MCID: LBR025
MIFTS: 47

Lobar Holoprosencephaly

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

Aliases & Classifications for Lobar Holoprosencephaly

MalaCards integrated aliases for Lobar Holoprosencephaly:

Name: Lobar Holoprosencephaly 58 54 6

Characteristics:

Orphanet epidemiological data:

58
lobar 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 Lobar Holoprosencephaly

MalaCards based summary : Lobar Holoprosencephaly is related to anus, imperforate and cleft palate, isolated. An important gene associated with Lobar Holoprosencephaly is PTCH1 (Patched 1), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. Affiliated tissues include brain, heart and lung, and related phenotypes are hypotelorism and intellectual disability

Related Diseases for Lobar Holoprosencephaly

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

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 anus, imperforate 29.9 SHH GLI2 FGF8
2 cleft palate, isolated 29.5 SHH PTCH1 GLI2 FGFR1 FGF8
3 microcephaly 29.3 ZIC2 STIL SHH PTCH1 GLI2 FGF8
4 patau syndrome 28.8 ZIC2 SIX3 SHH NODAL FOXH1 DISP1
5 orofacial cleft 28.7 ZIC2 SIX3 SHH PTCH1 GLI2 FGFR1
6 holoprosencephaly 27.7 ZIC2 TGIF1 TDGF1 STIL SIX3 SHH
7 semilobar holoprosencephaly 26.0 ZIC2 TGIF1 TDGF1 SIX3 SHH PTCH1
8 cleft lip 10.3
9 hartsfield syndrome 10.2 FGFR1 FGF8
10 calcifying epithelial odontogenic tumor 10.2 PTCH1 GLI2
11 cleft lip/palate 10.2
12 tooth size 10.1 SHH FGF8
13 polydactyly, preaxial ii 10.1 SHH PTCH1
14 yemenite deaf-blind hypopigmentation syndrome 10.1
15 diabetes insipidus 10.1
16 chromosomal triplication 10.1
17 cerebellum cancer 10.1 SHH PTCH1
18 tumoral calcinosis, hyperphosphatemic, familial, 1 10.1 SHH PTCH1 FGFR1
19 cerebellar medulloblastoma 10.1 SHH PTCH1
20 megaesophagus 10.0 FGFR1 CDON
21 holoprosencephaly 8 10.0 ZIC2 DISP1 CDON
22 brachydactyly, type a1 10.0 SHH PTCH1 CDON
23 apert syndrome 10.0 SHH FGFR1 FGF8
24 crouzon syndrome 10.0 SHH FGFR1 FGF8
25 keratocystic odontogenic tumor 10.0 SHH PTCH1
26 bone development disease 10.0 SHH FGFR1 FGF8
27 melanotic medulloblastoma 10.0 SHH PTCH1 GLI2
28 nodular medulloblastoma 10.0 SHH PTCH1 GLI2
29 central nervous system lipoma 10.0 ZIC2 SIX3
30 adult medulloblastoma 10.0 SHH PTCH1 GLI2
31 greig cephalopolysyndactyly syndrome 10.0 SHH PTCH1 GLI2
32 holoprosencephaly, recurrent infections, and monocytosis 10.0 SIX3 PTCH1 GLI2
33 skeletal muscle cancer 10.0 SHH PTCH1 GLI2
34 synostosis 10.0 SHH FGFR1 FGF8
35 double outlet right ventricle 9.9 NODAL FOXH1 FGF8
36 infratentorial cancer 9.9 SHH PTCH1 GLI2
37 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
38 diastematomyelia 9.9
39 fanconi anemia, complementation group a 9.9
40 phenylketonuria 9.9
41 schizencephaly 9.9
42 corpus callosum, partial agenesis of, x-linked 9.9
43 ataxia and polyneuropathy, adult-onset 9.9
44 sacral defect with anterior meningocele 9.9
45 microcephaly 7, primary, autosomal recessive 9.9
46 fanconi anemia, complementation group o 9.9
47 alacrima, achalasia, and mental retardation syndrome 9.9
48 deficiency anemia 9.9
49 myelomeningocele 9.9
50 primary autosomal recessive microcephaly 9.9

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



Diseases related to Lobar Holoprosencephaly

Symptoms & Phenotypes for Lobar Holoprosencephaly

Human phenotypes related to Lobar Holoprosencephaly:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000601
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
4 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
5 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
6 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
7 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
10 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
11 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
12 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
13 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
14 diabetes insipidus 58 31 frequent (33%) Frequent (79-30%) HP:0000873
15 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
16 median cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0000161
17 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
18 aspiration pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0011951
19 abnormality of the autonomic nervous system 58 31 frequent (33%) Frequent (79-30%) HP:0002270
20 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
21 chronic lung disease 58 31 frequent (33%) Frequent (79-30%) HP:0006528
22 abnormal hypothalamus physiology 58 31 frequent (33%) Frequent (79-30%) HP:0012285
23 sleep-wake cycle disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0006979
24 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
25 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
26 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
27 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
28 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
29 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
30 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
31 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
32 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
33 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
34 panhypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000871
35 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
36 abnormal heart morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001627
37 abnormality of the genitourinary system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000119
38 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
39 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
40 limb dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002451
41 central apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002871
42 cerebral visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100704
43 abnormality of brainstem morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002363
44 morphological abnormality of the gastrointestinal tract 58 31 occasional (7.5%) Occasional (29-5%) HP:0012718
45 temperature instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0005968
46 central hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0011787
47 infantile axial hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009062
48 oromotor apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007301
49 abnormal heart rate variability 58 31 occasional (7.5%) Occasional (29-5%) HP:0031860
50 aplasia of the falx cerebri 58 31 occasional (7.5%) Occasional (29-5%) HP:0010654

MGI Mouse Phenotypes related to Lobar Holoprosencephaly:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.44 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
2 cellular MP:0005384 10.41 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
3 cardiovascular system MP:0005385 10.39 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
4 growth/size/body region MP:0005378 10.39 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
5 craniofacial MP:0005382 10.37 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
6 mortality/aging MP:0010768 10.36 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
7 digestive/alimentary MP:0005381 10.33 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
8 behavior/neurological MP:0005386 10.32 CDON DLL1 FGF8 FGFR1 GAS1 GLI2
9 nervous system MP:0003631 10.31 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
10 limbs/digits/tail MP:0005371 10.22 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
11 endocrine/exocrine gland MP:0005379 10.18 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
12 hearing/vestibular/ear MP:0005377 10.15 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2
13 normal MP:0002873 10.1 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
14 muscle MP:0005369 10.09 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 no phenotypic analysis MP:0003012 9.85 FGFR1 FOXH1 GLI2 NODAL PTCH1 SHH
18 vision/eye MP:0005391 9.47 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
19 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1

Drugs & Therapeutics for Lobar Holoprosencephaly

Search Clinical Trials , NIH Clinical Center for Lobar Holoprosencephaly

Genetic Tests for Lobar Holoprosencephaly

Anatomical Context for Lobar Holoprosencephaly

MalaCards organs/tissues related to Lobar Holoprosencephaly:

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

Publications for Lobar Holoprosencephaly

Articles related to Lobar Holoprosencephaly:

(show top 50) (show all 97)
# Title Authors PMID Year
1
Variable phenotypic manifestations of a K44N mutation in the TGIF gene. 61 54
17825514 2008
2
A case of lobar holoprosencephaly: brain and facial typical features. 61
33798482 2021
3
Keratan sulfate proteoglycan as an axonal insulating barrier in the forebrain of fetuses with alobar/semi-lobar holoprosencephaly. 61
33287953 2021
4
Aventriculi associated with holoprosencephaly in a dog. 61
33009835 2020
5
Lobar holoprosencephaly with craniofacial defects in a Friesian calf: A case report. 61
31972069 2020
6
Holoprosencephaly in Kabuki syndrome. 61
31846209 2020
7
External and computed tomography analysis of a strophocephalic lamb. 61
30853367 2019
8
MRI of lobar holoprosencephaly in a cat with hypodipsic hypernatraemia. 61
30263144 2018
9
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. 61
29278735 2018
10
Presence of Probst Bundles Indicate White Matter Remodeling in a Dog With Corpus Callosum Hypoplasia and Dysplasia. 61
30406119 2018
11
Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate. 61
28771384 2017
12
Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects. 61
28883880 2017
13
Primary Abbe Flap for Median Cleft Lip Deformity: New Trends on an Old Concept. 61
26967082 2016
14
Subcortical heterotopia appearing as huge midline mass in the newborn brain. 61
26231566 2016
15
Rare Disease: Lobar Holoprosencephaly With a Median Cleft Lip-Case Report. 61
25291088 2016
16
Correlation of bispectral index (BIS) monitoring and end-tidal sevoflurane concentration in a patient with lobar holoprosencephaly. 61
26323737 2015
17
[Correlation of bispectral index (BIS) monitoring and end-tidal sevoflurane concentration in a patient with lobar holoprosencephaly]. 61
25746337 2015
18
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. 61
25218063 2015
19
Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys. 61
25257335 2014
20
Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature. 61
25257307 2014
21
Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function. 61
25063195 2014
22
Corpus callosal abnormalities in dogs. 61
24839863 2014
23
Precocious synapses in 13.5-week fetal holoprosencephalic cortex and cyclopean retina. 61
24529974 2014
24
Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis. 61
23640781 2014
25
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting. 61
22887648 2012
26
Clinical findings in patients with GLI2 mutations--phenotypic variability. 61
21204792 2012
27
Recurrent pleural effusion without intrathoracic migration of ventriculoperitoneal shunt catheter: a case report. 61
22170808 2012
28
Holoprosencephaly: two case reports. 61
23118821 2012
29
An acardiac twin with advanced brain development and a minor form of holoprosencephaly and intracerebral retina-like pigmented tissue: a case report and review of the literature. 61
21488711 2011
30
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. 61
21638761 2011
31
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. 61
21509087 2010
32
Lobar holoprosencephaly with a median cleft: case report. 61
19929095 2009
33
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. 61
19057916 2009
34
Sensory function in severe semilobar holoprosencephaly. 61
19153870 2009
35
Unique mosaic X/Y translocation/insertion in infant 45,X male. 61
19012335 2008
36
Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21). 61
19239091 2008
37
[Analysis of ultrasonic scans and karyotype of fetuses with holoprosencephaly diagnosed in the Department of Obstetrics & Gynecology of the Postgraduate Center of Medical Education between 1997 & 2005]. 61
17899700 2007
38
3D sonographic prenatal diagnosis of lobar holoprosencephaly associated with cebocephaly. Assessment and diagnosis with multiplanar reconstruction. 61
17546700 2007
39
Focal cerebral mantle disruption in fetal hydrocephalus. 61
17437906 2007
40
Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association. 61
17230485 2007
41
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 61
17096318 2006
42
PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 61
17001668 2006
43
Holoprosencephaly: clinical, anatomic, and molecular dimensions. 61
17001700 2006
44
Auditory event-related responses in children with semi-lobar holoprosencephaly. 61
16481137 2006
45
Lobar holoprosencephaly: prenatal MR diagnosis with postnatal MR correlation. 61
15849803 2005
46
Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly? 61
15791668 2005
47
Prenatal diagnosis of lobar holoprosencephaly using color Doppler: three cases with the anterior cerebral artery crawling under the skull. 61
15343609 2004
48
Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation. 61
15503488 2004
49
Lobar holoprosencephaly in a Miniature Schnauzer with hypodipsic hypernatremia. 61
14690207 2003
50
Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up. 61
14564207 2003

Variations for Lobar Holoprosencephaly

ClinVar genetic disease variations for Lobar Holoprosencephaly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR1 NM_023110.2(FGFR1):c.749G>C (p.Arg250Pro) SNV Likely pathogenic 235084 rs121909645 GRCh37: 8:38282214-38282214
GRCh38: 8:38424696-38424696
2 DISP1 NM_032890.5(DISP1):c.1657G>A (p.Glu553Lys) SNV Uncertain significance 235092 rs760562145 GRCh37: 1:223176396-223176396
GRCh38: 1:223003054-223003054
3 DISP1 NM_032890.5(DISP1):c.1087A>G (p.Asn363Asp) SNV Uncertain significance 235091 rs876661336 GRCh37: 1:223175826-223175826
GRCh38: 1:223002484-223002484

Expression for Lobar Holoprosencephaly

Search GEO for disease gene expression data for Lobar Holoprosencephaly.

Pathways for Lobar Holoprosencephaly

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1 12.61 SHH PTCH1 GLI2 FGFR1 FGF8 DLL1
2
Show member pathways
12.39 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 11.24 SHH PTCH1 GLI2
14 11.18 SHH PTCH1 GLI2 GAS1 DISP1 CDON
15 11.09 SHH GLI2 FGF8
16
Show member pathways
10.82 SHH PTCH1 GLI2
17
Show member pathways
10.62 STIL SHH PTCH1 GLI2 GAS1 CDON
18 10.61 FGF8 DLL1
19 10.45 SHH PTCH1
20 10.41 TGIF1 SHH NODAL FGF8

GO Terms for Lobar Holoprosencephaly

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

(show top 50) (show all 66)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.17 ZIC2 TDGF1 KAZALD1 GLI2 FGF8 DLL1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 SIX3 SHH NODAL GLI2 FOXH1 DLL1
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.15 TGIF1 SHH PTCH1 NODAL GLI2 FOXH1
4 positive regulation of transcription, DNA-templated GO:0045893 10.12 ZIC2 SHH PTCH1 GLI2 FOXH1
5 negative regulation of apoptotic process GO:0043066 10.07 TDGF1 STIL SHH GLI2 FGF8
6 brain development GO:0007420 9.99 ZIC2 SIX3 PTCH1 NODAL
7 in utero embryonic development GO:0001701 9.96 STIL PTCH1 NODAL GLI2
8 positive regulation of cell proliferation GO:0008284 9.95 TDGF1 SHH NODAL GLI2 FGFR1 FGF8
9 kidney development GO:0001822 9.91 SHH GLI2 FGF8
10 heart development GO:0007507 9.91 TDGF1 SHH NODAL GLI2 FGF8
11 multicellular organism development GO:0007275 9.9 ZIC2 STIL SIX3 SHH NODAL KAZALD1
12 positive regulation of neuron differentiation GO:0045666 9.87 GLI2 FGFR1 CDON
13 anatomical structure development GO:0048856 9.83 TDGF1 SHH GLI2
14 lung development GO:0030324 9.83 SHH NODAL GLI2 FGF8
15 negative regulation of cell differentiation GO:0045596 9.82 SHH NODAL DLL1
16 pattern specification process GO:0007389 9.81 SHH PTCH1 GLI2
17 anterior/posterior pattern specification GO:0009952 9.8 TDGF1 SHH NODAL GLI2 FOXH1 CDON
18 regulation of signal transduction GO:0009966 9.79 TDGF1 NODAL KAZALD1
19 positive regulation of cell differentiation GO:0045597 9.78 SHH FGFR1 FGF8
20 branching involved in ureteric bud morphogenesis GO:0001658 9.77 SHH PTCH1 FGF8
21 smoothened signaling pathway GO:0007224 9.77 STIL SHH PTCH1 GLI2 CDON
22 cell fate commitment GO:0045165 9.76 SHH NODAL GAS1 FGF8
23 dopaminergic neuron differentiation GO:0071542 9.74 SHH FGF8
24 thyroid gland development GO:0030878 9.74 SHH FGF8
25 embryo development ending in birth or egg hatching GO:0009792 9.73 TDGF1 FGF8
26 regulation of smoothened signaling pathway GO:0008589 9.73 PTCH1 GAS1
27 lung morphogenesis GO:0060425 9.73 SHH FGF8
28 embryonic morphogenesis GO:0048598 9.73 SHH CDON
29 mammary gland development GO:0030879 9.73 TDGF1 PTCH1 GLI2
30 striated muscle cell differentiation GO:0051146 9.72 SHH CDON
31 hindbrain development GO:0030902 9.72 SHH GLI2
32 cell fate determination GO:0001709 9.72 PTCH1 DLL1
33 pharyngeal system development GO:0060037 9.72 PTCH1 FGF8
34 male genitalia development GO:0030539 9.72 SHH FGF8
35 embryonic pattern specification GO:0009880 9.72 SHH NODAL DISP1
36 osteoblast development GO:0002076 9.71 SHH GLI2
37 somite development GO:0061053 9.71 SHH PTCH1
38 embryonic heart tube development GO:0035050 9.71 NODAL FGF8
39 aorta morphogenesis GO:0035909 9.71 FOXH1 FGF8
40 negative regulation of androgen receptor signaling pathway GO:0060766 9.71 NODAL FOXH1
41 developmental growth GO:0048589 9.71 SHH GLI2 GAS1
42 digestive tract morphogenesis GO:0048546 9.7 SHH NODAL
43 prostate gland development GO:0030850 9.7 SHH PTCH1
44 branching involved in salivary gland morphogenesis GO:0060445 9.69 SHH FGF8
45 smooth muscle tissue development GO:0048745 9.69 SHH PTCH1
46 cell proliferation in forebrain GO:0021846 9.69 SIX3 FGF8
47 metanephric collecting duct development GO:0072205 9.68 SHH PTCH1
48 nodal signaling pathway GO:0038092 9.68 TDGF1 NODAL
49 positive regulation of T cell differentiation in thymus GO:0033089 9.68 SHH GLI2
50 positive regulation of skeletal muscle tissue development GO:0048643 9.67 SHH CDON

Molecular functions related to Lobar 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 Lobar 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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