MCID: HLP001
MIFTS: 63

Holoprosencephaly malady

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

Aliases & Classifications for Holoprosencephaly

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Sources:
32LifeMap Discovery®, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Holoprosencephaly:

Name: Holoprosencephaly 32 10 21 45 22 46 47 12 51 36 24
Holoprosencephaly Sequence 10 24
 
Hpe 45 51

Characteristics:

Orphanet epidemiological data:

51
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 Ontology10 DOID:4621
ICD1027 Q04.2
MeSH36 D016142
NCIt42 C74988
SNOMED-CT59 30915001, 44519006
Orphanet51 2162
UMLS via Orphanet66 C0079541
ICD10 via Orphanet28 Q04.2
MESH via Orphanet37 D016142
UMLS65 C0079541

Summaries for Holoprosencephaly

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NIH Rare Diseases:45 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 alobar holoprosencephaly, 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 Hedgehog Pathway. Affiliated tissues include brain, eye and lung, and related mouse phenotypes are no phenotypic analysis and renal/urinary system.

Disease Ontology:10 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:46 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:68 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 171)
idRelated DiseaseScoreTop Affiliating Genes
1agnathia-otocephaly complex31.6FGF8, GLI2, NODAL, SHH
2alobar holoprosencephaly30.5CDON, FGF8, GLI2, NODAL, PTCH1, SHH
3currarino syndrome30.2LSS, SHH
4nonsyndromic holoprosencephaly12.1
5semilobar holoprosencephaly12.1
6lobar holoprosencephaly12.0
7holoprosencephaly 1112.0
8microform holoprosencephaly12.0
9septopreoptic holoprosencephaly12.0
10holoprosencephaly caudal dysgenesis11.9
11holoprosencephaly-hypokinesia-congenital contractures syndrome11.9
12midline interhemispheric variant of holoprosencephaly11.9
13holoprosencephaly, recurrent infections, and monocytosis11.9
14gli2-related holoprosencephaly11.9
15hpe6-related holoprosencephaly11.9
16shh-related holoprosencephaly11.9
17cdon-related holoprosencephaly11.8
18ptch1-related holoprosencephaly11.8
19six3-related holoprosencephaly11.8
20tgif1-related holoprosencephaly11.8
21zic2-related holoprosencephaly11.8
22hpe8-related holoprosencephaly11.8
23nodal-related holoprosencephaly11.8
24congenital nasal pyriform aperture stenosis with holoprosencephaly11.8
25holoprosencephaly ectrodactyly cleft lip palate11.7
26microcephaly, holoprosencephaly, and intrauterine growth retardation11.7
27foxh1-related holoprosencephaly11.7
28holoprosencephaly-postaxial polydactyly syndrome11.7
29genoa syndrome11.7
30hartsfield syndrome11.5
31holoprosencephaly-911.4
32holoprosencephaly-311.3
33holoprosencephaly-711.3
34holoprosencephaly-211.3
35holoprosencephaly-511.3
36holoprosencephaly-411.3
37steinfeld syndrome11.2
38dysgnathia complex11.2
39pseudotrisomy 13 syndrome11.1
40chromosome 1q41-q42 deletion syndrome10.8
41morse-rawnsley-sargent syndrome10.8
42hartsfield-bixler-demyer syndrome10.8
43familial schizencephaly, six3-related10.7SHH, SIX3
44microphthalmia with coloboma 510.7SHH, SIX3
45holzgreve syndrome10.6GLI2, SIX3
46calloso-genital dysplasia10.5GLI2, PTCH1
47syndactyly, type iv10.5LSS, SHH
48hypoplastic or aplastic tibia with polydactyly10.5LSS, SHH
49thrombophlebitis10.5GLI2, PTCH1
50schizencephaly10.5

Graphical network of the top 20 diseases related to Holoprosencephaly:



Diseases related to holoprosencephaly

Symptoms for Holoprosencephaly

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Symptoms:

 51 (show all 90)
  • facial dysmorphism
  • anomalies of mouth, lip and philtrum
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft lip and palate
  • solitary median incisor
  • structural anomalies of the nervous system
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • autosomal dominant inheritance
  • stillbirth/neonatal death
  • microcephaly
  • hypotelorism
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • cyclopia
  • coloboma of iris
  • flattened nose
  • choanal atresia
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • anodontia/oligodontia/hypodontia
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • diabetes mellitus
  • hypoglycemia
  • corpus callosum/septum pellucidum total/partial agenesis
  • dystonia/torticollis/writer's cramp/blepharospasms
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • muscle weakness/flaccidity
  • skull/cranial anomalies
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • brachycephaly/flat occiput
  • frontal bossing/prominent forehead
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • deepset eyes/enophthalmos
  • flat cheek bones/malar hypoplasia
  • retinoschisis/retinal/chorioretinal coloboma
  • retinopathy
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • thick/bushy eyebrows
  • synophris/synophrys
  • high arched eyebrows
  • ptosis
  • blepharophimosis/short palpebral fissures
  • epicanthic folds
  • nasal atrophy/hypoplasia/arhinia/rudimentary nose
  • single nare/abouphalia
  • anteverted nares/nostrils
  • short columella/depressed nasal tip
  • philtrum flat/large/featureless/absent cupidon bows
  • external ear anomalies
  • antihelix anomaly
  • tragus abnormal/absent
  • branchial archs anomalies
  • short neck
  • scoliosis
  • abnormal vertebral size/shape
  • omphalocele/exomphalos
  • short hand/brachydactyly
  • upper limb polydactyly/hexadactyly
  • talipes-varus/metatarsal varus
  • intestinal atresia/stenosis/absence/agenesis/hypoplasia (excludes duodenum)
  • constipation
  • asplenia/polysplenia/spleen lobulation/accessory spleen
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • diaphragmatic hernia/defect/agenesis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • pulmonary valve atresia/stenosis/narrowing
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • tetralogy of fallot/trilogy of fallot
  • ventricular septal defect/interventricular communication
  • cardiac rhythm disorder/arrhythmia
  • bladder and ureter anomalies
  • proteinuria
  • micropenis/small penis/agenesis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • diabetes insipidus
  • neural tube defect
  • encephalocele/exencephaly
  • hydrocephaly
  • dandy-walker anomaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • motor deficit/trouble
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • hyperextensible joints/articular hyperlaxity
  • hypernatremia
  • total/partial trisomy/duplication
  • failure to thrive/difficulties for feeding in infancy/growth delay

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 cyclopia HP:0009914
78 median cleft lip and palate HP:0008501
79 alobar holoprosencephaly HP:0006988
80 facial cleft HP:0002006
81 hypoglycemia HP:0001943
82 seizures HP:0001250
83 adrenal hypoplasia HP:0000835
84 hypotelorism HP:0000601
85 micropenis HP:0000054

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 Holoprosencephaly22 ZIC2

Anatomical Context for Holoprosencephaly

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MalaCards organs/tissues related to Holoprosencephaly:

33
Brain, Eye, Lung, Pituitary, Bone, Heart, Spleen

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:

38 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.1FGFR1, GLI2, LRP2, NODAL, PTCH1, SHH
2MP:00053677.9DHCR7, FGF8, FGFR1, LRP2, PTCH1, SHH
3MP:00053797.7FGF8, FGFR1, GLI2, LRP2, MNX1, PTCH1
4MP:00028737.7FGF8, FGFR1, GLI2, MNX1, NODAL, PTCH1
5MP:00053777.4FGF8, FGFR1, GLI2, LRP2, SHH, TGIF1
6MP:00053897.3FGF8, FGFR1, GLI2, LRP2, NODAL, PTCH1
7MP:00053697.0DHCR7, FGF8, FGFR1, GLI2, MNX1, NODAL
8MP:00053917.0CDON, FGF8, FGFR1, GLI2, LRP2, NODAL
9MP:00053716.9CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2
10MP:00053886.7CDON, DHCR7, FGF8, GLI2, LRP2, MNX1
11MP:00053806.6CDON, FGF8, FGFR1, GLI2, LRP2, NODAL
12MP:00053846.4CDON, FGF8, FGFR1, GLI2, LRP2, MNX1
13MP:00053826.1CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2
14MP:00053866.0CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2
15MP:00053765.9DHCR7, FGF8, FGFR1, GLI2, LRP2, LSS
16MP:00053815.9CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2
17MP:00053855.7CDON, DHCR7, FGF8, FGFR1, LRP2, MNX1
18MP:00053905.3CDON, FGF8, FGFR1, GLI2, LRP2, MNX1
19MP:00036315.2CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2
20MP:00053784.9CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2
21MP:00107684.6CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2

Publications for Holoprosencephaly

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Articles related to Holoprosencephaly:

(show top 50)    (show all 610)
idTitleAuthorsYear
1
Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice. (25468951)
2015
2
Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism. (24706429)
2014
3
Cyclopia, proboscis and alobar holoprosencephaly representative for trisomy 13. (25365860)
2014
4
Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects. (24091065)
2014
5
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. (25218063)
2014
6
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. (23812909)
2013
7
Holoprosencephaly: report of four cases and genotype-phenotype correlations. (23640411)
2013
8
Thick corpus callosum: a clue to the diagnosis of fetal septopreoptic holoprosencephaly? (22006531)
2012
9
Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly. (23692731)
2012
10
Duplication of the ZIC2 gene is not associated with holoprosencephaly. (22105922)
2012
11
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. (21204232)
2011
12
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
13
Two cases of single-stage lip and nostril reconstruction in holoprosencephaly. (21470822)
2011
14
Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation. (20104607)
2010
15
Clinical image. Middle interhemispheric variant of holoprosencephaly. (19997726)
2010
16
Moebius syndrome and holoprosencephaly following exposure to misoprostol. (20933185)
2010
17
Sonographic diagnosis of brain malformations, part 2: holoprosencephaly - hydranencephaly - agenesis of septum pellucidum - schizencephaly - septo-optical dysplasia. (21117007)
2010
18
Lobar holoprosencephaly with a median cleft: case report. (19929095)
2009
19
Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder. (18049080)
2008
20
Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly. (18694563)
2008
21
Prenatal MRI image of a fetus with semilobar holoprosencephaly. (21654965)
2008
22
Holoprosencephaly: an antenatally-diagnosed case series and subject review. (18695774)
2008
23
Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation. (18617531)
2008
24
Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly. (18338389)
2008
25
A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma. (17497722)
2007
26
A mechanism for mutational inactivation of the homeodomain protein TGIF in holoprosencephaly. (17158784)
2007
27
Factor analysis of neuroanatomical and clinical characteristics of holoprosencephaly. (16503393)
2006
28
Links between abnormal brain structure and cognition in holoprosencephaly. (17138007)
2006
29
White matter imaging in holoprosencephaly in children. (15021236)
2004
30
Identification of unexpected parental Robertsonian (13q;14q) translocations following prenatal sonographic detection of holoprosencephaly. (12230460)
2002
31
Apolipoprotein B and apolipoprotein E genotypes and sporadic holoprosencephaly. (11857554)
2002
32
Mosaic trisomy 9 and lobar holoprosencephaly. (12210326)
2002
33
Hypodipsia-hypernatremia syndrome associated with holoprosencephaly in a child: a case report. (12405444)
2002
34
Prenatal diagnosis of agnathia-holoprosencephaly: three-dimensional imaging by helical computed tomography. (11180246)
2001
35
Problems in the definition of holoprosencephaly. (11745988)
2001
36
Holoprosencephaly: the Maastricht experience. (11693794)
2001
37
The interaction of the carboxyl terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIF. (10995736)
2000
38
Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. (10820408)
2000
39
Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses. (10340655)
1999
40
Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. (10441331)
1999
41
Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. (9602489)
1998
42
Abnormal chromosome 18 in prenatal diagnosis with holoprosencephaly. (9316141)
1997
43
Midline interhemispheric fusion associated with atypical callosal dysgenesis: a mild type of holoprosencephaly. (8826753)
1996
44
Anterior callosal agenesis in mild, lobar holoprosencephaly. (7567274)
1995
45
Disorders of midline structures: holoprosencephaly, absence of corpus callosum, and Chiari malformations. (3078668)
1988
46
Aicardi syndrome with holoprosencephaly and cleft lip and palate. (3508052)
1987
47
Semilobar holoprosencephaly: embryologic, CSF dynamics and radiological considerations. (3962751)
1986
48
Acalvaria, holoprosencephaly, and facial dysmorphism syndrome. (3491120)
1986
49
FAMILIAL ALOBAR HOLOPROSENCEPHALY (ARHINENCEPHALY) WITH MEDIAN CLEFT LIP AND PALATE. REPORT OF PATIENT WITH 46 CHROMOSOMES. (14079950)
1963
50

Variations for Holoprosencephaly

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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 53)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of T cell differentiation in thymusGO:003308910.6GLI2, SHH
2telencephalon regionalizationGO:002197810.6SHH, SIX3
3anatomical structure developmentGO:004885610.6GLI2, SHH
4dorsal/ventral neural tube patterningGO:002190410.5GLI2, SHH
5somite developmentGO:006105310.5PTCH1, SHH
6embryonic organ developmentGO:004856810.5PTCH1, SHH
7striated muscle cell differentiationGO:005114610.5CDON, SHH
8mammary gland duct morphogenesisGO:006060310.5GLI2, PTCH1
9regulation of smoothened signaling pathwayGO:000858910.5GLI2, PTCH1
10spinal cord motor neuron differentiationGO:002152210.4GLI2, PTCH1
11developmental growthGO:004858910.4GLI2, SHH
12cell fate specificationGO:000170810.4CDON, SHH
13digestive tract morphogenesisGO:004854610.4NODAL, SHH
14lung-associated mesenchyme developmentGO:006048410.3FGFR1, SHH
15positive regulation of protein import into nucleusGO:004230710.3SHH, ZIC1
16branching morphogenesis of an epithelial tubeGO:004875410.3GLI2, SHH
17forebrain dorsal/ventral pattern formationGO:002179810.2FGF8, SIX3
18patterning of blood vesselsGO:000156910.2FGF8, SHH
19dorsal/ventral pattern formationGO:000995310.2GLI2, PTCH1, SHH
20dopaminergic neuron differentiationGO:007154210.1FGF8, SHH
21lens development in camera-type eyeGO:000208810.1CDON, SIX3
22embryonic hindlimb morphogenesisGO:003511610.1FGF8, SHH
23negative regulation of Wnt signaling pathwayGO:003017810.1SHH, SIX3
24cell developmentGO:004846810.1NODAL, SHH
25embryonic pattern specificationGO:000988010.1NODAL, SHH
26odontogenesisGO:004247610.1FGF8, SHH
27vasculature developmentGO:000194410.1NODAL, SHH
28smoothened signaling pathwayGO:000722410.0CDON, GLI2, SHH
29organ inductionGO:000175910.0FGF8, FGFR1
30metanephros developmentGO:000165610.0FGF8, SHH
31central nervous system neuron developmentGO:002195410.0FGF8, FGFR1
32generation of neuronsGO:00486999.9FGF8, FGFR1
33embryonic heart tube developmentGO:00350509.9FGF8, NODAL
34in utero embryonic developmentGO:00017019.8GLI2, NODAL, PTCH1
35branching involved in ureteric bud morphogenesisGO:00016589.8FGF8, PTCH1, SHH
36positive regulation of transcription, DNA-templatedGO:00458939.7GLI2, SHH, ZIC1, ZIC2
37kidney developmentGO:00018229.7FGF8, GLI2, SHH
38pattern specification processGO:00073899.7GLI2, PTCH1, SHH, ZIC1
39heart loopingGO:00019479.6FGF8, NODAL, SHH
40anterior/posterior pattern specificationGO:00099529.6CDON, GLI2, NODAL, SHH
41cell fate commitmentGO:00451659.5FGF8, NODAL, SHH
42determination of left/right symmetryGO:00073689.5FGF8, NODAL, SHH
43heart developmentGO:00075079.4FGF8, NODAL, SHH
44branching involved in salivary gland morphogenesisGO:00604459.4FGF8, FGFR1, SHH
45anatomical structure formation involved in morphogenesisGO:00486469.4NODAL, SHH
46regulation of cell proliferationGO:00421279.4DHCR7, PTCH1, SHH, SIX3
47brain developmentGO:00074209.0FGFR1, NODAL, PTCH1
48lung developmentGO:00303248.7FGF8, FGFR1, NODAL, SHH
49positive regulation of transcription from RNA polymerase II promoterGO:00459448.5CDON, GLI2, NODAL, SHH, SIX3, ZIC1
50positive regulation of cell proliferationGO:00082848.4FGF8, FGFR1, GLI2, NODAL, SHH

Sources for Holoprosencephaly

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