MCID: HLP001
MIFTS: 62

Holoprosencephaly 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 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 Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include brain, eye and bone, and related mouse phenotypes are normal and reproductive system.

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:49 Holoprosencephaly is a disorder caused by the failure of the

Wikipedia:71 Holoprosencephaly (HPE, once known as arhinencephaly) is a cephalic disorder in which the prosencephalon... 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 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 160)
idRelated DiseaseScoreTop Affiliating Genes
1agnathia-otocephaly complex31.9FGF8, GLI2, PRRX1, SHH
2currarino syndrome29.7LSS, SHH
3neural tube defects28.6MNX1, PTCH1, ZIC1, ZIC2
4hydrocephalus26.8CDON, DHCR7, FGFR1, GLI2, LSS, PRRX1
5nonsyndromic holoprosencephaly12.2
6holoprosencephaly, semilobar, with craniosynostosis12.1
7semilobar holoprosencephaly12.0
8holoprosencephaly 1112.0
9lobar holoprosencephaly12.0
10alobar holoprosencephaly11.9
11septopreoptic holoprosencephaly11.9
12holoprosencephaly with fetal akinesia/hypokinesia sequence11.8
13holoprosencephaly caudal dysgenesis11.8
14midline interhemispheric variant of holoprosencephaly11.8
15hartsfield syndrome11.8
16hpe6-related holoprosencephaly11.8
17holoprosencephaly, recurrent infections, and monocytosis11.8
18gli2-related holoprosencephaly11.7
19shh-related holoprosencephaly11.7
20cdon-related holoprosencephaly11.7
21ptch1-related holoprosencephaly11.7
22six3-related holoprosencephaly11.7
23tgif1-related holoprosencephaly11.7
24zic2-related holoprosencephaly11.7
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-911.6
32holoprosencephaly-311.5
33holoprosencephaly-711.5
34holoprosencephaly-211.5
35holoprosencephaly-511.5
36holoprosencephaly-411.5
37pseudotrisomy 13 syndrome11.1
38steinfeld syndrome11.1
39dysgnathia complex11.1
40schizencephaly11.1
41single median maxillary central incisor11.0
42mental retardation, x-linked syndromic, turner type10.7
43heterotaxy, visceral, 1, x-linked10.7
44hypoglossia with situs inversus hypoglossia, isolated, included10.7
45cerebellar agenesis10.7
46chromosome 1q41-q42 deletion syndrome10.6
47morse-rawnsley-sargent syndrome10.6
48familial thrombotic thrombocytopenia purpura10.6SHH, SIX3
49camera marugo cohen syndrome10.4GLI2, PTCH1
50major affective disorder 110.4SHH, SIX3, ZIC2

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:

 64 54 (show all 107)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 holoprosencephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0001360
2 abnormal facial shape64 54 hallmark (90%) Very frequent (99-80%) HP:0001999
3 single median maxillary incisor64 54 hallmark (90%) Very frequent (99-80%) HP:0006315
4 non-midline cleft lip64 hallmark (90%) HP:0100335
5 microcephaly64 54 typical (50%) Frequent (79-30%) HP:0000252
6 choanal atresia64 54 typical (50%) Frequent (79-30%) HP:0000453
7 depressed nasal ridge64 54 typical (50%) Frequent (79-30%) HP:0000457
8 hypotelorism64 54 typical (50%) Frequent (79-30%) HP:0000601
9 iris coloboma64 54 typical (50%) Frequent (79-30%) HP:0000612
10 diabetes mellitus64 54 typical (50%) Frequent (79-30%) HP:0000819
11 seizures64 54 typical (50%) Frequent (79-30%) HP:0001250
12 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
13 hypertonia64 typical (50%) HP:0001276
14 muscle weakness64 54 typical (50%) Frequent (79-30%) HP:0001324
15 hypoglycemia64 54 typical (50%) Frequent (79-30%) HP:0001943
16 abnormality of the sense of smell64 typical (50%) HP:0004408
17 aplasia/hypoplasia of the corpus callosum64 54 typical (50%) Frequent (79-30%) HP:0007370
18 aplasia/hypoplasia affecting the eye64 typical (50%) HP:0008056
19 reduced number of teeth64 54 typical (50%) Frequent (79-30%) HP:0009804
20 cyclopia64 54 typical (50%) Frequent (79-30%) HP:0009914
21 cognitive impairment64 54 typical (50%) Frequent (79-30%) HP:0100543
22 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
23 proteinuria64 54 occasional (7.5%) Occasional (29-5%) HP:0000093
24 hydrocephalus64 54 occasional (7.5%) Occasional (29-5%) HP:0000238
25 macrocephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000256
26 epicanthus64 54 occasional (7.5%) Occasional (29-5%) HP:0000286
27 abnormality of the philtrum64 occasional (7.5%) HP:0000288
28 hypertelorism64 54 occasional (7.5%) Occasional (29-5%) HP:0000316
29 anteverted nares64 54 occasional (7.5%) Occasional (29-5%) HP:0000463
30 short neck64 54 occasional (7.5%) Occasional (29-5%) HP:0000470
31 retinopathy64 54 occasional (7.5%) Occasional (29-5%) HP:0000488
32 deeply set eye64 54 occasional (7.5%) Occasional (29-5%) HP:0000490
33 ptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000508
34 chorioretinal coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000567
35 thick eyebrow64 54 occasional (7.5%) Occasional (29-5%) HP:0000574
36 blepharophimosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000581
37 upslanted palpebral fissure64 54 occasional (7.5%) Occasional (29-5%) HP:0000582
38 optic atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0000648
39 synophrys64 54 occasional (7.5%) Occasional (29-5%) HP:0000664
40 congenital diaphragmatic hernia64 54 occasional (7.5%) Occasional (29-5%) HP:0000776
41 anterior hypopituitarism64 54 occasional (7.5%) Occasional (29-5%) HP:0000830
42 diabetes insipidus64 54 occasional (7.5%) Occasional (29-5%) HP:0000873
43 brachydactyly syndrome64 54 occasional (7.5%) Occasional (29-5%) HP:0001156
44 hand polydactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001161
45 dandy-walker malformation64 54 occasional (7.5%) Occasional (29-5%) HP:0001305
46 joint hypermobility64 occasional (7.5%) HP:0001382
47 omphalocele64 54 occasional (7.5%) Occasional (29-5%) HP:0001539
48 ventricular septal defect64 54 occasional (7.5%) Occasional (29-5%) HP:0001629
49 tetralogy of fallot64 54 occasional (7.5%) Occasional (29-5%) HP:0001636
50 abnormality of the pulmonary valve64 54 occasional (7.5%) Occasional (29-5%) HP:0001641
51 abnormality of the aorta64 54 occasional (7.5%) Occasional (29-5%) HP:0001679
52 abnormality of the spleen64 54 occasional (7.5%) Occasional (29-5%) HP:0001743
53 talipes64 54 occasional (7.5%) Occasional (29-5%) HP:0001883
54 frontal bossing64 54 occasional (7.5%) Occasional (29-5%) HP:0002007
55 constipation64 54 occasional (7.5%) Occasional (29-5%) HP:0002019
56 chorea64 54 occasional (7.5%) Occasional (29-5%) HP:0002072
57 encephalocele64 54 occasional (7.5%) Occasional (29-5%) HP:0002084
58 respiratory insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0002093
59 abnormality of neuronal migration64 54 occasional (7.5%) Occasional (29-5%) HP:0002269
60 highly arched eyebrow64 54 occasional (7.5%) Occasional (29-5%) HP:0002553
61 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
62 abnormality of chromosome segregation64 occasional (7.5%) HP:0002916
63 hypernatremia64 occasional (7.5%) HP:0003228
64 abnormal form of the vertebral bodies64 54 occasional (7.5%) Occasional (29-5%) HP:0003312
65 aplasia/hypoplasia of the lungs64 54 occasional (7.5%) Occasional (29-5%) HP:0006703
66 aplasia/hypoplasia of the cerebellum64 54 occasional (7.5%) Occasional (29-5%) HP:0007360
67 external ear malformation64 54 occasional (7.5%) Occasional (29-5%) HP:0008572
68 hypoplasia of penis64 54 occasional (7.5%) Occasional (29-5%) HP:0008736
69 abnormality of the antihelix64 54 occasional (7.5%) Occasional (29-5%) HP:0009738
70 branchial anomaly64 54 occasional (7.5%) Occasional (29-5%) HP:0009794
71 abnormality of the tragus64 occasional (7.5%) HP:0009912
72 aplasia/hypoplasia involving the nose64 54 occasional (7.5%) Occasional (29-5%) HP:0009924
73 spinal dysraphism64 54 occasional (7.5%) Occasional (29-5%) HP:0010301
74 hypoplasia of the zygomatic bone64 occasional (7.5%) HP:0010669
75 arrhythmia64 54 occasional (7.5%) Occasional (29-5%) HP:0011675
76 absent nares64 54 occasional (7.5%) Occasional (29-5%) HP:0100596
77 micropenis64 HP:0000054
78 adrenal hypoplasia64 HP:0000835
79 facial cleft64 HP:0002006
80 alobar holoprosencephaly64 HP:0006988
81 median cleft lip and palate64 54 Very frequent (99-80%) HP:0008501
82 abnormality of the urinary system54 Occasional (29-5%)
83 median cleft lip54 Very frequent (99-80%)
84 broad philtrum54 Occasional (29-5%)
85 macrotia54 Occasional (29-5%)
86 depressed nasal tip54 Occasional (29-5%)
87 anosmia54 Frequent (79-30%)
88 anophthalmia54 Frequent (79-30%)
89 microphthalmia54 Frequent (79-30%)
90 panhypopituitarism54 Occasional (29-5%)
91 abnormality of the skull54 Occasional (29-5%)
92 spasticity54 Frequent (79-30%)
93 global developmental delay54 Frequent (79-30%)
94 dystonia54 Frequent (79-30%)
95 failure to thrive in infancy54 Occasional (29-5%)
96 deep philtrum54 Occasional (29-5%)
97 gastroesophageal reflux54 Frequent (79-30%)
98 hyponatremia54 Occasional (29-5%)
99 hyposmia54 Frequent (79-30%)
100 flat occiput54 Occasional (29-5%)
101 joint hyperflexibility54 Occasional (29-5%)
102 feeding difficulties in infancy54 Occasional (29-5%)
103 spinal cord tumor54 Occasional (29-5%)
104 cheekbone underdevelopment54 Occasional (29-5%)
105 intestinal atresia54 Occasional (29-5%)
106 abnormality of nervous system morphology54 Very frequent (99-80%)
107 bilateral cleft lip54 Very frequent (99-80%)

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

41 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.1FGF8, FGFR1, GLI2, MNX1, PTCH1, SHH
2MP:00053897.9FGF8, FGFR1, GLI2, LRP2, PTCH1, SHH
3MP:00053777.8FGF8, FGFR1, GLI2, LRP2, PRRX1, SHH
4MP:00053697.8DHCR7, FGF8, FGFR1, GLI2, MNX1, PTCH1
5MP:00053677.7DHCR7, FGF8, FGFR1, LRP2, PTCH1, SHH
6MP:00053797.7FGF8, FGFR1, GLI2, LRP2, MNX1, PTCH1
7MP:00053847.1CDON, FGF8, FGFR1, GLI2, LRP2, MNX1
8MP:00053917.0CDON, FGF8, FGFR1, GLI2, LRP2, PRRX1
9MP:00053886.7CDON, DHCR7, FGF8, GLI2, LRP2, MNX1
10MP:00053806.6CDON, FGF8, FGFR1, GLI2, LRP2, PRRX1
11MP:00053716.4CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2
12MP:00053826.3CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2
13MP:00053855.8CDON, DHCR7, FGF8, FGFR1, LRP2, MNX1
14MP:00053905.7CDON, FGF8, FGFR1, GLI2, LRP2, MNX1
15MP:00053765.7DHCR7, FGF8, FGFR1, GLI2, LRP2, LSS
16MP:00053865.4CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2
17MP:00053815.4CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2
18MP:00053785.1CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2
19MP:00036315.1CDON, DHCR7, FGF8, FGFR1, GLI2, LRP2
20MP:00107684.7CDON, DHCR7, FGF8, FGFR1, 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, Bone, Cerebellum, Pituitary, 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 619)
idTitleAuthorsYear
1
Facial Evaluation in Holoprosencephaly. (27875510)
2017
2
Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling. (27466203)
2016
3
Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report. (27998308)
2016
4
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing. (26748417)
2016
5
Holoprosencephaly: antenatal and postnatal diagnosis and outcome. (26767839)
2016
6
Monozygotic twins with de novo ZIC2 gene mutations discordant for the type of holoprosencephaly. (26962069)
2016
7
Gli2 gene dosage and gene-environment interaction illuminate the etiological complexity of holoprosencephaly. (27585885)
2016
8
Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence. (28050387)
2016
9
Six3 dosage mediates the pathogenesis of holoprosencephaly. (27770010)
2016
10
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. (27363716)
2016
11
Case 236: Middle Interhemispheric Variant of Holoprosencephaly. (27870630)
2016
12
Holoprosencephaly and Pure Red Cell Aplasia in a Feline Leukaemia Virus-Positive Kitten. (26897097)
2016
13
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. (26728615)
2016
14
Impact of holoprosencephaly, exomphalos, megacystis and high NT in first trimester screening for chromosomal abnormalities. (27558969)
2016
15
Adult with Middle Interhemispheric Variant of Holoprosencephaly: Neuropsychological, Clinical, and Radiological Findings. (27235161)
2016
16
The middle interhemispheric variant of holoprosencephaly: magnetic resonance and diffusion tensor imaging findings. (27089898)
2016
17
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. (25590404)
2015
18
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
19
Variant course of bilateral anterior cerebral artery in semilobar holoprosencephaly. (26027553)
2015
20
Middle interhemispheric variant of holoprosencephaly: A rare midline malformation. (26557166)
2015
21
Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly. (25569381)
2015
22
Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development. (26018729)
2015
23
Lip Repair Surgery for Bilateral Cleft Lip and Palate in a Patient Diagnosed with Trisomy 13 and Holoprosencephaly. (26150185)
2015
24
Semilobar Holoprosencephaly Associated with Multiple Malformations in a Foal. (25712180)
2015
25
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
26
Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate. (26495165)
2015
27
Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice. (25468951)
2015
28
Middle Interhemispheric Variant of Holoprosencephaly - Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus. (26500966)
2015
29
Correlation of bispectral index (BIS) monitoring and end-tidal sevoflurane concentration in a patient with lobar holoprosencephaly. (26323737)
2015
30
Definition of critical periods for hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate. (25793997)
2015
31
ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS. (26625663)
2015
32
A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype. (25820550)
2015
33
Alobar holoprosencephaly, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome. (27086438)
2015
34
Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings. (25658757)
2015
35
Holoprosencephaly with agenesia of the prosencephalic ventricle. (26785373)
2015
36
Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother. (26155468)
2015
37
Early two-stage repair of clefts in holoprosencephaly. (25976037)
2015
38
In Utero MR Imaging of Fetal Holoprosencephaly: A Structured Approach to Diagnosis and Classification. (26564444)
2015
39
Successful management of discordant alobar holoprosencephaly in monochorionic diamniotic twins with normal karyotype: a case report. (25864296)
2015
40
Prenatal findings of holoprosencephaly. (25620469)
2015
41
Proboscis Lateralis : A Rare Bilateral Case in Association with Holoprosencephaly. (26436002)
2015
42
Absence of the lateral and third ventricles associated with holoprosencephaly. (26417484)
2015
43
Cyclopia, proboscis and alobar holoprosencephaly representative for trisomy 13. (25365860)
2014
44
Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects. (24091065)
2014
45
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. (25218063)
2014
46
Biparietal diameter-to-crown-rump length disproportion in first-trimester fetuses with holoprosencephaly. (24958402)
2014
47
Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene. (24677696)
2014
48
Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans. (25339593)
2014
49
Molecular analysis of holoprosencephaly in South America. (24764759)
2014
50
Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34. (25454392)
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 53)
idNameGO IDScoreTop Affiliating Genes
1anatomical structure developmentGO:004885610.7GLI2, SHH
2anatomical structure formation involved in morphogenesisGO:004864610.7GLI2, SHH
3hindbrain developmentGO:003090210.7GLI2, SHH
4hindgut morphogenesisGO:000744210.7GLI2, SHH
5cell fate specificationGO:000170810.7CDON, SHH
6embryonic morphogenesisGO:004859810.7CDON, SHH
7osteoblast developmentGO:000207610.7GLI2, SHH
8positive regulation of T cell differentiation in thymusGO:003308910.7GLI2, SHH
9mammary gland duct morphogenesisGO:006060310.7GLI2, PTCH1
10positive regulation of skeletal muscle tissue developmentGO:004864310.6CDON, SHH
11positive regulation of protein import into nucleusGO:004230710.6SHH, ZIC1
12lung-associated mesenchyme developmentGO:006048410.6FGFR1, SHH
13renal system developmentGO:007200110.5PTCH1, SHH
14positive regulation of smoothened signaling pathwayGO:004588010.4PRRX1, SHH
15smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:002193810.4GLI2, SHH
16somite developmentGO:006105310.4PTCH1, SHH
17dorsal/ventral neural tube patterningGO:002190410.4GLI2, PTCH1, SHH
18dorsal/ventral pattern formationGO:000995310.4GLI2, PTCH1, SHH
19smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:006083110.4GLI2, PTCH1
20spinal cord dorsal/ventral patterningGO:002151310.4GLI2, SHH
21cell proliferation in forebrainGO:002184610.4FGF8, SIX3
22forebrain dorsal/ventral pattern formationGO:002179810.4FGF8, SIX3
23anterior/posterior pattern specificationGO:000995210.4CDON, GLI2, SHH
24dopaminergic neuron differentiationGO:007154210.4FGF8, SHH
25telencephalon regionalizationGO:002197810.4SHH, SIX3
26lung morphogenesisGO:006042510.4FGF8, SHH
27male genitalia developmentGO:003053910.4FGF8, SHH
28limb morphogenesisGO:003510810.3FGF8, PTCH1
29pharyngeal system developmentGO:006003710.3FGF8, PTCH1
30striated muscle cell differentiationGO:005114610.3CDON, SHH
31middle ear morphogenesisGO:004247410.3FGFR1, PRRX1
32generation of neuronsGO:004869910.2FGF8, FGFR1
33organ inductionGO:000175910.2FGF8, FGFR1
34positive regulation of neuron differentiationGO:004566610.2CDON, FGFR1, GLI2
35regulation of smoothened signaling pathwayGO:000858910.1GLI2, PTCH1, ZIC1
36branching involved in ureteric bud morphogenesisGO:000165810.1FGF8, PTCH1, SHH
37spinal cord motor neuron differentiationGO:002152210.1GLI2, PTCH1, SHH
38kidney developmentGO:000182210.1FGF8, GLI2, SHH
39positive regulation of mesenchymal cell proliferationGO:000205310.0FGFR1, PRRX1, SHH
40pattern specification processGO:000738910.0GLI2, PTCH1, SHH, ZIC1
41branching involved in salivary gland morphogenesisGO:006044510.0FGF8, FGFR1, SHH
42ventral midline developmentGO:00074189.9GLI2, SHH
43smoothened signaling pathwayGO:00072249.8CDON, GLI2, PTCH1, SHH
44embryonic limb morphogenesisGO:00303269.8FGFR1, PRRX1, PTCH1, SHH
45brain developmentGO:00074209.7FGFR1, PTCH1, SIX3, ZIC1, ZIC2
46positive regulation of transcription, DNA-templatedGO:00458939.7GLI2, PTCH1, SHH, ZIC1, ZIC2
47thyroid gland developmentGO:00308789.6FGF8, SHH
48regulation of cell proliferationGO:00421279.5DHCR7, FGFR1, PTCH1, SHH, SIX3
49inner ear morphogenesisGO:00424729.3FGF8, FGFR1, PRRX1, ZIC1
50lung developmentGO:00303249.3DHCR7, FGF8, FGFR1, GLI2, SHH

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

idNameGO IDScoreTop Affiliating Genes
1patched bindingGO:000511310.6PTCH1, SHH
2transcription factor activity, sequence-specific DNA bindingGO:00037008.6GLI2, MNX1, SIX3, TGIF1, ZIC1, ZIC2

Sources for Holoprosencephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet