MCID: HLP001
MIFTS: 65

Holoprosencephaly

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

Aliases & Classifications for Holoprosencephaly

MalaCards integrated aliases for Holoprosencephaly:

Name: Holoprosencephaly 38 12 23 50 24 51 56 29 52 42 14
Holoprosencephaly Sequence 12 29
Hpe 50 56

Characteristics:

Orphanet epidemiological data:

56
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 : 51 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 2 and agnathia-otocephaly complex, and has symptoms including scoliosis, optic atrophy and dystonia. An important gene associated with Holoprosencephaly is ZIC2 (Zic Family Member 2), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. Affiliated tissues include Primitive Streak, brain and eye, and related phenotypes are growth/size/body region and behavior/neurological

NIH Rare Diseases : 50 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 2 Holoprosencephaly 9
Holoprosencephaly 6 Holoprosencephaly 3
Holoprosencephaly 7 Holoprosencephaly 11
Holoprosencephaly 5 Holoprosencephaly 8
Holoprosencephaly 4 Holoprosencephaly 1
Cdon-Related Holoprosencephaly Foxh1-Related Holoprosencephaly
Gli2-Related Holoprosencephaly Hpe6-Related Holoprosencephaly
Hpe8-Related Holoprosencephaly Nodal-Related Holoprosencephaly
Ptch1-Related Holoprosencephaly Shh-Related Holoprosencephaly
Six3-Related Holoprosencephaly Tgif1-Related Holoprosencephaly
Zic2-Related Holoprosencephaly Nonsyndromic Holoprosencephaly

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

(show top 50) (show all 175)
id Related Disease Score Top Affiliating Genes
1 holoprosencephaly 2 33.9 SHH SIX3
2 agnathia-otocephaly complex 31.9 FGF8 GLI2 NODAL SHH
3 neural tube defects 28.2 MNX1 PTCH1 ZIC1 ZIC2
4 hydrocephalus 22.6 CDON DHCR7 FGF8 FGFR1 GLI2 LRP2
5 holoprosencephaly 1 12.2
6 holoprosencephaly 3 12.2
7 nonsyndromic holoprosencephaly 12.1
8 holoprosencephaly 9 12.1
9 holoprosencephaly, semilobar, with craniosynostosis 12.1
10 holoprosencephaly 7 12.1
11 holoprosencephaly 11 12.1
12 holoprosencephaly 4 12.0
13 holoprosencephaly 5 12.0
14 semilobar holoprosencephaly 12.0
15 holoprosencephaly 6 12.0
16 holoprosencephaly 8 12.0
17 lobar holoprosencephaly 11.9
18 alobar holoprosencephaly 11.9
19 microform holoprosencephaly 11.9
20 septopreoptic holoprosencephaly 11.9
21 holoprosencephaly with fetal akinesia/hypokinesia sequence 11.8
22 holoprosencephaly caudal dysgenesis 11.8
23 midline interhemispheric variant of holoprosencephaly 11.8
24 hartsfield syndrome 11.8
25 holoprosencephaly, recurrent infections, and monocytosis 11.7
26 shh-related holoprosencephaly 11.7
27 gli2-related holoprosencephaly 11.7
28 nodal-related holoprosencephaly 11.7
29 ptch1-related holoprosencephaly 11.7
30 six3-related holoprosencephaly 11.7
31 tgif1-related holoprosencephaly 11.7
32 zic2-related holoprosencephaly 11.7
33 congenital nasal pyriform aperture stenosis with holoprosencephaly 11.7
34 cdon-related holoprosencephaly 11.7
35 hpe6-related holoprosencephaly 11.7
36 hpe8-related holoprosencephaly 11.6
37 holoprosencephaly ectrodactyly cleft lip palate 11.6
38 microcephaly, holoprosencephaly, and intrauterine growth retardation 11.6
39 foxh1-related holoprosencephaly 11.6
40 steinfeld syndrome 11.5
41 pseudotrisomy 13 syndrome 11.5
42 morse-rawnsley-sargent syndrome 11.3
43 dysgnathia complex 11.1
44 schizencephaly 11.0
45 corpus callosum agenesis 10.8
46 fas-related autoimmune lymphoproliferative syndrome 10.7 SHH SIX3
47 cerebellar agenesis 10.7
48 single median maxillary central incisor 10.7
49 mental retardation, x-linked syndromic, turner type 10.7
50 heterotaxy, visceral, 1, x-linked 10.7

Graphical network of the top 20 diseases related to Holoprosencephaly:



Diseases related to Holoprosencephaly

Symptoms & Phenotypes for Holoprosencephaly

Human phenotypes related to Holoprosencephaly:

