MCID: HLP028
MIFTS: 32

Holoprosencephaly 5

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

Aliases & Classifications for Holoprosencephaly 5

MalaCards integrated aliases for Holoprosencephaly 5:

Name: Holoprosencephaly 5 57 12 75 29 6 15 73
Hpe5 57 12 75
Holoprosencephaly-5 75 13
Holoprosencephaly, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
holoprosencephaly 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Holoprosencephaly 5

UniProtKB/Swiss-Prot : 75 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 septopreoptic holoprosencephaly and midline interhemispheric variant of holoprosencephaly. An important gene associated with Holoprosencephaly 5 is ZIC2 (Zic Family Member 2). Affiliated tissues include brain, and related phenotypes are hypertelorism and high palate

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

Description from OMIM: 609637

Related Diseases for Holoprosencephaly 5

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



Diseases related to Holoprosencephaly 5

Symptoms & Phenotypes for Holoprosencephaly 5

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Holoprosencephaly 5:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 very rare (1%) HP:0000316
2 high palate 32 very rare (1%) HP:0000218
3 hydrocephalus 32 HP:0000238
4 intellectual disability 32 HP:0001249
5 macrotia 32 very rare (1%) HP:0000400
6 global developmental delay 32 HP:0001263
7 depressed nasal bridge 32 very rare (1%) HP:0005280
8 abnormal facial shape 32 HP:0001999
9 microcephaly 32 HP:0000252
10 upslanted palpebral fissure 32 very rare (1%) HP:0000582
11 holoprosencephaly 32 HP:0001360
12 hypotelorism 32 very rare (1%) HP:0000601
13 synophrys 32 HP:0000664
14 oral cleft 32 very rare (1%) HP:0000202
15 trigonocephaly 32 HP:0000243
16 narrow forehead 32 very rare (1%) HP:0000341

GenomeRNAi Phenotypes related to Holoprosencephaly 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-2 9.1 ZIC1 ZIC2
2 Increased Nanog expression GR00371-A-3 9.1 ZIC2 TGIF1

MGI Mouse Phenotypes related to Holoprosencephaly 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.8 TGIF1 ZIC1 ZIC2

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

MalaCards organs/tissues related to Holoprosencephaly 5:

41
Brain

Publications for Holoprosencephaly 5

Variations for Holoprosencephaly 5

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

75 (show all 21)
# Symbol AA change Variation ID SNP ID
1 ZIC2 p.Gln36Pro VAR_023793
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

ClinVar genetic disease variations for Holoprosencephaly 5:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZIC2 NM_007129.4(ZIC2): c.177_178ins56 insertion Pathogenic GRCh37 Chromosome 13, 100634495: 100634496
2 ZIC2 NM_007129.4(ZIC2): c.177_178ins56 insertion Pathogenic GRCh38 Chromosome 13, 99982241: 99982242
3 ZIC2 NM_007129.4(ZIC2): c.1318dupC (p.Leu440Profs) duplication Pathogenic rs397515364 GRCh37 Chromosome 13, 100637655: 100637655
4 ZIC2 NM_007129.4(ZIC2): c.1318dupC (p.Leu440Profs) duplication Pathogenic rs397515364 GRCh38 Chromosome 13, 99985401: 99985401
5 ZIC2 NM_007129.3(ZIC2): c.1366_1368(15_45) NT expansion Pathogenic GRCh37 Chromosome 13, 100637703: 100637705
6 ZIC2 NM_007129.3(ZIC2): c.1366_1368(15_45) NT expansion Pathogenic GRCh38 Chromosome 13, 99985449: 99985451
7 ZIC2 NM_007129.4(ZIC2): c.1040_1046delCCGAGAA (p.Glu348Serfs) deletion Pathogenic rs397515365 GRCh37 Chromosome 13, 100635358: 100635364
8 ZIC2 NM_007129.4(ZIC2): c.1040_1046delCCGAGAA (p.Glu348Serfs) deletion Pathogenic rs397515365 GRCh38 Chromosome 13, 99983104: 99983110
9 ZIC2 ZIC2, 2-BP DEL, 180AC deletion Pathogenic
10 ZIC2 ZIC2, 7-BP DEL, NT392 deletion Pathogenic
11 ZIC2 NM_007129.4(ZIC2): c.936delG (p.Lys312Asnfs) deletion Pathogenic rs397515499 GRCh37 Chromosome 13, 100635254: 100635254
12 ZIC2 NM_007129.4(ZIC2): c.936delG (p.Lys312Asnfs) deletion Pathogenic rs397515499 GRCh38 Chromosome 13, 99983000: 99983000
13 1 bp del G 7 deletion Pathogenic
14 ZIC2 NM_007129.4(ZIC2): c.1091_1092delAG (p.Gln364Leufs) deletion Pathogenic rs397515500 GRCh37 Chromosome 13, 100637215: 100637216
15 ZIC2 NM_007129.4(ZIC2): c.1091_1092delAG (p.Gln364Leufs) deletion Pathogenic rs397515500 GRCh38 Chromosome 13, 99984961: 99984962
16 ZIC2 NM_007129.4(ZIC2): c.1326C> T (p.Ser442=) single nucleotide variant Benign rs182192729 GRCh37 Chromosome 13, 100637663: 100637663
17 ZIC2 NM_007129.4(ZIC2): c.1326C> T (p.Ser442=) single nucleotide variant Benign rs182192729 GRCh38 Chromosome 13, 99985409: 99985409
18 ZIC2 NM_007129.4(ZIC2): c.1245T> G (p.His415Gln) single nucleotide variant Likely pathogenic rs794729641 GRCh37 Chromosome 13, 100637582: 100637582
19 ZIC2 NM_007129.4(ZIC2): c.1245T> G (p.His415Gln) single nucleotide variant Likely pathogenic rs794729641 GRCh38 Chromosome 13, 99985328: 99985328
20 ZIC2 NM_007129.4(ZIC2): c.213G> A (p.Pro71=) single nucleotide variant Benign rs189469383 GRCh37 Chromosome 13, 100634531: 100634531
21 ZIC2 NM_007129.4(ZIC2): c.213G> A (p.Pro71=) single nucleotide variant Benign rs189469383 GRCh38 Chromosome 13, 99982277: 99982277
22 ZIC2 NM_007129.4(ZIC2): c.1097_1098delAG (p.Glu366Valfs) deletion Likely pathogenic rs1060499564 GRCh38 Chromosome 13, 99984967: 99984968
23 ZIC2 NM_007129.4(ZIC2): c.1097_1098delAG (p.Glu366Valfs) deletion Likely pathogenic rs1060499564 GRCh37 Chromosome 13, 100637221: 100637222
24 ZIC2 NM_007129.4(ZIC2): c.793C> T (p.Gln265Ter) single nucleotide variant Pathogenic rs1060499563 GRCh37 Chromosome 13, 100635111: 100635111
25 ZIC2 NM_007129.4(ZIC2): c.793C> T (p.Gln265Ter) single nucleotide variant Pathogenic rs1060499563 GRCh38 Chromosome 13, 99982857: 99982857
26 ZIC2 NM_007129.4(ZIC2): c.1095_1096delTG (p.Cys365Terfs) deletion Pathogenic rs1060499562 GRCh37 Chromosome 13, 100637219: 100637220
27 ZIC2 NM_007129.4(ZIC2): c.1095_1096delTG (p.Cys365Terfs) deletion Pathogenic rs1060499562 GRCh38 Chromosome 13, 99984965: 99984966
28 ZIC2 NM_007129.3: c.1148_1464del deletion Pathogenic
29 ZIC2 NM_007129.4(ZIC2): c.1085_1131del47 (p.Pro362Glnfs) deletion Pathogenic GRCh38 Chromosome 13, 99984955: 99985001
30 ZIC2 NM_007129.4(ZIC2): c.1085_1131del47 (p.Pro362Glnfs) deletion Pathogenic GRCh37 Chromosome 13, 100637209: 100637255
31 ZIC2 NM_007129.4(ZIC2): c.1076-2A> T single nucleotide variant Pathogenic GRCh37 Chromosome 13, 100637198: 100637198
32 ZIC2 NM_007129.4(ZIC2): c.1076-2A> T single nucleotide variant Pathogenic GRCh38 Chromosome 13, 99984944: 99984944
33 ZIC2 NM_007129.4(ZIC2) duplication Pathogenic GRCh38 Chromosome 13, 99985460: 99985489
34 ZIC2 NM_007129.4(ZIC2) duplication Pathogenic GRCh37 Chromosome 13, 100637714: 100637743
35 ZIC2 NM_007129.4(ZIC2): c.716_718delACC (p.His239del) deletion Likely benign GRCh37 Chromosome 13, 100635034: 100635036
36 ZIC2 NM_007129.4(ZIC2): c.716_718delACC (p.His239del) deletion Likely benign GRCh38 Chromosome 13, 99982780: 99982782

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:

# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.33 TGIF1 ZIC1 ZIC2
2 brain development GO:0007420 8.96 ZIC1 ZIC2
3 multicellular organism development GO:0007275 8.8 TGIF1 ZIC1 ZIC2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.33 TGIF1 ZIC1 ZIC2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.26 TGIF1 ZIC1
3 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.13 TGIF1 ZIC1 ZIC2
4 DNA binding transcription factor activity GO:0003700 8.8 TGIF1 ZIC1 ZIC2

Sources for Holoprosencephaly 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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