HPE
MCID: HLP001
MIFTS: 63

Holoprosencephaly (HPE) malady

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

Aliases & Classifications for Holoprosencephaly

Aliases & Descriptions 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;

HPO:

32
holoprosencephaly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:4621
ICD10 33 Q04.2
MeSH 42 D016142
NCIt 47 C74988
SNOMED-CT 64 30915001 44519006
Orphanet 56 ORPHA2162
MESH via Orphanet 43 D016142
UMLS via Orphanet 70 C0079541
ICD10 via Orphanet 34 Q04.2
UMLS 69 C0079541

Summaries for Holoprosencephaly

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

MalaCards based summary : Holoprosencephaly, also known as holoprosencephaly sequence, is related to nonsyndromic holoprosencephaly and holoprosencephaly, semilobar, with craniosynostosis, and has symptoms including constipation, seizures and muscle weakness. An important gene associated with Holoprosencephaly is ZIC2 (Zic Family Member 2), and among its related pathways/superpathways are Pathways in cancer and Mesodermal Commitment Pathway. Affiliated tissues include Primitive Streak, brain and eye, and related phenotypes are growth/size/body region and behavior/neurological

NINDS : 51 Holoprosencephaly is a disorder caused by the failure of the  (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.

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 : 71 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-3 Holoprosencephaly-7
Holoprosencephaly 11 Holoprosencephaly-5
Holoprosencephaly-4 Holoprosencephaly 6
Holoprosencephaly 8 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 176)
id Related Disease Score Top Affiliating Genes
1 nonsyndromic holoprosencephaly 12.2
2 holoprosencephaly, semilobar, with craniosynostosis 12.1
3 holoprosencephaly 11 12.1
4 holoprosencephaly 1 12.0
5 semilobar holoprosencephaly 12.0
6 holoprosencephaly 6 12.0
7 holoprosencephaly 8 12.0
8 lobar holoprosencephaly 11.9
9 alobar holoprosencephaly 11.9
10 septopreoptic holoprosencephaly 11.9
11 holoprosencephaly with fetal akinesia/hypokinesia sequence 11.8
12 holoprosencephaly caudal dysgenesis 11.8
13 midline interhemispheric variant of holoprosencephaly 11.8
14 hartsfield syndrome 11.8
15 holoprosencephaly, recurrent infections, and monocytosis 11.7
16 gli2-related holoprosencephaly 11.7
17 shh-related holoprosencephaly 11.7
18 zic2-related holoprosencephaly 11.7
19 cdon-related holoprosencephaly 11.7
20 hpe6-related holoprosencephaly 11.7
21 ptch1-related holoprosencephaly 11.7
22 six3-related holoprosencephaly 11.7
23 tgif1-related holoprosencephaly 11.7
24 holoprosencephaly-9 11.7
25 congenital nasal pyriform aperture stenosis with holoprosencephaly 11.7
26 hpe8-related holoprosencephaly 11.7
27 nodal-related holoprosencephaly 11.7
28 holoprosencephaly ectrodactyly cleft lip palate 11.6
29 microcephaly, holoprosencephaly, and intrauterine growth retardation 11.6
30 foxh1-related holoprosencephaly 11.6
31 holoprosencephaly-3 11.6
32 holoprosencephaly-7 11.6
33 agnathia-otocephaly complex 11.6
34 holoprosencephaly-2 11.6
35 holoprosencephaly-4 11.6
36 holoprosencephaly-5 11.5
37 pseudotrisomy 13 syndrome 11.1
38 steinfeld syndrome 11.1
39 dysgnathia complex 11.1
40 schizencephaly 11.1
41 single median maxillary central incisor 11.0
42 corpus callosum agenesis 10.9
43 heterotaxy, visceral, 1, x-linked 10.7
44 hypoglossia with situs inversus hypoglossia, isolated, included 10.7
45 cerebellar agenesis 10.7
46 mental retardation, x-linked syndromic, turner type 10.7
47 chromosome 1q41-q42 deletion syndrome 10.6
48 morse-rawnsley-sargent syndrome 10.6
49 fga-related congenital afibrinogenemia 10.3 SHH SIX3
50 anosmia, isolated congenital 10.2 SHH TGIF1

