MEND
MCID: MND023
MIFTS: 42

Mend Syndrome (MEND)

Categories: Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mend Syndrome

MalaCards integrated aliases for Mend Syndrome:

Name: Mend Syndrome 57 59 74 37 29 6
Male Ebp Disorder with Neurological Defects 59 74
Mend 57 74
Male Ebp Disorder with Neurologic Defects 57

Characteristics:

Orphanet epidemiological data:

59
mend syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Miscellaneous:
highly variable phenotype
phenotype is due to hypomorphic nonmosaic mutation in the ebp gene

Inheritance:
x-linked recessive


HPO:

32
mend syndrome:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300960
KEGG 37 H02248
MeSH 44 D043202
ICD10 via Orphanet 34 Q87.8
Orphanet 59 ORPHA401973

Summaries for Mend Syndrome

OMIM : 57 Male EBP disorder with neurologic defects is an X-linked recessive disorder representing a continuous phenotypic spectrum with variable manifestations associated with a defect in sterol biosynthesis. Features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. Not all patients show all features, and the severity is highly variable. Molecular studies indicate that affected males are hemizygous for a nonmosaic hypomorphic EBP allele. Carrier females are generally clinically asymptomatic, but may show biochemical abnormalities (summary by Arnold et al., 2012 and Barboza-Cerda et al., 2014). (300960)

MalaCards based summary : Mend Syndrome, also known as male ebp disorder with neurological defects, is related to erythrokeratodermia variabilis et progressiva 1 and leukodystrophy, hypomyelinating, 15. An important gene associated with Mend Syndrome is EBP (EBP Cholestenol Delta-Isomerase), and among its related pathways/superpathways is Steroid biosynthesis. The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and brain, and related phenotypes are low-set ears and high palate

KEGG : 37
MEND syndrome (male EBP disorder with neurological defects) is an X-linked recessive condition in males with a phenotype remarkable for Dandy-Walker like congenital brain malformation, cataracts, collodion skin and cryptorchidism. Additional findings of hydrocephalus, dysplasia of the corpus callosum, cardiovascular, craniofacial and skeletal anomalies were regularly seen in patients. MEND syndrome is caused by EBP mutations. EBP is an integral membrane protein located mainly in the endoplasmic reticulum, which has dual functions as an enzyme converting cholestenol into lathosterol and as a high-affinity receptor for anti-ischaemic drugs.

UniProtKB/Swiss-Prot : 74 MEND syndrome: An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.

Related Diseases for Mend Syndrome

Diseases related to Mend Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 erythrokeratodermia variabilis et progressiva 1 12.3
2 leukodystrophy, hypomyelinating, 15 11.2
3 waardenburg's syndrome 11.2
4 heart disease 10.2
5 disease of mental health 10.2
6 erythrokeratoderma 10.2
7 xeroderma pigmentosum, variant type 10.2
8 epidermolysis bullosa 10.2
9 cardiogenic shock 10.2
10 hair whorl 10.1
11 osteoporosis 10.1
12 pulmonary disease, chronic obstructive 10.1
13 pitt-hopkins syndrome 10.1
14 bone mineral density quantitative trait locus 8 10.1
15 bone mineral density quantitative trait locus 15 10.1
16 epidermolysis bullosa dystrophica 10.1
17 subacute delirium 10.1
18 alzheimer disease 9.9
19 atrial standstill 1 9.9
20 gastroesophageal reflux 9.9
21 hepatocellular carcinoma 9.9
22 pheochromocytoma 9.9
23 polykaryocytosis inducer 9.9
24 pulmonary hypertension, primary, 1 9.9
25 tracheoesophageal fistula with or without esophageal atresia 9.9
26 down syndrome 9.9
27 alkaptonuria 9.9
28 ocular motor apraxia 9.9
29 pulmonary alveolar microlithiasis 9.9
30 xeroderma pigmentosum, complementation group c 9.9
31 body mass index quantitative trait locus 11 9.9
32 muscular dystrophy, duchenne type 9.9
33 stroke, ischemic 9.9
34 yemenite deaf-blind hypopigmentation syndrome 9.9
35 body mass index quantitative trait locus 9 9.9
36 body mass index quantitative trait locus 8 9.9
37 coronary heart disease 1 9.9
38 body mass index quantitative trait locus 4 9.9
39 body mass index quantitative trait locus 10 9.9
40 body mass index quantitative trait locus 7 9.9
41 human immunodeficiency virus type 1 9.9
42 body mass index quantitative trait locus 12 9.9
43 body mass index quantitative trait locus 14 9.9
44 body mass index quantitative trait locus 18 9.9
45 erythrokeratodermia variabilis et progressiva 2 9.9
46 erythrokeratodermia variabilis et progressiva 5 9.9
47 body mass index quantitative trait locus 19 9.9
48 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 9.9
49 body mass index quantitative trait locus 20 9.9
50 inflammatory bowel disease 9.9

Graphical network of the top 20 diseases related to Mend Syndrome:



Diseases related to Mend Syndrome

Symptoms & Phenotypes for Mend Syndrome

Human phenotypes related to Mend Syndrome:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 Frequent (79-30%) HP:0000369
2 high palate 59 32 Frequent (79-30%) HP:0000218
3 hydrocephalus 59 32 Frequent (79-30%) HP:0000238
4 intellectual disability 59 32 Frequent (79-30%) HP:0001249
5 seizures 59 32 Frequent (79-30%) HP:0001250
6 cataract 59 32 Frequent (79-30%) HP:0000518
7 global developmental delay 59 32 Frequent (79-30%) HP:0001263
8 short stature 59 32 Frequent (79-30%) HP:0004322
9 ichthyosis 59 32 Frequent (79-30%) HP:0008064
10 hyperactivity 59 32 Occasional (29-5%) HP:0000752
11 generalized hypotonia 59 32 Frequent (79-30%) HP:0001290
12 cryptorchidism 59 32 Frequent (79-30%) HP:0000028
13 prominent nasal bridge 59 32 Frequent (79-30%) HP:0000426
14 dandy-walker malformation 59 32 Frequent (79-30%) HP:0001305
15 midface retrusion 59 32 Frequent (79-30%) HP:0011800
16 aortic valve stenosis 59 32 Frequent (79-30%) HP:0001650
17 long fingers 59 32 Frequent (79-30%) HP:0100807
18 overlapping fingers 59 32 Frequent (79-30%) HP:0010557
19 2-3 toe syndactyly 59 32 Frequent (79-30%) HP:0004691
20 overlapping toe 59 32 Frequent (79-30%) HP:0001845
21 hypertelorism 59 Frequent (79-30%)
22 failure to thrive 59 Frequent (79-30%)
23 kyphosis 59 Frequent (79-30%)
24 hypertonia 32 HP:0001276
25 cleft palate 59 Occasional (29-5%)
26 micrognathia 59 Frequent (79-30%)
27 sacral dimple 59 Frequent (79-30%)
28 thickened nuchal skin fold 59 Frequent (79-30%)
29 telecanthus 59 Frequent (79-30%)
30 microphthalmia 59 Frequent (79-30%)
31 aggressive behavior 59 Occasional (29-5%)
32 upslanted palpebral fissure 59 Frequent (79-30%)
33 hand polydactyly 59 Frequent (79-30%)
34 abnormal social behavior 59 Frequent (79-30%)
35 wide anterior fontanel 59 Frequent (79-30%)
36 microretrognathia 32 HP:0000308
37 hypoplasia of the corpus callosum 59 Frequent (79-30%)
38 abnormal heart morphology 59 Occasional (29-5%)
39 polydactyly 32 HP:0010442
40 long neck 59 Frequent (79-30%)
41 broad hallux 59 Frequent (79-30%)
42 limb hypertonia 59 Frequent (79-30%)
43 abnormal auditory evoked potentials 59 Frequent (79-30%)
44 elevated 8-dehydrocholesterol 59 Very frequent (99-80%)
45 elevated 8(9)-cholestenol 59 Very frequent (99-80%)
46 abnormality of the nasal bridge 59 Frequent (79-30%)
47 spotty hypopigmentation 59 Frequent (79-30%)
48 asymmetry of the mouth 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggressive outbursts
behavioral difficulties

Head And Neck Face:
microretrognathia
midface hypoplasia

Skeletal Feet:
2-3 toe syndactyly
overlapping toes

Head And Neck Mouth:
high-arched palate

Head And Neck Nose:
high nasal bridge
short nasal root

Skeletal Spine:
scoliosis kyphosis

Neurologic Central Nervous System:
hydrocephalus
seizures
dandy-walker malformation
hypoplasia or agenesis of the corpus callosum
hypertonia of the extremities
more
Skin Nails Hair Skin:
ichthyosis
collodion skin changes
pigmentary abnormalities

Genitourinary External Genitalia Male:
cryptorchidism

Skeletal Hands:
long fingers
overlapping fingers
polydactyly
digital anomalies

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
cataracts

Cardiovascular Heart:
aortic stenosis
cardiac malformations

Laboratory Abnormalities:
increased plasma 8-dihydrocholesterol and 8(9)-cholestenol

Clinical features from OMIM:

300960

Drugs & Therapeutics for Mend Syndrome

Drugs for Mend Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
3
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
4 Sildenafil Citrate Phase 4 171599-83-0
5 Citrate Phase 4
6 Phosphodiesterase Inhibitors Phase 4
7 Phosphodiesterase 5 Inhibitors Phase 4
8 Vasodilator Agents Phase 4
9 Antioxidants Phase 4
10 Protective Agents Phase 4
11 Central Nervous System Depressants Phase 4
12
Olaparib Approved Phase 3 763113-22-0 23725625
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
14
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 3 54-47-7 1051
15
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
16 Trace Elements Phase 3
17 Micronutrients Phase 3
18 Vitamins Phase 3
19 Folate Phase 3
20 Vitamin B 6 Phase 3
21 Vitamin B9 Phase 3
22 Nutrients Phase 3
23 Vitamin B Complex Phase 3
24 Poly(ADP-ribose) Polymerase Inhibitors Phase 3
25
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
26
Darbepoetin alfa Approved, Investigational Phase 2 11096-26-7, 209810-58-2
27 Hematinics Phase 2
28
tannic acid Approved 1401-55-4
29
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
30 Complement System Proteins

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Oxepa in Multiple Trauma: Prospective, Randomized, Comparative, Double-blind, Controlled Clinical Study Unknown status NCT01099501 Phase 4
2 The Use and Efficacy of Sildenafil in Diabetic Men With Erectile Dysfunction: the Impact on Endothelial Function, a Pilot Feasibility Study Completed NCT00199563 Phase 4 Viagra
3 Melatonin, Nightshift Work and DNA Damage (MEND) Study Not yet recruiting NCT03945955 Phase 4
4 MEND-CABG II: A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Cardioprotective Effects of MC-1 in Patients Undergoing High-Risk CABG Surgery Completed NCT00402506 Phase 3 (MC-1) Pyridoxal 5'-phosphate
5 Phase III Randomised, Double Blind, Placebo Controlled Study of Olaparib Maintenance Monotherapy in Platinum Sensitive Relapsed BRCA Mutated Ovarian Cancer Patients With a Complete or Partial Response Following Platinum Based Chemotherapy Active, not recruiting NCT01874353 Phase 3 Olaparib 300mg tablets;Placebo to match olaparib 300mg
6 Mild Encephalopathy in the Newborn Treated With Darbepoetin (MEND) Recruiting NCT03071861 Phase 2 Darbepoetin Alfa;Normal Saline
7 MEND Childhood Obesity Treatment Programme: An RCT to Improve Body Composition and Cardiovascular Health in Overweight and Obese Children. Unknown status NCT00974116
8 Systems Approach to Obesity Prevention in Underserved Children in Texas (Randomized Controlled Trial) Completed NCT02724943
9 Childhood Obesity Research Demonstration Project 2.0 (CORD 2.0) Completed NCT03012126
10 Salud y Vida 2.0: Enhancing Integrated Behavioral Health for Individuals With Diabetes in the Rio Grande Valley Completed NCT04035395
11 MEND 2: Making Treatment Decisions Using Genomic Testing Completed NCT03183050
12 Efficacy of Early Short-term Training on Thrombogenesis in Patients Following Coronary Bypass Surgery Completed NCT02144480

Search NIH Clinical Center for Mend Syndrome

Genetic Tests for Mend Syndrome

Genetic tests related to Mend Syndrome:

# Genetic test Affiliating Genes
1 Mend Syndrome 29 EBP

Anatomical Context for Mend Syndrome

MalaCards organs/tissues related to Mend Syndrome:

41
Heart, Skin, Brain, Endothelial, Liver, Bone, Testes

Publications for Mend Syndrome

Articles related to Mend Syndrome:

(show top 50) (show all 498)
# Title Authors PMID Year
1
An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. 38 8 71
24459067 2014
2
A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2. 8 71
24700572 2014
3
A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21. 8 71
23307567 2013
4
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. 8 71
20949533 2010
5
Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome. 8 71
12966533 2003
6
Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. 8 71
12503101 2003
7
Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects). 38 8
22229330 2012
8
Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome. 8
15368506 2004
9
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. 71
11038443 2000
10
Innovative nanotechnologies for enhancing nucleic acids/gene therapy: Controlling intracellular trafficking to targeted biodistribution. 38
31306827 2019
11
Expressional regulation of gonadotropin receptor genes and androgen receptor genes in the eel testis. 38
31009604 2019
12
Dose-dependent neuroprotective effect of oriental phyto-derived glycyrrhizin on experimental neuroterminal norepinephrine depletion in a rat brain model. 38
31150628 2019
13
A Cellular Insulator against CLE45 Peptide Signaling. 38
31327718 2019
14
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes. 38
31397093 2019
15
The silencing of indoleamine 2,3-dioxygenase 1 (IDO1) in dendritic cells by siRNA-loaded lipid nanoparticles enhances cell-based cancer immunotherapy. 38
31383907 2019
16
Targeting AngII/AT1R signaling pathway by Perindopril inhibits ongoing liver fibrosis in rat. 38
31348596 2019
17
'Homemade': Building, mending, and coordinating a care network. 38
31394398 2019
18
Extracellular regulation of airway smooth muscle contraction. 38
31042549 2019
19
Alteration of the Route to Menaquinone towards Isochorismate-Derived Metabolites. 38
30866142 2019
20
Collaborative Molecular Epidemiology Study of Metabolic Dysregulation, DNA Methylation, and Breast Cancer Risk Among Nigerian Women: MEND Study Objectives and Design. 38
31194608 2019
21
Shieldin - the protector of DNA ends. 38
30948458 2019
22
A broken heart can mend. 38
30886430 2019
23
DNA Damage Stress: Cui Prodest? 38
30832234 2019
24
Longitudinal Model Predicting Self-Concept in Pediatric Chronic Illness. 38
29663349 2019
25
Magnetic Endoglin Aptamer Nanoprobe for Targeted Diagnosis of Solid Tumor. 38
30596557 2019
26
Behavior Modification of Diet and Parent Feeding Practices in a Community- Vs Primary Care-Centered Intervention for Childhood Obesity. 38
30139562 2019
27
Addressing childhood obesity in low-income, ethnically diverse families: outcomes and peer effects of MEND 7-13 when delivered at scale in US communities. 38
30076372 2019
28
Mitigation of Salinity Stress in Plants by Arbuscular Mycorrhizal Symbiosis: Current Understanding and New Challenges. 38
31031793 2019
29
Two active site arginines are critical determinants of substrate binding and catalysis in MenD: a thiamine-dependent enzyme in menaquinone biosynthesis. 38
30341164 2018
30
Extended substrate range of thiamine diphosphate-dependent MenD enzyme by coupling of two C-C-bonding reactions. 38
30062480 2018
31
Leveraging Titanium to Enable Silicon Anodes in Lithium-Ion Batteries. 38
30350548 2018
32
[An Experience Providing Hospice Care to a Terminal Cancer Patient]. 38
30276778 2018
33
Disruption of VEGF Mediated Flk-1 Signaling Leads to a Gradual Loss of Vessel Health and Cardiac Function During Myocardial Infarction: Potential Therapy With Pellino-1. 38
30371196 2018
34
Stability of dietary polyphenols: It's never too late to mend? 38
29626578 2018
35
Data for atmospheric arsenic deposition: A case study- northeast of Iran. 38
29900366 2018
36
White-matter repair: Interaction between oligodendrocytes and the neurovascular unit. 38
30450418 2018
37
Endoglin based in vivo near-infrared fluorescence imaging of tumor models in mice using activatable liposomes. 38
29545133 2018
38
The many ways to mend your liver: A critical appraisal. 38
29882223 2018
39
Reducing the Cytotoxicity of Lipid Nanoparticles Associated with a Fusogenic Cationic Lipid in a Natural Killer Cell Line by Introducing a Polycation-Based siRNA Core. 38
29668291 2018
40
'Reprogrammed' stem cells approved to mend human hearts for the first time. 38
29844563 2018
41
Single-Turnover Kinetics Reveal a Distinct Mode of Thiamine Diphosphate-Dependent Catalysis in Vitamin K Biosynthesis. 38
29726079 2018
42
Dual antiplatelet therapy for perioperative myocardial infarction following CABG surgery. 38
29754654 2018
43
Abusive culture in medical education: Mentors must mend their ways. 38
30104818 2018
44
How to Mend a Broken Heart? 38
28624397 2018
45
Bicarbonate induces high-level resistance to the human antimicrobial peptide LL-37 in Staphylococcus aureus small colony variants. 38
29211886 2018
46
Lipid nanoparticle-based co-delivery of epirubicin and BCL-2 siRNA for enhanced intracellular drug release and reversing multidrug resistance. 38
28393563 2018
47
Medical Devices; Exemption From Premarket Notification; Class II Devices; Over-the-Counter Denture Repair Kit. Final order. 38
29969206 2018
48
Prospective Pilot Study of the Mastering Each New Direction Psychosocial Family Systems Program for Pediatric Chronic Illness. 38
28299791 2018
49
Mixed metaphors: Electrophysiological brain responses to (un)expected concrete and abstract prepositional phrases. 38
29248603 2018
50
Mathematical model of the MenD-catalyzed 1,4-addition (Stetter reaction) of α-ketoglutaric acid to acrylonitrile. 38
29405997 2018

Variations for Mend Syndrome

ClinVar genetic disease variations for Mend Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EBP NM_006579.3(EBP): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic rs104894795 X:48382212-48382212 X:48523824-48523824
2 EBP NM_006579.3(EBP): c.141G> T (p.Trp47Cys) single nucleotide variant Pathogenic rs587783599 X:48382300-48382300 X:48523912-48523912
3 EBP NM_006579.3(EBP): c.224T> A (p.Ile75Asn) single nucleotide variant Pathogenic rs797045153 X:48382383-48382383 X:48523995-48523995
4 EBP NM_006579.3(EBP): c.139T> C (p.Trp47Arg) single nucleotide variant Pathogenic rs878854359 X:48382298-48382298 X:48523910-48523910

UniProtKB/Swiss-Prot genetic disease variations for Mend Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 EBP p.Leu18Pro VAR_074633 rs104894795
2 EBP p.Trp47Cys VAR_074634 rs587783599
3 EBP p.Trp47Arg VAR_074635 rs878854359
4 EBP p.Ile75Asn VAR_074636 rs797045153

Expression for Mend Syndrome

Search GEO for disease gene expression data for Mend Syndrome.

Pathways for Mend Syndrome

Pathways related to Mend Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

GO Terms for Mend Syndrome

Sources for Mend Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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