Holoprosencephaly malady

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

Aliases & Classifications for Holoprosencephaly

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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
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Aliases & Descriptions for Holoprosencephaly:

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


Orphanet epidemiological data:

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


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 eye, brain and pituitary, 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 487)
idRelated DiseaseScoreTop Affiliating Genes
1agnathia-otocephaly complex32.4FGF8, GLI2, NODAL, SHH
2alobar holoprosencephaly31.7CDON, FGF8, GLI2, NODAL, PTCH1, SHH
3nonsyndromic holoprosencephaly12.4
4holoprosencephaly 1112.4
5holoprosencephaly caudal dysgenesis12.3
6holoprosencephaly-hypokinesia-congenital contractures syndrome12.3
7semilobar holoprosencephaly12.3
8midline interhemispheric variant of holoprosencephaly12.3
9microform holoprosencephaly12.3
10septopreoptic holoprosencephaly12.3
11lobar holoprosencephaly12.3
12gli2-related holoprosencephaly12.3
13hpe6-related holoprosencephaly12.3
14shh-related holoprosencephaly12.3
15cdon-related holoprosencephaly12.2
16ptch1-related holoprosencephaly12.2
17six3-related holoprosencephaly12.2
18tgif1-related holoprosencephaly12.2
19zic2-related holoprosencephaly12.2
20hpe8-related holoprosencephaly12.2
21nodal-related holoprosencephaly12.2
22congenital nasal pyriform aperture stenosis with holoprosencephaly12.2
23holoprosencephaly ectrodactyly cleft lip palate12.1
24holoprosencephaly, recurrent infections, and monocytosis12.1
25microcephaly, holoprosencephaly, and intrauterine growth retardation12.1
26foxh1-related holoprosencephaly12.1
27holoprosencephaly-postaxial polydactyly syndrome12.1
28genoa syndrome11.9
35hartsfield syndrome11.7
36dysgnathia complex11.3
37steinfeld syndrome11.3
38chromosome 1q41-q42 deletion syndrome11.2
39morse-rawnsley-sargent syndrome11.2
40pseudotrisomy 13 syndrome11.2
41hartsfield-bixler-demyer syndrome11.2
42familial schizencephaly, six3-related10.5SHH, SIX3
43microphthalmia with coloboma 510.4SHH, SIX3
44holzgreve syndrome10.4GLI2, SIX3
45calloso-genital dysplasia10.4GLI2, PTCH1
46syndactyly, type iv10.3LSS, SHH
47hypoplastic or aplastic tibia with polydactyly10.3LSS, SHH
48thrombophlebitis10.3GLI2, PTCH1
49currarino syndrome10.3LSS, SHH

Graphical network of the top 20 diseases related to Holoprosencephaly:

Diseases related to holoprosencephaly

Symptoms for Holoprosencephaly

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 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:

Eye, Brain, Pituitary, Lung, Bone, Spleen, Testes

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 599)
Gall bladder Adenocarcinoma in a Young Girl. (26139973)
I8-Bufarenogin, a novel anti-tumor compound, suppresses liver cancer growth by inhibiting receptor tyrosine kinase-mediated signaling. (25890498)
Hybrid imaging with 99mTc-WBC SPECT/CT to monitor the effect of therapy in diabetic foot osteomyelitis. (25851182)
Granulocyte-macrophage colony-stimulating factor (GM-CSF) is neuroprotective in experimental traumatic brain injury. (24392832)
Accuracy of MRI compared with ultrasound imaging and selective use of CT to discriminate simple from perforated appendicitis. (24272981)
Cancer-associated isocitrate dehydrogenase 1 (IDH1) R132H mutation and d-2-hydroxyglutarate stimulate glutamine metabolism under hypoxia. (24986863)
Influence of periodontal disease on systemic disease: inversion of a paradigm: a review. (23904870)
Hemojuvelin and iron metabolism in kidney and heart allograft recipients. (23375327)
Clinical impact of DNMT3A mutations in younger adult patients with acute myeloid leukemia: results of the AML Study Group (AMLSG). (23632886)
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. (22922411)
Acute neck pain referred to the surgeon: Lemierre's syndrome as a differential diagnosis. (22507711)
KIF14 negatively regulates Rap1a-Radil signaling during breast cancer progression. (23209302)
A distinct role of RhoB in gastric cancer suppression. (20473933)
Cognitive and behavioral complications of frontal lobe epilepsy in children: a review of the literature. (21480882)
Coexistence of generalized morphea and lichen sclerosus et atrophicus mimicking systemic disease. (21548525)
Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration. (21199495)
H2AX phosphorylation in A549 cells induced by the bulky and stable DNA adducts of benzo[a]pyrene and dibenzo[a,l]pyrene diol epoxides. (18848825)
Mammalian heme peroxidases: from molecular mechanisms to health implications. (18331199)
Laparoendoscopic "rendezvous" versus laparoscopic antegrade sphincterotomy for choledocholithiasis. (18707043)
Nephrogenic systemic fibrosis: more questions and some answers. (18688172)
Leukotrien antagonists in the treatment of allergic rhinitis and comorbidities]. (19058495)
A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy. (18031308)
Osmotic demyelination and hypertonic dehydration in a 9-year-old girl: changes in cerebrospinal fluid myelin basic protein. (17095502)
CYP2A6 polymorphisms in Malays, Chinese and Indians. (16891249)
Nucleocytoplasmic shuttling of clock proteins. (15817303)
Ethnic and racial differences in prostate stromal estrogen receptor alpha. (15880569)
S100A1 codistributes with synapsin I in discrete brain areas and inhibits the F-actin-bundling activity of synapsin I. (15147519)
The emerging pathogen Moraxella catarrhalis interacts with complement inhibitor C4b binding protein through ubiquitous surface proteins A1 and A2. (15383594)
Bmp2 antagonizes sonic hedgehog-mediated proliferation of cerebellar granule neurones through Smad5 signalling. (15197161)
Role of a new member of IGFBP superfamily, IGFBP-rP10, in proliferation and differentiation of osteoblastic cells. (15555553)
Non-steroidal anti-inflammatory drugs and molecular carcinogenesis of colorectal carcinomas. (12885487)
The human dopamine D4 receptor repeat sequences modulate expression. (14581929)
Herpes simplex encephalitis: some interesting presentations. (14652453)
Relationship between a novel polymorphism of lipoprotein lipase gene and coronary heart disease. (12133533)
Genomic organization of the interleukin-1 locus. (11991723)
Plasma 5'-nucleotidase activities increase in women with hyperemesis gravidarum. (12493585)
Alveolar macrophage-mediated elastolysis: roles of matrix metalloproteinases, cysteine, and serine proteases. (12225964)
Role of three isoforms of phospholipase A2 in capacitative calcium influx in human T-cells. (12423354)
Up-shoot in adduction has no prognostic value for decompensation in refractive accommodative esotropia. (11584845)
Serum creatine kinase levels in overt and subclinical hypothyroidism. (9848718)
Changes in the midbrain-rostral forebrain dopamine circuitry in the cocaine-exposed primate fetal brain. (9668406)
Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors. (9517456)
Recombinant granulocyte-macrophage colony-stimulating factor in the treatment of HIV-related leucopenia. (7488824)
Linear IgA disease: a heterogeneous disease. (8049564)
Anencephaly with spinal dysraphism, cleft lip and palate and limb reduction defects. (7981865)
Chronic myelogenous leukemia in the lymphoid blastic phase: characteristics, treatment response, and prognosis. (8420302)
Effect of oxytocin infusion on secretion of progesterone and luteinizing hormone and the concentration of uterine oxytocin receptors during the periovulatory period in cloprostenol-treated ewes. (1339845)
Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343. (1985698)
Immunohistochemistry of primitive neuroectodermal tumors in infants with special emphasis on cytokeratin expression. (1723829)

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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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet