MCID: HLP001
MIFTS: 67

Holoprosencephaly

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

Aliases & Classifications for Holoprosencephaly

MalaCards integrated aliases for Holoprosencephaly:

Name: Holoprosencephaly 37 12 72 23 49 50 55 36 28 51 41 14
Holoprosencephaly Sequence 12 28
Hpe 49 55

Characteristics:

Orphanet epidemiological data:

55
holoprosencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:



Summaries for Holoprosencephaly

NINDS : 50 Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose, and upper lip. There are three classifications of holoprosencephaly. Alobar, in which the brain has not divided at all, is usually associated with severe facial deformities. Semilobar, in which the brain's hemispheres have somewhat divided, causes an intermediate form of the disorder. Lobar, in which there is considerable evidence of separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly the baby's brain may be nearly normal. The least severe of the facial anomalies is the median cleft lip (premaxillary agenesis). The most severe is cyclopia, an abnormality characterized by a single eye located in the area normally occupied by the root of the nose, and a missing nose or a proboscis (a tubular-shaped nose) located above the eye. The least common facial anomaly is ethmocephaly, in which a proboscis separates closely-set eyes. Cebocephaly, another facial anomaly, is characterized by a small, flattened nose with a single nostril situated below incomplete or underdeveloped closely-set eyes.

MalaCards based summary : Holoprosencephaly, also known as holoprosencephaly sequence, is related to holoprosencephaly 1 and holoprosencephaly 7, and has symptoms including cryptorchidism, proteinuria and hydrocephalus. An important gene associated with Holoprosencephaly is NODAL (Nodal Growth Differentiation Factor), and among its related pathways/superpathways are Hedgehog signaling pathway and Pathways in cancer. Affiliated tissues include Primitive Streak, brain and eye, and related phenotypes are growth/size/body region and mortality/aging

NIH Rare Diseases : 49 Holoprosencephaly is an abnormality of brain development in which the brain doesn't properly divide into the right and left hemispheres. The condition can also affect development of the head and face. There are 4 types of holoprosencephaly, distinguished by severity. From most to least severe, the 4 types are alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In general, the severity of any facial defects corresponds to the severity of the brain defect. The most severely affected people have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. In the less severe forms, the brain is only partially divided, and the eyes usually are set close together. Other signs and symptoms often include intellectual disability and pituitary gland problems. Holoprosencephaly can be caused by mutations in any of at least 14 different genes; chromosome abnormalities; or agents that can cause birth defects (teratogens). It may also be a feature of several unique genetic syndromes. In many cases, the exact cause is unknown. Life expectancy for people with this condition varies, and treatment depends on the symptoms and severity in each person. Last updated: 5/10/2016

Disease Ontology : 12 A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.

Wikipedia : 72 Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo)... more...

GeneReviews: NBK1530

Related Diseases for Holoprosencephaly

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 191)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 1 34.1 HPE1 LSS SHH SIX3
2 holoprosencephaly 7 34.0 NODAL PTCH1
3 holoprosencephaly 8 34.0 HPE8 TGIF1
4 holoprosencephaly 5 33.9 TGIF1 ZIC1 ZIC2
5 holoprosencephaly 4 33.8 SHH TGIF1 ZIC1 ZIC2
6 holoprosencephaly, recurrent infections, and monocytosis 33.8 GLI2 PTCH1 SIX3
7 hartsfield syndrome 33.4 FGF8 FGFR1
8 agnathia-otocephaly complex 33.0 FGF8 GLI2 NODAL SHH
9 midline interhemispheric variant of holoprosencephaly 32.5 CDON FGF8 FOXH1 GLI2 NODAL PTCH1
10 alobar holoprosencephaly 32.5 CDON FGF8 FOXH1 GLI2 NODAL PTCH1
11 semilobar holoprosencephaly 32.4 CDON FGF8 FGFR1 FOXH1 GLI2 NODAL
12 septopreoptic holoprosencephaly 32.4 CDON FGF8 FOXH1 GLI2 NODAL PTCH1
13 lobar holoprosencephaly 32.3 CDON FGF8 FGFR1 FOXH1 GLI2 NODAL
14 microform holoprosencephaly 32.3 CDON FGF8 FGFR1 FOXH1 GLI2 NODAL
15 pituitary stalk interruption syndrome 30.2 CDON SHH TGIF1
16 chromosome 18p deletion syndrome 30.0 NODAL SHH SIX3 ZIC2
17 orofacial cleft 29.7 FGF8 FGFR1 NODAL SHH
18 neural tube defects 29.3 MNX1 PTCH1 ZIC1 ZIC2
19 holoprosencephaly 3 12.3
20 nonsyndromic holoprosencephaly 12.3
21 holoprosencephaly, semilobar, with craniosynostosis 12.3
22 holoprosencephaly 2 12.3
23 holoprosencephaly 9 12.3
24 holoprosencephaly 11 12.2
25 holoprosencephaly 6 12.1
26 brachial amelia, cleft lip, and holoprosencephaly 12.0
27 holoprosencephaly with fetal akinesia/hypokinesia sequence 12.0
28 holoprosencephaly caudal dysgenesis 11.9
29 congenital nasal pyriform aperture stenosis with holoprosencephaly 11.8
30 holoprosencephaly ectrodactyly cleft lip palate 11.8
31 pseudotrisomy 13 syndrome 11.7
32 steinfeld syndrome 11.7
33 morse-rawnsley-sargent syndrome 11.4
34 lambotte syndrome 11.2
35 dysgnathia complex 11.2
36 schizencephaly 11.1
37 solitary median maxillary central incisor 11.1
38 chromosome 1q41-q42 deletion syndrome 11.0
39 corpus callosum, agenesis of 11.0
40 heterotaxy, visceral, 1, x-linked 10.8
41 hypoglossia with situs inversus 10.8
42 syndromic x-linked intellectual disability turner type 10.8
43 cerebellar agenesis 10.8
44 x-linked intellectual disability, turner type 10.8
45 acquired schizencephaly 10.6 SHH SIX3
46 calcifying epithelial odontogenic tumor 10.5 GLI2 PTCH1
47 bardet-biedl syndrome 17 10.5 GLI2 PTCH1 SHH
48 infratentorial cancer 10.5 GLI2 PTCH1 SHH
49 integumentary system cancer 10.5 GLI2 PTCH1 SHH
50 patau syndrome 10.5 NODAL SIX3 ZIC2

Graphical network of the top 20 diseases related to Holoprosencephaly:



Diseases related to Holoprosencephaly

Symptoms & Phenotypes for Holoprosencephaly

Human phenotypes related to Holoprosencephaly:

55 31 (show top 50) (show all 95)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
2 proteinuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000093
3 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
4 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
5 macrocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000256
6 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
7 broad philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000289
8 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
9 macrotia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000400
10 depressed nasal tip 55 31 occasional (7.5%) Occasional (29-5%) HP:0000437
11 choanal atresia 55 31 frequent (33%) Frequent (79-30%) HP:0000453
12 depressed nasal ridge 55 31 frequent (33%) Frequent (79-30%) HP:0000457
13 anosmia 55 31 frequent (33%) Frequent (79-30%) HP:0000458
14 anteverted nares 55 31 occasional (7.5%) Occasional (29-5%) HP:0000463
15 short neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000470
16 retinopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000488
17 deeply set eye 55 31 occasional (7.5%) Occasional (29-5%) HP:0000490
18 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
19 anophthalmia 55 31 frequent (33%) Frequent (79-30%) HP:0000528
20 chorioretinal coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000567
21 microphthalmia 55 31 frequent (33%) Frequent (79-30%) HP:0000568
22 thick eyebrow 55 31 occasional (7.5%) Occasional (29-5%) HP:0000574
23 blepharophimosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000581
24 upslanted palpebral fissure 55 31 occasional (7.5%) Occasional (29-5%) HP:0000582
25 hypotelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000601
26 iris coloboma 55 31 frequent (33%) Frequent (79-30%) HP:0000612
27 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
28 synophrys 55 31 occasional (7.5%) Occasional (29-5%) HP:0000664
29 congenital diaphragmatic hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000776
30 diabetes mellitus 55 31 frequent (33%) Frequent (79-30%) HP:0000819
31 panhypopituitarism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000871
32 diabetes insipidus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000873
33 brachydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001156
34 hand polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001161
35 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
36 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
37 spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0001257
38 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
39 dandy-walker malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001305
40 muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0001324
41 dystonia 55 31 frequent (33%) Frequent (79-30%) HP:0001332
42 holoprosencephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001360
43 failure to thrive in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001531
44 omphalocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0001539
45 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
46 tetralogy of fallot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001636
47 abnormal aortic morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0001679
48 abnormality of the spleen 55 31 occasional (7.5%) Occasional (29-5%) HP:0001743
49 talipes 55 31 occasional (7.5%) Occasional (29-5%) HP:0001883
50 hypoglycemia 55 31 frequent (33%) Frequent (79-30%) HP:0001943

MGI Mouse Phenotypes related to Holoprosencephaly:

43 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 ZIC2 CDON DHCR7 FGF8 FGFR1 FOXH1
2 mortality/aging MP:0010768 10.38 CDON DHCR7 FGF8 FGFR1 FOXH1 GLI2
3 craniofacial MP:0005382 10.37 CDON DHCR7 FGF8 FGFR1 FOXH1 GLI2
4 behavior/neurological MP:0005386 10.36 ZIC2 CDON DHCR7 FGF8 FGFR1 GLI2
5 digestive/alimentary MP:0005381 10.36 CDON DHCR7 FGF8 FGFR1 FOXH1 GLI2
6 cardiovascular system MP:0005385 10.35 TGIF1 ZIC2 CDON DHCR7 FGF8 FGFR1
7 cellular MP:0005384 10.31 CDON FGF8 FGFR1 GLI2 LRP2 MNX1
8 embryo MP:0005380 10.31 PTCH1 SHH SIX3 TGIF1 ZIC2 CDON
9 nervous system MP:0003631 10.31 CDON DHCR7 FGF8 FGFR1 FOXH1 GLI2
10 limbs/digits/tail MP:0005371 10.19 CDON DHCR7 FGF8 FGFR1 GLI2 LRP2
11 muscle MP:0005369 10.16 DHCR7 FGF8 FGFR1 FOXH1 GLI2 MNX1
12 hearing/vestibular/ear MP:0005377 10.11 FGF8 FGFR1 FOXH1 GLI2 LRP2 PTCH1
13 normal MP:0002873 10.07 FGF8 FGFR1 FOXH1 GLI2 MNX1 NODAL
14 respiratory system MP:0005388 10.03 MNX1 NODAL PTCH1 SHH SIX3 TGIF1
15 skeleton MP:0005390 10 CDON FGF8 FGFR1 FOXH1 GLI2 LRP2
16 no phenotypic analysis MP:0003012 9.95 FGFR1 FOXH1 GLI2 LRP2 NODAL PTCH1
17 renal/urinary system MP:0005367 9.87 DHCR7 FGF8 FGFR1 FOXH1 LRP2 PTCH1
18 vision/eye MP:0005391 9.44 CDON FGF8 FGFR1 FOXH1 GLI2 LRP2
19 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1

Drugs & Therapeutics for Holoprosencephaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly Completed NCT00005016
2 Genetic Analysis of Left-Right Axis Formations Completed NCT00341133
3 Clinical and Genetic Studies on Holoprosencephaly Recruiting NCT00088426
4 A Study of the Genetic Analysis of Brain Disorders Recruiting NCT00645645

Search NIH Clinical Center for Holoprosencephaly

Cochrane evidence based reviews: holoprosencephaly

Genetic Tests for Holoprosencephaly

Genetic tests related to Holoprosencephaly:

# Genetic test Affiliating Genes
1 Holoprosencephaly Sequence 28 FOXH1 NODAL
2 Holoprosencephaly 28

Anatomical Context for Holoprosencephaly

MalaCards organs/tissues related to Holoprosencephaly:

38
Brain, Eye, Pituitary, Bone, Cerebellum, Heart, Lung
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Holoprosencephaly:
# Tissue Anatomical CompartmentCell Relevance
1 Primitive Streak Primitive Streak Affected by disease

Publications for Holoprosencephaly

Articles related to Holoprosencephaly:

(show top 50) (show all 638)
# Title Authors Year
1
Structural insights into the impact of two holoprosencephaly-related mutations on human TGIF1 homeodomain. ( 29355528 )
2018
2
50 Years Ago in The Journal of Pediatrics: Familial Holoprosencephaly with Endocrine Dysgenesis. ( 29246365 )
2018
3
Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. ( 29333838 )
2018
4
ZIC2 in Holoprosencephaly. ( 29442327 )
2018
5
Link between the causative genes of holoprosencephaly: Zic2 directly regulates Tgif1 expression. ( 29391420 )
2018
6
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics. ( 28640243 )
2017
7
Holoprosencephaly. ( 29259929 )
2017
8
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. ( 28525974 )
2017
9
Prenatal diagnosis of monosomy 18p associated with holoprosencephaly: case report. ( 28513240 )
2017
10
SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly. ( 28670735 )
2017
11
Ethanol itself is a holoprosencephaly-inducing teratogen. ( 28441416 )
2017
12
BOC is a modifier gene in holoprosencephaly. ( 28677295 )
2017
13
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. ( 28805615 )
2017
14
Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome. ( 28497274 )
2017
15
Trisomy 18 and holoprosencephaly. ( 28449414 )
2017
16
"Minimal" holoprosencephaly in a 14q deletion syndrome patient. ( 29136354 )
2017
17
Facial Evaluation in Holoprosencephaly. ( 27875510 )
2017
18
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. ( 29278735 )
2017
19
Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects. ( 28883880 )
2017
20
Gli2 gene dosage and gene-environment interaction illuminate the etiological complexity of holoprosencephaly. ( 27585885 )
2016
21
The middle interhemispheric variant of holoprosencephaly: magnetic resonance and diffusion tensor imaging findings. ( 27089898 )
2016
22
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. ( 26728615 )
2016
23
Case 236: Middle Interhemispheric Variant of Holoprosencephaly. ( 27870630 )
2016
24
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. ( 27363716 )
2016
25
Impact of holoprosencephaly, exomphalos, megacystis and high NT in first trimester screening for chromosomal abnormalities. ( 27558969 )
2016
26
Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report. ( 27998308 )
2016
27
Six3 dosage mediates the pathogenesis of holoprosencephaly. ( 27770010 )
2016
28
Holoprosencephaly: antenatal and postnatal diagnosis and outcome. ( 26767839 )
2016
29
Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling. ( 27466203 )
2016
30
Monozygotic twins with de novo ZIC2 gene mutations discordant for the type of holoprosencephaly. ( 26962069 )
2016
31
Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence. ( 28050387 )
2016
32
Adult with Middle Interhemispheric Variant of Holoprosencephaly: Neuropsychological, Clinical, and Radiological Findings. ( 27235161 )
2016
33
Holoprosencephaly and Pure Red Cell Aplasia in a Feline Leukaemia Virus-Positive Kitten. ( 26897097 )
2016
34
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing. ( 26748417 )
2016
35
Proboscis Lateralis : A Rare Bilateral Case in Association with Holoprosencephaly. ( 26436002 )
2015
36
Early two-stage repair of clefts in holoprosencephaly. ( 25976037 )
2015
37
Lip Repair Surgery for Bilateral Cleft Lip and Palate in a Patient Diagnosed with Trisomy 13 and Holoprosencephaly. ( 26150185 )
2015
38
Semilobar Holoprosencephaly Associated with Multiple Malformations in a Foal. ( 25712180 )
2015
39
Successful management of discordant alobar holoprosencephaly in monochorionic diamniotic twins with normal karyotype: a case report. ( 25864296 )
2015
40
Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly. ( 25569381 )
2015
41
Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate. ( 26495165 )
2015
42
Middle interhemispheric variant of holoprosencephaly: A rare midline malformation. ( 26557166 )
2015
43
Absence of the lateral and third ventricles associated with holoprosencephaly. ( 26417484 )
2015
44
Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development. ( 26018729 )
2015
45
ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS. ( 26625663 )
2015
46
The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18. ( 26278930 )
2015
47
A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype. ( 25820550 )
2015
48
Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice. ( 25468951 )
2015
49
Correlation of bispectral index (BIS) monitoring and end-tidal sevoflurane concentration in a patient with lobar holoprosencephaly. ( 26323737 )
2015
50
Prenatal findings of holoprosencephaly. ( 25620469 )
2015

Variations for Holoprosencephaly

Copy number variations for Holoprosencephaly from CNVD:

7 (show all 17)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 27741 1 212100000 222100000 Deletion DISP1 Holoprosencephaly
2 27742 10 53744046 53747423 Deletion DKK1 Holoprosencephaly
3 27743 2 121271336 121449155 Deletion GLI2 Holoprosencephaly
4 27745 1 212100000 222100000 Deletion PATCHED Holoprosencephaly
5 27746 7 155285496 155297728 Deletion SHH Holoprosencephaly
6 27747 1 212100000 222100000 Deletion SIL Holoprosencephaly
7 27748 2 45022540 45025894 Deletion SIX3 Holoprosencephaly
8 27749 1 212100000 222100000 Deletion SMOOTHENED Holoprosencephaly
9 27750 1 212100000 222100000 Deletion TGIF Holoprosencephaly
10 27751 13 99432319 99437020 Deletion ZIC2 Holoprosencephaly
11 80937 13 99432319 99437020 Microdeletion ZIC2 Holoprosencephaly
12 91539 15 31400000 37900000 Deletion Holoprosencephaly
13 93580 15 55800000 65300000 Deletion Holoprosencephaly
14 120908 18 3402071 3448406 Microdeletion TGIF Holoprosencephaly
15 146030 2 45022540 45025894 Microdeletion SIX3 Holoprosencephaly
16 210238 6 29900000 45200000 Gain Holoprosencephaly
17 222729 7 155285496 155297728 Microdeletion SHH Holoprosencephaly

Expression for Holoprosencephaly

Search GEO for disease gene expression data for Holoprosencephaly.

Pathways for Holoprosencephaly

Pathways related to Holoprosencephaly according to KEGG:

36
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Holoprosencephaly

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

(show top 50) (show all 59)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.97 FGFR1 GLI2 NODAL PTCH1
2 regulation of cell proliferation GO:0042127 9.95 DHCR7 FGFR1 PTCH1 SHH SIX3
3 heart development GO:0007507 9.93 FGF8 GLI2 LRP2 NODAL SHH
4 kidney development GO:0001822 9.89 FGF8 GLI2 SHH
5 positive regulation of neuron differentiation GO:0045666 9.86 CDON FGFR1 GLI2
6 inner ear morphogenesis GO:0042472 9.84 FGF8 FGFR1 ZIC1
7 cell fate commitment GO:0045165 9.82 FGF8 NODAL SHH
8 embryonic limb morphogenesis GO:0030326 9.81 FGFR1 PTCH1 SHH
9 branching involved in ureteric bud morphogenesis GO:0001658 9.79 FGF8 PTCH1 SHH
10 determination of left/right symmetry GO:0007368 9.78 FGF8 FOXH1 NODAL SHH
11 dorsal/ventral pattern formation GO:0009953 9.77 GLI2 PTCH1 SHH
12 smoothened signaling pathway GO:0007224 9.73 CDON GLI2 PTCH1 SHH
13 male genitalia development GO:0030539 9.72 FGF8 SHH
14 positive regulation of protein import into nucleus GO:0042307 9.72 SHH ZIC1
15 pharyngeal system development GO:0060037 9.72 FGF8 PTCH1
16 osteoblast development GO:0002076 9.72 GLI2 SHH
17 cell fate specification GO:0001708 9.72 CDON SHH
18 somite development GO:0061053 9.71 PTCH1 SHH
19 anatomical structure development GO:0048856 9.71 GLI2 SHH
20 embryonic morphogenesis GO:0048598 9.71 CDON SHH
21 digestive tract morphogenesis GO:0048546 9.7 NODAL SHH
22 aorta morphogenesis GO:0035909 9.7 FGF8 FOXH1
23 striated muscle cell differentiation GO:0051146 9.7 CDON SHH
24 regulation of smoothened signaling pathway GO:0008589 9.7 GLI2 PTCH1 ZIC1
25 generation of neurons GO:0048699 9.69 FGF8 FGFR1
26 negative regulation of androgen receptor signaling pathway GO:0060766 9.69 FOXH1 NODAL
27 cell proliferation in forebrain GO:0021846 9.69 FGF8 SIX3
28 spinal cord motor neuron differentiation GO:0021522 9.69 GLI2 PTCH1 SHH
29 organ induction GO:0001759 9.68 FGF8 FGFR1
30 secondary heart field specification GO:0003139 9.68 FOXH1 LRP2
31 positive regulation of T cell differentiation in thymus GO:0033089 9.68 GLI2 SHH
32 positive regulation of skeletal muscle tissue development GO:0048643 9.67 CDON SHH
33 lung-associated mesenchyme development GO:0060484 9.67 FGFR1 SHH
34 anatomical structure formation involved in morphogenesis GO:0048646 9.67 GLI2 NODAL SHH
35 heart looping GO:0001947 9.67 FGF8 FOXH1 NODAL SHH
36 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.65 GLI2 PTCH1
37 forebrain dorsal/ventral pattern formation GO:0021798 9.65 FGF8 SIX3
38 telencephalon regionalization GO:0021978 9.65 SHH SIX3
39 mammary gland duct morphogenesis GO:0060603 9.63 GLI2 PTCH1
40 spinal cord dorsal/ventral patterning GO:0021513 9.63 GLI2 SHH
41 prostate gland development GO:0030850 9.63 GLI2 PTCH1 SHH
42 brain development GO:0007420 9.63 FGFR1 NODAL PTCH1 SIX3 ZIC1 ZIC2
43 pattern specification process GO:0007389 9.62 GLI2 PTCH1 SHH ZIC1
44 formation of anatomical boundary GO:0048859 9.61 NODAL SHH
45 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.61 GLI2 SHH
46 hindgut morphogenesis GO:0007442 9.6 GLI2 SHH
47 ventral midline development GO:0007418 9.58 GLI2 SHH
48 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.58 FOXH1 NODAL
49 dorsal/ventral neural tube patterning GO:0021904 9.58 GLI2 PTCH1 SHH
50 branching involved in salivary gland morphogenesis GO:0060445 9.43 FGF8 FGFR1 SHH

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

# Name GO ID Score Top Affiliating Genes
1 co-SMAD binding GO:0070410 9.26 FOXH1 TGIF1
2 DNA binding transcription factor activity GO:0003700 9.17 FOXH1 GLI2 MNX1 SIX3 TGIF1 ZIC1
3 patched binding GO:0005113 9.16 PTCH1 SHH
4 morphogen activity GO:0016015 8.96 NODAL SHH

Sources for Holoprosencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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