MCID: HLP001
MIFTS: 62

Holoprosencephaly malady

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

Aliases & Classifications for Holoprosencephaly

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Sources:
33LifeMap Discovery®, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 47NINDS, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 28ICD10, 43NCIt, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Holoprosencephaly:

Name: Holoprosencephaly 33 11 22 46 23 47 13 52 25 48 37
Holoprosencephaly Sequence 11 25
 
Hpe 46 52

Characteristics:

Orphanet epidemiological data:

52
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
ICD1028 Q04.2
MeSH37 D016142
NCIt43 C74988
SNOMED-CT60 30915001, 44519006
Orphanet52 ORPHA2162
UMLS via Orphanet67 C0079541
ICD10 via Orphanet29 Q04.2
MESH via Orphanet38 D016142

Summaries for Holoprosencephaly

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NIH Rare Diseases:46 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 agnathia-otocephaly complex and currarino syndrome, and has symptoms including holoprosencephaly, abnormal facial shape and single median maxillary incisor. An important gene associated with Holoprosencephaly is ZIC2 (Zic Family Member 2), and among its related pathways are Glypican 3 network and Wnt / Hedgehog / Notch. Affiliated tissues include brain, eye and pituitary, and related mouse phenotypes are hearing/vestibular/ear and muscle.

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.

NINDS:47 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.

Wikipedia:69 Holoprosencephaly (HPE, once known as arhinencephaly) is a cephalic disorder in which the prosencephalon... more...

GeneReviews summary 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 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 167)
idRelated DiseaseScoreTop Affiliating Genes
1agnathia-otocephaly complex31.4GLI2, NODAL, PRRX1, SHH
2currarino syndrome29.9LSS, SHH
3hydrocephalus23.0CDON, DHCR7, DISP1, FGFR1, GAS1, GLI2
4semilobar holoprosencephaly12.1
5nonsyndromic holoprosencephaly12.1
6holoprosencephaly, semilobar, with craniosynostosis12.1
7lobar holoprosencephaly12.1
8alobar holoprosencephaly12.1
9holoprosencephaly 1112.0
10septopreoptic holoprosencephaly12.0
11holoprosencephaly with fetal akinesia/hypokinesia sequence12.0
12holoprosencephaly caudal dysgenesis11.9
13midline interhemispheric variant of holoprosencephaly11.9
14hpe6-related holoprosencephaly11.9
15holoprosencephaly, recurrent infections, and monocytosis11.9
16gli2-related holoprosencephaly11.9
17shh-related holoprosencephaly11.9
18cdon-related holoprosencephaly11.8
19ptch1-related holoprosencephaly11.8
20six3-related holoprosencephaly11.8
21tgif1-related holoprosencephaly11.8
22zic2-related holoprosencephaly11.8
23hpe8-related holoprosencephaly11.8
24nodal-related holoprosencephaly11.8
25congenital nasal pyriform aperture stenosis with holoprosencephaly11.8
26holoprosencephaly ectrodactyly cleft lip palate11.7
27microcephaly, holoprosencephaly, and intrauterine growth retardation11.7
28foxh1-related holoprosencephaly11.7
29hartsfield syndrome11.5
30holoprosencephaly-911.4
31holoprosencephaly-311.3
32holoprosencephaly-711.3
33holoprosencephaly-211.3
34holoprosencephaly-511.3
35holoprosencephaly-411.3
36pseudotrisomy 13 syndrome11.2
37steinfeld syndrome11.2
38dysgnathia complex11.2
39single median maxillary central incisor11.1
40chromosome 1q41-q42 deletion syndrome10.8
41morse-rawnsley-sargent syndrome10.8
42familial thrombotic thrombocytopenia purpura10.7SHH, SIX3
43schizencephaly10.5
44camera marugo cohen syndrome10.5GLI2, PTCH1
45homocysteinemia10.4GLI2, PTCH1, SIX3
46colonic pseudo-obstruction10.4GLI2, PTCH1
47laurin-sandrow syndrome10.3LSS, SHH
48aortic valve atresia10.3CDON, SHH, TGIF1
49syndactyly, type iv10.3LSS, SHH
50hypoplastic or aplastic tibia with polydactyly10.3LSS, SHH

Graphical network of the top 20 diseases related to Holoprosencephaly:



Diseases related to holoprosencephaly

Symptoms for Holoprosencephaly

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Symptoms:

 52 (show all 93)
  • cryptorchidism
  • abnormality of the urinary system
  • proteinuria
  • median cleft lip
  • hydrocephalus
  • microcephaly
  • macrocephaly
  • epicanthus
  • broad philtrum
  • hypertelorism
  • macrotia
  • depressed nasal tip
  • choanal atresia
  • depressed nasal ridge
  • anosmia
  • anteverted nares
  • short neck
  • retinopathy
  • deeply set eye
  • ptosis
  • anophthalmia
  • chorioretinal coloboma
  • microphthalmos
  • thick eyebrow
  • blepharophimosis
  • upslanted palpebral fissure
  • hypotelorism
  • iris coloboma
  • optic atrophy
  • synophrys
  • congenital diaphragmatic hernia
  • diabetes mellitus
  • anterior hypopituitarism
  • panhypopituitarism
  • diabetes insipidus
  • abnormality of the skull
  • brachydactyly syndrome
  • hand polydactyly
  • seizures
  • muscular hypotonia
  • spasticity
  • global developmental delay
  • dandy-walker malformation
  • muscle weakness
  • dystonia
  • holoprosencephaly
  • failure to thrive in infancy
  • omphalocele
  • ventricular septal defect
  • tetralogy of fallot
  • abnormality of the pulmonary valve
  • abnormality of the aorta
  • abnormality of the spleen
  • talipes
  • hypoglycemia
  • abnormal facial shape
  • deep philtrum
  • frontal bossing
  • constipation
  • gastroesophageal reflux
  • chorea
  • encephalocele
  • respiratory insufficiency
  • abnormality of neuronal migration
  • highly arched eyebrow
  • scoliosis
  • hyponatremia
  • abnormal form of the vertebral bodies
  • hyposmia
  • flat occiput
  • joint hyperflexibility
  • single median maxillary incisor
  • aplasia/hypoplasia of the lungs
  • aplasia/hypoplasia of the cerebellum
  • aplasia/hypoplasia of the corpus callosum
  • median cleft lip and palate
  • external ear malformation
  • hypoplasia of penis
  • feeding difficulties in infancy
  • abnormality of the antihelix
  • branchial anomaly
  • reduced number of teeth
  • cyclopia
  • aplasia/hypoplasia involving the nose
  • spinal dysraphism
  • spinal cord tumor
  • cheekbone underdevelopment
  • intestinal atresia
  • arrhythmia
  • abnormality of nervous system morphology
  • bilateral cleft lip
  • cognitive impairment
  • absent nares

HPO human phenotypes related to Holoprosencephaly:

(show all 85)
id Description Frequency HPO Source Accession
1 holoprosencephaly hallmark (90%) HP:0001360
2 abnormal facial shape hallmark (90%) HP:0001999
3 single median maxillary incisor hallmark (90%) HP:0006315
4 non-midline cleft lip hallmark (90%) HP:0100335
5 microcephaly typical (50%) HP:0000252
6 choanal atresia typical (50%) HP:0000453
7 depressed nasal ridge typical (50%) HP:0000457
8 hypotelorism typical (50%) HP:0000601
9 iris coloboma typical (50%) HP:0000612
10 diabetes mellitus typical (50%) HP:0000819
11 seizures typical (50%) HP:0001250
12 muscular hypotonia typical (50%) HP:0001252
13 hypertonia typical (50%) HP:0001276
14 muscle weakness typical (50%) HP:0001324
15 hypoglycemia typical (50%) HP:0001943
16 abnormality of the sense of smell typical (50%) HP:0004408
17 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
18 aplasia/hypoplasia affecting the eye typical (50%) HP:0008056
19 reduced number of teeth typical (50%) HP:0009804
20 cyclopia typical (50%) HP:0009914
21 cognitive impairment typical (50%) HP:0100543
22 cryptorchidism occasional (7.5%) HP:0000028
23 proteinuria occasional (7.5%) HP:0000093
24 hydrocephalus occasional (7.5%) HP:0000238
25 macrocephaly occasional (7.5%) HP:0000256
26 epicanthus occasional (7.5%) HP:0000286
27 abnormality of the philtrum occasional (7.5%) HP:0000288
28 hypertelorism occasional (7.5%) HP:0000316
29 anteverted nares occasional (7.5%) HP:0000463
30 short neck occasional (7.5%) HP:0000470
31 retinopathy occasional (7.5%) HP:0000488
32 deeply set eye occasional (7.5%) HP:0000490
33 ptosis occasional (7.5%) HP:0000508
34 chorioretinal coloboma occasional (7.5%) HP:0000567
35 thick eyebrow occasional (7.5%) HP:0000574
36 blepharophimosis occasional (7.5%) HP:0000581
37 upslanted palpebral fissure occasional (7.5%) HP:0000582
38 optic atrophy occasional (7.5%) HP:0000648
39 synophrys occasional (7.5%) HP:0000664
40 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
41 anterior hypopituitarism occasional (7.5%) HP:0000830
42 diabetes insipidus occasional (7.5%) HP:0000873
43 brachydactyly syndrome occasional (7.5%) HP:0001156
44 hand polydactyly occasional (7.5%) HP:0001161
45 dandy-walker malformation occasional (7.5%) HP:0001305
46 joint hypermobility occasional (7.5%) HP:0001382
47 omphalocele occasional (7.5%) HP:0001539
48 ventricular septal defect occasional (7.5%) HP:0001629
49 tetralogy of fallot occasional (7.5%) HP:0001636
50 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
51 abnormality of the aorta occasional (7.5%) HP:0001679
52 abnormality of the spleen occasional (7.5%) HP:0001743
53 talipes occasional (7.5%) HP:0001883
54 frontal bossing occasional (7.5%) HP:0002007
55 constipation occasional (7.5%) HP:0002019
56 chorea occasional (7.5%) HP:0002072
57 encephalocele occasional (7.5%) HP:0002084
58 respiratory insufficiency occasional (7.5%) HP:0002093
59 abnormality of neuronal migration occasional (7.5%) HP:0002269
60 highly arched eyebrow occasional (7.5%) HP:0002553
61 scoliosis occasional (7.5%) HP:0002650
62 abnormality of chromosome segregation occasional (7.5%) HP:0002916
63 hypernatremia occasional (7.5%) HP:0003228
64 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
65 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
66 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
67 external ear malformation occasional (7.5%) HP:0008572
68 hypoplasia of penis occasional (7.5%) HP:0008736
69 abnormality of the antihelix occasional (7.5%) HP:0009738
70 branchial anomaly occasional (7.5%) HP:0009794
71 abnormality of the tragus occasional (7.5%) HP:0009912
72 aplasia/hypoplasia involving the nose occasional (7.5%) HP:0009924
73 spinal dysraphism occasional (7.5%) HP:0010301
74 hypoplasia of the zygomatic bone occasional (7.5%) HP:0010669
75 arrhythmia occasional (7.5%) HP:0011675
76 absent nares occasional (7.5%) HP:0100596
77 micropenis HP:0000054
78 hypotelorism HP:0000601
79 adrenal hypoplasia HP:0000835
80 seizures HP:0001250
81 hypoglycemia HP:0001943
82 facial cleft HP:0002006
83 alobar holoprosencephaly HP:0006988
84 median cleft lip and palate HP:0008501
85 cyclopia HP:0009914

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 Sequence25
2 Holoprosencephaly25 23 ZIC2

Anatomical Context for Holoprosencephaly

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MalaCards organs/tissues related to Holoprosencephaly:

34
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

Animal Models for Holoprosencephaly or affiliated genes

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MGI Mouse Phenotypes related to Holoprosencephaly:

39 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6FGFR1, GAS1, GLI2, PRRX1, SHH, TGIF1
2MP:00053698.0DHCR7, DISP1, FGFR1, GLI2, NODAL, PTCH1
3MP:00028737.9DISP1, FGFR1, GLI2, NODAL, PTCH1, SHH
4MP:00053817.4CDON, DHCR7, FGFR1, GLI2, NODAL, PRRX1
5MP:00053847.1CDON, DISP1, FGFR1, GAS1, GLI2, NODAL
6MP:00053866.9CDON, DHCR7, FGFR1, GAS1, GLI2, PRRX1
7MP:00053886.7CDON, DHCR7, DISP1, GAS1, GLI2, NODAL
8MP:00053916.4CDON, DISP1, FGFR1, GAS1, GLI2, NODAL
9MP:00053826.1CDON, DHCR7, DISP1, FGFR1, GAS1, GLI2
10MP:00053806.1CDON, DISP1, FGFR1, GAS1, GLI2, NODAL
11MP:00053856.1CDON, DHCR7, DISP1, FGFR1, GAS1, NODAL
12MP:00053715.8CDON, DHCR7, DISP1, FGFR1, GAS1, GLI2
13MP:00053905.7CDON, DISP1, FGFR1, GAS1, GLI2, NODAL
14MP:00053765.7DHCR7, DISP1, FGFR1, GAS1, GLI2, LSS
15MP:00036315.6CDON, DHCR7, DISP1, FGFR1, GAS1, GLI2
16MP:00053785.5CDON, DHCR7, DISP1, FGFR1, GAS1, GLI2
17MP:00107685.3CDON, DHCR7, DISP1, FGFR1, GAS1, GLI2

Publications for Holoprosencephaly

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Articles related to Holoprosencephaly:

(show top 50)    (show all 614)
idTitleAuthorsYear
1
Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling. (27466203)
2016
2
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. (25590404)
2015
3
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
4
Cyclopia, proboscis and alobar holoprosencephaly representative for trisomy 13. (25365860)
2014
5
Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects. (24091065)
2014
6
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. (25218063)
2014
7
Biparietal diameter-to-crown-rump length disproportion in first-trimester fetuses with holoprosencephaly. (24958402)
2014
8
First trimester screening for holoprosencephaly with choroid plexus morphology ('butterfly' sign) and biparietal diameter. (24018978)
2013
9
Thick corpus callosum: a clue to the diagnosis of fetal septopreoptic holoprosencephaly? (22006531)
2012
10
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. (21204232)
2011
11
Exon trapping analysis of c.301-19GA >A A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly. (21044704)
2011
12
Two cases of single-stage lip and nostril reconstruction in holoprosencephaly. (21470822)
2011
13
Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester. (23705090)
2011
14
Clinical image. Middle interhemispheric variant of holoprosencephaly. (19997726)
2010
15
Moebius syndrome and holoprosencephaly following exposure to misoprostol. (20933185)
2010
16
Holoprosencephaly-diencephalic hamartoma: sequence or pleiotropy? (20034093)
2010
17
The 11-13-week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis. (20564304)
2010
18
Lobar holoprosencephaly with a median cleft: case report. (19929095)
2009
19
Holoprosencephaly in an 8.5-week triploidy gestation. (19357506)
2009
20
Zic-associated holoprosencephaly: zebrafish Zic1 controls midline formation and forebrain patterning by regulating Nodal, Hedgehog, and retinoic acid signaling. (19528322)
2009
21
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans. (19184110)
2009
22
Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder. (18049080)
2008
23
Holoprosencephaly: an antenatally-diagnosed case series and subject review. (18695774)
2008
24
Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation. (18617531)
2008
25
Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly. (18338389)
2008
26
Semilobar holoprosencephaly in Seckel syndrome. (18537018)
2008
27
A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma. (17497722)
2007
28
A mechanism for mutational inactivation of the homeodomain protein TGIF in holoprosencephaly. (17158784)
2007
29
Links between abnormal brain structure and cognition in holoprosencephaly. (17138007)
2006
30
Anatomically corrected malposition of the great arteries in the setting of aortopulmonary window associated with holoprosencephaly. (16437257)
2006
31
SIX3 mutations with holoprosencephaly. (17001667)
2006
32
Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. (15820313)
2005
33
From holoprosencephaly to osteopathology: role of multifunctional endocytic receptors in absorptive epithelia. (12952015)
2003
34
Identification of unexpected parental Robertsonian (13q;14q) translocations following prenatal sonographic detection of holoprosencephaly. (12230460)
2002
35
Apolipoprotein B and apolipoprotein E genotypes and sporadic holoprosencephaly. (11857554)
2002
36
Mosaic trisomy 9 and lobar holoprosencephaly. (12210326)
2002
37
Translocation 1q15q in a fetus with holoprosencephaly. (12478641)
2002
38
Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain. (12370462)
2002
39
Holoprosencephaly: the Maastricht experience. (11693794)
2001
40
Holoprosencephaly (lobar form) associated with bilateral vocal cord palsy. (11785509)
2001
41
Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. (11349198)
2001
42
Holoprosencephaly: recent advances and new insights. (10987568)
2000
43
Mutations in holoprosencephaly. (10923031)
2000
44
Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly. (10392502)
1999
45
Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. (9602489)
1998
46
Another holoprosencephaly locus at 7q21.2? (9678712)
1998
47
Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q. (9508065)
1998
48
Giant glioependymal cyst resembling holoprosencephaly on prenatal ultrasound: case report and review of the literature. (9165685)
1997
49
Disorders of midline structures: holoprosencephaly, absence of corpus callosum, and Chiari malformations. (3078668)
1988
50
Acalvaria, holoprosencephaly, and facial dysmorphism syndrome. (3491120)
1986

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 all 50)
idNameGO IDScoreTop Affiliating Genes
1spinal cord dorsal/ventral patterningGO:002151310.6GLI2, SHH
2smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:002193810.6GLI2, SHH
3ventral midline developmentGO:000741810.6GLI2, SHH
4telencephalon regionalizationGO:002197810.6SHH, SIX3
5somite developmentGO:006105310.6PTCH1, SHH
6positive regulation of T cell differentiation in thymusGO:003308910.6GLI2, SHH
7hindgut morphogenesisGO:000744210.6GLI2, SHH
8anatomical structure developmentGO:004885610.6GLI2, SHH
9smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:006083110.6GLI2, PTCH1
10embryonic morphogenesisGO:004859810.5CDON, SHH
11branching morphogenesis of an epithelial tubeGO:004875410.5GLI2, SHH
12osteoblast developmentGO:000207610.5GLI2, SHH
13pituitary gland developmentGO:002198310.5GLI2, SIX3
14striated muscle cell differentiationGO:005114610.5CDON, SHH
15formation of anatomical boundaryGO:004885910.5NODAL, SHH
16mammary gland developmentGO:003087910.5GLI2, PTCH1
17renal system developmentGO:007200110.5PTCH1, SHH
18hindbrain developmentGO:003090210.5GLI2, SHH
19mammary gland duct morphogenesisGO:006060310.4GLI2, PTCH1
20embryonic organ developmentGO:004856810.4PTCH1, SHH
21positive regulation of skeletal muscle tissue developmentGO:004864310.4CDON, SHH
22cell fate specificationGO:000170810.4CDON, SHH
23digestive tract morphogenesisGO:004854610.4NODAL, SHH
24branching involved in salivary gland morphogenesisGO:006044510.4FGFR1, SHH
25vasculature developmentGO:000194410.3NODAL, SHH
26dorsal/ventral neural tube patterningGO:002190410.3GLI2, PTCH1, SHH
27spinal cord motor neuron differentiationGO:002152210.3GLI2, PTCH1, SHH
28middle ear morphogenesisGO:004247410.2FGFR1, PRRX1
29positive regulation of smoothened signaling pathwayGO:004588010.2PRRX1, SHH
30negative regulation of gene expressionGO:001062910.0FGFR1, SHH, TGIF1
31lung-associated mesenchyme developmentGO:00604849.9FGFR1, SHH
32positive regulation of mesenchymal cell proliferationGO:00020539.8FGFR1, PRRX1, SHH
33regulation of smoothened signaling pathwayGO:00085899.8GAS1, GLI2, PTCH1
34anatomical structure formation involved in morphogenesisGO:00486469.8GLI2, NODAL, SHH
35cell fate commitmentGO:00451659.8GAS1, NODAL, SHH
36developmental growthGO:00485899.8GAS1, GLI2, SHH
37positive regulation of neuron differentiationGO:00456669.7CDON, FGFR1, GLI2
38anterior/posterior pattern specificationGO:00099529.6CDON, GLI2, NODAL, SHH
39in utero embryonic developmentGO:00017019.6FGFR1, GLI2, NODAL, PTCH1
40embryonic limb morphogenesisGO:00303269.4FGFR1, PRRX1, PTCH1, SHH
41embryonic pattern specificationGO:00098809.3DISP1, NODAL, SHH
42regulation of cell proliferationGO:00421279.3DHCR7, FGFR1, PTCH1, SHH, SIX3
43pattern specification processGO:00073899.2DISP1, GLI2, PTCH1, SHH
44lung developmentGO:00303249.2DHCR7, FGFR1, GLI2, NODAL, SHH
45determination of left/right symmetryGO:00073689.1DISP1, NODAL, SHH
46brain developmentGO:00074209.0FGFR1, NODAL, PTCH1, SIX3, ZIC2
47dorsal/ventral pattern formationGO:00099539.0DISP1, GLI2, PTCH1, SHH
48smoothened signaling pathwayGO:00072248.9CDON, DISP1, GLI2, PTCH1, SHH
49positive regulation of transcription from RNA polymerase II promoterGO:00459448.4CDON, GLI2, NODAL, PRRX1, SHH, SIX3
50negative regulation of transcription from RNA polymerase II promoterGO:00001227.7FGFR1, GLI2, NODAL, PRRX1, PTCH1, SHH

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

idNameGO IDScoreTop Affiliating Genes
1patched bindingGO:00051139.9PTCH1, SHH
2morphogen activityGO:00160159.5NODAL, SHH

Sources for Holoprosencephaly

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2CDC
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