Menke-Hennekam Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MNK007 MIFTS: 20	Menke-Hennekam Syndrome Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Menke-Hennekam Syndrome

MalaCards integrated aliases for Menke-Hennekam Syndrome:

Name: Menke-Hennekam Syndrome ⁵⁸

Syndrome, Menke-Hennekam ³⁹

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases Nephrological diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare renal diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁸ ORPHA592574

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Summaries for Menke-Hennekam Syndrome

MalaCards based summary : Menke-Hennekam Syndrome, also known as syndrome, menke-hennekam, is related to hennekam syndrome and otopalatodigital syndrome, type i. An important gene associated with Menke-Hennekam Syndrome is CREBBP (CREB Binding Protein), and among its related pathways/superpathways are nNOS Signaling in Skeletal Muscle and Relaxin signaling pathway.

Wikipedia : ⁷⁴ Menke-Hennekam syndrome is a rare condition characterised by a constellation of lesions mostly involving... more...

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Related Diseases for Menke-Hennekam Syndrome

Diseases in the Menke-Hennekam Syndrome family:

Menke-Hennekam Syndrome 1

Menke-Hennekam Syndrome 2

Diseases related to Menke-Hennekam Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)

#	Related Disease	Score	Top Affiliating Genes
1	hennekam syndrome	30.1	EP300 CREBBP
2	otopalatodigital syndrome, type i	30.0	EP300 CREBBP
3	chromosome 16p13.3 deletion syndrome, proximal	30.0	EP300 CREBBP
4	menke-hennekam syndrome 2	11.9
5	menke-hennekam syndrome 1	11.9
6	alacrima, achalasia, and mental retardation syndrome	10.2
7	microcephaly	10.2
8	thumb deformity	9.8	EP300 CREBBP
9	human t-cell leukemia virus type 2	9.8	EP300 CREBBP
10	rubinstein-taybi syndrome 1	9.8	EP300 CREBBP
11	human t-cell leukemia virus type 1	9.8	EP300 CREBBP
12	rare genetic intellectual disability	9.8	EP300 CREBBP
13	nut midline carcinoma	9.8	EP300 CREBBP
14	leukemia, acute monocytic	9.8	EP300 CREBBP
15	chromosomal deletion syndrome	9.8	EP300 CREBBP
16	kabuki syndrome 1	9.8	EP300 CREBBP
17	bladder urothelial carcinoma	9.8	EP300 CREBBP
18	chromosomal disease	9.8	EP300 CREBBP
19	hypoxia	9.7	EP300 CREBBP
20	cornelia de lange syndrome	9.7	EP300 CREBBP
21	lung squamous cell carcinoma	9.7	EP300 CREBBP
22	t-cell lymphoblastic leukemia/lymphoma	9.7	EP300 CREBBP
23	diffuse large b-cell lymphoma	9.7	EP300 CREBBP
24	autosomal dominant non-syndromic intellectual disability	9.6	EP300 CREBBP
25	gastrointestinal stromal tumor	9.6	EP300 CREBBP
26	hematologic cancer	9.5	EP300 CREBBP

Graphical network of the top 20 diseases related to Menke-Hennekam Syndrome:

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Symptoms & Phenotypes for Menke-Hennekam Syndrome

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Drugs & Therapeutics for Menke-Hennekam Syndrome

Search Clinical Trials , NIH Clinical Center for Menke-Hennekam Syndrome

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Genetic Tests for Menke-Hennekam Syndrome

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Anatomical Context for Menke-Hennekam Syndrome

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Publications for Menke-Hennekam Syndrome

Articles related to Menke-Hennekam Syndrome:

#	Title	Authors	PMID	Year
1	Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. ⁶¹	Banka S...Clayton-Smith J	30892814	2019

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Genes for Menke-Hennekam Syndrome

Genes related to Menke-Hennekam Syndrome (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CREBBP	CREB Binding Protein	Protein Coding	18.66	GeneCards inferred via : Disorders Variants (show sections)
2	EP300	E1A Binding Protein P300	Protein Coding	18.02	GeneCards inferred via : Disorders Variants (show sections)

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Variations for Menke-Hennekam Syndrome

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Expression for Menke-Hennekam Syndrome

Search GEO for disease gene expression data for Menke-Hennekam Syndrome.

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Pathways for Menke-Hennekam Syndrome

Pathways related to Menke-Hennekam Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 74)

#	Super pathways	Score	Top Affiliating Genes
1	nNOS Signaling in Skeletal Muscle ⁶³ Show member pathways BMP Pathway ⁶³ Calpain Protease Regulates Cellular Mechanics ⁶³ Caspase Cascade ⁶³ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁵ DREAM Repression and Dynorphin Expression ⁶³ TOB in Osteoblast Signaling ⁶³	12.35	EP300 CREBBP
2	Relaxin signaling pathway ³⁶ Show member pathways Estrogen signaling pathway ³⁶ Growth hormone synthesis, secretion and action ³⁶ Relaxin receptors ⁶⁵	12.34	EP300 CREBBP
3	ErbB signaling pathway ³⁶ ¹ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ³⁶ Renal cell carcinoma ³⁶ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.3	EP300 CREBBP
4	Notch Signaling Pathway (WikiPathways) ³⁶ Show member pathways Notch signaling pathway ¹ Notch Signaling Pathway ¹ Notch Signaling Pathway ¹ Notch Signaling Pathways ⁶⁴	12.25	EP300 CREBBP
5	Cytosolic sensors of pathogen-associated DNA ⁶⁵ Show member pathways Cytosolic DNA-sensing pathway ³⁶ DEx/H-box helicases activate type I IFN and inflammatory cytokines production ⁶⁵ IkBA variant leads to EDA-ID ⁶⁵ IKBKB deficiency causes SCID ⁶⁵ IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) ⁶⁵ IRF3 mediated activation of type 1 IFN ⁶⁵ IRF3-mediated induction of type I IFN ⁶⁵ LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production ⁶⁵ Regulation by TREX1 ⁶⁵ Regulation of innate immune responses to cytosolic DNA ⁶⁵ RIP-mediated NFkB activation via ZBP1 ⁶⁵ STAT6-mediated induction of chemokines ⁶⁵ STING mediated induction of host immune responses ⁶⁵ TAK1 activates NFkB by phosphorylation and activation of IKKs complex ⁶⁵ TRAF6 mediated NF-kB activation ⁶⁵ ZBP1(DAI) mediated induction of type I IFNs ⁶⁵	12.25	EP300 CREBBP
6	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways ⁶⁵ Show member pathways Negative regulators of RIG-I/MDA5 signaling ⁶⁵ NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 ⁶⁵ RIG-I-like Receptor Signaling ¹ RIG-I-like receptor signaling pathway ³⁶ TRAF3-dependent IRF activation pathway ⁶⁵ TRAF6 mediated IRF7 activation ⁶⁵	12.24	EP300 CREBBP
7	MicroRNAs in cancer ³⁶	12.23	EP300 CREBBP
8	Prolactin Signaling Pathway ¹ ³⁶ Show member pathways Development Prolactin receptor signaling ²³ Leptin signaling pathway ¹	12.19	EP300 CREBBP
9	CLEC7A (Dectin-1) signaling ⁶⁵ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁵ C-type lectin receptors (CLRs) ⁶⁵	12.15	EP300 CREBBP
10	Chromatin Regulation / Acetylation ⁴	12.14	EP300 CREBBP
11	JAK-STAT signaling pathway ³⁶ Show member pathways B-Cell Development ⁶³ IL-7 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴ Interleukin-19, 20, 22, 24 ⁶⁵ Jak/STAT Signaling Pathway ⁶⁴ Type III interferon signaling ¹	12.13	EP300 CREBBP
12	Cell cycle ³⁶ ¹	12.09	EP300 CREBBP
13	DNA Damage/Telomere Stress Induced Senescence ⁶⁵ Show member pathways Formation of Senescence-Associated Heterochromatin Foci (SAHF) ⁶⁵ Packaging Of Telomere Ends ⁶⁵ Signal transduction Activin A signaling regulation ²³	12.08	EP300 CREBBP
14	Human T-cell leukemia virus 1 infection ³⁶	12.07	EP300 CREBBP
15	cAMP signaling pathway ³⁶	12.06	EP300 CREBBP
16	Development Ligand-independent activation of ESR1 and ESR2 ²³ Show member pathways Transcription CREB pathway ²³ Transcription PPAR Pathway ²³	12.05	EP300 CREBBP
17	Viral carcinogenesis ³⁶	12.03	EP300 CREBBP
18	p53 Signaling ⁶³ Show member pathways P53 Pathway ⁶⁶	11.99	EP300 CREBBP
19	Tuberculosis ³⁶	11.97	EP300 CREBBP
20	BMAL1-CLOCK,NPAS2 activates circadian gene expression ⁶⁵ Show member pathways Circadian Clock ⁶⁵ NR1D1 (REV-ERBA) represses gene expression ⁶⁵ RORA activates gene expression ⁶⁵ YAP1- and WWTR1 (TAZ)-stimulated gene expression ⁶⁵	11.97	EP300 CREBBP
21	Wnt Signaling Pathway and Pluripotency ¹ Show member pathways Wnt Signaling Pathway ¹	11.97	EP300 CREBBP
22	C-type lectin receptor signaling pathway ³⁶ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁴	11.95	EP300 CREBBP
23	Cellular response to heat stress ⁶⁵ Show member pathways HSF1 activation ⁶⁵ Regulation of HSF1-mediated heat shock response ⁶⁵	11.94	EP300 CREBBP
24	Development NOTCH1-mediated pathway for NF-KB activity modulation ²³ Show member pathways Development Notch Signaling Pathway ²³ Transcription Sin3 and NuRD in transcription regulation ²³	11.94	EP300 CREBBP
25	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.91	EP300 CREBBP
26	Kit receptor signaling pathway ¹ Show member pathways IL-3 Signaling Pathway ¹ Signaling events mediated by Stem cell factor receptor (c-Kit) ¹	11.91	EP300 CREBBP
27	Wnt signaling pathway ³⁶	11.9	EP300 CREBBP
28	Factors involved in megakaryocyte development and platelet production ⁶⁵	11.89	EP300 CREBBP
29	FoxO signaling pathway ³⁶ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.83	EP300 CREBBP
30	TGF-beta Signaling Pathway (WikiPathways) ¹	11.82	EP300 CREBBP
31	Direct p53 effectors ¹	11.81	EP300 CREBBP
32	Pre-NOTCH Expression and Processing ⁶⁵ Show member pathways Defective LFNG causes SCDO3 ⁶⁵ Notch-HLH transcription pathway ⁶⁵ Post-transcriptional silencing by small RNAs ⁶⁵ Pre-NOTCH Processing in Golgi ⁶⁵ Pre-NOTCH Processing in the Endoplasmic Reticulum ⁶⁵ Pre-NOTCH Transcription and Translation ⁶⁵	11.79	EP300 CREBBP
33	Thyroid hormone signaling pathway ³⁶	11.77	EP300 CREBBP
34	Long-term potentiation ³⁶ Show member pathways Common Pathways Underlying Drug Addiction ¹	11.72	EP300 CREBBP
35	HIF-1 signaling pathway ³⁶	11.72	EP300 CREBBP
36	Glucagon signaling pathway ³⁶	11.71	EP300 CREBBP
37	TGF-beta signaling pathway (KEGG) ³⁶	11.65	EP300 CREBBP
38	Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors ⁶⁵ Show member pathways Activation of the TFAP2 (AP-2) family of transcription factors ⁶⁵ Negative regulation of activity of TFAP2 (AP-2) family transcription factors ⁶⁵ TFAP2 (AP-2) family regulates transcription of cell cycle factors ⁶⁵ TFAP2 (AP-2) family regulates transcription of growth factors and their receptors ⁶⁵ TFAP2 (AP-2) family regulates transcription of other transcription factors ⁶⁵ TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation ⁶⁵	11.64	EP300 CREBBP
39	Androgen receptor signaling pathway ¹	11.62	EP300 CREBBP
40	Angiogenesis (CST) ⁴	11.61	EP300 CREBBP
41	LT-BetaR Pathway ⁶³ Show member pathways Apoptosis and survival Lymphotoxin-beta receptor signaling ²³	11.58	EP300 CREBBP
42	Glucocorticoid receptor regulatory network ¹	11.57	EP300 CREBBP
43	Validated targets of C-MYC transcriptional activation ¹	11.56	EP300 CREBBP
44	C-MYB transcription factor network ¹	11.54	EP300 CREBBP
45	Regulation of nuclear SMAD2/3 signaling ¹	11.53	EP300 CREBBP
46	E2F transcription factor network ¹	11.5	EP300 CREBBP
47	Development_TGF-beta receptor signaling ²³	11.49	EP300 CREBBP
48	Adherens junction ³⁶	11.48	EP300 CREBBP
49	Transcription Ligand-dependent activation of the ESR1/SP pathway ²³ Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²³	11.47	EP300 CREBBP
50	Immune response IFN gamma signaling pathway ²³ Show member pathways IFN-gamma pathway ¹	11.47	EP300 CREBBP

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GO Terms for Menke-Hennekam Syndrome

Cellular components related to Menke-Hennekam Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor complex	GO:0005667	8.96	EP300 CREBBP
2	histone acetyltransferase complex	GO:0000123	8.62	EP300 CREBBP

Biological processes related to Menke-Hennekam Syndrome according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein phosphopantetheinylation	GO:0018215	9.57	EP300 CREBBP
2	response to hypoxia	GO:0001666	9.56	EP300 CREBBP
3	rhythmic process	GO:0048511	9.55	EP300 CREBBP
4	stimulatory C-type lectin receptor signaling pathway	GO:0002223	9.54	EP300 CREBBP
5	Notch signaling pathway	GO:0007219	9.52	EP300 CREBBP
6	regulation of cellular response to heat	GO:1900034	9.51	EP300 CREBBP
7	regulation of transcription from RNA polymerase II promoter in response to hypoxia	GO:0061418	9.49	EP300 CREBBP
8	cellular response to UV	GO:0034644	9.48	EP300 CREBBP
9	positive regulation of type I interferon production	GO:0032481	9.46	EP300 CREBBP
10	positive regulation of Notch signaling pathway	GO:0045747	9.43	EP300 CREBBP
11	histone acetylation	GO:0016573	9.4	EP300 CREBBP
12	protein destabilization	GO:0031648	9.37	EP300 CREBBP
13	positive regulation of transforming growth factor beta receptor signaling pathway	GO:0030511	9.32	EP300 CREBBP
14	beta-catenin-TCF complex assembly	GO:1904837	9.26	EP300 CREBBP
15	positive regulation of transcription of Notch receptor target	GO:0007221	9.16	EP300 CREBBP
16	protein acetylation	GO:0006473	8.96	EP300 CREBBP
17	N-terminal peptidyl-lysine acetylation	GO:0018076	8.62	EP300 CREBBP

Molecular functions related to Menke-Hennekam Syndrome according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor binding	GO:0008134	9.51	EP300 CREBBP
2	transcription coactivator activity	GO:0003713	9.49	EP300 CREBBP
3	transferase activity, transferring acyl groups	GO:0016746	9.48	EP300 CREBBP
4	transcription coregulator activity	GO:0003712	9.46	EP300 CREBBP
5	p53 binding	GO:0002039	9.43	EP300 CREBBP
6	chromatin DNA binding	GO:0031490	9.4	EP300 CREBBP
7	damaged DNA binding	GO:0003684	9.37	EP300 CREBBP
8	RNA polymerase II transcription factor binding	GO:0001085	9.32	EP300 CREBBP
9	RNA polymerase II activating transcription factor binding	GO:0001102	9.26	EP300 CREBBP
10	histone acetyltransferase activity	GO:0004402	9.16	EP300 CREBBP
11	acetyltransferase activity	GO:0016407	8.96	EP300 CREBBP
12	peptide-lysine-N-acetyltransferase activity	GO:0061733	8.62	EP300 CREBBP

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