Holoprosencephaly 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HLP026 MIFTS: 39	Holoprosencephaly 3 Categories: Genetic diseases, Neuronal diseases, Rare diseases, Endocrine diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Holoprosencephaly 3

MalaCards integrated aliases for Holoprosencephaly 3:

Name: Holoprosencephaly 3 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶ ¹⁵ ⁷³

Hpe3 ⁵⁷ ¹² ⁷⁵

Holoprosencephaly-3 ⁷⁵ ¹³

Hlp3 ⁵⁷ ¹²

Holoprosencephaly, Type 3 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant (7q36)

HPO:

³²

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:

OMIM ⁵⁷ 142945

Disease Ontology ¹² DOID:0110875

MedGen ⁴² C1840529

MeSH ⁴⁴ D016142

SNOMED-CT via HPO ⁶⁹ 263681008 43064006 128274005 more

UMLS ⁷³ C1840529

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Summaries for Holoprosencephaly 3

UniProtKB/Swiss-Prot : ⁷⁵ 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 persian gulf syndrome and anus, imperforate. An important gene associated with Holoprosencephaly 3 is SHH (Sonic Hedgehog), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and G alpha (s) signalling events. Affiliated tissues include brain, and related phenotypes are hydronephrosis and malar flattening

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

Description from OMIM: 142945

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Related Diseases for Holoprosencephaly 3

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:

#	Related Disease	Score	Top Affiliating Genes
1	persian gulf syndrome	10.4	ADCYAP1 VIP
2	anus, imperforate	10.0	MNX1 SHH
3	neuronitis	10.0
4	holoprosencephaly	9.7
5	migraine with or without aura 1	9.5	ADCYAP1 NPS VIP

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

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Symptoms & Phenotypes for Holoprosencephaly 3

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neuro:
holoprosencephaly
single brain ventricle

Facies:
proboscis
midface hypoplasia

Eyes:
cyclopia
ocular hypotelorism

GU:
hydronephrosis

Clinical features from OMIM:

142945

Human phenotypes related to Holoprosencephaly 3:

³² (show all 8)

#	Description	HPO Source Accession
1	hydronephrosis ³²	HP:0000126
2	malar flattening ³²	HP:0000272
3	abnormality of the nose ³²	HP:0000366
4	hypotelorism ³²	HP:0000601
5	holoprosencephaly ³²	HP:0001360
6	cyclopia ³²	HP:0009914
7	midface retrusion ³²	HP:0011800
8	proboscis ³²	HP:0012806

MGI Mouse Phenotypes related to Holoprosencephaly 3:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.16	ADCYAP1 EN2 HSPD1 HTR5A KMT2A MNX1
2	cellular	MP:0005384	10.13	MNX1 RUNX2 SHH VIPR1 ADCYAP1 EN2
3	growth/size/body region	MP:0005378	10.11	KMT2C MNX1 RUNX2 SHH VIPR1 VIPR2
4	homeostasis/metabolism	MP:0005376	10.06	VIP VIPR1 VIPR2 ADCYAP1 CYB5A EN2
5	endocrine/exocrine gland	MP:0005379	10.01	FNDC3A HLX MNX1 RUNX2 SHH VIP
6	mortality/aging	MP:0010768	9.9	ADCYAP1 EN2 HLX HSPD1 KMT2A KMT2C
7	liver/biliary system	MP:0005370	9.73	ADCYAP1 CYB5A HLX KMT2A RUNX2 SHH
8	muscle	MP:0005369	9.5	ADCYAP1 HLX HSPD1 KMT2A MNX1 RUNX2
9	reproductive system	MP:0005389	9.32	ADCYAP1 EN2 FNDC3A HSPD1 KMT2A KMT2C

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Drugs & Therapeutics for Holoprosencephaly 3

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 3

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Genetic Tests for Holoprosencephaly 3

Genetic tests related to Holoprosencephaly 3:

#	Genetic test	Affiliating Genes
1	Holoprosencephaly 3 ²⁹	SHH

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Anatomical Context for Holoprosencephaly 3

MalaCards organs/tissues related to Holoprosencephaly 3:

⁴¹

Brain

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Publications for Holoprosencephaly 3

Articles related to Holoprosencephaly 3:

#	Title	Authors	Year
1	Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. ( 8938447 )	Mackay M....Harmar A.J.	1996

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Genes for Holoprosencephaly 3

Genes related to Holoprosencephaly 3 (1 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SHH	Sonic Hedgehog	Protein Coding	1335.71	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301552 20301702 12567406 (more) 8896572 16282375 9302262 10556296 19533790 20425842 18655123 11919111 19478089 17504940
2	VIPR2	Vasoactive Intestinal Peptide Receptor 2	Protein Coding	22.09	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	VIPR1	Vasoactive Intestinal Peptide Receptor 1	Protein Coding	21.85	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	ADCYAP1	Adenylate Cyclase Activating Polypeptide 1	Protein Coding	21.39	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	VIP	Vasoactive Intestinal Peptide	Protein Coding	20.74	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	HTR5A	5-Hydroxytryptamine Receptor 5A	Protein Coding	16.26	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	HLX	H2.0 Like Homeobox	Protein Coding	16.06	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	FNDC3A	Fibronectin Type III Domain Containing 3A	Protein Coding	15.68	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	EN2	Engrailed Homeobox 2	Protein Coding	15.55	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	MNX1	Motor Neuron And Pancreas Homeobox 1	Protein Coding	15.28	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	KMT2C	Lysine Methyltransferase 2C	Protein Coding	15.18	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	CYB5A	Cytochrome B5 Type A	Protein Coding	15.16	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	KMT2A	Lysine Methyltransferase 2A	Protein Coding	14.44	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	CYP2B6	Cytochrome P450 Family 2 Subfamily B Member 6	Protein Coding	14.26	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
15	HSPD1	Heat Shock Protein Family D (Hsp60) Member 1	Protein Coding	14.18	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
16	RUNX2	Runt Related Transcription Factor 2	Protein Coding	13.84	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
17	NPS	Neuropeptide S	Protein Coding	13.52	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
18	HPCAL4	Hippocalcin Like 4	Protein Coding	7.54	DISEASES inferred ¹⁵
19	POTED	POTE Ankyrin Domain Family Member D	Protein Coding	6.7	DISEASES inferred ¹⁵

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Variations for Holoprosencephaly 3

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

⁷⁵ (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
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
48	SHH	p.Phe170Cys	VAR_062609
49	SHH	p.Asp171His	VAR_062610
50	SHH	p.Cys183Arg	VAR_062611

ClinVar genetic disease variations for Holoprosencephaly 3:

⁶

(show top 50) (show all 69)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SHH	NM_000193.3(SHH): c.91G> A (p.Gly31Arg)	single nucleotide variant	Pathogenic	rs28936675	GRCh37	Chromosome 7, 155604726: 155604726
2	SHH	NM_000193.3(SHH): c.91G> A (p.Gly31Arg)	single nucleotide variant	Pathogenic	rs28936675	GRCh38	Chromosome 7, 155812032: 155812032
3	SHH	NM_000193.3(SHH): c.298C> T (p.Gln100Ter)	single nucleotide variant	Pathogenic	rs104894044	GRCh37	Chromosome 7, 155604519: 155604519
4	SHH	NM_000193.3(SHH): c.298C> T (p.Gln100Ter)	single nucleotide variant	Pathogenic	rs104894044	GRCh38	Chromosome 7, 155811825: 155811825
5	SHH	NM_000193.3(SHH): c.313A> T (p.Lys105Ter)	single nucleotide variant	Pathogenic	rs104894045	GRCh37	Chromosome 7, 155599239: 155599239
6	SHH	NM_000193.3(SHH): c.313A> T (p.Lys105Ter)	single nucleotide variant	Pathogenic	rs104894045	GRCh38	Chromosome 7, 155806545: 155806545
7	SHH	NM_000193.3(SHH): c.349T> G (p.Trp117Gly)	single nucleotide variant	Pathogenic	rs104894040	GRCh37	Chromosome 7, 155599203: 155599203
8	SHH	NM_000193.3(SHH): c.349T> G (p.Trp117Gly)	single nucleotide variant	Pathogenic	rs104894040	GRCh38	Chromosome 7, 155806509: 155806509
9	SHH	NM_000193.3(SHH): c.349T> C (p.Trp117Arg)	single nucleotide variant	Pathogenic	rs104894040	GRCh37	Chromosome 7, 155599203: 155599203
10	SHH	NM_000193.3(SHH): c.349T> C (p.Trp117Arg)	single nucleotide variant	Pathogenic	rs104894040	GRCh38	Chromosome 7, 155806509: 155806509
11	SHH	NM_000193.3(SHH): c.671T> A (p.Val224Glu)	single nucleotide variant	Pathogenic	rs104894042	GRCh37	Chromosome 7, 155596312: 155596312
12	SHH	NM_000193.3(SHH): c.671T> A (p.Val224Glu)	single nucleotide variant	Pathogenic	rs104894042	GRCh38	Chromosome 7, 155803618: 155803618
13	SHH	NM_000193.3(SHH): c.676G> A (p.Ala226Thr)	single nucleotide variant	Pathogenic	rs104894043	GRCh37	Chromosome 7, 155596307: 155596307
14	SHH	NM_000193.3(SHH): c.676G> A (p.Ala226Thr)	single nucleotide variant	Pathogenic	rs104894043	GRCh38	Chromosome 7, 155803613: 155803613
15	SHH	NM_000193.3(SHH): c.788_808del21 (p.Arg263_Ala269del)	deletion	Pathogenic	rs397515375	GRCh37	Chromosome 7, 155596175: 155596195
16	SHH	NM_000193.3(SHH): c.788_808del21 (p.Arg263_Ala269del)	deletion	Pathogenic	rs397515375	GRCh38	Chromosome 7, 155803481: 155803501
17	SHH	NM_000193.3(SHH): c.850G> T (p.Glu284Ter)	single nucleotide variant	Pathogenic	rs104894046	GRCh37	Chromosome 7, 155596133: 155596133
18	SHH	NM_000193.3(SHH): c.850G> T (p.Glu284Ter)	single nucleotide variant	Pathogenic	rs104894046	GRCh38	Chromosome 7, 155803439: 155803439
19	SHH	NM_000193.3(SHH): c.1147G> A (p.Ala383Thr)	single nucleotide variant	Pathogenic	rs137853341	GRCh37	Chromosome 7, 155595836: 155595836
20	SHH	NM_000193.3(SHH): c.1147G> A (p.Ala383Thr)	single nucleotide variant	Pathogenic	rs137853341	GRCh38	Chromosome 7, 155803142: 155803142
21	SHH	NM_000193.3(SHH): c.1270C> G (p.Pro424Ala)	single nucleotide variant	Pathogenic	rs104894048	GRCh37	Chromosome 7, 155595713: 155595713
22	SHH	NM_000193.3(SHH): c.1270C> G (p.Pro424Ala)	single nucleotide variant	Pathogenic	rs104894048	GRCh38	Chromosome 7, 155803019: 155803019
23	SHH	NM_000193.3(SHH): c.1132_1140delGCGCCCTTC (p.Ala378_Phe380del)	deletion	Pathogenic	rs397515376	GRCh37	Chromosome 7, 155595843: 155595851
24	SHH	NM_000193.3(SHH): c.1132_1140delGCGCCCTTC (p.Ala378_Phe380del)	deletion	Pathogenic	rs397515376	GRCh38	Chromosome 7, 155803149: 155803157
25	SHH	NM_000193.3(SHH): c.263A> T (p.Asp88Val)	single nucleotide variant	Pathogenic	rs104894050	GRCh37	Chromosome 7, 155604554: 155604554
26	SHH	NM_000193.3(SHH): c.263A> T (p.Asp88Val)	single nucleotide variant	Pathogenic	rs104894050	GRCh38	Chromosome 7, 155811860: 155811860
27	SHH	NM_000193.3(SHH): c.766G> T (p.Glu256Ter)	single nucleotide variant	Pathogenic	rs104894051	GRCh37	Chromosome 7, 155596217: 155596217
28	SHH	NM_000193.3(SHH): c.766G> T (p.Glu256Ter)	single nucleotide variant	Pathogenic	rs104894051	GRCh38	Chromosome 7, 155803523: 155803523
29	SHH	NM_000193.3(SHH): c.383G> A (p.Trp128Ter)	single nucleotide variant	Pathogenic	rs104894053	GRCh37	Chromosome 7, 155599169: 155599169
30	SHH	NM_000193.3(SHH): c.383G> A (p.Trp128Ter)	single nucleotide variant	Pathogenic	rs104894053	GRCh38	Chromosome 7, 155806475: 155806475
31	SHH	NM_000193.3(SHH): c.345C> A (p.Asn115Lys)	single nucleotide variant	Pathogenic	rs267607047	GRCh37	Chromosome 7, 155599207: 155599207
32	SHH	NM_000193.3(SHH): c.345C> A (p.Asn115Lys)	single nucleotide variant	Pathogenic	rs267607047	GRCh38	Chromosome 7, 155806513: 155806513
33		NM_000193.2: c.1308C> T	single nucleotide variant	Pathogenic
34	SHH	NM_000193.3(SHH): c.1210_1224delGGGGACCGCGGGGGC (p.Asp405_Gly409del)	deletion	Pathogenic	rs587778786	GRCh37	Chromosome 7, 155595759: 155595773
35	SHH	NM_000193.3(SHH): c.1210_1224delGGGGACCGCGGGGGC (p.Asp405_Gly409del)	deletion	Pathogenic	rs587778786	GRCh38	Chromosome 7, 155803065: 155803079
36	SHH	NM_000193.3(SHH): c.9_10insGCTG (p.Leu4Alafs)	insertion	Pathogenic	rs587778788	GRCh37	Chromosome 7, 155604807: 155604808
37	SHH	NM_000193.3(SHH): c.9_10insGCTG (p.Leu4Alafs)	insertion	Pathogenic	rs587778788	GRCh38	Chromosome 7, 155812113: 155812114
38	SHH	NM_000193.3(SHH): c.38_45delTCTCCTCG (p.Val13Alafs)	deletion	Pathogenic	rs587778789	GRCh37	Chromosome 7, 155604772: 155604779
39	SHH	NM_000193.3(SHH): c.38_45delTCTCCTCG (p.Val13Alafs)	deletion	Pathogenic	rs587778789	GRCh38	Chromosome 7, 155812078: 155812085
40	SHH	NM_000193.3(SHH): c.300G> C (p.Gln100His)	single nucleotide variant	Pathogenic	rs587778792	GRCh37	Chromosome 7, 155604517: 155604517
41	SHH	NM_000193.3(SHH): c.300G> C (p.Gln100His)	single nucleotide variant	Pathogenic	rs587778792	GRCh38	Chromosome 7, 155811823: 155811823
42	SHH	NM_000193.3(SHH): c.474C> G (p.Tyr158Ter)	single nucleotide variant	Pathogenic	rs146990376	GRCh37	Chromosome 7, 155599078: 155599078
43	SHH	NM_000193.3(SHH): c.474C> G (p.Tyr158Ter)	single nucleotide variant	Pathogenic	rs146990376	GRCh38	Chromosome 7, 155806384: 155806384
44	SHH	NM_000193.3(SHH): c.562G> C (p.Glu188Gln)	single nucleotide variant	Pathogenic	rs587778799	GRCh37	Chromosome 7, 155598990: 155598990
45	SHH	NM_000193.3(SHH): c.562G> C (p.Glu188Gln)	single nucleotide variant	Pathogenic	rs587778799	GRCh38	Chromosome 7, 155806296: 155806296
46	SHH	NM_000193.3(SHH): c.625C> T (p.Gln209Ter)	single nucleotide variant	Pathogenic	rs587778803	GRCh37	Chromosome 7, 155596358: 155596358
47	SHH	NM_000193.3(SHH): c.625C> T (p.Gln209Ter)	single nucleotide variant	Pathogenic	rs587778803	GRCh38	Chromosome 7, 155803664: 155803664
48	SHH	NM_000193.3(SHH): c.664G> A (p.Asp222Asn)	single nucleotide variant	Pathogenic	rs587778805	GRCh37	Chromosome 7, 155596319: 155596319
49	SHH	NM_000193.3(SHH): c.664G> A (p.Asp222Asn)	single nucleotide variant	Pathogenic	rs587778805	GRCh38	Chromosome 7, 155803625: 155803625
50	SHH	NM_000193.3(SHH): c.708C> A (p.Ser236Arg)	single nucleotide variant	Pathogenic	rs587778806	GRCh37	Chromosome 7, 155596275: 155596275

Sources

Expression for Holoprosencephaly 3

Search GEO for disease gene expression data for Holoprosencephaly 3.

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Pathways for Holoprosencephaly 3

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

#	Super pathways	Score	Top Affiliating Genes
1	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.47	ADCYAP1 HSPD1 VIPR1 VIPR2
2	G alpha (s) signalling events ⁶⁶	11.19	ADCYAP1 NPS VIP VIPR1 VIPR2
3	Dopaminergic Neurogenesis ¹	10.73	EN2 SHH
4	GPCRs, Class B Secretin-like ¹	10.54	VIPR1 VIPR2

Sources

GO Terms for Holoprosencephaly 3

Cellular components related to Holoprosencephaly 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	histone methyltransferase complex	GO:0035097	8.62	KMT2A KMT2C

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

#	Name	GO ID	Score	Top Affiliating Genes
1	G-protein coupled receptor signaling pathway	GO:0007186	9.85	ADCYAP1 HTR5A NPS VIP VIPR1 VIPR2
2	cAMP-mediated signaling	GO:0019933	9.46	ADCYAP1 HTR5A
3	embryonic forelimb morphogenesis	GO:0035115	9.43	RUNX2 SHH
4	positive regulation of synaptic transmission, glutamatergic	GO:0051968	9.4	ADCYAP1 NPS
5	hindbrain development	GO:0030902	9.32	EN2 SHH
6	embryonic digestive tract morphogenesis	GO:0048557	9.26	HLX SHH
7	histone H3-K4 methylation	GO:0051568	9.16	KMT2A KMT2C
8	positive regulation of cell proliferation	GO:0008284	9.1	ADCYAP1 HLX RUNX2 SHH VIP VIPR1
9	osteoblast development	GO:0002076	8.96	RUNX2 SHH

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	ADCYAP1 VIP
2	histone methyltransferase activity (H3-K4 specific)	GO:0042800	8.96	KMT2A KMT2C
3	vasoactive intestinal polypeptide receptor activity	GO:0004999	8.62	VIPR1 VIPR2

Sources

Sources for Holoprosencephaly 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia