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HPE3
MCID: HLP026
MIFTS: 48

Holoprosencephaly 3 (HPE3)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Holoprosencephaly 3

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MalaCards integrated aliases for Holoprosencephaly 3:

Name: Holoprosencephaly 3 56 12 73 29 6 15 71
Hpe3 56 12 73
Holoprosencephaly-3 73 13
Hlp3 56 12
Holoprosencephaly, Type 3 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present
severe alobar form may result in death in infancy
mild form may include microcephaly, hypotelorism, and single maxillary central incisor


HPO:

31
holoprosencephaly 3:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0110875
OMIM 56 142945
OMIM Phenotypic Series 56 PS236100
MeSH 43 D016142
MedGen 41 C1840529
UMLS 71 C1840529
Sources

Summaries for Holoprosencephaly 3

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UniProtKB/Swiss-Prot : 73 Holoprosencephaly 3: 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. The majority of holoprosencephaly type 3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described.

MalaCards based summary : Holoprosencephaly 3, also known as hpe3, is related to holoprosencephaly and radial hemimelia. An important gene associated with Holoprosencephaly 3 is SHH (Sonic Hedgehog Signaling Molecule), and among its related pathways/superpathways are cAMP signaling pathway and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A holoprosencephaly that has material basis in heterozygous mutation in the SHH gene on chromosome 7q36.

More information from OMIM: 142945 PS236100
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Related Diseases for Holoprosencephaly 3

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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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 27.2 ZRS ZIC2 VIPR2 VIP SIX3 SHH
2 radial hemimelia 10.4 SHH LMBR1
3 mesomelia 10.3 ZRS LMBR1
4 gastric leiomyoma 10.2 VIPR2 VIPR1
5 acheiropody 10.2 SHH LMBR1
6 syndactyly, type iv 10.2 ZRS SHH LMBR1
7 polydactyly, preaxial ii 10.2 ZRS SHH LMBR1
8 tibia, hypoplasia or aplasia of, with polydactyly 10.2 ZRS SHH LMBR1
9 hemimelia 10.2 ZRS GLI2
10 laurin-sandrow syndrome 10.1 ZRS SHH LMBR1
11 melanotic medulloblastoma 10.1 SHH GLI2
12 cluster headache 10.1 VIP ADCYAP1
13 persian gulf syndrome 10.1 VIP ADCYAP1
14 nodular medulloblastoma 10.1 SHH GLI2
15 holoprosencephaly 8 10.0 ZIC2 DISP1
16 central nervous system lipoma 10.0 ZIC2 SIX3
17 adult medulloblastoma 10.0 SHH GLI2
18 anus, imperforate 10.0 SHH GLI2
19 greig cephalopolysyndactyly syndrome 10.0 SHH LMBR1 GLI2
20 holoprosencephaly, recurrent infections, and monocytosis 10.0 SIX3 GLI2
21 schizencephaly 9.9 SIX3 SHH
22 refractive error 9.8 ZIC2 VIPR2 VIP
23 colobomatous microphthalmia 9.8 SIX3 SHH
24 culler-jones syndrome 9.8 SIX3 SHH GLI2
25 polydactyly 9.8 ZRS SHH LMBR1 GLI2
26 fetal alcohol syndrome 9.8 VIP SHH
27 hirschsprung disease 1 9.7 VIP SHH ADCYAP1
28 septooptic dysplasia 9.7 SIX3 SHH GLI2
29 holoprosencephaly 7 9.7 ZIC2 SIX3 DISP1
30 orofaciodigital syndrome viii 9.7 ZIC2 SIX3 DISP1
31 hypopituitarism 9.7 SIX3 SHH GLI2
32 migraine with or without aura 1 9.7 VIPR2 VIPR1 VIP ADCYAP1
33 patau syndrome 9.6 ZIC2 SIX3 SHH DISP1
34 holoprosencephaly 1 9.5 ZIC2 SIX3 SHH GLI2
35 corpus callosum lipoma 9.5 ZIC2 SIX3 SHH GLI2
36 cerebral hemisphere lipoma 9.5 ZIC2 SIX3 SHH GLI2
37 pallister-hall syndrome 9.5 ZIC2 SIX3 SHH GLI2
38 congenital nervous system abnormality 9.5 ZIC2 SIX3 SHH GLI2
39 coloboma of macula 9.5 ZIC2 SIX3 SHH GLI2
40 orofacial cleft 9.4 ZIC2 SIX3 SHH GLI2
41 physical disorder 9.3 ZIC2 SIX3 SHH LMBR1 GLI2
42 holoprosencephaly 9 9.2 ZIC2 SIX3 SHH GLI2 DISP1
43 midline interhemispheric variant of holoprosencephaly 9.2 ZIC2 SIX3 SHH GLI2 DISP1
44 septopreoptic holoprosencephaly 9.2 ZIC2 SIX3 SHH GLI2 DISP1
45 holoprosencephaly 5 9.2 ZIC2 SIX3 SHH GLI2 DISP1
46 holoprosencephaly 2 9.2 ZIC2 SIX3 SHH GLI2 DISP1
47 alobar holoprosencephaly 9.2 ZIC2 SIX3 SHH GLI2 DISP1
48 lobar holoprosencephaly 9.2 ZIC2 SIX3 SHH GLI2 DISP1
49 holoprosencephaly 4 9.2 ZIC2 SIX3 SHH GLI2 DISP1
50 microform holoprosencephaly 9.2 ZIC2 SIX3 SHH GLI2 DISP1

Graphical network of the top 20 diseases related to Holoprosencephaly 3:



Diseases related to Holoprosencephaly 3
Sources

Symptoms & Phenotypes for Holoprosencephaly 3

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Human phenotypes related to Holoprosencephaly 3:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 depressed nasal bridge 31 HP:0005280
4 microcephaly 31 HP:0000252
5 hydronephrosis 31 HP:0000126
6 holoprosencephaly 31 HP:0001360
7 ventriculomegaly 31 HP:0002119
8 proptosis 31 HP:0000520
9 malar flattening 31 HP:0000272
10 hypotelorism 31 HP:0000601
11 midface retrusion 31 HP:0011800
12 single median maxillary incisor 31 HP:0006315
13 cyclopia 31 HP:0009914
14 bifid uvula 31 HP:0000193
15 short columella 31 HP:0002000
16 central diabetes insipidus 31 HP:0000863
17 cleft lip 31 HP:0410030
18 single naris 31 HP:0009932
19 proboscis 31 HP:0012806

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

Head And Neck Eyes:
hypotelorism
prominent eyes
synophthalmia (in some patients)

Endocrine Features:
central diabetes insipidus

Head And Neck Face:
midface hypoplasia

Head And Neck Teeth:
single central upper incisor

Head And Neck Mouth:
cleft palate
bifid uvula
cleft lip

Head And Neck Nose:
short columella
flat nasal bridge
single nostril
proboscis (in some patients)

Neurologic Central Nervous System:
developmental delay
mental retardation
holoprosencephaly (lobar or alobar)
dilated ventricles
single anterior ventricle

Head And Neck Ears:
hearing deficits

Clinical features from OMIM:

142945

MGI Mouse Phenotypes related to Holoprosencephaly 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 ADCYAP1 GLI2 HPCAL4 KLHL8 SHH VIP
2 growth/size/body region MP:0005378 9.91 ADCYAP1 DISP1 GLI2 LMBR1 SHH SIX3
3 endocrine/exocrine gland MP:0005379 9.87 DISP1 GLI2 SHH VIP VIPR1 VIPR2
4 digestive/alimentary MP:0005381 9.85 DISP1 GLI2 SHH SIX3 VIPR1 ZIC2
5 limbs/digits/tail MP:0005371 9.55 DISP1 GLI2 LMBR1 SHH ZIC2
6 respiratory system MP:0005388 9.43 DISP1 GLI2 SHH SIX3 VIP ZIC2
7 vision/eye MP:0005391 9.17 ADCYAP1 DISP1 GLI2 SHH SIX3 VIP
Sources

Drugs & Therapeutics for Holoprosencephaly 3

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Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 3

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Genetic Tests for Holoprosencephaly 3

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Genetic tests related to Holoprosencephaly 3:

# Genetic test Affiliating Genes
1 Holoprosencephaly 3 29 SHH
Sources

Anatomical Context for Holoprosencephaly 3

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MalaCards organs/tissues related to Holoprosencephaly 3:

40
Brain, Eye
Sources

Publications for Holoprosencephaly 3

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Articles related to Holoprosencephaly 3:

(show all 48)
# Title Authors PMID Year
1
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. 56 6 61
8896572 1996
2
A sonic hedgehog missense mutation associated with holoprosencephaly causes defective binding to GAS1. 56 6
19478089 2009
3
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. 56 6
12567406 2003
4
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. 6 56
10556296 1999
5
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. 61 56
8896571 1996
6
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. 56 61
8058764 1994
7
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. 56
21976454 2011
8
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. 56
21940735 2011
9
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. 56
20531442 2010
10
Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients. 56
20583177 2010
11
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies. 6
20425842 2010
12
Mutational analysis of SHH and GLI3 in anorectal malformations. 6
18655123 2008
13
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. 56
16199538 2006
14
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. 56
16323008 2006
15
Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. 6
16282375 2005
16
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 56
15221788 2004
17
Microphthalmia/Anophthalmia/Coloboma Spectrum – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301552 2004
18
SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity. 6
12709790 2003
19
Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly. 6
11919111 2002
20
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly. 56
11479728 2001
21
Holoprosencephaly Overview 6
20301702 2000
22
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency.. 56
10852374 2000
23
Skewed sex ratios in familial holoprosencephaly and in people with isolated single maxillary central incisor. 56
10594002 1999
24
Segregation analysis in nonsyndromic holoprosencephaly. 56
9605287 1998
25
Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly. 56
9391882 1997
26
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. 6
9302262 1997
27
Physical mapping of the holoprosencephaly critical region on chromosome 7q36. 56
8485580 1993
28
[Single maxillary central incisor and holoprosencephaly]. 56
1465328 1992
29
Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36. 56
1897576 1991
30
Terminal 7q deletion as a cause of holoprosencephaly. 56
2323097 1990
31
Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis. 56
2309771 1990
32
Holoprosencephaly in a fetus with a 46,XX,der(7), t(7;8)(q36.1;p12) mat karyotype. 56
2241084 1990
33
Holoprosencephaly: a developmental field defect. 56
2629725 1989
34
Case of cyclopia with an unbalanced karyotype attributable to a balanced 3/7 translocation. 56
2805383 1989
35
Microcephaly in familial holoprosencephaly. 56
3209679 1988
36
Single central incisor in familial holoprosencephaly. 56
6726520 1984
37
[Familial occurrence of cyclops over several generations]. 56
6820862 1982
38
Cyclopism as a hereditary malformation. 56
5647374 1968
39
Central nervous system anomalies diagnosed antenatally and post-delivery management. 61
20231929 2010
40
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature. 61
16143022 2005
41
Novel human HALR (MLL3) gene encodes a protein homologous to ALR and to ALL-1 involved in leukemia, and maps to chromosome 7q36 associated with leukemia and developmental defects. 61
11718452 2001
42
Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q. 61
9508065 1998
43
De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly. 61
9450876 1998
44
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. 61
9254845 1997
45
Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. 61
8938447 1996
46
Currarino triad with a terminal deletion 7q35-->qter. 61
8933345 1996
47
[New clinical phase in intrauterine diagnosis and therapeutic modalities of CNS anomalies]. 61
2687709 1989
48
Magnetic resonance imaging of supratentorial congenital brain malformations. 61
2671396 1989
Sources

Variations for Holoprosencephaly 3

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ClinVar genetic disease variations for Holoprosencephaly 3:

6 (show top 50) (show all 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SHH NM_000193.4(SHH):c.851_873del (p.Glu284fs)deletion Pathogenic 464839 rs1554493810 7:155596110-155596132 7:155803416-155803438
2 SHH NM_000193.4(SHH):c.1307C>A (p.Ser436Ter)SNV Pathogenic 545579 rs1554493607 7:155595676-155595676 7:155802982-155802982
3 SHH NM_000193.4(SHH):c.1040C>T (p.Pro347Leu)SNV Pathogenic 545575 rs886042458 7:155595943-155595943 7:155803249-155803249
4 SHH NM_000193.4(SHH):c.214C>T (p.Arg72Ter)SNV Pathogenic 545582 rs779093031 7:155604603-155604603 7:155811909-155811909
5 SHH NM_000193.4(SHH):c.419_423dup (p.Glu142fs)duplication Pathogenic 646865 7:155599128-155599129 7:155806434-155806435
6 SHH NM_000193.4(SHH):c.100_101del (p.Arg34fs)deletion Pathogenic 689618 7:155604716-155604717 7:155812022-155812023
7 SHH NM_000193.4(SHH):c.91G>A (p.Gly31Arg)SNV Pathogenic 8877 rs28936675 7:155604726-155604726 7:155812032-155812032
8 SHH NM_000193.4(SHH):c.298C>T (p.Gln100Ter)SNV Pathogenic 8878 rs104894044 7:155604519-155604519 7:155811825-155811825
9 SHH NM_000193.4(SHH):c.313A>T (p.Lys105Ter)SNV Pathogenic 8879 rs104894045 7:155599239-155599239 7:155806545-155806545
10 SHH NM_000193.4(SHH):c.349T>G (p.Trp117Gly)SNV Pathogenic 8880 rs104894040 7:155599203-155599203 7:155806509-155806509
11 SHH NM_000193.4(SHH):c.349T>C (p.Trp117Arg)SNV Pathogenic 8881 rs104894040 7:155599203-155599203 7:155806509-155806509
12 SHH NM_000193.4(SHH):c.671T>A (p.Val224Glu)SNV Pathogenic 8882 rs104894042 7:155596312-155596312 7:155803618-155803618
13 SHH NM_000193.4(SHH):c.788_808del (p.Arg263_Ala269del)deletion Pathogenic 8884 rs397515375 7:155596175-155596195 7:155803481-155803501
14 SHH NM_000193.4(SHH):c.850G>T (p.Glu284Ter)SNV Pathogenic 8885 rs104894046 7:155596133-155596133 7:155803439-155803439
15 SHH NM_000193.4(SHH):c.1270C>G (p.Pro424Ala)SNV Pathogenic 8888 rs104894048 7:155595713-155595713 7:155803019-155803019
16 SHH NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del)deletion Pathogenic 8889 rs397515376 7:155595843-155595851 7:155803149-155803157
17 SHH NM_000193.4(SHH):c.263A>T (p.Asp88Val)SNV Pathogenic 8891 rs104894050 7:155604554-155604554 7:155811860-155811860
18 SHH NM_000193.4(SHH):c.766G>T (p.Glu256Ter)SNV Pathogenic 8893 rs104894051 7:155596217-155596217 7:155803523-155803523
19 SHH NM_000193.4(SHH):c.383G>A (p.Trp128Ter)SNV Pathogenic 8895 rs104894053 7:155599169-155599169 7:155806475-155806475
20 SHH NM_000193.4(SHH):c.345C>A (p.Asn115Lys)SNV Pathogenic 8896 rs267607047 7:155599207-155599207 7:155806513-155806513
21 NM_000193.2:c.1308C>TSNV Pathogenic 65846
22 SHH NM_000193.4(SHH):c.1212_1226del (p.Asp405_Gly409del)deletion Pathogenic 65849 rs587778786 7:155595757-155595771 7:155803063-155803077
23 SHH NM_000193.4(SHH):c.6_9dup (p.Leu4fs)duplication Pathogenic 65853 rs587778788 7:155604807-155604808 7:155812113-155812114
24 SHH NM_000193.4(SHH):c.38_45del (p.Val13fs)deletion Pathogenic 65854 rs587778789 7:155604772-155604779 7:155812078-155812085
25 SHH NM_000193.4(SHH):c.664G>A (p.Asp222Asn)SNV Pathogenic 65887 rs587778805 7:155596319-155596319 7:155803625-155803625
26 SHH NM_000193.4(SHH):c.300G>C (p.Gln100His)SNV Pathogenic 65860 rs587778792 7:155604517-155604517 7:155811823-155811823
27 SHH NM_000193.4(SHH):c.474C>G (p.Tyr158Ter)SNV Pathogenic 65872 rs146990376 7:155599078-155599078 7:155806384-155806384
28 SHH NM_000193.4(SHH):c.562G>C (p.Glu188Gln)SNV Pathogenic 65876 rs587778799 7:155598990-155598990 7:155806296-155806296
29 SHH NM_000193.4(SHH):c.708C>A (p.Ser236Arg)SNV Pathogenic 65892 rs587778806 7:155596275-155596275 7:155803581-155803581
30 SHH NM_000193.4(SHH):c.625C>T (p.Gln209Ter)SNV Pathogenic 65883 rs587778803 7:155596358-155596358 7:155803664-155803664
31 SHH NM_000193.4(SHH):c.1284del (p.Thr429fs)deletion Pathogenic 374270 rs1057518660 7:155595699-155595699 7:155803005-155803005
32 SHH NM_000193.4(SHH):c.676G>A (p.Ala226Thr)SNV Pathogenic/Likely pathogenic 8883 rs104894043 7:155596307-155596307 7:155803613-155803613
33 SHH NM_000193.4(SHH):c.300+2T>CSNV Likely pathogenic 651974 7:155604515-155604515 7:155811821-155811821
34 SHH NM_000193.4(SHH):c.796C>T (p.Leu266Phe)SNV Likely pathogenic 545580 rs1420292012 7:155596187-155596187 7:155803493-155803493
35 SHH NM_000193.4(SHH):c.143del (p.Ile48fs)deletion Likely pathogenic 495245 rs1554495331 7:155604674-155604674 7:155811980-155811980
36 SHH NM_000193.4(SHH):c.876G>A (p.Gly292=)SNV Conflicting interpretations of pathogenicity 65911 rs112055654 7:155596107-155596107 7:155803413-155803413
37 SHH NM_000193.4(SHH):c.1078C>T (p.Leu360=)SNV Conflicting interpretations of pathogenicity 196230 rs191903572 7:155595905-155595905 7:155803211-155803211
38 SHH NM_000193.4(SHH):c.1171G>A (p.Ala391Thr)SNV Uncertain significance 430943 rs1131692264 7:155595812-155595812 7:155803118-155803118
39 SHH NM_000193.4(SHH):c.643_645del (p.Val215del)deletion Uncertain significance 464838 rs1554493872 7:155596338-155596340 7:155803644-155803646
40 SHH NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)SNV Uncertain significance 8886 rs137853341 7:155595836-155595836 7:155803142-155803142
41 SHH NM_000193.4(SHH):c.861G>T (p.Ala287=)SNV Likely benign 744542 7:155596122-155596122 7:155803428-155803428
42 SHH NM_000193.4(SHH):c.885C>T (p.Ser295=)SNV Likely benign 65912 rs549625672 7:155596098-155596098 7:155803404-155803404
43 SHH NM_000193.4(SHH):c.183G>T (p.Arg61Ser)SNV Likely benign 783156 7:155604634-155604634 7:155811940-155811940
44 SHH NM_000193.4(SHH):c.756C>T (p.Phe252=)SNV Likely benign 787852 7:155596227-155596227 7:155803533-155803533
45 SHH NM_000193.4(SHH):c.213G>A (p.Glu71=)SNV Likely benign 533432 rs200317108 7:155604604-155604604 7:155811910-155811910
46 SHH NM_000193.4(SHH):c.869G>A (p.Gly290Asp)SNV Benign/Likely benign 8887 rs104894047 7:155596114-155596114 7:155803420-155803420
47 SHH NM_000193.4(SHH):c.570G>A (p.Ser190=)SNV Benign/Likely benign 65877 rs9333633 7:155596413-155596413 7:155803719-155803719
48 SHH NM_000193.4(SHH):c.585G>A (p.Ser195=)SNV Benign 65879 rs372353493 7:155596398-155596398 7:155803704-155803704
49 SHH NM_000193.4(SHH):c.1005G>A (p.Val335=)SNV Benign 65824 rs587778774 7:155595978-155595978 7:155803284-155803284
50 SHH NM_022458.4(LMBR1):c.423+4516C>GSNV Benign 768220 7:156584567-156584567 7:156791873-156791873

UniProtKB/Swiss-Prot genetic disease variations for Holoprosencephaly 3:

73 (show top 50) (show all 79)
# Symbol AA change Variation ID SNP ID
1 SHH p.Gly31Arg VAR_003619 rs28936675
2 SHH p.Trp117Gly VAR_003620 rs104894040
3 SHH p.Trp117Arg VAR_003621 rs104894040
4 SHH p.Asp88Val VAR_009163 rs104894050
5 SHH p.Gln100His VAR_009164 rs587778792
6 SHH p.Asn115Lys VAR_009165 rs267607047
7 SHH p.Glu188Gln VAR_009166 rs587778799
8 SHH p.Asp222Asn VAR_009167 rs587778805
9 SHH p.Val224Glu VAR_009168 rs104894042
10 SHH p.Ala226Thr VAR_009169 rs104894043
11 SHH p.Ser236Arg VAR_009170 rs587778806
12 SHH p.Gly290Asp VAR_009172 rs104894047
13 SHH p.Ala383Thr VAR_009174 rs137853341
14 SHH p.Pro424Ala VAR_009176 rs104894048
15 SHH p.Ser436Leu VAR_009177
16 SHH p.Arg6Thr VAR_023804
17 SHH p.Ala110Asp VAR_023806
18 SHH p.Thr150Arg VAR_023807
19 SHH p.Leu271Pro VAR_023809
20 SHH p.Val332Ala VAR_023810 rs104894052
21 SHH p.Pro347Gln VAR_023811
22 SHH p.Ile354Thr VAR_023812
23 SHH p.Arg381Pro VAR_023813
24 SHH p.Gly27Ala VAR_039888
25 SHH p.Ile111Asn VAR_039889
26 SHH p.His140Pro VAR_039890
27 SHH p.His140Gln VAR_039891
28 SHH p.Cys183Phe VAR_039892
29 SHH p.Thr267Ile VAR_039893
30 SHH p.Ala373Thr VAR_039894
31 SHH p.Leu17Pro VAR_062592
32 SHH p.Pro26Leu VAR_062593
33 SHH p.Leu39Pro VAR_062594 rs142891682
34 SHH p.Glu53Lys VAR_062595
35 SHH p.Asp83Val VAR_062596
36 SHH p.Ile84Phe VAR_062597
37 SHH p.Cys102Arg VAR_062598
38 SHH p.Cys102Tyr VAR_062599
39 SHH p.Leu109Phe VAR_062600
40 SHH p.Ala110Thr VAR_062601
41 SHH p.Val124Met VAR_062602
42 SHH p.Glu136Lys VAR_062603
43 SHH p.Gly143Asp VAR_062604
44 SHH p.Arg144Pro VAR_062605
45 SHH p.Asp147Asn VAR_062606
46 SHH p.Thr150Lys VAR_062607
47 SHH p.Ser156Arg VAR_062608 rs155449437
48 SHH p.Phe170Cys VAR_062609
49 SHH p.Asp171His VAR_062610
50 SHH p.Cys183Arg VAR_062611

Sources

Expression for Holoprosencephaly 3

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Search GEO for disease gene expression data for Holoprosencephaly 3.
Sources

Pathways for Holoprosencephaly 3

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Pathways related to Holoprosencephaly 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
cAMP signaling pathway 36
11.91 VIPR2 VIP ADCYAP1
2
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.54 VIPR2 VIPR1 ADCYAP1
3
Hedgehog signaling events mediated by Gli proteins 1
11.1 SHH GLI2
4
G alpha (s) signalling events 65
11.09 VIPR2 VIPR1 VIP ADCYAP1
5
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.02 SHH GLI2
6
Signaling events mediated by the Hedgehog family 1
Show member pathways
 10.85 SHH GLI2
7
Dopaminergic Neurogenesis 1
10.8 SHH GLI2
8
GPCRs, Class B Secretin-like 1
10.64 VIPR2 VIPR1
9
Hedgehog Signaling Pathway (WikiPathways) 1
Show member pathways
 10.23 SHH GLI2
Sources

GO Terms for Holoprosencephaly 3

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Biological processes related to Holoprosencephaly 3 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.02 ZIC2 SIX3 SHH GLI2 DISP1
2 positive regulation of cell proliferation GO:0008284 9.85 VIPR1 VIP SHH GLI2 ADCYAP1
3 central nervous system development GO:0007417 9.73 ZIC2 SHH HPCAL4
4 activation of adenylate cyclase activity GO:0007190 9.63 VIPR2 ADCYAP1
5 negative regulation of smooth muscle cell proliferation GO:0048662 9.62 VIPR2 VIP
6 developmental growth GO:0048589 9.61 SHH GLI2
7 hair follicle morphogenesis GO:0031069 9.61 SHH GLI2
8 anatomical structure development GO:0048856 9.61 SIX3 SHH GLI2
9 embryonic pattern specification GO:0009880 9.6 SHH DISP1
10 branching morphogenesis of an epithelial tube GO:0048754 9.59 SHH GLI2
11 positive regulation of blood vessel diameter GO:0097755 9.58 VIP ADCYAP1
12 spinal cord motor neuron differentiation GO:0021522 9.58 SHH GLI2
13 embryonic digit morphogenesis GO:0042733 9.58 SHH LMBR1 GLI2
14 hindbrain development GO:0030902 9.57 SHH GLI2
15 osteoblast development GO:0002076 9.55 SHH GLI2
16 anatomical structure formation involved in morphogenesis GO:0048646 9.54 SHH GLI2
17 dorsal/ventral neural tube patterning GO:0021904 9.52 SHH GLI2
18 negative regulation of potassium ion transport GO:0043267 9.51 VIP ADCYAP1
19 positive regulation of T cell differentiation in thymus GO:0033089 9.49 SHH GLI2
20 telencephalon regionalization GO:0021978 9.48 SIX3 SHH
21 spinal cord dorsal/ventral patterning GO:0021513 9.37 SHH GLI2
22 dorsal/ventral pattern formation GO:0009953 9.33 SHH GLI2 DISP1
23 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.32 SHH GLI2
24 hindgut morphogenesis GO:0007442 9.26 SHH GLI2
25 ventral midline development GO:0007418 8.96 SHH GLI2
26 pituitary gland development GO:0021983 8.8 SIX3 GLI2 ADCYAP1

Molecular functions related to Holoprosencephaly 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuropeptide hormone activity GO:0005184 9.16 VIP ADCYAP1
2 peptide hormone receptor binding GO:0051428 8.96 VIP ADCYAP1
3 vasoactive intestinal polypeptide receptor activity GO:0004999 8.62 VIPR2 VIPR1
Sources

Sources for Holoprosencephaly 3

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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