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 98)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Occasional (29-5%) HP:0002019
2 seizures 56 32 Frequent (79-30%) HP:0001250
3 muscle weakness 56 32 Frequent (79-30%) HP:0001324
4 dystonia 56 32 Frequent (79-30%) HP:0001332
5 anosmia 56 32 Frequent (79-30%) HP:0000458
6 hyposmia 56 32 Frequent (79-30%) HP:0004409
7 macrocephaly 56 32 Occasional (29-5%) HP:0000256
8 hypertelorism 56 32 Occasional (29-5%) HP:0000316
9 short neck 56 32 Occasional (29-5%) HP:0000470
10 frontal bossing 56 32 Occasional (29-5%) HP:0002007
11 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
12 ptosis 56 32 Occasional (29-5%) HP:0000508
13 diabetes mellitus 56 32 Frequent (79-30%) HP:0000819
14 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
15 spasticity 56 32 Frequent (79-30%) HP:0001257
16 chorea 56 32 Occasional (29-5%) HP:0002072
17 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
18 scoliosis 56 32 Occasional (29-5%) HP:0002650
19 macrotia 56 32 Occasional (29-5%) HP:0000400
20 global developmental delay 56 32 Frequent (79-30%) HP:0001263
21 abnormal facial shape 56 32 Very frequent (99-80%) HP:0001999
22 microcephaly 56 32 Frequent (79-30%) HP:0000252
23 anteverted nares 56 32 Occasional (29-5%) HP:0000463
24 thick eyebrow 56 32 Occasional (29-5%) HP:0000574
25 optic atrophy 56 32 Occasional (29-5%) HP:0000648
26 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
27 feeding difficulties in infancy 56 32 Occasional (29-5%) HP:0008872
28 cognitive impairment 56 32 Frequent (79-30%) HP:0100543
29 proteinuria 56 32 Occasional (29-5%) HP:0000093
30 retinopathy 56 32 Occasional (29-5%) HP:0000488
31 arrhythmia 56 32 Occasional (29-5%) HP:0011675
32 hypoglycemia 56 32 Frequent (79-30%) HP:0001943
33 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
34 epicanthus 56 32 Occasional (29-5%) HP:0000286
35 abnormal form of the vertebral bodies 56 32 Occasional (29-5%) HP:0003312
36 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
37 abnormality of neuronal migration 56 32 Occasional (29-5%) HP:0002269
38 aplasia/hypoplasia of the cerebellum 56 32 Occasional (29-5%) HP:0007360
39 chorioretinal coloboma 56 32 Occasional (29-5%) HP:0000567
40 depressed nasal ridge 56 32 Frequent (79-30%) HP:0000457
41 microphthalmia 56 32 Frequent (79-30%) HP:0000568
42 deeply set eye 56 32 Occasional (29-5%) HP:0000490
43 diabetes insipidus 56 32 Occasional (29-5%) HP:0000873
44 abnormality of the antihelix 56 32 Occasional (29-5%) HP:0009738
45 upslanted palpebral fissure 56 32 Occasional (29-5%) HP:0000582
46 brachydactyly syndrome 56 32 Occasional (29-5%) HP:0001156
47 tetralogy of fallot 56 32 Occasional (29-5%) HP:0001636
48 abnormality of the pulmonary valve 56 32 Occasional (29-5%) HP:0001641
49 choanal atresia 56 32 Frequent (79-30%) HP:0000453
50 hand polydactyly 56 32 Occasional (29-5%) HP:0001161

MGI Mouse Phenotypes related to Holoprosencephaly:

44 (show all 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.37 CDON DHCR7 FGF8 GAS1 GLI2 LRP2
2 behavior/neurological MP:0005386 10.36 ZIC2 CDON DHCR7 FGF8 GAS1 GLI2
3 craniofacial MP:0005382 10.34 SHH SIX3 TGIF1 ZIC2 CDON DHCR7
4 mortality/aging MP:0010768 10.33 CDON DHCR7 FGF8 GAS1 GLI2 LRP2
5 cardiovascular system MP:0005385 10.32 CDON DHCR7 FGF8 GAS1 LRP2 MNX1
6 cellular MP:0005384 10.31 CDON FGF8 GAS1 GLI2 LRP2 MNX1
7 digestive/alimentary MP:0005381 10.29 CDON DHCR7 FGF8 GLI2 LRP2 MNX1
8 embryo MP:0005380 10.28 CDON FGF8 GAS1 GLI2 LRP2 NODAL
9 nervous system MP:0003631 10.25 CDON DHCR7 FGF8 GAS1 GLI2 LRP2
10 homeostasis/metabolism MP:0005376 10.24 DHCR7 FGF8 GAS1 GLI2 LRP2 LSS
11 limbs/digits/tail MP:0005371 10.18 SHH TGIF1 ZIC2 CDON DHCR7 FGF8
12 muscle MP:0005369 10.03 SHH ZIC1 DHCR7 FGF8 GLI2 MNX1
13 respiratory system MP:0005388 10.03 CDON DHCR7 FGF8 GAS1 GLI2 LRP2
14 hearing/vestibular/ear MP:0005377 9.99 FGF8 GAS1 GLI2 LRP2 SHH TGIF1
15 normal MP:0002873 9.97 SHH TGIF1 ZIC2 FGF8 GLI2 MNX1
16 skeleton MP:0005390 9.97 ZIC2 CDON FGF8 GAS1 GLI2 LRP2
17 reproductive system MP:0005389 9.87 FGF8 GLI2 LRP2 NODAL PTCH1 SHH
18 vision/eye MP:0005391 9.36 CDON FGF8 GAS1 GLI2 LRP2 NODAL
19 taste/olfaction MP:0005394 9.26 NODAL SHH SIX3 TGIF1

Drugs & Therapeutics for Holoprosencephaly

Interventional clinical trials:


id Name Status NCT ID Phase
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 624)
id Title Authors Year
1
Ethanol itself is a holoprosencephaly-inducing teratogen. ( 28441416 )
2017
2
Trisomy 18 and holoprosencephaly. ( 28449414 )
2017
3
Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome. ( 28497274 )
2017
4
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. ( 28525974 )
2017
5
Prenatal diagnosis of monosomy 18p associated with holoprosencephaly: case report. ( 28513240 )
2017
6
Facial Evaluation in Holoprosencephaly. ( 27875510 )
2017
7
The middle interhemispheric variant of holoprosencephaly: magnetic resonance and diffusion tensor imaging findings. ( 27089898 )
2016
8
Adult with Middle Interhemispheric Variant of Holoprosencephaly: Neuropsychological, Clinical, and Radiological Findings. ( 27235161 )
2016
9
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. ( 26728615 )
2016
10
Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling. ( 27466203 )
2016
11
Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report. ( 27998308 )
2016
12
Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence. ( 28050387 )
2016
13
Monozygotic twins with de novo ZIC2 gene mutations discordant for the type of holoprosencephaly. ( 26962069 )
2016
14
Case 236: Middle Interhemispheric Variant of Holoprosencephaly. ( 27870630 )
2016
15
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing. ( 26748417 )
2016
16
Six3 dosage mediates the pathogenesis of holoprosencephaly. ( 27770010 )
2016
17
Holoprosencephaly: antenatal and postnatal diagnosis and outcome. ( 26767839 )
2016
18
Holoprosencephaly and Pure Red Cell Aplasia in a Feline Leukaemia Virus-Positive Kitten. ( 26897097 )
2016
19
Gli2 gene dosage and gene-environment interaction illuminate the etiological complexity of holoprosencephaly. ( 27585885 )
2016
20
Impact of holoprosencephaly, exomphalos, megacystis and high NT in first trimester screening for chromosomal abnormalities. ( 27558969 )
2016
21
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. ( 27363716 )
2016
22
Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice. ( 25468951 )
2015
23
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. ( 25590404 )
2015
24
Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate. ( 26495165 )
2015
25
Definition of critical periods for hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate. ( 25793997 )
2015
26
Alobar holoprosencephaly, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome. ( 27086438 )
2015
27
Absence of the lateral and third ventricles associated with holoprosencephaly. ( 26417484 )
2015
28
Early two-stage repair of clefts in holoprosencephaly. ( 25976037 )
2015
29
Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development. ( 26018729 )
2015
30
Holoprosencephaly with agenesia of the prosencephalic ventricle. ( 26785373 )
2015
31
A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype. ( 25820550 )
2015
32
Prenatal findings of holoprosencephaly. ( 25620469 )
2015
33
Variant course of bilateral anterior cerebral artery in semilobar holoprosencephaly. ( 26027553 )
2015
34
Lip Repair Surgery for Bilateral Cleft Lip and Palate in a Patient Diagnosed with Trisomy 13 and Holoprosencephaly. ( 26150185 )
2015
35
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
36
Semilobar Holoprosencephaly Associated with Multiple Malformations in a Foal. ( 25712180 )
2015
37
In Utero MR Imaging of Fetal Holoprosencephaly: A Structured Approach to Diagnosis and Classification. ( 26564444 )
2015
38
Correlation of bispectral index (BIS) monitoring and end-tidal sevoflurane concentration in a patient with lobar holoprosencephaly. ( 26323737 )
2015
39
Proboscis Lateralis : A Rare Bilateral Case in Association with Holoprosencephaly. ( 26436002 )
2015
40
Successful management of discordant alobar holoprosencephaly in monochorionic diamniotic twins with normal karyotype: a case report. ( 25864296 )
2015
41
Middle Interhemispheric Variant of Holoprosencephaly - Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus. ( 26500966 )
2015
42
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
43
Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings. ( 25658757 )
2015
44
ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS. ( 26625663 )
2015
45
Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother. ( 26155468 )
2015
46
Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly. ( 25569381 )
2015
47
Middle interhemispheric variant of holoprosencephaly: A rare midline malformation. ( 26557166 )
2015
48
Semilobar holoprosencephaly with 21q22 deletion: an autopsy report. ( 24626384 )
2014
49
Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism. ( 24706429 )
2014
50
A novel association of an uncommon pigmentation pattern: coexistence of cutis tricolor with intracranial teratoma and holoprosencephaly. ( 25525998 )
2014

