26.6 ZIC2 TGIF1 TDGF1 SIX3 SHH PTCH1
8 holoprosencephaly, semilobar, with craniosynostosis 11.5
9 holoprosencephaly 13, x-linked 11.2
10 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 11.2
11 tooth size 10.3 SHH FGF8
12 central nervous system lipoma 10.3 ZIC2 SIX3
13 cleft lip 10.3
14 hartsfield syndrome 10.2 FGFR1 FGF8
15 chromosome 18p deletion syndrome 10.2 ZIC2 TGIF1 SIX3
16 seckel syndrome 10.2
17 autosomal recessive disease 10.2
18 scoliosis 10.2
19 myelomeningocele 10.2
20 diabetes insipidus 10.2
21 chromosomal triplication 10.2
22 apert syndrome 10.2 SHH FGFR1 FGF8
23 crouzon syndrome 10.2 SHH FGFR1 FGF8
24 bone development disease 10.1 SHH FGFR1 FGF8
25 orofaciodigital syndrome viii 10.1 ZIC2 SIX3 DISP1
26 holoprosencephaly 8 10.1 ZIC2 DISP1 CDON
27 synostosis 10.1 SHH FGFR1 FGF8
28 anus, imperforate 10.1 SHH GLI2 FGF8
29 polydactyly, preaxial ii 10.1 SHH PTCH1
30 cleft soft palate 10.0
31 coarctation of aorta 10.0
32 gallbladder, agenesis of 10.0
33 hair whorl 10.0
34 hypertelorism 10.0
35 thanatophoric dysplasia, type i 10.0
36 thanatophoric dysplasia, type ii 10.0
37 down syndrome 10.0
38 type 1 diabetes mellitus 10.0
39 hydrocephalus, congenital, 1 10.0
40 hydrops fetalis, nonimmune 10.0
41 branchiootic syndrome 1 10.0
42 polydactyly 10.0
43 chorea, childhood-onset, with psychomotor retardation 10.0
44 lymphatic malformation 7 10.0
45 holoprosencephaly 12 with or without pancreatic agenesis 10.0
46 deficiency anemia 10.0
47 lissencephaly 10.0
48 pancreatic agenesis 10.0
49 omphalocele 10.0
50 esophageal atresia 10.0

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



Diseases related to Semilobar Holoprosencephaly

Symptoms & Phenotypes for Semilobar Holoprosencephaly

Human phenotypes related to Semilobar Holoprosencephaly:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 hypotelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000601
4 poor suck 58 31 hallmark (90%) Very frequent (99-80%) HP:0002033
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
7 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
8 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
9 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
10 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
11 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
12 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
13 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
14 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
15 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
16 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
17 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
18 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
19 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
20 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
21 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
22 median cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0000161
23 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
24 aspiration pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0011951
25 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
26 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
27 central apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002871
28 abnormality of the autonomic nervous system 58 31 frequent (33%) Frequent (79-30%) HP:0002270
29 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
30 cerebral visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100704
31 abnormality of brainstem morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002363
32 temperature instability 58 31 frequent (33%) Frequent (79-30%) HP:0005968
33 chronic lung disease 58 31 frequent (33%) Frequent (79-30%) HP:0006528
34 abnormal hypothalamus physiology 58 31 frequent (33%) Frequent (79-30%) HP:0012285
35 oromotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0007301
36 sleep-wake cycle disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0006979
37 neural tube defect 58 31 frequent (33%) Frequent (79-30%) HP:0045005
38 aplasia of the falx cerebri 58 31 frequent (33%) Frequent (79-30%) HP:0010654
39 abnormal morphology of the olfactory bulb 58 31 frequent (33%) Frequent (79-30%) HP:0040327
40 seizure 31 frequent (33%) HP:0001250
41 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
42 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
43 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
44 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
45 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
46 diabetes insipidus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000873
47 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
48 panhypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000871
49 single median maxillary incisor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006315
50 cyclopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009914

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.1 FGFR1 GLI2
2 Decreased viability GR00221-A-2 10.1 FGFR1 GLI2
3 Decreased viability GR00221-A-3 10.1 SHH
4 Decreased viability GR00240-S-1 10.1 NODAL
5 Decreased viability GR00249-S 10.1 CNOT1 DISP1 NODAL PTCH1 SHH
6 Decreased viability GR00381-A-1 10.1 CDON DISP1 NODAL SMC1A
7 Decreased viability GR00381-A-2 10.1 NODAL
8 Decreased viability GR00381-A-3 10.1 NODAL
9 Decreased viability GR00386-A-1 10.1 FGFR1 FOXH1 GAS1 GLI2 PTCH1 SMC1A
10 Decreased viability GR00402-S-2 10.1 CDON CNOT1 GAS1 NODAL SMC1A
11 Increased the percentage of infected cells GR00402-S-1 8.32 FGF8

MGI Mouse Phenotypes related to Semilobar Holoprosencephaly:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.44 CDON CNOT1 DISP1 DLL1 FGF8 FGFR1
2 cellular MP:0005384 10.43 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
3 embryo MP:0005380 10.43 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
4 mortality/aging MP:0010768 10.41 CDON CNOT1 DISP1 DLL1 FGF8 FGFR1
5 growth/size/body region MP:0005378 10.37 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
6 craniofacial MP:0005382 10.36 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
7 behavior/neurological MP:0005386 10.35 CDON DLL1 FGF8 FGFR1 GAS1 GLI2
8 digestive/alimentary MP:0005381 10.35 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
9 nervous system MP:0003631 10.24 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
10 limbs/digits/tail MP:0005371 10.2 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
11 endocrine/exocrine gland MP:0005379 10.16 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
12 hearing/vestibular/ear MP:0005377 10.13 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2
13 muscle MP:0005369 10.1 CNOT1 DISP1 DLL1 FGF8 FGFR1 FOXH1
14 normal MP:0002873 10.1 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
15 respiratory system MP:0005388 10.03 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
16 skeleton MP:0005390 10 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
17 vision/eye MP:0005391 9.47 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
18 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1

Drugs & Therapeutics for Semilobar Holoprosencephaly

Search Clinical Trials , NIH Clinical Center for Semilobar Holoprosencephaly

Genetic Tests for Semilobar Holoprosencephaly

Anatomical Context for Semilobar Holoprosencephaly

MalaCards organs/tissues related to Semilobar Holoprosencephaly:

40
Brain, Heart, Olfactory Bulb, Hypothalamus, Eye, Lung, Pancreas

Publications for Semilobar Holoprosencephaly

Articles related to Semilobar Holoprosencephaly:

(show top 50) (show all 98)
# Title Authors PMID Year
1
Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene. 54 61
17556830 2007
2
Semilobar Holoprosencephaly: Capacious Anomaly in the Cephalad. 61
32802616 2020
3
Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. 61
30894326 2020
4
Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome. 61
31353810 2019
5
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly. 61
31006510 2019
6
SEC31A mutation affects ER homeostasis, causing a neurological syndrome. 61
30464055 2019
7
Antenatal sonographic diagnosis of semilobar holoprosencephaly with associated cleft lip and palate. 61
31131114 2019
8
Digynic triploidy in a fetus presenting with semilobar holoprosencephaly. 61
30545546 2018
9
Semilobar holoprosencephaly with cebocephaly associated with maternal early onset preeclampsia: a case report. 61
29980223 2018
10
Semilobarholoprosencephaly - A Dreading Congenital Anomaly. 61
28764265 2017
11
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. 61
28525974 2017
12
Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects. 61
28883880 2017
13
Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report. 61
27998308 2016
14
Semilobar Holoprosencephaly Associated with Multiple Malformations in a Foal. 61
25712180 2016
15
Holoprosencephaly and Pure Red Cell Aplasia in a Feline Leukaemia Virus-Positive Kitten. 61
26897097 2016
16
Central Diabetes Insipidus in Infancy With or Without Hypothalamic Adipsic Hypernatremia Syndrome: Early Identification and Outcome. 61
26588450 2016
17
Variant course of bilateral anterior cerebral artery in semilobar holoprosencephaly. 61
26027553 2015
18
Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate. 61
26495165 2015
19
A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES. 61
26349191 2015
20
Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities. 61
26719767 2015
21
Semilobar holoprosencephaly with 21q22 deletion: an autopsy report. 61
24626384 2014
22
Prenatal diagnosis of de novo monosomy 7q33-qter associated with hydrops fetalis, semilobar holoprosencephaly, and premaxillary dysgenesis. 61
24411055 2013
23
Semilobar Holoprosencephaly with Neurogenic Hypernatraemia: Two new cases. 61
23984038 2013
24
Vertically oval corneas in a child with holoprosencephaly. 61
22800857 2012
25
Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. 61
22353298 2012
26
Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn. 61
23072180 2012
27
Semilobar holoprosencephaly with a unique traversed sylvian sulcus. 61
21208253 2011
28
[Holoprosencephaly: pathogenesis, phenotypic characteristics. About four cases]. 61
21795094 2011
29
Central diabetes insipidus in newborns: unique challenges in management. 61
22783645 2011
30
[Clinical application of diffusion tensor imaging and tractography in a child with holoprosencephaly]. 61
22159531 2011
31
Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations. 61
21482381 2011
32
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. 61
21204232 2011
33
Holoprosencephaly and genitourinary anomalies in fetal methotrexate syndrome. 61
20578136 2010
34
Genoa syndrome and central diabetes insipidus: a case report. 61
21274346 2010
35
A preterm infant with semilobar holoprosencephaly and hydrocephalus: a case report. 61
20180992 2010
36
Down syndrome (trisomy 21) with premaxillary agenesis and semilobar holoprosencephaly. 61
19876909 2009
37
Semilobar holoprosencephaly with associated cyclopia and radial aplasia: first trimester diagnosis by means of integrating 2D-3D ultrasound. 61
19221775 2009
38
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. 61
19449411 2009
39
MR angiography of a 1-year-old girl with semilobar holoprosencephaly. 61
19179426 2009
40
Sensory function in severe semilobar holoprosencephaly. 61
19153870 2009
41
Early prenatal diagnosis of semilobar holoprosencephaly combined with a dorsal cyst and no facial defect. 61
19126512 2008
42
Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance. 61
18773678 2008
43
Semilobar holoprosencephaly in Seckel syndrome. 61
18537018 2008
44
Prenatal MRI image of a fetus with semilobar holoprosencephaly. 61
21654965 2008
45
Holoprosencephaly and diabetes insipidus in a 3-month-old infant. 61
18079312 2008
46
[Holoprosencephaly. Role of magnetic resonance imaging in prenatal diagnosis]. 61
17910877 2007
47
Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype. 61
17269127 2007
48
[Semilobar holoprosencephaly]. 61
17058641 2006
49
Coincidence of semilobar holoprosencephaly and Chiari II malformation: correlation of prenatal diagnostics and neuropathologic findings. 61
16901451 2006
50
Three-dimensional ultrasonographic reslicing of the fetal brain to assist prenatal diagnosis of central nervous system anomalies. 61
16567440 2006

Variations for Semilobar Holoprosencephaly

ClinVar genetic disease variations for Semilobar Holoprosencephaly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR1 NM_023110.2(FGFR1):c.1977+1G>A SNV Likely pathogenic 235087 rs876661334 GRCh37: 8:38272296-38272296
GRCh38: 8:38414778-38414778
2 FGF8 NM_033163.4(FGF8):c.317C>A (p.Ala106Glu) SNV Likely pathogenic 235080 rs876661328 GRCh37: 10:103534509-103534509
GRCh38: 10:101774752-101774752
3 FGF8 NM_033163.4(FGF8):c.356C>T (p.Thr119Met) SNV Likely pathogenic 235081 rs876661329 GRCh37: 10:103531308-103531308
GRCh38: 10:101771551-101771551

Expression for Semilobar Holoprosencephaly

Search GEO for disease gene expression data for Semilobar Holoprosencephaly.

Pathways for Semilobar Holoprosencephaly

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1 12.64 SHH PTCH1 GLI2 FGFR1 FGF8 DLL1
2
Show member pathways
12.41 SHH PTCH1 GLI2 GAS1 CDON
3
Show member pathways
12.28 ZIC2 NODAL GLI2 FOXH1 FGFR1 FGF8
4
Show member pathways
12.1 TDGF1 GAS1 FGFR1 FGF8
5 11.98 TDGF1 SHH PTCH1 GLI2 DLL1
6 11.76 FGFR1 FGF8 DLL1
7 11.63 SHH FGFR1 FGF8
8 11.58 TDGF1 GAS1 FGFR1 FGF8
9
Show member pathways
11.41 TDGF1 NODAL FOXH1
10 11.38 SHH NODAL FGF8
11 11.35 SHH FOXH1 FGF8
12 11.31 SHH PTCH1 GLI2
13 11.22 SHH PTCH1 GLI2
14 11.06 SHH GLI2 FGF8
15
Show member pathways
10.87 SHH PTCH1 GLI2 GAS1 CDON
16 10.85 SHH PTCH1 GLI2 GAS1 DISP1 CDON
17
Show member pathways
10.82 SHH PTCH1 GLI2
18 10.61 FGF8 DLL1
19 10.45 SHH PTCH1
20 10.41 TGIF1 SHH NODAL FGF8

GO Terms for Semilobar Holoprosencephaly

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

# Name GO ID Score Top Affiliating Genes
1 cohesin complex GO:0008278 8.62 STAG2 SMC1A

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

(show top 50) (show all 59)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.19 SIX3 SHH NODAL GLI2 FOXH1 DLL1
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.1 TGIF1 SHH PTCH1 NODAL GLI2 FOXH1
3 multicellular organism development GO:0007275 10.02 ZIC2 SIX3 SHH NODAL GLI2 FGFR1
4 brain development GO:0007420 9.99 ZIC2 SIX3 PTCH1 NODAL
5 heart development GO:0007507 9.92 TDGF1 SHH NODAL GLI2 FGF8
6 positive regulation of cell proliferation GO:0008284 9.91 TDGF1 SHH NODAL GLI2 FGFR1 FGF8
7 positive regulation of neuron differentiation GO:0045666 9.87 GLI2 FGFR1 CDON
8 anatomical structure development GO:0048856 9.83 TDGF1 SHH GLI2
9 negative regulation of cell differentiation GO:0045596 9.82 SHH NODAL DLL1
10 lung development GO:0030324 9.81 SHH NODAL GLI2 FGF8
11 pattern specification process GO:0007389 9.8 SHH PTCH1 GLI2
12 positive regulation of cell differentiation GO:0045597 9.79 SHH FGFR1 FGF8
13 branching involved in ureteric bud morphogenesis GO:0001658 9.77 SHH PTCH1 FGF8
14 cell fate commitment GO:0045165 9.76 SHH NODAL GAS1 FGF8
15 mammary gland development GO:0030879 9.74 TDGF1 PTCH1 GLI2
16 lung morphogenesis GO:0060425 9.73 SHH FGF8
17 smoothened signaling pathway GO:0007224 9.73 SHH PTCH1 GLI2 CDON
18 embryonic morphogenesis GO:0048598 9.72 SHH CDON
19 striated muscle cell differentiation GO:0051146 9.72 SHH CDON
20 hindbrain development GO:0030902 9.72 SHH GLI2
21 cell fate determination GO:0001709 9.72 PTCH1 DLL1
22 pharyngeal system development GO:0060037 9.72 PTCH1 FGF8
23 embryonic pattern specification GO:0009880 9.72 SHH NODAL DISP1
24 male genitalia development GO:0030539 9.71 SHH FGF8
25 osteoblast development GO:0002076 9.71 SHH GLI2
26 somite development GO:0061053 9.71 SHH PTCH1
27 embryonic heart tube development GO:0035050 9.71 NODAL FGF8
28 aorta morphogenesis GO:0035909 9.71 FOXH1 FGF8
29 developmental growth GO:0048589 9.71 SHH GLI2 GAS1
30 trophectodermal cell differentiation GO:0001829 9.7 NODAL CNOT1
31 negative regulation of androgen receptor signaling pathway GO:0060766 9.7 NODAL FOXH1
32 negative regulation of intracellular estrogen receptor signaling pathway GO:0033147 9.7 FOXH1 CNOT1
33 regulation of stem cell population maintenance GO:2000036 9.7 NODAL CNOT1
34 digestive tract morphogenesis GO:0048546 9.69 SHH NODAL
35 prostate gland development GO:0030850 9.69 SHH PTCH1
36 branching involved in salivary gland morphogenesis GO:0060445 9.68 SHH FGF8
37 smooth muscle tissue development GO:0048745 9.68 SHH PTCH1
38 cell proliferation in forebrain GO:0021846 9.68 SIX3 FGF8
39 metanephric collecting duct development GO:0072205 9.67 SHH PTCH1
40 nodal signaling pathway GO:0038092 9.67 TDGF1 NODAL
41 positive regulation of T cell differentiation in thymus GO:0033089 9.67 SHH GLI2
42 spinal cord motor neuron differentiation GO:0021522 9.67 SHH PTCH1 GLI2
43 positive regulation of skeletal muscle tissue development GO:0048643 9.66 SHH CDON
44 telencephalon regionalization GO:0021978 9.66 SIX3 SHH
45 forebrain dorsal/ventral pattern formation GO:0021798 9.65 SIX3 FGF8
46 anatomical structure formation involved in morphogenesis GO:0048646 9.65 SHH NODAL GLI2
47 heart looping GO:0001947 9.65 SHH NODAL FOXH1 FGF8 DLL1
48 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.64 PTCH1 GLI2
49 mammary gland duct morphogenesis GO:0060603 9.63 PTCH1 GLI2
50 anterior/posterior pattern specification GO:0009952 9.63 TDGF1 SHH NODAL GLI2 FOXH1 CDON

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

# Name GO ID Score Top Affiliating Genes
1 co-SMAD binding GO:0070410 9.16 TGIF1 FOXH1
2 patched binding GO:0005113 8.96 SHH PTCH1
3 morphogen activity GO:0016015 8.62 SHH NODAL

Sources for Semilobar Holoprosencephaly

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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