56 32 (show top 50) (show all 95)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 dystonia 56 32 frequent (33%) Frequent (79-30%) HP:0001332
4 chorea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002072
5 spasticity 56 32 frequent (33%) Frequent (79-30%) HP:0001257
6 cognitive impairment 56 32 frequent (33%) Frequent (79-30%) HP:0100543
7 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
8 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
9 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
10 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
11 proteinuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000093
12 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
13 choanal atresia 56 32 frequent (33%) Frequent (79-30%) HP:0000453
14 microphthalmia 56 32 frequent (33%) Frequent (79-30%) HP:0000568
15 frontal bossing 56 32 occasional (7.5%) Occasional (29-5%) HP:0002007
16 anteverted nares 56 32 occasional (7.5%) Occasional (29-5%) HP:0000463
17 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
18 muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0001324
19 gastroesophageal reflux 56 32 frequent (33%) Frequent (79-30%) HP:0002020
20 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
21 iris coloboma 56 32 frequent (33%) Frequent (79-30%) HP:0000612
22 short neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000470
23 macrocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000256
24 hypoglycemia 56 32 frequent (33%) Frequent (79-30%) HP:0001943
25 hyponatremia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002902
26 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
27 tetralogy of fallot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001636
28 omphalocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0001539
29 deep philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0002002
30 constipation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002019
31 spinal dysraphism 56 32 occasional (7.5%) Occasional (29-5%) HP:0010301
32 synophrys 56 32 occasional (7.5%) Occasional (29-5%) HP:0000664
33 dandy-walker malformation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001305
34 arrhythmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011675
35 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
36 diabetes mellitus 56 32 frequent (33%) Frequent (79-30%) HP:0000819
37 intestinal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011100
38 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
39 hypotelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000601
40 holoprosencephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001360
41 broad philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000289
42 blepharophimosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000581
43 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
44 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
45 feeding difficulties in infancy 56 32 occasional (7.5%) Occasional (29-5%) HP:0008872
46 cyclopia 56 32 frequent (33%) Frequent (79-30%) HP:0009914
47 diabetes insipidus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000873
48 anophthalmia 56 32 frequent (33%) Frequent (79-30%) HP:0000528
49 anosmia 56 32 frequent (33%) Frequent (79-30%) HP:0000458
50 hyposmia 56 32 frequent (33%) Frequent (79-30%) HP:0004409

MGI Mouse Phenotypes related to Holoprosencephaly:

44 (show all 21)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 CDON DHCR7 FGF8 FGFR1 GLI2 LRP2
2 behavior/neurological MP:0005386 10.38 CDON DHCR7 FGF8 FGFR1 GLI2 LRP2
3 mortality/aging MP:0010768 10.37 CDON DHCR7 FGF8 FGFR1 GLI2 LRP2
4 craniofacial MP:0005382 10.35 DHCR7 FGF8 FGFR1 GLI2 LRP2 NODAL
5 digestive/alimentary MP:0005381 10.35 CDON DHCR7 FGF8 FGFR1 GLI2 LRP2
6 cardiovascular system MP:0005385 10.33 CDON DHCR7 FGF8 FGFR1 LRP2 MNX1
7 cellular MP:0005384 10.32 CDON FGF8 FGFR1 GLI2 LRP2 MNX1
8 embryo MP:0005380 10.3 SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1
9 nervous system MP:0003631 10.3 CDON DHCR7 FGF8 FGFR1 PTCH1 GLI2
10 homeostasis/metabolism MP:0005376 10.22 NODAL PTCH1 SHH TGIF1 DHCR7 FGF8
11 limbs/digits/tail MP:0005371 10.21 FGFR1 GLI2 LRP2 PTCH1 SHH TGIF1
12 muscle MP:0005369 10.13 FGFR1 GLI2 MNX1 NODAL PTCH1 SHH
13 normal MP:0002873 10.06 FGF8 FGFR1 GLI2 MNX1 NODAL PTCH1
14 hearing/vestibular/ear MP:0005377 10.01 FGF8 FGFR1 GLI2 LRP2 SHH TGIF1
15 respiratory system MP:0005388 10 DHCR7 FGF8 GLI2 LRP2 MNX1 NODAL
16 skeleton MP:0005390 9.97 NODAL PTCH1 SHH SIX3 TGIF1 ZIC1
17 reproductive system MP:0005389 9.92 FGF8 FGFR1 GLI2 LRP2 NODAL PTCH1
18 no phenotypic analysis MP:0003012 9.91 FGFR1 GLI2 LRP2 NODAL PTCH1 SHH
19 renal/urinary system MP:0005367 9.85 DHCR7 FGF8 FGFR1 LRP2 PTCH1 SHH
20 vision/eye MP:0005391 9.36 CDON FGF8 FGFR1 GLI2 LRP2 NODAL
21 taste/olfaction MP:0005394 9.26 SHH SIX3 TGIF1 NODAL

Drugs & Therapeutics for Holoprosencephaly

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Holoprosencephaly Sequence 29
2 Holoprosencephaly 29 24 ZIC2

Anatomical Context for Holoprosencephaly

MalaCards organs/tissues related to Holoprosencephaly:

39
Brain, Eye, Pituitary, Bone, Heart, Cerebellum, Lung
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Holoprosencephaly

Articles related to Holoprosencephaly:

(show top 50) (show all 629)
id Title Authors Year
1
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics. ( 28640243 )
2017
2
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. ( 28525974 )
2017
3
Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects. ( 28883880 )
2017
4
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. ( 28805615 )
2017
5
BOC is a modifier gene in holoprosencephaly. ( 28677295 )
2017
6
Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome. ( 28497274 )
2017
7
SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly. ( 28670735 )
2017
8
Ethanol itself is a holoprosencephaly-inducing teratogen. ( 28441416 )
2017
9
Prenatal diagnosis of monosomy 18p associated with holoprosencephaly: case report. ( 28513240 )
2017
10
Facial Evaluation in Holoprosencephaly. ( 27875510 )
2017
11
Trisomy 18 and holoprosencephaly. ( 28449414 )
2017
12
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. ( 26728615 )
2016
13
Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling. ( 27466203 )
2016
14
The middle interhemispheric variant of holoprosencephaly: magnetic resonance and diffusion tensor imaging findings. ( 27089898 )
2016
15
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. ( 27363716 )
2016
16
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing. ( 26748417 )
2016
17
Gli2 gene dosage and gene-environment interaction illuminate the etiological complexity of holoprosencephaly. ( 27585885 )
2016
18
Monozygotic twins with de novo ZIC2 gene mutations discordant for the type of holoprosencephaly. ( 26962069 )
2016
19
Impact of holoprosencephaly, exomphalos, megacystis and high NT in first trimester screening for chromosomal abnormalities. ( 27558969 )
2016
20
Holoprosencephaly and Pure Red Cell Aplasia in a Feline Leukaemia Virus-Positive Kitten. ( 26897097 )
2016
21
Holoprosencephaly: antenatal and postnatal diagnosis and outcome. ( 26767839 )
2016
22
Adult with Middle Interhemispheric Variant of Holoprosencephaly: Neuropsychological, Clinical, and Radiological Findings. ( 27235161 )
2016
23
Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report. ( 27998308 )
2016
24
Six3 dosage mediates the pathogenesis of holoprosencephaly. ( 27770010 )
2016
25
Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence. ( 28050387 )
2016
26
Case 236: Middle Interhemispheric Variant of Holoprosencephaly. ( 27870630 )
2016
27
Definition of critical periods for hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate. ( 25793997 )
2015
28
Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother. ( 26155468 )
2015
29
Absence of the lateral and third ventricles associated with holoprosencephaly. ( 26417484 )
2015
30
Middle Interhemispheric Variant of Holoprosencephaly - Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus. ( 26500966 )
2015
31
Proboscis Lateralis : A Rare Bilateral Case in Association with Holoprosencephaly. ( 26436002 )
2015
32
Early two-stage repair of clefts in holoprosencephaly. ( 25976037 )
2015
33
Semilobar Holoprosencephaly Associated with Multiple Malformations in a Foal. ( 25712180 )
2015
34
Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development. ( 26018729 )
2015
35
Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings. ( 25658757 )
2015
36
Ethical and legal dilemmas around termination of pregnancy for severe fetal anomalies: A review of two African neonates presenting with ventriculomegaly and holoprosencephaly. ( 26620620 )
2015
37
Correlation of bispectral index (BIS) monitoring and end-tidal sevoflurane concentration in a patient with lobar holoprosencephaly. ( 26323737 )
2015
38
Middle interhemispheric variant of holoprosencephaly: A rare midline malformation. ( 26557166 )
2015
39
Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly. ( 25569381 )
2015
40
A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype. ( 25820550 )
2015
41
Variant course of bilateral anterior cerebral artery in semilobar holoprosencephaly. ( 26027553 )
2015
42
In Utero MR Imaging of Fetal Holoprosencephaly: A Structured Approach to Diagnosis and Classification. ( 26564444 )
2015
43
ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS. ( 26625663 )
2015
44
Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate. ( 26495165 )
2015
45
Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice. ( 25468951 )
2015
46
Holoprosencephaly with agenesia of the prosencephalic ventricle. ( 26785373 )
2015
47
Prenatal findings of holoprosencephaly. ( 25620469 )
2015
48
Lip Repair Surgery for Bilateral Cleft Lip and Palate in a Patient Diagnosed with Trisomy 13 and Holoprosencephaly. ( 26150185 )
2015
49
Alobar holoprosencephaly, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome. ( 27086438 )
2015
50
Successful management of discordant alobar holoprosencephaly in monochorionic diamniotic twins with normal karyotype: a case report. ( 25864296 )
2015

Variations for Holoprosencephaly

Copy number variations for Holoprosencephaly from CNVD:

7 (show all 17)
id 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

GO Terms for Holoprosencephaly

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

(show top 50) (show all 65)
id Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.93 FGFR1 GLI2 NODAL PTCH1
2 regulation of cell proliferation GO:0042127 9.89 DHCR7 FGFR1 PTCH1 SHH SIX3
3 heart development GO:0007507 9.88 FGF8 GLI2 LRP2 NODAL SHH
4 kidney development GO:0001822 9.87 FGF8 GLI2 SHH
5 positive regulation of neuron differentiation GO:0045666 9.85 CDON FGFR1 GLI2
6 determination of left/right symmetry GO:0007368 9.83 FGF8 NODAL SHH
7 anterior/posterior pattern specification GO:0009952 9.83 CDON GLI2 NODAL SHH
8 inner ear morphogenesis GO:0042472 9.81 FGF8 FGFR1 ZIC1
9 heart looping GO:0001947 9.8 FGF8 NODAL SHH
10 cell fate commitment GO:0045165 9.79 FGF8 NODAL SHH
11 embryonic limb morphogenesis GO:0030326 9.79 FGFR1 PTCH1 SHH
12 embryonic pattern specification GO:0009880 9.74 NODAL SHH
13 branching involved in ureteric bud morphogenesis GO:0001658 9.74 FGF8 PTCH1 SHH
14 telencephalon development GO:0021537 9.73 FGF8 SIX3
15 thyroid gland development GO:0030878 9.73 FGF8 SHH
16 vasculature development GO:0001944 9.73 NODAL SHH
17 dopaminergic neuron differentiation GO:0071542 9.73 FGF8 SHH
18 limb morphogenesis GO:0035108 9.73 FGF8 PTCH1
19 dorsal/ventral pattern formation GO:0009953 9.73 GLI2 PTCH1 SHH
20 hindbrain development GO:0030902 9.72 GLI2 SHH
21 renal system development GO:0072001 9.72 PTCH1 SHH
22 lung morphogenesis GO:0060425 9.72 FGF8 SHH
23 embryonic heart tube development GO:0035050 9.72 FGF8 NODAL
24 male genitalia development GO:0030539 9.71 FGF8 SHH
25 positive regulation of protein import into nucleus GO:0042307 9.71 SHH ZIC1
26 pharyngeal system development GO:0060037 9.71 FGF8 PTCH1
27 osteoblast development GO:0002076 9.71 GLI2 SHH
28 cell fate specification GO:0001708 9.71 CDON SHH
29 regulation of smoothened signaling pathway GO:0008589 9.71 GLI2 PTCH1 ZIC1
30 somite development GO:0061053 9.7 PTCH1 SHH
31 anatomical structure development GO:0048856 9.7 GLI2 SHH
32 embryonic morphogenesis GO:0048598 9.7 CDON SHH
33 digestive tract morphogenesis GO:0048546 9.7 NODAL SHH
34 striated muscle cell differentiation GO:0051146 9.69 CDON SHH
35 generation of neurons GO:0048699 9.69 FGF8 FGFR1
36 spinal cord motor neuron differentiation GO:0021522 9.69 GLI2 PTCH1 SHH
37 cell proliferation in forebrain GO:0021846 9.68 FGF8 SIX3
38 organ induction GO:0001759 9.68 FGF8 FGFR1
39 lung-associated mesenchyme development GO:0060484 9.67 FGFR1 SHH
40 positive regulation of T cell differentiation in thymus GO:0033089 9.67 GLI2 SHH
41 smoothened signaling pathway GO:0007224 9.67 CDON GLI2 PTCH1 SHH
42 positive regulation of skeletal muscle tissue development GO:0048643 9.66 CDON SHH
43 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.65 GLI2 PTCH1
44 forebrain dorsal/ventral pattern formation GO:0021798 9.65 FGF8 SIX3
45 telencephalon regionalization GO:0021978 9.64 SHH SIX3
46 anatomical structure formation involved in morphogenesis GO:0048646 9.63 GLI2 NODAL SHH
47 mammary gland duct morphogenesis GO:0060603 9.62 GLI2 PTCH1
48 spinal cord dorsal/ventral patterning GO:0021513 9.61 GLI2 SHH
49 formation of anatomical boundary GO:0048859 9.59 NODAL SHH
50 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.58 GLI2 SHH

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.63 GLI2 MNX1 SIX3 TGIF1 ZIC1 ZIC2
2 patched binding GO:0005113 8.96 PTCH1 SHH
3 morphogen activity GO:0016015 8.62 NODAL SHH

Sources for Holoprosencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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