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 60)
id Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.93 DHCR7 PTCH1 SHH SIX3
2 brain development GO:0007420 9.88 NODAL PTCH1 SIX3 ZIC1 ZIC2
3 heart development GO:0007507 9.85 FGF8 GLI2 LRP2 NODAL SHH
4 kidney development GO:0001822 9.84 FGF8 GLI2 SHH
5 determination of left/right symmetry GO:0007368 9.81 FGF8 NODAL SHH
6 anterior/posterior pattern specification GO:0009952 9.81 CDON GLI2 NODAL SHH
7 heart looping GO:0001947 9.77 FGF8 NODAL SHH
8 mammary gland development GO:0030879 9.73 GLI2 PTCH1
9 branching involved in blood vessel morphogenesis GO:0001569 9.73 FGF8 SHH
10 dorsal/ventral pattern formation GO:0009953 9.73 GLI2 PTCH1 SHH
11 branching morphogenesis of an epithelial tube GO:0048754 9.72 GLI2 SHH
12 embryonic hindlimb morphogenesis GO:0035116 9.72 FGF8 SHH
13 telencephalon development GO:0021537 9.72 FGF8 SIX3
14 embryonic pattern specification GO:0009880 9.72 NODAL SHH
15 branching involved in ureteric bud morphogenesis GO:0001658 9.72 FGF8 PTCH1 SHH
16 thyroid gland development GO:0030878 9.71 FGF8 SHH
17 dopaminergic neuron differentiation GO:0071542 9.71 FGF8 SHH
18 limb morphogenesis GO:0035108 9.71 FGF8 PTCH1
19 renal system development GO:0072001 9.71 PTCH1 SHH
20 hindbrain development GO:0030902 9.71 GLI2 SHH
21 vasculature development GO:0001944 9.7 NODAL SHH
22 lung morphogenesis GO:0060425 9.7 FGF8 SHH
23 male genitalia development GO:0030539 9.7 FGF8 SHH
24 embryonic heart tube development GO:0035050 9.7 FGF8 NODAL
25 developmental growth GO:0048589 9.7 GAS1 GLI2 SHH
26 pharyngeal system development GO:0060037 9.69 FGF8 PTCH1
27 osteoblast development GO:0002076 9.69 GLI2 SHH
28 positive regulation of protein import into nucleus GO:0042307 9.68 SHH ZIC1
29 somite development GO:0061053 9.68 PTCH1 SHH
30 anatomical structure development GO:0048856 9.68 GLI2 SHH
31 embryonic morphogenesis GO:0048598 9.68 CDON SHH
32 digestive tract morphogenesis GO:0048546 9.67 NODAL SHH
33 cell fate specification GO:0001708 9.67 CDON SHH
34 spinal cord motor neuron differentiation GO:0021522 9.67 GLI2 PTCH1 SHH
35 smoothened signaling pathway GO:0007224 9.67 CDON GLI2 PTCH1 SHH
36 cell proliferation in forebrain GO:0021846 9.66 FGF8 SIX3
37 striated muscle cell differentiation GO:0051146 9.66 CDON SHH
38 branching involved in salivary gland morphogenesis GO:0060445 9.65 FGF8 SHH
39 positive regulation of T cell differentiation in thymus GO:0033089 9.64 GLI2 SHH
40 positive regulation of skeletal muscle tissue development GO:0048643 9.64 CDON SHH
41 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.62 GLI2 PTCH1
42 forebrain dorsal/ventral pattern formation GO:0021798 9.62 FGF8 SIX3
43 telencephalon regionalization GO:0021978 9.61 SHH SIX3
44 mammary gland duct morphogenesis GO:0060603 9.61 GLI2 PTCH1
45 anatomical structure formation involved in morphogenesis GO:0048646 9.61 GLI2 NODAL SHH
46 spinal cord dorsal/ventral patterning GO:0021513 9.59 GLI2 SHH
47 formation of anatomical boundary GO:0048859 9.58 NODAL SHH
48 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.58 GLI2 SHH
49 hindgut morphogenesis GO:0007442 9.57 GLI2 SHH
50 cell fate commitment GO:0045165 9.56 FGF8 GAS1 NODAL 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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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