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MCID: LBR025
MIFTS: 47

Lobar Holoprosencephaly

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lobar Holoprosencephaly

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MalaCards integrated aliases for Lobar Holoprosencephaly:

Name: Lobar Holoprosencephaly 58 53 5

Characteristics:


Inheritance:

Multigenic/multifactorial 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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Summaries for Lobar Holoprosencephaly

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Orphanet: 58 A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partial) and/or flat nose amongst other features.

MalaCards based summary: Lobar Holoprosencephaly is related to cleft lip and anus, imperforate. An important gene associated with Lobar Holoprosencephaly is PTCH1 (Patched 1), and among its related pathways/superpathways are Signal Transduction and NF-KappaB Family Pathway. Affiliated tissues include brain, olfactory bulb and hypothalamus, and related phenotypes are hypotelorism and intellectual disability
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Related Diseases for Lobar Holoprosencephaly

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

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 cleft lip 30.3 SHH PTCH1 FGFR1 FGF8
2 anus, imperforate 30.0 SHH GLI2 FGF8
3 ventricular septal defect 29.9 NODAL FOXH1 FGF8
4 schizencephaly 29.7 SIX3 SHH
5 cleft palate, isolated 29.4 SHH PTCH1 GLI2 FGFR1 FGF8
6 patau syndrome 28.7 ZIC2 SIX3 SHH NODAL GLI2 FOXH1
7 pallister-hall syndrome 28.5 ZIC2 SIX3 SHH PTCH1 GLI2 GAS1
8 orofacial cleft 28.3 ZIC2 SIX3 SHH PTCH1 GLI2 FGFR1
9 holoprosencephaly 28.1 ZIC2 TGIF1 TDGF1 STIL SIX3 SHH
10 semilobar holoprosencephaly 26.0 ZIC2 TGIF1 TDGF1 STIL SIX3 SHH
11 microcephaly 10.3
12 corpus callosum, agenesis of 10.3
13 polydactyly, preaxial ii 10.2 SHH PTCH1
14 cleft lip/palate 10.2
15 vulva basal cell carcinoma 10.2 SHH PTCH1
16 cerebellar medulloblastoma 10.1 SHH PTCH1
17 dandy-walker syndrome 10.1
18 central diabetes insipidus 10.1
19 diabetes insipidus 10.1
20 cerebellum cancer 10.1 SHH PTCH1
21 large cell medulloblastoma 10.1 SHH PTCH1 GLI2
22 hartsfield syndrome 10.1 FGFR1 FGF8
23 desmoplastic nodular medulloblastoma 10.1 SHH PTCH1 GLI2
24 adult medulloblastoma 10.1 SHH PTCH1 GLI2
25 micronodular basal cell carcinoma 10.1 SHH PTCH1 GLI2
26 joubert syndrome 8 10.1 SHH PTCH1 GLI2
27 joubert syndrome 32 10.1 SHH PTCH1 GLI2
28 acrocapitofemoral dysplasia 10.1 SHH PTCH1
29 holoprosencephaly, recurrent infections, and monocytosis 10.1 SIX3 PTCH1 GLI2
30 focal dermal hypoplasia 10.1 SHH PTCH1 GLI2
31 childhood medulloblastoma 10.1 SHH PTCH1 GLI2
32 atypical teratoid rhabdoid tumor 10.0 SHH PTCH1 GLI2
33 pancreas, annular 10.0 SHH NODAL
34 normosmic congenital hypogonadotropic hypogonadism 10.0 FGFR1 FGF8
35 colobomatous microphthalmia 10.0 SIX3 SHH PTCH1
36 infratentorial cancer 10.0 SHH PTCH1 GLI2
37 syndactyly, type iv 10.0 SHH FGF8
38 brachydactyly, type a1 10.0 SHH PTCH1 GAS1 CDON
39 ellis-van creveld syndrome 10.0 SHH PTCH1 GLI2
40 diabetes insipidus, neurohypophyseal 10.0
41 diastematomyelia 10.0
42 fanconi anemia, complementation group a 10.0
43 glaucoma 3, primary congenital, a 10.0
44 hydrocephalus, congenital, 1 10.0
45 pallister-hall-like syndrome 10.0
46 papillon-lefevre syndrome 10.0
47 phenylketonuria 10.0
48 corpus callosum, partial agenesis of, x-linked 10.0
49 sacral defect with anterior meningocele 10.0
50 microcephaly 7, primary, autosomal recessive 10.0

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



Diseases related to Lobar Holoprosencephaly
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Symptoms & Phenotypes for Lobar Holoprosencephaly

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Human phenotypes related to Lobar Holoprosencephaly:

58 30 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotelorism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000601
2 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001249
3 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001508
4 depression 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000716
5 constipation 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002019
6 high palate 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000218
7 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000407
8 short stature 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004322
9 gastroesophageal reflux 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002020
10 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007018
11 anxiety 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000739
12 specific learning disability 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001328
13 irritability 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000737
14 diabetes insipidus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000873
15 depressed nasal ridge 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000457
16 median cleft lip 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000161
17 aspiration pneumonia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0011951
18 poor suck 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002033
19 abnormality of the autonomic nervous system 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002270
20 poor speech 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002465
21 chronic lung disease 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006528
22 abnormal hypothalamus physiology 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012285
23 sleep-wake cycle disturbance 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006979
24 macrocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000256
25 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001250
26 spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001257
27 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001274
28 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002650
29 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002015
30 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000238
31 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000252
32 vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002013
33 hip dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002827
34 lethargy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001254
35 panhypopituitarism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000871
36 bifid uvula 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000193
37 abnormal heart morphology 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001627
38 abnormality of the genitourinary system 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000119
39 gastrostomy tube feeding in infancy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011471
40 apathy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000741
41 limb dystonia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002451
42 central apnea 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002871
43 cerebral visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100704
44 abnormal brainstem morphology 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002363
45 morphological abnormality of the gastrointestinal tract 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012718
46 central hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011787
47 temperature instability 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005968
48 infantile axial hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0009062
49 oromotor apraxia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007301
50 abnormal heart rate variability 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0031860

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.07 CDON DISP1 DLL1 FGFR1 FOXH1 GAS1
2 no effect GR00402-S-2 10.07 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2

MGI Mouse Phenotypes related to Lobar Holoprosencephaly:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.48 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
2 growth/size/body region MP:0005378 10.41 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
3 embryo MP:0005380 10.41 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
4 normal MP:0002873 10.37 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
5 digestive/alimentary MP:0005381 10.31 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
6 limbs/digits/tail MP:0005371 10.3 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
7 cellular MP:0005384 10.3 CDON DISP1 DLL1 FGF8 FGFR1 GAS1
8 craniofacial MP:0005382 10.29 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
9 cardiovascular system MP:0005385 10.25 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
10 muscle MP:0005369 10.22 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
11 endocrine/exocrine gland MP:0005379 10.22 DISP1 DLL1 FGF8 FGFR1 FOXH1 GLI2
12 hearing/vestibular/ear MP:0005377 10.2 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2
13 behavior/neurological MP:0005386 10.14 CDON DLL1 FGF8 FGFR1 GAS1 GLI2
14 respiratory system MP:0005388 10.1 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
15 skeleton MP:0005390 10.1 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
16 immune system MP:0005387 10.07 DLL1 FGF8 FGFR1 FOXH1 NODAL PTCH1
17 no phenotypic analysis MP:0003012 10.06 FGFR1 FOXH1 GLI2 NODAL PTCH1 SHH
18 vision/eye MP:0005391 10 CDON DISP1 FGF8 FGFR1 FOXH1 GAS1
19 mortality/aging MP:0010768 9.53 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1
20 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1
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Drugs & Therapeutics for Lobar Holoprosencephaly

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Search Clinical Trials, NIH Clinical Center for Lobar Holoprosencephaly

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Genetic Tests for Lobar Holoprosencephaly

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Anatomical Context for Lobar Holoprosencephaly

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Organs/tissues related to Lobar Holoprosencephaly:

MalaCards : Brain, Olfactory Bulb, Hypothalamus, Heart, Lung, Eye, Retina
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Publications for Lobar Holoprosencephaly

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Articles related to Lobar Holoprosencephaly:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Variable phenotypic manifestations of a K44N mutation in the TGIF gene. 53 62
17825514 2008
2
Sinus pericranii associated with syntelencephaly: a case report. 62
36008788 2022
3
Campylobacter jejuni subdural hygroma infection in a 2-year old boy: case report and a brief literature review. 62
35987621 2022
4
Successful treatment of hypodipsic/adipsic hypernatremia in a cat with lobar holoprosencephaly using oral desmopressin. 62
35342639 2022
5
Varied presentation of lobar holoprosencephaly as a cause of macrocephaly in a neonate. 62
35046080 2022
6
Holoprosencephalia, hypoplasia of corpus callosum and cerebral heterotopia in a male belted Galloway heifer with adipsia. 62
35057802 2022
7
A case of lobar holoprosencephaly: brain and facial typical features. 62
33798482 2021
8
MRI imaging of prenatal-postatal brain malformations. 62
33981374 2021
9
Keratan sulfate proteoglycan as an axonal insulating barrier in the forebrain of fetuses with alobar/semi-lobar holoprosencephaly. 62
33287953 2021
10
Aventriculi associated with holoprosencephaly in a dog. 62
33009835 2020
11
Lobar holoprosencephaly with craniofacial defects in a Friesian calf: A case report. 62
31972069 2020
12
Holoprosencephaly in Kabuki syndrome. 62
31846209 2020
13
External and computed tomography analysis of a strophocephalic lamb. 62
30853367 2019
14
MRI of lobar holoprosencephaly in a cat with hypodipsic hypernatraemia. 62
30263144 2018
15
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. 62
29278735 2018
16
Presence of Probst Bundles Indicate White Matter Remodeling in a Dog With Corpus Callosum Hypoplasia and Dysplasia. 62
30406119 2018
17
Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate. 62
28771384 2017
18
Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects. 62
28883880 2017
19
Primary Abbe Flap for Median Cleft Lip Deformity: New Trends on an Old Concept. 62
26967082 2016
20
Subcortical heterotopia appearing as huge midline mass in the newborn brain. 62
26231566 2016
21
Rare Disease: Lobar Holoprosencephaly With a Median Cleft Lip-Case Report. 62
25291088 2016
22
Correlation of bispectral index (BIS) monitoring and end-tidal sevoflurane concentration in a patient with lobar holoprosencephaly. 62
26323737 2015
23
[Correlation of bispectral index (BIS) monitoring and end-tidal sevoflurane concentration in a patient with lobar holoprosencephaly]. 62
25746337 2015
24
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. 62
25218063 2015
25
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. 62
25257307 2014
26
Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys. 62
25257335 2014
27
Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function. 62
25063195 2014
28
Corpus callosal abnormalities in dogs. 62
24839863 2014
29
Precocious synapses in 13.5-week fetal holoprosencephalic cortex and cyclopean retina. 62
24529974 2014
30
Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis. 62
23640781 2014
31
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting. 62
22887648 2012
32
Holoprosencephaly: two case reports. 62
23118821 2012
33
Clinical findings in patients with GLI2 mutations--phenotypic variability. 62
21204792 2012
34
Recurrent pleural effusion without intrathoracic migration of ventriculoperitoneal shunt catheter: a case report. 62
22170808 2012
35
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. 62
21488711 2011
36
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. 62
21638761 2011
37
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. 62
21509087 2010
38
Lobar holoprosencephaly with a median cleft: case report. 62
19929095 2009
39
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. 62
19057916 2009
40
Sensory function in severe semilobar holoprosencephaly. 62
19153870 2009
41
Unique mosaic X/Y translocation/insertion in infant 45,X male. 62
19012335 2008
42
Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21). 62
19239091 2008
43
[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]. 62
17899700 2007
44
3D sonographic prenatal diagnosis of lobar holoprosencephaly associated with cebocephaly. Assessment and diagnosis with multiplanar reconstruction. 62
17546700 2007
45
Focal cerebral mantle disruption in fetal hydrocephalus. 62
17437906 2007
46
Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association. 62
17230485 2007
47
PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 62
17001668 2006
48
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 62
17096318 2006
49
Holoprosencephaly: clinical, anatomic, and molecular dimensions. 62
17001700 2006
50
Auditory event-related responses in children with semi-lobar holoprosencephaly. 62
16481137 2006
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Variations for Lobar Holoprosencephaly

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ClinVar genetic disease variations for Lobar Holoprosencephaly:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 13 genes NC_000013.10:g.99162946_101376965del DEL Pathogenic
 1275753 GRCh37: 13:99162946-101376965
GRCh38:
2 FGFR1 NM_023110.3(FGFR1):c.749G>C (p.Arg250Pro) SNV Likely Pathogenic
 235084 rs121909645 GRCh37: 8:38282214-38282214
GRCh38: 8:38424696-38424696
3 DISP1 NM_001377229.1(DISP1):c.1657G>A (p.Glu553Lys) SNV Uncertain Significance
 235092 rs760562145 GRCh37: 1:223176396-223176396
GRCh38: 1:223003054-223003054
4 DISP1 NM_001377229.1(DISP1):c.1087A>G (p.Asn363Asp) SNV Uncertain Significance
 235091 rs876661336 GRCh37: 1:223175826-223175826
GRCh38: 1:223002484-223002484
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Expression for Lobar Holoprosencephaly

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Search GEO for disease gene expression data for Lobar Holoprosencephaly.
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Pathways for Lobar Holoprosencephaly

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

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Signal Transduction 66
13.52 TGIF1 SHH PTCH1 GLI2 GAS1 FOXH1
2
NF-KappaB Family Pathway 64
Show member pathways
 12.55 TDGF1 GAS1 FGFR1 FGF8
3
Signaling by Hedgehog 66
Show member pathways
 12.25 SHH PTCH1 GLI2 GAS1 CDON
4
Wnt / Hedgehog / Notch 3
11.98 DLL1 GLI2 PTCH1 SHH TDGF1
5
22q11.2 copy number variation syndrome 74
11.9 SHH FGFR1 FGF8
6
Mesodermal commitment pathway 74
11.9 ZIC2 NODAL FOXH1 FGFR1 FGF8 DLL1
7
Gastrulation 66
Show member pathways
 11.82 SHH FOXH1 FGFR1 DLL1
8
Neural crest differentiation 74
11.77 FGFR1 FGF8 DLL1
9
Neural Stem Cells and Lineage-specific Markers 65
11.65 SHH FGFR1 FGF8
10
G-protein signaling_RhoA regulation pathway 22
11.59 TDGF1 GAS1 FGFR1 FGF8
12
Pluripotent stem cell differentiation pathway 74
11.42 SHH NODAL FGF8
13
Heart development 74
11.4 SHH FOXH1 FGF8
14
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.3 SHH PTCH1 GLI2
15
Hedgehog signaling events mediated by Gli proteins 61
11.28 SHH PTCH1 GLI2
16
Signaling by NODAL 66
Show member pathways
 11.2 TDGF1 NODAL FOXH1
17
Hedgehog signaling pathway 74
11.18 SHH PTCH1 GLI2 GAS1 CDON
18
Dopaminergic neurogenesis 74
11.15 SHH GLI2 FGF8
19
Hair follicle development: organogenesis - part 2 of 3 74
11.03 GLI2 PTCH1 SHH
20
Kallmann syndrome 74
10.94 FGFR1 FGF8
21
Gene regulatory network modelling somitogenesis 74
Show member pathways
 10.92 FGF8 DLL1
22
Glypican 1 network 61
10.89 TDGF1 FGFR1
23
Signaling events mediated by the Hedgehog family 61
Show member pathways
 10.72 STIL SHH PTCH1 GLI2 GAS1 DISP1
24
EDA signaling in hair follicle development 74
10.63 SHH PTCH1
25
Glypican 3 network 61
10.47 PTCH1 SHH
26
Tgif disruption of Shh signaling 74
Show member pathways
 10.26 TGIF1 SHH NODAL FGF8
Sources

GO Terms for Lobar Holoprosencephaly

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.23 TDGF1 SHH NODAL GLI2 FGFR1 FGF8
2 in utero embryonic development GO:0001701 10.17 STIL PTCH1 NODAL GLI2
3 heart development GO:0007507 10.15 TDGF1 SHH NODAL GLI2 FGF8
4 positive regulation of neuron differentiation GO:0045666 10.1 GLI2 FGFR1 CDON
5 branching involved in ureteric bud morphogenesis GO:0001658 10.1 SHH PTCH1 FGF8
6 cell population proliferation GO:0008283 10.07 SHH NODAL GLI2 FGF8
7 negative regulation of neuron differentiation GO:0045665 10.06 SIX3 SHH DLL1
8 negative regulation of cell differentiation GO:0045596 10.05 DLL1 NODAL SHH
9 neuron differentiation GO:0030182 10.05 CDON DLL1 FGF8 GLI2 SHH
10 embryonic pattern specification GO:0009880 10.04 DISP1 NODAL SHH
11 pattern specification process GO:0007389 10.03 SHH PTCH1 GLI2
12 smooth muscle tissue development GO:0048745 10 SHH PTCH1
13 lung development GO:0030324 10 SHH NODAL GLI2 FGF8
14 prostate gland development GO:0030850 9.99 SHH PTCH1
15 neuroepithelial cell differentiation GO:0060563 9.99 FGF8 DLL1
16 positive regulation of epithelial cell proliferation GO:0050679 9.99 SHH NODAL GLI2
17 positive regulation of T cell differentiation in thymus GO:0033089 9.98 SHH GLI2
18 branching involved in salivary gland morphogenesis GO:0060445 9.98 FGF8 SHH
19 anatomical structure development GO:0048856 9.98 TDGF1 SHH GLI2
20 metanephric collecting duct development GO:0072205 9.97 SHH PTCH1
21 dorsal/ventral pattern formation GO:0009953 9.97 SHH PTCH1 GLI2 FGF8 DISP1
22 cell proliferation in forebrain GO:0021846 9.96 SIX3 FGF8
23 mammary gland development GO:0030879 9.96 GLI2 PTCH1 TDGF1
24 positive regulation of skeletal muscle tissue development GO:0048643 9.95 SHH CDON
25 cell fate commitment GO:0045165 9.95 SHH NODAL GAS1 FGF8
26 forebrain dorsal/ventral pattern formation GO:0021798 9.94 SIX3 FGF8
27 telencephalon regionalization GO:0021978 9.94 SIX3 SHH
28 developmental growth GO:0048589 9.93 SHH GLI2 GAS1
29 smoothened signaling pathway GO:0007224 9.93 CDON DISP1 GLI2 PTCH1 SHH STIL
30 inhibition of neuroepithelial cell differentiation GO:0002085 9.92 DLL1 NODAL
31 formation of anatomical boundary GO:0048859 9.91 SHH NODAL
32 stem cell proliferation GO:0072089 9.91 SHH PTCH1 GLI2 FGF8
33 spinal cord dorsal/ventral patterning GO:0021513 9.9 SHH GLI2
34 hindgut morphogenesis GO:0007442 9.89 SHH GLI2
35 spinal cord motor neuron differentiation GO:0021522 9.89 SHH PTCH1 GLI2
36 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.88 NODAL FOXH1
37 ventral midline development GO:0007418 9.88 SHH GLI2
38 anterior/posterior pattern specification GO:0009952 9.86 TDGF1 SHH NODAL GLI2 FOXH1 CDON
39 nodal signaling pathway GO:0038092 9.84 TDGF1 NODAL
40 epithelial cell proliferation GO:0050673 9.83 SHH PTCH1 GLI2
41 mammary gland duct morphogenesis GO:0060603 9.81 PTCH1 GLI2
42 dorsal/ventral neural tube patterning GO:0021904 9.8 GLI2 PTCH1 SHH
43 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.78 SHH GLI2
44 heart looping GO:0001947 9.73 STIL SHH NODAL FOXH1 FGF8 DLL1
45 anatomical structure formation involved in morphogenesis GO:0048646 9.61 SHH NODAL GLI2
46 determination of left/right symmetry GO:0007368 9.4 TDGF1 STIL SHH NODAL FOXH1 FGF8

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

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 9.26 SHH PTCH1
2 morphogen activity GO:0016015 8.92 SHH NODAL
Sources

Sources for Lobar Holoprosencephaly

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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