Holoprosencephaly malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Endocrine diseases categories

Aliases & Classifications for Holoprosencephaly

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30LifeMap Discovery®, 9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 55SNOMED-CT, 27ICD9CM, 38NCIt, 60UMLS, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet, 25ICD10
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Holoprosencephaly, Aliases & Descriptions:

Name: Holoprosencephaly 30 9 19 41 20 42 11 43 47
Holoprosencephaly Sequence 9 22
Hpe 41 47


Characteristics (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 Ontology9 DOID:4621
ICD9CM27 742.2
NCIt38 C74988
MeSH33 D016142
Orphanet47 2162
SNOMED-CT55 30915001, 44519006
ICD10 via Orphanet26 Q04.2
UMLS via Orphanet61 C0079541
MESH via Orphanet34 D016142
ICD1025 Q04.2

Summaries for Holoprosencephaly

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NIH Rare Diseases:41 Holoprosencephaly is an abnormality of brain development that also affects the head and face. normally, the brain divides into two halves (hemispheres) during early development. holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. there are four types of holoprosencephaly according to the degree of brain division. from most to least severe, the types are known as alobar, semi-lobar, lobar, and middle interhemispheric variant (mihv). the most severely affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. in the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). holoprosencephaly can be caused by mutations in a single gene, chromosome abnormalities, or substances that cause birth defects (teratogens). last updated: 9/30/2010

MalaCards based summary: Holoprosencephaly, also known as holoprosencephaly sequence, is related to semilobar holoprosencephaly and lobar holoprosencephaly, and has symptoms including holoprosencephaly, abnormal facial shape and single median maxillary incisor. An important gene associated with Holoprosencephaly is SIX3 (SIX homeobox 3), and among its related pathways are Glypican 3 network and Signaling by NODAL. The compounds 20(s)-hydroxycholesterol and ciliobrevin a have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and spleen, and related mouse phenotypes are other and no phenotypic analysis.

Disease Ontology:9 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:42 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:63 Holoprosencephaly (HPE, once known as arhinencephaly) is a cephalic disorder in which the prosencephalon... more...

GeneReviews summary for hpe-overview

Related Diseases for Holoprosencephaly

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Diseases in the Holoprosencephaly family:

Holoprosencephaly 11 Holoprosencephaly-2
Holoprosencephaly-9 Holoprosencephaly-3
Holoprosencephaly-7 Holoprosencephaly-5
Holoprosencephaly-4 Hpe6-Related Holoprosencephaly
Ptch1-Related Holoprosencephaly Shh-Related Holoprosencephaly
Gli2-Related Holoprosencephaly Hpe8-Related Holoprosencephaly
Nodal-Related Holoprosencephaly Foxh1-Related Holoprosencephaly
Cdon-Related Holoprosencephaly Zic2-Related Holoprosencephaly
Six3-Related Holoprosencephaly Tgif1-Related Holoprosencephaly
Nonsyndromic Holoprosencephaly

Diseases related to Holoprosencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 174)
idRelated DiseaseScoreTop Affiliating Genes
1semilobar holoprosencephaly31.8SHH
2lobar holoprosencephaly31.7PTCH1
3single median maxillary central incisor30.9SHH
5smith-lemli-opitz syndrome30.8DHCR7, SHH
7moyamoya disease30.5TGIF1
8polydactyly30.2GLI1, GLI2, DHCR7, SHH, FGF8, PTCH1
9pallister-hall syndrome30.0SHH, GLI1, GAS1
10alobar holoprosencephaly10.8
11nonsyndromic holoprosencephaly10.5
13patau syndrome10.4SIX3, ZIC2
14cleft lip10.4
15genoa syndrome10.3
16vacterl association10.3SHH, GLI2
17holoprosencephaly 1110.3
19holoprosencephaly caudal dysgenesis10.3
20pseudotrisomy 13 syndrome10.3
22agnathia - holoprosencephaly - situs inversus10.3
23microform holoprosencephaly10.3
24ameloblastoma10.3GLI1, PTCH1
25hartsfield syndrome10.2
27microcephaly, holoprosencephaly, and intrauterine growth retardation10.2
28morse-rawnsley-sargent syndrome10.2
29steinfeld syndrome10.2
30septopreoptic holoprosencephaly10.2
31skin benign neoplasm10.2PTCH1, GLI1, GLI2
32caudal regression syndrome10.2
37midline interhemispheric variant of holoprosencephaly10.2
38mental retardation10.2DHCR7, TGIF1, SHH
45diabetes insipidus10.2
46congenital nasal pyriform aperture stenosis with holoprosencephaly10.2
47basal cell carcinoma10.2GLI1, PTCH1, GLI2, SHH
48medulloblastoma10.1GLI2, GLI1, PTCH1, SHH
49pancreatic cancer10.1GLI1, PTCH1, TGIF1, SHH
50syndactyly10.1DHCR7, FGF8

Graphical network of the top 20 diseases related to Holoprosencephaly:

Diseases related to holoprosencephaly

Symptoms for Holoprosencephaly

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 47 (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 86)
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 cheekbone underdevelopment occasional (7.5%) HP:0010669
75 arrhythmia occasional (7.5%) HP:0011675
76 absent nares occasional (7.5%) HP:0100596
77 autosomal recessive inheritance HP:0000007
78 micropenis HP:0000054
79 hypotelorism HP:0000601
80 adrenal hypoplasia HP:0000835
81 seizures HP:0001250
82 hypoglycemia HP:0001943
83 facial cleft HP:0002006
84 alobar holoprosencephaly HP:0006988
85 median cleft lip and palate HP:0008501
86 cyclopia HP:0009914

Drugs & Therapeutics for Holoprosencephaly

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Drug clinical trials:

Search ClinicalTrials for Holoprosencephaly

Search NIH Clinical Center for Holoprosencephaly

Genetic Tests for Holoprosencephaly

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Genetic tests related to Holoprosencephaly:

id Genetic test Affiliating Genes
1 Holoprosencephaly Multi-Gene Panels20
2 Holoprosencephaly20 ZIC2
3 Holoprosencephaly Sequence22

Anatomical Context for Holoprosencephaly

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MalaCards organs/tissues related to Holoprosencephaly:

Brain, Eye, Spleen, Lung, Cerebellum, Testes, Bone, Heart, Pituitary, Olfactory bulb, Cortex, Kidney, Retina, Pancreas, Fetal brain, Thalamus

Animal Models for Holoprosencephaly or affiliated genes

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MGI Mouse Phenotypes related to Holoprosencephaly:

35 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.6TGIF1, PTCH1, DLL1, NODAL
2MP:00030129.4SHH, GLI2, GLI1, NODAL, PTCH1
3MP:00053779.2TGIF1, FGF8, GAS1, GLI2, DLL1, SHH
4MP:00053678.9PTCH1, FGF8, SHH, DHCR7, FOXH1, DLL1
5MP:00053898.9SHH, PTCH1, TGIF1, GLI1, GLI2, NODAL
6MP:00053698.8DHCR7, FOXH1, PTCH1, NODAL, FGF8, DLL1
7MP:00053798.7SHH, PTCH1, FGF8, GLI1, GLI2, DLL1
8MP:00028738.7NODAL, DLL1, FGF8, TGIF1, PTCH1, SHH
9MP:00053888.5CDON, SHH, DHCR7, GLI2, NODAL, GLI1
10MP:00053918.4SHH, PTCH1, ZIC5, SIX3, FGF8, NODAL
11MP:00053848.3NODAL, SHH, TGIF1, DLL1, GLI2, GLI1
12MP:00053718.2FGF8, GLI1, GAS1, DLL1, ZIC2, DHCR7
13MP:00053818.2DLL1, GLI2, GLI1, NODAL, FGF8, DHCR7
14MP:00053768.1FGF8, GLI2, GAS1, DHCR7, SHH, TGIF1
15MP:00053858.1PTCH1, SHH, TGIF1, DHCR7, FOXH1, ZIC2
16MP:00053907.8SHH, PTCH1, ZIC2, ZIC5, DLL1, SIX3
17MP:00053827.7SHH, FGF8, CDON, NODAL, GAS1, GLI2
18MP:00053807.3FGF8, CDON, NODAL, GAS1, GLI1, DLL1
19MP:00053867.2FGF8, CDON, DLL1, ZIC5, ZIC2, ZIC4
20MP:00053786.9DLL1, GLI1, FGF8, GLI2, GAS1, ZIC5
21MP:00036316.6GLI2, GAS1, SHH, PTCH1, TGIF1, DHCR7
22MP:00107686.6TGIF1, SHH, FGF8, CDON, NODAL, GAS1

Publications for Holoprosencephaly

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Articles related to Holoprosencephaly:

(show top 50)    (show all 577)
Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice. (25468951)
Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism. (24706429)
Cyclopia, proboscis and alobar holoprosencephaly representative for trisomy 13. (25365860)
Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects. (24091065)
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. (25218063)
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. (23812909)
Holoprosencephaly: report of four cases and genotype-phenotype correlations. (23640411)
Thick corpus callosum: a clue to the diagnosis of fetal septopreoptic holoprosencephaly? (22006531)
Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly. (23692731)
Duplication of the ZIC2 gene is not associated with holoprosencephaly. (22105922)
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. (21204232)
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)
Two cases of single-stage lip and nostril reconstruction in holoprosencephaly. (21470822)
Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation. (20104607)
Clinical image. Middle interhemispheric variant of holoprosencephaly. (19997726)
Moebius syndrome and holoprosencephaly following exposure to misoprostol. (20933185)
Sonographic diagnosis of brain malformations, part 2: holoprosencephaly - hydranencephaly - agenesis of septum pellucidum - schizencephaly - septo-optical dysplasia. (21117007)
Lobar holoprosencephaly with a median cleft: case report. (19929095)
Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder. (18049080)
Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly. (18694563)
Prenatal MRI image of a fetus with semilobar holoprosencephaly. (21654965)
Holoprosencephaly: an antenatally-diagnosed case series and subject review. (18695774)
Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly. (18338389)
A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma. (17497722)
A mechanism for mutational inactivation of the homeodomain protein TGIF in holoprosencephaly. (17158784)
Factor analysis of neuroanatomical and clinical characteristics of holoprosencephaly. (16503393)
Links between abnormal brain structure and cognition in holoprosencephaly. (17138007)
Central roles of the roof plate in telencephalic development and holoprosencephaly. (16855091)
White matter imaging in holoprosencephaly in children. (15021236)
Lobar holoprosencephaly with vocal cord palsy. (12693788)
Identification of unexpected parental Robertsonian (13q;14q) translocations following prenatal sonographic detection of holoprosencephaly. (12230460)
Apolipoprotein B and apolipoprotein E genotypes and sporadic holoprosencephaly. (11857554)
Mosaic trisomy 9 and lobar holoprosencephaly. (12210326)
Hypodipsia-hypernatremia syndrome associated with holoprosencephaly in a child: a case report. (12405444)
Prenatal diagnosis of agnathia-holoprosencephaly: three-dimensional imaging by helical computed tomography. (11180246)
Problems in the definition of holoprosencephaly. (11745988)
Holoprosencephaly: the Maastricht experience. (11693794)
The interaction of the carboxyl terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIF. (10995736)
Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. (10820408)
Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses. (10340655)
Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. (10441331)
Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. (9602489)
Abnormal chromosome 18 in prenatal diagnosis with holoprosencephaly. (9316141)
Midline interhemispheric fusion associated with atypical callosal dysgenesis: a mild type of holoprosencephaly. (8826753)
Anterior callosal agenesis in mild, lobar holoprosencephaly. (7567274)
Disorders of midline structures: holoprosencephaly, absence of corpus callosum, and Chiari malformations. (3078668)
Aicardi syndrome with holoprosencephaly and cleft lip and palate. (3508052)
Semilobar holoprosencephaly: embryologic, CSF dynamics and radiological considerations. (3962751)
Acalvaria, holoprosencephaly, and facial dysmorphism syndrome. (3491120)

Variations for Holoprosencephaly

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Clinvar genetic disease variations for Holoprosencephaly:

6 (show all 63)
id Gene Variation Type Significance SNP ID Assembly Location
1GLI2GLI2, 1-BP DEL, NT2274deletionPathogenic
2GLI2NM_005270.4(GLI2): c.1323G> A (p.Trp441Ter)single nucleotide variantPathogenicrs121917707GRCh37Chr 2, 121732640: 121732640
3GLI2NM_005270.4(GLI2): c.1435C> G (p.Arg479Gly)single nucleotide variantPathogenicrs121917708GRCh37Chr 2, 121736076: 121736076
4ZIC2ZIC2, 7-BP DEL, NT392deletionPathogenic
5CDONNM_016952.4(CDON): c.2065C> G (p.Pro689Ala)single nucleotide variantPathogenicrs387906995GRCh37Chr 11, 125871707: 125871707
6CDONNM_016952.4(CDON): c.2339T> A (p.Val780Glu)single nucleotide variantPathogenicrs387906996GRCh37Chr 11, 125867125: 125867125
7CDONNM_016952.4(CDON): c.2368A> G (p.Thr790Ala)single nucleotide variantPathogenicrs387906997GRCh37Chr 11, 125864942: 125864942
8CDONNM_016952.4(CDON): c.2818A> C (p.Ser940Arg)single nucleotide variantPathogenicrs369673018GRCh37Chr 11, 125853944: 125853944
9GLI2NM_005270.4(GLI2): c.4663T> C (p.Ser1555Pro)single nucleotide variantPathogenicrs144372453GRCh37Chr 2, 121748153: 121748153
10GLI2NM_005270.4(GLI2): c.864_865delCC (p.His289Profs)deletionPathogenicrs398122882GRCh37Chr 2, 121727987: 121727988
11GLI2NM_005270.4(GLI2): c.1885G> A (p.Glu629Lys)single nucleotide variantPathogenicrs387907277GRCh37Chr 2, 121742248: 121742248
12GLI2NM_005270.4(GLI2): c.4558G> A (p.Asp1520Asn)single nucleotide variantPathogenicrs114814747GRCh37Chr 2, 121748048: 121748048
13SIX3NM_005413.3(SIX3): c.676C> G (p.Leu226Val)single nucleotide variantPathogenicrs121917878GRCh37Chr 2, 45169919: 45169919
14SIX3NM_005413.3(SIX3): c.770G> C (p.Arg257Pro)single nucleotide variantPathogenicrs121917879GRCh37Chr 2, 45170013: 45170013
15SIX3NM_005413.3(SIX3): c.749T> C (p.Val250Ala)single nucleotide variantPathogenicrs121917880GRCh37Chr 2, 45169992: 45169992
16SIX3SIX3, 2-BP INS, 557GGinsertionPathogenic
17SIX3SIX3, 2-BP INS, 406GCinsertionPathogenic
18SIX3NM_005413.3(SIX3): c.206G> A (p.Gly69Asp)single nucleotide variantPathogenicrs121917881GRCh37Chr 2, 45169449: 45169449
19SIX3NM_005413.3(SIX3): c.339G> T (p.Trp113Cys)single nucleotide variantPathogenicrs137853021GRCh37Chr 2, 45169582: 45169582
20ZIC2NM_007129.3(ZIC2): c.936delG (p.Lys312Asnfs)deletionPathogenicrs397515499GRCh37Chr 13, 100635254: 100635254
211 bp del G 7deletionPathogenic
22ZIC2NM_007129.3(ZIC2): c.1091_1092delAG (p.Gln364Leufs)deletionPathogenicrs397515500GRCh37Chr 13, 100637215: 100637216
23SIX3NM_005413.3(SIX3): c.696_705delCCCCAGCAAG (p.Asn232Lysfs)deletionPathogenicrs397515502GRCh37Chr 2, 45169939: 45169948
24SHHNM_000193.2: c.1308C> Tsingle nucleotide variantPathogenic
25SHHNM_000193.2(SHH): c.1210_1224delGGGGACCGCGGGGGC (p.Asp405_Gly409del)deletionPathogenicGRCh37Chr 7, 155595759: 155595773
26SHHNM_000193.2(SHH): c.9_10insGCTG (p.Leu4Alafs)insertionPathogenicGRCh37Chr 7, 155604807: 155604808
27SHHNM_000193.2(SHH): c.38_45delTCTCCTCG (p.Val13Alafs)deletionPathogenicGRCh37Chr 7, 155604772: 155604779
28SHHNM_000193.2(SHH): c.300G> C (p.Gln100His)single nucleotide variantPathogenicGRCh37Chr 7, 155604517: 155604517
29SHHNM_000193.2(SHH): c.474C> G (p.Tyr158Ter)single nucleotide variantPathogenicGRCh37Chr 7, 155599078: 155599078
30SHHNM_000193.2(SHH): c.562G> C (p.Glu188Gln)single nucleotide variantPathogenicGRCh37Chr 7, 155598990: 155598990
31SHHNM_000193.2(SHH): c.625C> T (p.Gln209Ter)single nucleotide variantPathogenicGRCh37Chr 7, 155596358: 155596358
32SHHNM_000193.2(SHH): c.664G> A (p.Asp222Asn)single nucleotide variantPathogenicGRCh37Chr 7, 155596319: 155596319
33SHHNM_000193.2(SHH): c.708C> A (p.Ser236Arg)single nucleotide variantPathogenicGRCh37Chr 7, 155596275: 155596275
34ZIC2NM_007129.3: c.177_178ins56insertionPathogenicGRCh37Chr 13, 100634495: 100634496
35ZIC2NM_007129.3(ZIC2): c.1318dupC (p.Leu440Profs)duplicationPathogenicrs397515364GRCh37Chr 13, 100637655: 100637655
36ZIC2NM_007129.3(ZIC2): c.1406_1407ins30insertionPathogenicGRCh37Chr 13, 100637743: 100637744
37ZIC2NM_007129.3(ZIC2): c.1040_1046delCCGAGAA (p.Glu348Serfs)deletionPathogenicrs397515365GRCh37Chr 13, 100635358: 100635364
38ZIC2ZIC2, 2-BP DEL, 180ACdeletionPathogenic
39TGIF1NM_170695.3(TGIF1): c.470C> G (p.Ser157Cys)single nucleotide variantPathogenicrs121909066GRCh37Chr 18, 3456418: 3456418
40TGIF1NM_170695.3(TGIF1): c.575C> G (p.Pro192Arg)single nucleotide variantPathogenicrs121909067GRCh37Chr 18, 3456523: 3456523
41TGIF1NM_170695.3(TGIF1): c.838A> G (p.Thr280Ala)single nucleotide variantPathogenicrs121909068GRCh37Chr 18, 3457570: 3457570
42TGIF1NM_170695.3(TGIF1): c.872C> T (p.Ser291Phe)single nucleotide variantPathogenicrs121909069GRCh37Chr 18, 3457604: 3457604
43TGIF1NM_170695.3(TGIF1): c.177C> G (p.Tyr59Ter)single nucleotide variantPathogenicrs121909070GRCh37Chr 18, 3452154: 3452154
44TGIF1NM_170695.3(TGIF1): c.707A> T (p.Gln236Leu)single nucleotide variantPathogenicrs28939693GRCh37Chr 18, 3457439: 3457439
45PTCH1NM_000264.3(PTCH1): c.1177G> A (p.Ala393Thr)single nucleotide variantPathogenicrs199476091GRCh37Chr 9, 98241320: 98241320
46PTCH1NM_000264.3(PTCH1): c.2479A> G (p.Ser827Gly)single nucleotide variantPathogenicrs199476092GRCh37Chr 9, 98229479: 98229479
47PTCH1NM_000264.3(PTCH1): c.3155C> T (p.Thr1052Met)single nucleotide variantPathogenicrs138911275GRCh37Chr 9, 98220308: 98220308
48PTCH1NM_000264.3(PTCH1): c.2723T> G (p.Val908Gly)single nucleotide variantPathogenicrs199476093GRCh37Chr 9, 98222046: 98222046
49SHHNM_000193.2(SHH): c.91G> A (p.Gly31Arg)single nucleotide variantPathogenicrs28936675GRCh37Chr 7, 155604726: 155604726
50SHHNM_000193.2(SHH): c.298C> T (p.Gln100Ter)single nucleotide variantPathogenicrs104894044GRCh37Chr 7, 155604519: 155604519
51SHHNM_000193.2(SHH): c.313A> T (p.Lys105Ter)single nucleotide variantPathogenicrs104894045GRCh37Chr 7, 155599239: 155599239
52SHHNM_000193.2(SHH): c.349T> G (p.Trp117Gly)single nucleotide variantPathogenicrs104894040GRCh37Chr 7, 155599203: 155599203
53SHHNM_000193.2(SHH): c.349T> C (p.Trp117Arg)single nucleotide variantPathogenicrs104894040GRCh37Chr 7, 155599203: 155599203
54SHHNM_000193.2(SHH): c.671T> A (p.Val224Glu)single nucleotide variantPathogenicrs104894042GRCh37Chr 7, 155596312: 155596312
55SHHNM_000193.2(SHH): c.676G> A (p.Ala226Thr)single nucleotide variantPathogenicrs104894043GRCh37Chr 7, 155596307: 155596307
56SHHNM_000193.2(SHH): c.788_808del21 (p.Arg263_Ala269del)deletionPathogenicrs397515375GRCh37Chr 7, 155596175: 155596195
57SHHNM_000193.2(SHH): c.850G> T (p.Glu284Ter)single nucleotide variantPathogenicrs104894046GRCh37Chr 7, 155596133: 155596133
58SHHNM_000193.2(SHH): c.1147G> A (p.Ala383Thr)single nucleotide variantPathogenicrs137853341GRCh37Chr 7, 155595836: 155595836
59SHHNM_000193.2(SHH): c.1270C> G (p.Pro424Ala)single nucleotide variantPathogenicrs104894048GRCh37Chr 7, 155595713: 155595713
60SHHNM_000193.2(SHH): c.1132_1140delGCGCCCTTC (p.Ala378_Phe380del)deletionPathogenicrs397515376GRCh37Chr 7, 155595843: 155595851
61SHHNM_000193.2(SHH): c.263A> T (p.Asp88Val)single nucleotide variantPathogenicrs104894050GRCh37Chr 7, 155604554: 155604554
62SHHNM_000193.2(SHH): c.766G> T (p.Glu256Ter)single nucleotide variantPathogenicrs104894051GRCh37Chr 7, 155596217: 155596217
63SHHNM_000193.2(SHH): c.345C> A (p.Asn115Lys)single nucleotide variantPathogenicrs267607047GRCh37Chr 7, 155599207: 155599207

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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Compounds for genes affiliated with Holoprosencephaly

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59Tocris Bioscience, 43Novoseek, 24HMDB
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Compounds related to Holoprosencephaly according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
120(s)-hydroxycholesterol5910.1SHH, GLI1
2ciliobrevin a5910.0SHH, GLI1
3ay 9944 dihydrochloride599.9GLI1, DHCR7, SHH
4cyclopamine43 5910.9GLI1, PTCH1, SHH
5sant-1599.8SHH, GLI1
6zinc43 2410.2FGF8, GLI1, GLI2, ZIC2, TGIF1, PTCH1

GO Terms for genes affiliated with Holoprosencephaly

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Cellular components related to Holoprosencephaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1primary ciliumGO:007237210.0GLI1, PTCH1

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

(show top 50)    (show all 58)
idNameGO IDScoreTop Affiliating Genes
1hindgut morphogenesisGO:000744210.5GLI2, SHH
2smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:006083110.5PTCH1, GLI2
3positive regulation of skeletal muscle tissue developmentGO:004864310.5SHH, CDON
4mammary gland duct morphogenesisGO:006060310.5PTCH1, GLI2
5spinal cord dorsal/ventral patterningGO:002151310.5GLI2, SHH
6notochord regressionGO:006003210.4GLI2, GLI1
7somite developmentGO:006105310.4SHH, PTCH1
8positive regulation of T cell differentiation in thymusGO:003308910.4SHH, GLI2
9renal system developmentGO:007200110.4SHH, PTCH1
10regulation of gastrulationGO:001047010.4NODAL, TGIF1
11floor plate formationGO:002150810.4FOXH1, GLI2
12formation of anatomical boundaryGO:004885910.4NODAL, SHH
13epidermal cell differentiationGO:000991310.4GLI1, GLI2
14cerebellar cortex morphogenesisGO:002169610.4GLI2, GLI1
15nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetryGO:0190016410.4FOXH1, NODAL
16cell fate specificationGO:000170810.4CDON, SHH
17branching involved in salivary gland morphogenesisGO:006044510.3SHH, FGF8
18hindbrain developmentGO:003090210.3GLI2, SHH
19spinal cord motor neuron differentiationGO:002152210.3PTCH1, SHH
20cell migration involved in gastrulationGO:004207410.3FOXH1, NODAL
21ventral midline developmentGO:000741810.3GLI1, GLI2, SHH
22dorsal/ventral neural tube patterningGO:002190410.3GAS1, SHH
23smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:002193810.3GLI1, GLI2, SHH
24osteoblast developmentGO:000207610.3GLI2, SHH
25negative regulation of androgen receptor signaling pathwayGO:006076610.3FOXH1, NODAL
26pharyngeal system developmentGO:006003710.3FGF8, PTCH1
27aorta morphogenesisGO:003590910.3FGF8, FOXH1
28digestive tract morphogenesisGO:004854610.2GLI1, NODAL
29branching involved in ureteric bud morphogenesisGO:000165810.2PTCH1, SHH, FGF8
30male genitalia developmentGO:003053910.2FGF8, SHH
31positive regulation of neuron differentiationGO:004566610.2TGIF1, GLI2, CDON
32embryonic digit morphogenesisGO:004273310.2GAS1, GLI2, SHH
33positive regulation of smoothened signaling pathwayGO:004588010.2GLI1, GAS1, SHH
34thyroid gland developmentGO:003087810.2SHH, FGF8
35dorsal/ventral pattern formationGO:000995310.1SHH, PTCH1, TGIF1, GLI1
36negative regulation of smoothened signaling pathwayGO:004587910.1GAS1, PTCH1
37proximal/distal pattern formationGO:000995410.1GLI2, GLI1
38brain developmentGO:000742010.1PTCH1, NODAL, ZIC2, SIX3
39lung developmentGO:003032410.0GLI2, DHCR7, GLI1, SHH
40embryonic pattern specificationGO:000988010.0SHH, NODAL
41regulation of smoothened signaling pathwayGO:000858910.0GLI2, PTCH1, GAS1, GLI1
42developmental growthGO:004858910.0GLI2, GAS1
43smoothened signaling pathwayGO:00072249.9GLI2, PTCH1, GLI1, CDON, SHH
44neural tube closureGO:00018439.9ZIC2, ZIC5, TGIF1, PTCH1
45embryonic cranial skeleton morphogenesisGO:00487019.8GAS1, NODAL
46positive regulation of transcription, DNA-templatedGO:00458939.8SHH, GLI1, GLI2, ZIC2, FOXH1
47pituitary gland developmentGO:00219839.7GLI1, GLI2
48heart loopingGO:00019479.6NODAL, SHH, FOXH1, DLL1, FGF8
49negative regulation of transcription from RNA polymerase II promoterGO:00001229.6GLI2, FOXH1, TGIF1, PTCH1, SHH, NODAL
50positive regulation of transcription from RNA polymerase II promoterGO:00459449.1SIX3, DLL1, CDON, GLI2, GLI1, FOXH1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1patched bindingGO:000511310.3PTCH1, SHH
2morphogen activityGO:001601510.2NODAL, SHH
3co-SMAD bindingGO:007041010.1TGIF1, FOXH1
4RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.9GLI1, SIX3, FOXH1
5transcription regulatory region DNA bindingGO:00442129.8GLI1, GLI2, FOXH1
6sequence-specific DNA bindingGO:00435659.3TGIF1, FOXH1, SIX3, GLI2
7sequence-specific DNA binding transcription factor activityGO:00037009.1TGIF1, FOXH1, ZIC2, ZIC5, GLI2
8protein bindingGO:00055158.0PTCH1, TGIF1, FOXH1, DLL1, GLI2, GLI1

Products for genes affiliated with Holoprosencephaly

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  • Antibodies
  • Proteins
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Sources for Holoprosencephaly

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26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet