HPE
MCID: HLP001
MIFTS: 63

Holoprosencephaly (HPE) malady

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

Aliases & Classifications for Holoprosencephaly

About this section
Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 35LifeMap Discovery®, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Holoprosencephaly:

Name: Holoprosencephaly 35 11 23 48 24 49 54 27 50 39 13
Holoprosencephaly Sequence 11 27
 
Hpe 48 54

Characteristics:

Orphanet epidemiological data:

54
holoprosencephaly:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age


Classifications:



External Ids:

Disease Ontology11 DOID:4621
ICD1030 Q04.2
MeSH39 D016142
NCIt45 C74988
SNOMED-CT62 30915001, 44519006
Orphanet54 ORPHA2162
MESH via Orphanet40 D016142
UMLS via Orphanet69 C0079541
ICD10 via Orphanet31 Q04.2

Summaries for Holoprosencephaly

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Holoprosencephaly is ZIC2 (Zic Family Member 2), and among its related pathways are Glypican 3 network and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include brain, eye and pituitary, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

NINDS:49 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:11 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 for NBK1530

Related Diseases for Holoprosencephaly

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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)
idRelated DiseaseScoreTop Affiliating Genes
1nonsyndromic holoprosencephaly12.2
2holoprosencephaly, semilobar, with craniosynostosis12.1
3holoprosencephaly 1112.1
4holoprosencephaly 112.0
5semilobar holoprosencephaly12.0
6holoprosencephaly 612.0
7holoprosencephaly 812.0
8lobar holoprosencephaly11.9
9alobar holoprosencephaly11.9
10septopreoptic holoprosencephaly11.9
11holoprosencephaly with fetal akinesia/hypokinesia sequence11.8
12holoprosencephaly caudal dysgenesis11.8
13midline interhemispheric variant of holoprosencephaly11.8
14hartsfield syndrome11.8
15holoprosencephaly, recurrent infections, and monocytosis11.7
16gli2-related holoprosencephaly11.7
17shh-related holoprosencephaly11.7
18cdon-related holoprosencephaly11.7
19hpe6-related holoprosencephaly11.7
20ptch1-related holoprosencephaly11.7
21six3-related holoprosencephaly11.7
22tgif1-related holoprosencephaly11.7
23zic2-related holoprosencephaly11.7
24holoprosencephaly-911.7
25hpe8-related holoprosencephaly11.7
26nodal-related holoprosencephaly11.7
27congenital nasal pyriform aperture stenosis with holoprosencephaly11.7
28holoprosencephaly ectrodactyly cleft lip palate11.6
29microcephaly, holoprosencephaly, and intrauterine growth retardation11.6
30foxh1-related holoprosencephaly11.6
31holoprosencephaly-311.6
32holoprosencephaly-711.6
33agnathia-otocephaly complex11.6
34holoprosencephaly-211.6
35holoprosencephaly-411.6
36holoprosencephaly-511.5
37pseudotrisomy 13 syndrome11.1
38steinfeld syndrome11.1
39dysgnathia complex11.1
40schizencephaly11.1
41single median maxillary central incisor11.0
42corpus callosum agenesis10.9
43mental retardation, x-linked syndromic, turner type10.7
44heterotaxy, visceral, 1, x-linked10.7
45hypoglossia with situs inversus hypoglossia, isolated, included10.7
46cerebellar agenesis10.7
47chromosome 1q41-q42 deletion syndrome10.6
48morse-rawnsley-sargent syndrome10.6
49fga-related congenital afibrinogenemia10.3SHH, SIX3
50anosmia, isolated congenital10.2SHH, TGIF1

Graphical network of the top 20 diseases related to Holoprosencephaly:



Diseases related to holoprosencephaly

Symptoms & Phenotypes for Holoprosencephaly

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Human phenotypes related to Holoprosencephaly:

 54 64 (show all 98)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Occasional (29-5%) HP:0000028
2 abnormality of the urinary system54 Occasional (29-5%)
3 proteinuria64 54 Occasional (29-5%) HP:0000093
4 median cleft lip54 Very frequent (99-80%)
5 hydrocephalus64 54 Occasional (29-5%) HP:0000238
6 microcephaly64 54 Frequent (79-30%) HP:0000252
7 macrocephaly64 54 Occasional (29-5%) HP:0000256
8 epicanthus64 54 Occasional (29-5%) HP:0000286
9 broad philtrum64 54 Occasional (29-5%) HP:0000289
10 hypertelorism64 54 Occasional (29-5%) HP:0000316
11 macrotia64 54 Occasional (29-5%) HP:0000400
12 depressed nasal tip64 54 Occasional (29-5%) HP:0000437
13 choanal atresia64 54 Frequent (79-30%) HP:0000453
14 depressed nasal ridge64 54 Frequent (79-30%) HP:0000457
15 anosmia64 54 Frequent (79-30%) HP:0000458
16 anteverted nares64 54 Occasional (29-5%) HP:0000463
17 short neck64 54 Occasional (29-5%) HP:0000470
18 retinopathy64 54 Occasional (29-5%) HP:0000488
19 deeply set eye64 54 Occasional (29-5%) HP:0000490
20 ptosis64 54 Occasional (29-5%) HP:0000508
21 anophthalmia64 54 Frequent (79-30%) HP:0000528
22 chorioretinal coloboma64 54 Occasional (29-5%) HP:0000567
23 microphthalmia64 54 Frequent (79-30%) HP:0000568
24 thick eyebrow64 54 Occasional (29-5%) HP:0000574
25 blepharophimosis64 54 Occasional (29-5%) HP:0000581
26 upslanted palpebral fissure64 54 Occasional (29-5%) HP:0000582
27 hypotelorism64 54 Frequent (79-30%) HP:0000601
28 iris coloboma64 54 Frequent (79-30%) HP:0000612
29 optic atrophy64 54 Occasional (29-5%) HP:0000648
30 synophrys64 54 Occasional (29-5%) HP:0000664
31 congenital diaphragmatic hernia64 54 Occasional (29-5%) HP:0000776
32 diabetes mellitus64 54 Frequent (79-30%) HP:0000819
33 anterior hypopituitarism54 Occasional (29-5%)
34 panhypopituitarism64 54 Occasional (29-5%) HP:0000871
35 diabetes insipidus64 54 Occasional (29-5%) HP:0000873
36 abnormality of the skull54 Occasional (29-5%)
37 brachydactyly syndrome64 54 Occasional (29-5%) HP:0001156
38 hand polydactyly64 54 Occasional (29-5%) HP:0001161
39 seizures64 54 Frequent (79-30%) HP:0001250
40 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
41 spasticity64 54 Frequent (79-30%) HP:0001257
42 global developmental delay64 54 Frequent (79-30%) HP:0001263
43 dandy-walker malformation64 54 Occasional (29-5%) HP:0001305
44 muscle weakness64 54 Frequent (79-30%) HP:0001324
45 dystonia64 54 Frequent (79-30%) HP:0001332
46 holoprosencephaly64 54 Very frequent (99-80%) HP:0001360
47 failure to thrive in infancy64 54 Occasional (29-5%) HP:0001531
48 omphalocele64 54 Occasional (29-5%) HP:0001539
49 ventricular septal defect64 54 Occasional (29-5%) HP:0001629
50 tetralogy of fallot64 54 Occasional (29-5%) HP:0001636
51 abnormality of the pulmonary valve64 54 Occasional (29-5%) HP:0001641
52 abnormality of the aorta64 54 Occasional (29-5%) HP:0001679
53 abnormality of the spleen64 54 Occasional (29-5%) HP:0001743
54 talipes64 54 Occasional (29-5%) HP:0001883
55 hypoglycemia64 54 Frequent (79-30%) HP:0001943
56 abnormal facial shape64 54 Very frequent (99-80%) HP:0001999
57 deep philtrum64 54 Occasional (29-5%) HP:0002002
58 frontal bossing64 54 Occasional (29-5%) HP:0002007
59 constipation64 54 Occasional (29-5%) HP:0002019
60 gastroesophageal reflux64 54 Frequent (79-30%) HP:0002020
61 chorea64 54 Occasional (29-5%) HP:0002072
62 encephalocele64 54 Occasional (29-5%) HP:0002084
63 respiratory insufficiency64 54 Occasional (29-5%) HP:0002093
64 abnormality of neuronal migration64 54 Occasional (29-5%) HP:0002269
65 highly arched eyebrow64 54 Occasional (29-5%) HP:0002553
66 scoliosis64 54 Occasional (29-5%) HP:0002650
67 hyponatremia64 54 Occasional (29-5%) HP:0002902
68 abnormal form of the vertebral bodies64 54 Occasional (29-5%) HP:0003312
69 hyposmia64 54 Frequent (79-30%) HP:0004409
70 flat occiput64 54 Occasional (29-5%) HP:0005469
71 joint hyperflexibility64 54 Occasional (29-5%) HP:0005692
72 single median maxillary incisor64 54 Very frequent (99-80%) HP:0006315
73 aplasia/hypoplasia of the lungs64 54 Occasional (29-5%) HP:0006703
74 aplasia/hypoplasia of the cerebellum64 54 Occasional (29-5%) HP:0007360
75 aplasia/hypoplasia of the corpus callosum64 54 Frequent (79-30%) HP:0007370
76 median cleft lip and palate64 54 Very frequent (99-80%) HP:0008501
77 external ear malformation64 54 Occasional (29-5%) HP:0008572
78 hypoplasia of penis64 54 Occasional (29-5%) HP:0008736
79 feeding difficulties in infancy64 54 Occasional (29-5%) HP:0008872
80 abnormality of the antihelix64 54 Occasional (29-5%) HP:0009738
81 branchial anomaly64 54 Occasional (29-5%) HP:0009794
82 reduced number of teeth64 54 Frequent (79-30%) HP:0009804
83 cyclopia64 54 Frequent (79-30%) HP:0009914
84 aplasia/hypoplasia involving the nose64 54 Occasional (29-5%) HP:0009924
85 spinal dysraphism64 54 Occasional (29-5%) HP:0010301
86 spinal cord tumor64 54 Occasional (29-5%) HP:0010302
87 cheekbone underdevelopment54 Occasional (29-5%)
88 intestinal atresia64 54 Occasional (29-5%) HP:0011100
89 arrhythmia64 54 Occasional (29-5%) HP:0011675
90 abnormality of nervous system morphology54 Very frequent (99-80%)
91 bilateral cleft lip64 54 Very frequent (99-80%) HP:0100336
92 cognitive impairment64 54 Frequent (79-30%) HP:0100543
93 absent nares64 54 Occasional (29-5%) HP:0100596
94 micropenis64 HP:0000054
95 adrenal hypoplasia64 HP:0000835
96 facial cleft64 HP:0002006
97 alobar holoprosencephaly64 HP:0006988
98 hypoplasia of the zygomatic bone64 HP:0010669

MGI Mouse Phenotypes related to Holoprosencephaly according to GeneCards Suite gene sharing:

41 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.4NODAL, SHH, SIX3, TGIF1
2MP:00053778.5FGF8, GAS1, GLI2, LRP2, SHH, TGIF1
3MP:00053897.9FGF8, GLI2, LRP2, NODAL, PTCH1, SHH
4MP:00028737.5FGF8, GLI2, MNX1, NODAL, PTCH1, SHH
5MP:00053697.2DHCR7, FGF8, GLI2, MNX1, NODAL, PTCH1
6MP:00053717.1CDON, DHCR7, FGF8, GAS1, GLI2, LRP2
7MP:00053806.5CDON, FGF8, GAS1, GLI2, LRP2, NODAL
8MP:00053916.4CDON, FGF8, GAS1, GLI2, LRP2, NODAL
9MP:00053826.3CDON, DHCR7, FGF8, GAS1, GLI2, LRP2
10MP:00053866.3CDON, DHCR7, FGF8, GAS1, GLI2, LRP2
11MP:00053846.0CDON, FGF8, GAS1, GLI2, LRP2, MNX1
12MP:00053765.9DHCR7, FGF8, GAS1, GLI2, LRP2, LSS
13MP:00053855.8CDON, DHCR7, FGF8, GAS1, LRP2, MNX1
14MP:00053815.8CDON, DHCR7, FGF8, GLI2, LRP2, MNX1
15MP:00053905.5CDON, FGF8, GAS1, GLI2, LRP2, MNX1
16MP:00053885.4CDON, DHCR7, FGF8, GAS1, GLI2, LRP2
17MP:00053785.0CDON, DHCR7, FGF8, GAS1, GLI2, LRP2
18MP:00036314.9CDON, DHCR7, FGF8, GAS1, GLI2, LRP2
19MP:00107684.7CDON, DHCR7, FGF8, GAS1, GLI2, LRP2

Drugs & Therapeutics for Holoprosencephaly

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of HolopresencephalyCompletedNCT00005016
2Genetic Analysis of Left-Right Axis FormationsCompletedNCT00341133
3Clinical and Genetic Studies on HoloprosencephalyRecruitingNCT00088426
4A Study of the Genetic Analysis of Brain DisordersRecruitingNCT00645645

Search NIH Clinical Center for Holoprosencephaly


Cochrane evidence based reviews: holoprosencephaly

Genetic Tests for Holoprosencephaly

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Genetic tests related to Holoprosencephaly:

id Genetic test Affiliating Genes
1 Holoprosencephaly Sequence27
2 Holoprosencephaly27 24 ZIC2

Anatomical Context for Holoprosencephaly

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MalaCards organs/tissues related to Holoprosencephaly:

36
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:
id TissueAnatomical CompartmentCell Relevance
1 Primitive StreakPrimitive Streak  Affected by disease

Publications for Holoprosencephaly

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Articles related to Holoprosencephaly:

(show top 50)    (show all 624)
idTitleAuthorsYear
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

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Copy number variations for Holoprosencephaly from CNVD:

6 (show all 17)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1277411212100000222100000DeletionDISP1Holoprosencephaly
227742105374404653747423DeletionDKK1Holoprosencephaly
3277432121271336121449155DeletionGLI2Holoprosencephaly
4277451212100000222100000DeletionPATCHEDHoloprosencephaly
5277467155285496155297728DeletionSHHHoloprosencephaly
6277471212100000222100000DeletionSILHoloprosencephaly
72774824502254045025894DeletionSIX3Holoprosencephaly
8277491212100000222100000DeletionSMOOTHENEDHoloprosencephaly
9277501212100000222100000DeletionTGIFHoloprosencephaly
1027751139943231999437020DeletionZIC2Holoprosencephaly
1180937139943231999437020MicrodeletionZIC2Holoprosencephaly
1291539153140000037900000DeletionHoloprosencephaly
1393580155580000065300000DeletionHoloprosencephaly
141209081834020713448406MicrodeletionTGIFHoloprosencephaly
1514603024502254045025894MicrodeletionSIX3Holoprosencephaly
1621023862990000045200000GainHoloprosencephaly
172227297155285496155297728MicrodeletionSHHHoloprosencephaly

Expression for genes affiliated with Holoprosencephaly

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Search GEO for disease gene expression data for Holoprosencephaly.

Pathways for genes affiliated with Holoprosencephaly

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GO Terms for genes affiliated with Holoprosencephaly

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

(show top 50)    (show all 60)
idNameGO IDScoreTop Affiliating Genes
1anatomical structure developmentGO:004885610.7GLI2, SHH
2branching morphogenesis of an epithelial tubeGO:004875410.7GLI2, SHH
3hindbrain developmentGO:003090210.7GLI2, SHH
4hindgut morphogenesisGO:000744210.7GLI2, SHH
5mammary gland developmentGO:003087910.7GLI2, PTCH1
6mammary gland duct morphogenesisGO:006060310.7GLI2, PTCH1
7osteoblast developmentGO:000207610.7GLI2, SHH
8cell fate specificationGO:000170810.7CDON, SHH
9positive regulation of T cell differentiation in thymusGO:003308910.7GLI2, SHH
10embryonic morphogenesisGO:004859810.7CDON, SHH
11positive regulation of skeletal muscle tissue developmentGO:004864310.6CDON, SHH
12positive regulation of protein import into nucleusGO:004230710.6SHH, ZIC1
13cell proliferation in forebrainGO:002184610.6FGF8, SIX3
14branching involved in blood vessel morphogenesisGO:000156910.6FGF8, SHH
15branching involved in salivary gland morphogenesisGO:006044510.6FGF8, SHH
16forebrain dorsal/ventral pattern formationGO:002179810.6FGF8, SIX3
17dopaminergic neuron differentiationGO:007154210.6FGF8, SHH
18embryonic hindlimb morphogenesisGO:003511610.6FGF8, SHH
19lung morphogenesisGO:006042510.5FGF8, SHH
20male genitalia developmentGO:003053910.5FGF8, SHH
21renal system developmentGO:007200110.5PTCH1, SHH
22limb morphogenesisGO:003510810.5FGF8, PTCH1
23somite developmentGO:006105310.5PTCH1, SHH
24pharyngeal system developmentGO:006003710.5FGF8, PTCH1
25smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:002193810.5GLI2, SHH
26spinal cord dorsal/ventral patterningGO:002151310.5GLI2, SHH
27smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:006083110.4GLI2, PTCH1
28telencephalon regionalizationGO:002197810.4SHH, SIX3
29dorsal/ventral neural tube patterningGO:002190410.4GLI2, PTCH1, SHH
30dorsal/ventral pattern formationGO:000995310.4GLI2, PTCH1, SHH
31striated muscle cell differentiationGO:005114610.4CDON, SHH
32branching involved in ureteric bud morphogenesisGO:000165810.3FGF8, PTCH1, SHH
33kidney developmentGO:000182210.2FGF8, GLI2, SHH
34telencephalon developmentGO:002153710.2FGF8, SIX3
35digestive tract morphogenesisGO:004854610.2NODAL, SHH
36developmental growthGO:004858910.2GAS1, GLI2, SHH
37embryonic pattern specificationGO:000988010.2NODAL, SHH
38formation of anatomical boundaryGO:004885910.2NODAL, SHH
39spinal cord motor neuron differentiationGO:002152210.2GLI2, PTCH1, SHH
40thyroid gland developmentGO:003087810.1FGF8, SHH
41pattern specification processGO:000738910.0GLI2, PTCH1, SHH, ZIC1
42embryonic heart tube developmentGO:003505010.0FGF8, NODAL
43regulation of cell proliferationGO:004212710.0DHCR7, PTCH1, SHH, SIX3
44ventral midline developmentGO:00074189.9GLI2, SHH
45anatomical structure formation involved in morphogenesisGO:00486469.9GLI2, NODAL, SHH
46smoothened signaling pathwayGO:00072249.9CDON, GLI2, PTCH1, SHH
47determination of left/right symmetryGO:00073689.7FGF8, NODAL, SHH
48heart loopingGO:00019479.7FGF8, NODAL, SHH
49positive regulation of transcription, DNA-templatedGO:00458939.7GLI2, PTCH1, SHH, ZIC1, ZIC2
50regulation of smoothened signaling pathwayGO:00085899.6GAS1, GLI2, PTCH1, ZIC1

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

idNameGO IDScoreTop Affiliating Genes
1patched bindingGO:000511310.6PTCH1, SHH
2morphogen activityGO:001601510.1NODAL, SHH
3transcription factor activity, sequence-specific DNA bindingGO:00037008.5GLI2, MNX1, SIX3, TGIF1, ZIC1, ZIC2

Sources for Holoprosencephaly

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