HPE5
MCID: HLP028
MIFTS: 47

Holoprosencephaly 5 (HPE5)

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

Aliases & Classifications for Holoprosencephaly 5

MalaCards integrated aliases for Holoprosencephaly 5:

Name: Holoprosencephaly 5 57 12 72 29 6 15 70
Hpe5 57 12 72
Holoprosencephaly-5 72 13
Holoprosencephaly, Type 5 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
high occurrence of de novo mutations
subtle facial phenotype compared to other types of hpe


HPO:

31
holoprosencephaly 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Holoprosencephaly 5

UniProtKB/Swiss-Prot : 72 Holoprosencephaly 5: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.

MalaCards based summary : Holoprosencephaly 5, also known as hpe5, is related to central nervous system lipoma and chromosome 18p deletion syndrome. An important gene associated with Holoprosencephaly 5 is ZIC2 (Zic Family Member 2), and among its related pathways/superpathways are Signaling by Hedgehog and Wnt / Hedgehog / Notch. Related phenotypes are high palate and hydrocephalus

Disease Ontology : 12 A holoprosencephaly that has material basis in heterozygous mutation in the ZIC2 gene on chromosome 13q32.

More information from OMIM: 609637 PS236100

Related Diseases for Holoprosencephaly 5

Diseases in the Holoprosencephaly family:

Holoprosencephaly 3 Holoprosencephaly 4
Holoprosencephaly 2 Holoprosencephaly 1
Holoprosencephaly 6 Holoprosencephaly 8
Holoprosencephaly 5 Holoprosencephaly 7
Holoprosencephaly 9 Holoprosencephaly 11
Nonsyndromic Holoprosencephaly

Diseases related to Holoprosencephaly 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 central nervous system lipoma 10.3 ZIC2 SIX3
2 chromosome 18p deletion syndrome 10.2 ZIC2 SIX3
3 orofaciodigital syndrome viii 10.2 ZIC2 SIX3 DISP1
4 holoprosencephaly 8 10.1 ZIC2 DISP1 CDON
5 progressive myoclonus epilepsy 1b 10.1 PRICKLE1 DISP1
6 chromosome 17q23.1-q23.2 deletion syndrome 10.1 PRICKLE1 DISP1
7 septooptic dysplasia 10.1 SIX3 SHH GLI2
8 hypopituitarism 10.0 SIX3 SHH GLI2
9 corpus callosum lipoma 10.0 ZIC2 SIX3 SHH GLI2
10 cerebral hemisphere lipoma 10.0 ZIC2 SIX3 SHH GLI2
11 anus, imperforate 10.0 SHH GLI2
12 calcifying epithelial odontogenic tumor 9.9 PTCH1 GLI2
13 polydactyly, preaxial ii 9.9 SHH PTCH1
14 schizencephaly 9.9 SIX3 SHH
15 cerebellum cancer 9.9 SHH PTCH1
16 patau syndrome 9.9 ZIC2 SIX3 SHH FOXH1 DISP1
17 cerebellar medulloblastoma 9.9 SHH PTCH1
18 holoprosencephaly 3 9.8 ZIC2 SIX3 SHH GLI2 DISP1
19 synostosis 9.8 ZIC1 SHH RAB23
20 keratocystic odontogenic tumor 9.8 SHH PTCH1
21 holoprosencephaly, recurrent infections, and monocytosis 9.8 SIX3 PTCH1 GLI2
22 colobomatous microphthalmia 9.8 SIX3 SHH PTCH1
23 melanotic medulloblastoma 9.8 SHH PTCH1 GLI2
24 holoprosencephaly 1 9.8 ZIC2 SIX3 SHH GLI2 CDON
25 nodular medulloblastoma 9.8 SHH PTCH1 GLI2
26 adult medulloblastoma 9.8 SHH PTCH1 GLI2
27 culler-jones syndrome 9.8 ZIC2 SIX3 SHH GLI2 CDON
28 greig cephalopolysyndactyly syndrome 9.8 SHH PTCH1 GLI2
29 skeletal muscle cancer 9.8 SHH PTCH1 GLI2
30 focal dermal hypoplasia 9.8 SHH PTCH1
31 brachydactyly, type a1 9.8 SHH PTCH1 CDON
32 infratentorial cancer 9.7 SHH PTCH1 GLI2
33 cerebellar disease 9.7 ZIC1 JPH3 ATXN8OS
34 spina bifida occulta 9.7 RAB23 PTCH1
35 ellis-van creveld syndrome 9.7 SHH PTCH1 GLI2
36 holoprosencephaly 4 9.7 ZIC2 SIX3 SHH FOXH1 DISP1 CDON
37 microphthalmia 9.6 SIX3 SHH PTCH1 GLI2
38 chromosome 2q35 duplication syndrome 9.6 SHH RAB23 PTCH1 GLI2
39 physical disorder 9.5 ZIC2 SIX3 SHH PTCH1 GLI2
40 orofacial cleft 9.5 ZIC2 SIX3 SHH PTCH1 GLI2
41 coloboma of macula 9.5 ZIC2 SIX3 SHH PTCH1 CDON
42 holoprosencephaly 2 9.4 ZIC2 SIX3 SHH PRICKLE1 GLI2 FOXH1
43 basal cell nevus syndrome 9.4 SHH RAB23 PTCH1 GLI2 CDON
44 pallister-hall syndrome 9.3 ZIC2 SIX3 SHH PTCH1 GLI2 CDON
45 neural tube defects 9.2 ZIC2 ZIC1 SHH PTCH1 PRICKLE1
46 alobar holoprosencephaly 9.1 ZIC2 SIX3 SHH PTCH1 GLI2 FOXH1
47 lobar holoprosencephaly 9.1 ZIC2 SIX3 SHH PTCH1 GLI2 FOXH1
48 midline interhemispheric variant of holoprosencephaly 9.1 ZIC2 SIX3 SHH PTCH1 GLI2 FOXH1
49 semilobar holoprosencephaly 9.1 ZIC2 SIX3 SHH PTCH1 GLI2 FOXH1
50 septopreoptic holoprosencephaly 9.0 ZIC2 SIX3 SHH PTCH1 GLI2 FOXH1

Graphical network of the top 20 diseases related to Holoprosencephaly 5:



Diseases related to Holoprosencephaly 5

Symptoms & Phenotypes for Holoprosencephaly 5

Human phenotypes related to Holoprosencephaly 5:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 high palate 31 very rare (1%) HP:0000218
2 hydrocephalus 31 very rare (1%) HP:0000238
3 depressed nasal bridge 31 very rare (1%) HP:0005280
4 hypertelorism 31 very rare (1%) HP:0000316
5 macrotia 31 very rare (1%) HP:0000400
6 anteverted nares 31 very rare (1%) HP:0000463
7 upslanted palpebral fissure 31 very rare (1%) HP:0000582
8 deep philtrum 31 very rare (1%) HP:0002002
9 broad forehead 31 very rare (1%) HP:0000337
10 high forehead 31 very rare (1%) HP:0000348
11 hypotelorism 31 very rare (1%) HP:0000601
12 synophrys 31 very rare (1%) HP:0000664
13 oral cleft 31 very rare (1%) HP:0000202
14 sloping forehead 31 very rare (1%) HP:0000340
15 lobar holoprosencephaly 31 very rare (1%) HP:0006870
16 narrow forehead 31 very rare (1%) HP:0000341
17 semilobar holoprosencephaly 31 very rare (1%) HP:0002507
18 alobar holoprosencephaly 31 very rare (1%) HP:0006988
19 intellectual disability 31 HP:0001249
20 global developmental delay 31 HP:0001263
21 abnormal facial shape 31 HP:0001999
22 microcephaly 31 HP:0000252
23 trigonocephaly 31 HP:0000243
24 central diabetes insipidus 31 HP:0000863
25 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
synophrys
upslanting palpebral fissures (97%)
hypotelorism (19%)
hypertelorism (12%)

Neurologic Central Nervous System:
mental retardation
hydrocephalus (12%)
neural tube defects (4%)

Head And Neck Face:
broad, deep philtrum (43%)

Head And Neck Nose:
flat nasal bridge (33%)
short nose with anteverted nares (73%)

Skin Nails Hair Hair:
synophrys

Head And Neck Head:
tall, broad forehead
bitemporal narrowing (53%)

Head And Neck Ears:
large ears (37%)

Head And Neck Mouth:
cleft lip/palate (10%)
high-arched palate (17%)

Clinical features from OMIM®:

609637 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Holoprosencephaly 5:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.29 ARX CDON DISP1 FOXH1 GLI2 JPH3
2 mortality/aging MP:0010768 10.25 ARX CDON DISP1 FOXH1 GLI2 JPH3
3 embryo MP:0005380 10.22 CDON DISP1 FOXH1 GLI2 PRICKLE1 PTCH1
4 craniofacial MP:0005382 10.2 CDON DISP1 FOXH1 GLI2 PRICKLE1 PTCH1
5 digestive/alimentary MP:0005381 10.19 CDON DISP1 FOXH1 GLI2 PRICKLE1 PTCH1
6 nervous system MP:0003631 10.18 ARX CDON DISP1 FOXH1 GLI2 JPH3
7 limbs/digits/tail MP:0005371 10.06 CDON DISP1 GLI2 PRICKLE1 PTCH1 RAB23
8 integument MP:0010771 10.02 ARX GLI2 PRICKLE1 PTCH1 RAB23 SHH
9 muscle MP:0005369 10.01 ARX DISP1 FOXH1 GLI2 PRICKLE1 PTCH1
10 respiratory system MP:0005388 9.91 CDON DISP1 FOXH1 GLI2 PRICKLE1 PTCH1
11 skeleton MP:0005390 9.9 CDON DISP1 FOXH1 GLI2 PRICKLE1 PTCH1
12 hearing/vestibular/ear MP:0005377 9.89 FOXH1 GLI2 PRICKLE1 PTCH1 SHH
13 normal MP:0002873 9.87 ARX DISP1 FOXH1 GLI2 PTCH1 SHH
14 vision/eye MP:0005391 9.32 CDON DISP1 FOXH1 GLI2 PRICKLE1 PTCH1
15 taste/olfaction MP:0005394 9.13 PTCH1 SHH SIX3

Drugs & Therapeutics for Holoprosencephaly 5

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 5

Genetic Tests for Holoprosencephaly 5

Genetic tests related to Holoprosencephaly 5:

# Genetic test Affiliating Genes
1 Holoprosencephaly 5 29 ZIC2

Anatomical Context for Holoprosencephaly 5

Publications for Holoprosencephaly 5

Articles related to Holoprosencephaly 5:

(show all 18)
# Title Authors PMID Year
1
ZIC2 mutations are seen in holoprosencephaly and not partial rhombencephalosynapsis. 57 6
21990207 2011
2
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. 57 6
21638761 2011
3
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. 57 6
19955556 2010
4
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly. 6 57
11479728 2001
5
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. 6 57
11285244 2001
6
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. 57 6
9771712 1998
7
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. 57
21976454 2011
8
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. 57
21940735 2011
9
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. 57
20531442 2010
10
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. 6
19177455 2009
11
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. 57
16199538 2006
12
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. 57
16323008 2006
13
In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation. 6
15590697 2005
14
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 57
15221788 2004
15
The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32. 57
7573047 1995
16
Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. 57
8418661 1993
17
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family. 61
33557041 2021
18
Link between the causative genes of holoprosencephaly: Zic2 directly regulates Tgif1 expression. 61
29391420 2018

Variations for Holoprosencephaly 5

ClinVar genetic disease variations for Holoprosencephaly 5:

6 (show all 48)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZIC2 NM_007129.4(ZIC2):c.177_178ins56 Insertion Pathogenic 6637 GRCh37: 13:100634495-100634496
GRCh38: 13:99982241-99982242
2 ZIC2 NM_007129.5(ZIC2):c.1318dup (p.Leu440fs) Duplication Pathogenic 6638 rs397515364 GRCh37: 13:100637654-100637655
GRCh38: 13:99985400-99985401
3 ZIC2 NM_007129.5(ZIC2):c.1042_1048del (p.Glu348fs) Deletion Pathogenic 6640 rs397515365 GRCh37: 13:100635358-100635364
GRCh38: 13:99983104-99983110
4 ZIC2 ZIC2, 2-BP DEL, 180AC Deletion Pathogenic 6641 GRCh37:
GRCh38:
5 ZIC2 NM_007129.5(ZIC2):c.397_403del (p.Gly133fs) Deletion Pathogenic 30298 rs1594290658 GRCh37: 13:100634710-100634716
GRCh38: 13:99982456-99982462
6 ZIC2 NM_007129.5(ZIC2):c.936del (p.Lys312fs) Deletion Pathogenic 65487 rs397515499 GRCh37: 13:100635254-100635254
GRCh38: 13:99983000-99983000
7 ZIC2 NM_007129.5(ZIC2):c.1091_1092del (p.Gln364fs) Deletion Pathogenic 65492 rs397515500 GRCh37: 13:100637215-100637216
GRCh38: 13:99984961-99984962
8 ZIC2 NM_007129.5(ZIC2):c.793C>T (p.Gln265Ter) SNV Pathogenic 397655 rs1060499563 GRCh37: 13:100635111-100635111
GRCh38: 13:99982857-99982857
9 ZIC2 NM_007129.3:c.1148_1464del Deletion Pathogenic 397658 GRCh37:
GRCh38:
10 ZIC2 NM_007129.5(ZIC2):c.1093_1094TG[1] (p.Cys365_Glu366delinsTer) Microsatellite Pathogenic 397656 rs1060499562 GRCh37: 13:100637216-100637217
GRCh38: 13:99984962-99984963
11 ZIC2 NM_007129.5(ZIC2):c.1097_1098del (p.Glu366fs) Deletion Pathogenic 397654 rs1060499564 GRCh37: 13:100637220-100637221
GRCh38: 13:99984966-99984967
12 ZIC2 NM_007129.5(ZIC2):c.1085_1131del (p.Pro362fs) Deletion Pathogenic 437335 rs1555332362 GRCh37: 13:100637206-100637252
GRCh38: 13:99984952-99984998
13 ZIC2 and overlap with 1 gene(s) NM_007129.5(ZIC2):c.1377_1406dup (p.Ala461_Ala470dup) Duplication Pathogenic 468365 rs756225250 GRCh37: 13:100637702-100637703
GRCh38: 13:99985448-99985449
14 ZIC2 NM_007129.5(ZIC2):c.1076-2A>T SNV Pathogenic 468364 rs1555332361 GRCh37: 13:100637198-100637198
GRCh38: 13:99984944-99984944
15 ZIC2 NM_007129.5(ZIC2):c.321del (p.Tyr108fs) Deletion Pathogenic 545578 rs1555332212 GRCh37: 13:100634638-100634638
GRCh38: 13:99982384-99982384
16 ZIC2 NM_007129.5(ZIC2):c.1215del (p.Ser406fs) Deletion Pathogenic 659143 rs1594291863 GRCh37: 13:100637336-100637336
GRCh38: 13:99985082-99985082
17 ZIC2 NM_007129.5(ZIC2):c.230_236delinsCA (p.Phe77fs) Indel Pathogenic 971307 GRCh37: 13:100634548-100634554
GRCh38: 13:99982294-99982300
18 overlap with 5 genes NC_000013.11:g.(?_99385979)_(99986648_?)del Deletion Pathogenic 830571 GRCh37: 13:100038233-100638902
GRCh38:
19 ZIC2 NM_007129.5(ZIC2):c.1317del (p.Leu440fs) Deletion Pathogenic 811286 rs1594292057 GRCh37: 13:100637651-100637651
GRCh38: 13:99985397-99985397
20 LOC110008580 , ZIC2 NM_007129.5(ZIC2):c.1366GCN[45] (p.Ala456[15]) Microsatellite Pathogenic 6639 GRCh37: 13:100637703-100637705
GRCh38: 13:99985449-99985451
21 ZIC2 NM_007129.5(ZIC2):c.381_382del (p.Asp128fs) Deletion Likely pathogenic 562021 rs1456001894 GRCh37: 13:100634697-100634698
GRCh38: 13:99982443-99982444
22 ZIC2 NM_007129.5(ZIC2):c.1229_1234del (p.Lys410_His411del) Deletion Likely pathogenic 570769 rs1566405714 GRCh37: 13:100637352-100637357
GRCh38: 13:99985098-99985103
23 ZIC2 NM_007129.5(ZIC2):c.1200_1205del (p.Lys400_Tyr402delinsAsn) Deletion Likely pathogenic 856788 GRCh37: 13:100637323-100637328
GRCh38: 13:99985069-99985074
24 ZIC2 NM_007129.5(ZIC2):c.1245T>G (p.His415Gln) SNV Likely pathogenic 203372 rs794729641 GRCh37: 13:100637582-100637582
GRCh38: 13:99985328-99985328
25 ZIC2 NM_007129.5(ZIC2):c.914A>T (p.Glu305Val) SNV Uncertain significance 930518 GRCh37: 13:100635232-100635232
GRCh38: 13:99982978-99982978
26 ZIC2 NM_007129.5(ZIC2):c.418G>C (p.Gly140Arg) SNV Uncertain significance 931234 GRCh37: 13:100634736-100634736
GRCh38: 13:99982482-99982482
27 ZIC2 NM_007129.5(ZIC2):c.716A>C (p.His239Pro) SNV Uncertain significance 931600 GRCh37: 13:100635034-100635034
GRCh38: 13:99982780-99982780
28 ZIC2 NM_007129.5(ZIC2):c.858C>G (p.His286Gln) SNV Uncertain significance 651840 rs1325393230 GRCh37: 13:100635176-100635176
GRCh38: 13:99982922-99982922
29 ZIC2 NM_007129.5(ZIC2):c.450C>G (p.His150Gln) SNV Uncertain significance 1044719 GRCh37: 13:100634768-100634768
GRCh38: 13:99982514-99982514
30 ZIC2 NM_007129.5(ZIC2):c.1096G>A (p.Glu366Lys) SNV Uncertain significance 948917 GRCh37: 13:100637220-100637220
GRCh38: 13:99984966-99984966
31 LOC110008580 , ZIC2 NM_007129.5(ZIC2):c.1377_1382dup (p.Ala469_Ala470dup) Duplication Uncertain significance 970658 GRCh37: 13:100637708-100637709
GRCh38: 13:99985454-99985455
32 ZIC2 NM_007129.5(ZIC2):c.673A>G (p.Met225Val) SNV Uncertain significance 1000901 GRCh37: 13:100634991-100634991
GRCh38: 13:99982737-99982737
33 ZIC2 NM_007129.5(ZIC2):c.692ACC[6] (p.His237_His239del) Microsatellite Uncertain significance 1002415 GRCh37: 13:100635008-100635016
GRCh38: 13:99982754-99982762
34 ZIC2 NM_007129.5(ZIC2):c.1019G>C (p.Cys340Ser) SNV Uncertain significance 947826 GRCh37: 13:100635337-100635337
GRCh38: 13:99983083-99983083
35 ZIC2 NM_007129.5(ZIC2):c.983C>T (p.Thr328Ile) SNV Uncertain significance 957733 GRCh37: 13:100635301-100635301
GRCh38: 13:99983047-99983047
36 ZIC2 NM_007129.5(ZIC2):c.1058_1059delinsCT (p.His353Pro) Indel Uncertain significance 960280 GRCh37: 13:100635376-100635377
GRCh38: 13:99983122-99983123
37 ZIC2 NM_007129.5(ZIC2):c.1497C>T (p.Gly499=) SNV Likely benign 772407 rs186543347 GRCh37: 13:100637834-100637834
GRCh38: 13:99985580-99985580
38 ZIC2 NM_007129.5(ZIC2):c.1494C>A (p.Gly498=) SNV Likely benign 703085 rs949949328 GRCh37: 13:100637831-100637831
GRCh38: 13:99985577-99985577
39 ZIC2 NM_007129.5(ZIC2):c.855A>G (p.Thr285=) SNV Likely benign 730470 rs780880109 GRCh37: 13:100635173-100635173
GRCh38: 13:99982919-99982919
40 ZIC2 NM_007129.5(ZIC2):c.1347C>T (p.Ser449=) SNV Likely benign 730543 rs1023574991 GRCh37: 13:100637684-100637684
GRCh38: 13:99985430-99985430
41 ZIC2 NM_007129.5(ZIC2):c.692_694ACC[8] (p.His239del) Microsatellite Likely benign 518253 rs398124241 GRCh37: 13:100635008-100635010
GRCh38: 13:99982754-99982756
42 ZIC2 NM_007129.5(ZIC2):c.213G>A (p.Pro71=) SNV Benign 260131 rs189469383 GRCh37: 13:100634531-100634531
GRCh38: 13:99982277-99982277
43 ZIC2 NM_007129.5(ZIC2):c.1326C>T (p.Ser442=) SNV Benign 196447 rs182192729 GRCh37: 13:100637663-100637663
GRCh38: 13:99985409-99985409
44 ZIC2 NM_007129.5(ZIC2):c.1314G>A (p.Pro438=) SNV Benign 767479 rs762579383 GRCh37: 13:100637651-100637651
GRCh38: 13:99985397-99985397
45 ZIC2 NM_007129.5(ZIC2):c.528C>T (p.Asn176=) SNV Benign 260133 rs143055297 GRCh37: 13:100634846-100634846
GRCh38: 13:99982592-99982592
46 ZIC2 NM_007129.5(ZIC2):c.1554G>A (p.Gly518=) SNV Benign 260130 rs199669243 GRCh37: 13:100637891-100637891
GRCh38: 13:99985637-99985637
47 ZIC2 NM_007129.5(ZIC2):c.546G>T (p.Gly182=) SNV Benign 702112 rs200407312 GRCh37: 13:100634864-100634864
GRCh38: 13:99982610-99982610
48 ZIC2 NM_007129.5(ZIC2):c.691_692insCAC (p.His231_His232insPro) Insertion Benign 811567 rs1594290893 GRCh37: 13:100635008-100635009
GRCh38: 13:99982754-99982755

UniProtKB/Swiss-Prot genetic disease variations for Holoprosencephaly 5:

72 (show all 21)
# Symbol AA change Variation ID SNP ID
1 ZIC2 p.Gln36Pro VAR_023793 rs118533394
2 ZIC2 p.Asp152Phe VAR_023794
3 ZIC2 p.Asp37Asn VAR_058592
4 ZIC2 p.Asp128Asn VAR_058593
5 ZIC2 p.Ser272Asn VAR_058594
6 ZIC2 p.His286Leu VAR_058595
7 ZIC2 p.His286Gln VAR_058596
8 ZIC2 p.His286Tyr VAR_058597
9 ZIC2 p.His291Tyr VAR_058598
10 ZIC2 p.Trp304Arg VAR_058599
11 ZIC2 p.Phe314Cys VAR_058600
12 ZIC2 p.Arg325Leu VAR_058601
13 ZIC2 p.Arg325Ser VAR_058602
14 ZIC2 p.His327Tyr VAR_058603
15 ZIC2 p.Cys335Phe VAR_058604
16 ZIC2 p.Arg373Pro VAR_058605
17 ZIC2 p.Tyr402Asn VAR_058606
18 ZIC2 p.Thr403Lys VAR_058607
19 ZIC2 p.His404Arg VAR_058608
20 ZIC2 p.Arg409Trp VAR_058609
21 ZIC2 p.His415Gln VAR_058610 rs794729641

Expression for Holoprosencephaly 5

Search GEO for disease gene expression data for Holoprosencephaly 5.

Pathways for Holoprosencephaly 5

GO Terms for Holoprosencephaly 5

Biological processes related to Holoprosencephaly 5 according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.06 SHH PTCH1 GLI2 FOXH1 ARX
2 positive regulation of transcription, DNA-templated GO:0045893 9.93 ZIC2 ZIC1 SHH PTCH1 GLI2 FOXH1
3 multicellular organism development GO:0007275 9.92 ZIC2 ZIC1 SIX3 SHH RAB23 GLI2
4 brain development GO:0007420 9.88 ZIC2 ZIC1 SIX3 PTCH1
5 central nervous system development GO:0007417 9.83 ZIC2 ZIC1 SHH
6 regulation of cell proliferation GO:0042127 9.83 SIX3 SHH PTCH1 ARX
7 determination of left/right symmetry GO:0007368 9.75 SHH FOXH1 DISP1
8 anterior/posterior pattern specification GO:0009952 9.71 SHH GLI2 FOXH1 CDON
9 mammary gland development GO:0030879 9.68 PTCH1 GLI2
10 pituitary gland development GO:0021983 9.68 SIX3 GLI2
11 hair follicle morphogenesis GO:0031069 9.68 SHH GLI2
12 embryonic pattern specification GO:0009880 9.67 SHH DISP1
13 branching morphogenesis of an epithelial tube GO:0048754 9.67 SHH GLI2
14 developmental growth GO:0048589 9.67 SHH GLI2
15 negative regulation of smoothened signaling pathway GO:0045879 9.66 PTCH1 GLI2
16 regulation of smoothened signaling pathway GO:0008589 9.65 ZIC1 PTCH1
17 embryonic morphogenesis GO:0048598 9.65 SHH CDON
18 striated muscle cell differentiation GO:0051146 9.64 SHH CDON
19 hindbrain development GO:0030902 9.64 SHH GLI2
20 anatomical structure formation involved in morphogenesis GO:0048646 9.63 SHH GLI2
21 osteoblast development GO:0002076 9.63 SHH GLI2
22 somite development GO:0061053 9.62 SHH PTCH1
23 prostate gland development GO:0030850 9.62 SHH PTCH1
24 smooth muscle tissue development GO:0048745 9.61 SHH PTCH1
25 cell proliferation in forebrain GO:0021846 9.61 SIX3 ARX
26 metanephric collecting duct development GO:0072205 9.6 SHH PTCH1
27 positive regulation of T cell differentiation in thymus GO:0033089 9.59 SHH GLI2
28 positive regulation of skeletal muscle tissue development GO:0048643 9.57 SHH CDON
29 telencephalon regionalization GO:0021978 9.56 SIX3 SHH
30 smoothened signaling pathway GO:0007224 9.56 SHH PTCH1 GLI2 CDON
31 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.55 PTCH1 GLI2
32 mammary gland duct morphogenesis GO:0060603 9.54 PTCH1 GLI2
33 spinal cord motor neuron differentiation GO:0021522 9.54 SHH PTCH1 GLI2
34 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.51 SHH GLI2
35 spinal cord dorsal/ventral patterning GO:0021513 9.49 SHH GLI2
36 hindgut morphogenesis GO:0007442 9.48 SHH GLI2
37 ventral midline development GO:0007418 9.43 SHH GLI2
38 dorsal/ventral neural tube patterning GO:0021904 9.33 SHH PTCH1 GLI2
39 pattern specification process GO:0007389 9.26 ZIC1 SHH PTCH1 GLI2
40 dorsal/ventral pattern formation GO:0009953 8.92 SHH PTCH1 GLI2 DISP1

Molecular functions related to Holoprosencephaly 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 ZIC2 ZIC1 SIX3 GLI2 FOXH1 ARX
2 patched binding GO:0005113 8.62 SHH PTCH1

Sources for Holoprosencephaly 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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