MCID: MNK007
MIFTS: 20

Menke-Hennekam Syndrome

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

Aliases & Classifications for Menke-Hennekam Syndrome

MalaCards integrated aliases for Menke-Hennekam Syndrome:

Name: Menke-Hennekam Syndrome 58
Syndrome, Menke-Hennekam 39

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA592574

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...

Related Diseases for Menke-Hennekam Syndrome

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



Diseases related to Menke-Hennekam Syndrome

Symptoms & Phenotypes for Menke-Hennekam Syndrome

Drugs & Therapeutics for Menke-Hennekam Syndrome

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

Genetic Tests for Menke-Hennekam Syndrome

Anatomical Context for Menke-Hennekam Syndrome

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
30892814 2019

Variations for Menke-Hennekam Syndrome

Expression for Menke-Hennekam Syndrome

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

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
Show member pathways
12.35 EP300 CREBBP
2
Show member pathways
12.34 EP300 CREBBP
3
Show member pathways
12.3 EP300 CREBBP
4
Show member pathways
12.25 EP300 CREBBP
5
Show member pathways
12.25 EP300 CREBBP
6
Show member pathways
12.24 EP300 CREBBP
7 12.23 EP300 CREBBP
8
Show member pathways
12.19 EP300 CREBBP
9
Show member pathways
12.15 EP300 CREBBP
10 12.14 EP300 CREBBP
11
Show member pathways
12.13 EP300 CREBBP
12 12.09 EP300 CREBBP
13
Show member pathways
12.08 EP300 CREBBP
14 12.07 EP300 CREBBP
15 12.06 EP300 CREBBP
16
Show member pathways
12.05 EP300 CREBBP
17 12.03 EP300 CREBBP
18
Show member pathways
11.99 EP300 CREBBP
19 11.97 EP300 CREBBP
20
Show member pathways
11.97 EP300 CREBBP
21
Show member pathways
11.97 EP300 CREBBP
22
Show member pathways
11.95 EP300 CREBBP
23
Show member pathways
11.94 EP300 CREBBP
24
Show member pathways
11.94 EP300 CREBBP
25 11.91 EP300 CREBBP
26
Show member pathways
11.91 EP300 CREBBP
27 11.9 EP300 CREBBP
28 11.89 EP300 CREBBP
29
Show member pathways
11.83 EP300 CREBBP
30 11.82 EP300 CREBBP
31 11.81 EP300 CREBBP
32
Show member pathways
11.79 EP300 CREBBP
33 11.77 EP300 CREBBP
34
Show member pathways
11.72 EP300 CREBBP
35 11.72 EP300 CREBBP
36 11.71 EP300 CREBBP
37 11.65 EP300 CREBBP
38
Show member pathways
11.64 EP300 CREBBP
39 11.62 EP300 CREBBP
40 11.61 EP300 CREBBP
41
Show member pathways
11.58 EP300 CREBBP
42 11.57 EP300 CREBBP
43 11.56 EP300 CREBBP
44 11.54 EP300 CREBBP
45 11.53 EP300 CREBBP
46 11.5 EP300 CREBBP
47 11.49 EP300 CREBBP
48 11.48 EP300 CREBBP
49
Show member pathways
11.47 EP300 CREBBP
50
Show member pathways
11.47 EP300 CREBBP

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

Sources for Menke-Hennekam Syndrome

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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