MEND
MCID: MND023
MIFTS: 28

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 58 60 76 38 30 6
Male Ebp Disorder with Neurological Defects 60 76
Mend 58 76
Male Ebp Disorder with Neurologic Defects 58

Characteristics:

Orphanet epidemiological data:

60
mend syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Miscellaneous:
highly variable phenotype
phenotype is due to hypomorphic nonmosaic mutation in the ebp gene

Inheritance:
x-linked recessive


HPO:

33
mend syndrome:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mend Syndrome

OMIM : 58 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. Affiliated tissues include skin, and related phenotypes are low-set ears and high palate

UniProtKB/Swiss-Prot : 76 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

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:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 high palate 33 HP:0000218
3 hydrocephalus 33 HP:0000238
4 intellectual disability 33 HP:0001249
5 seizures 33 HP:0001250
6 cataract 33 HP:0000518
7 global developmental delay 33 HP:0001263
8 short stature 33 HP:0004322
9 ichthyosis 33 HP:0008064
10 hypertonia 33 HP:0001276
11 cryptorchidism 33 HP:0000028
12 prominent nasal bridge 33 HP:0000426
13 midface retrusion 33 HP:0011800
14 microretrognathia 33 HP:0000308
15 dandy-walker malformation 33 HP:0001305
16 generalized hypotonia 33 HP:0001290
17 hyperactivity 33 HP:0000752
18 aortic valve stenosis 33 HP:0001650
19 long fingers 33 HP:0100807
20 overlapping fingers 33 HP:0010557
21 2-3 toe syndactyly 33 HP:0004691
22 overlapping toe 33 HP:0001845
23 polydactyly 33 HP:0010442

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggressive outbursts
behavioral difficulties

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

Head And Neck Face:
microretrognathia
midface hypoplasia

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

Search Clinical Trials , NIH Clinical Center for Mend Syndrome

Genetic Tests for Mend Syndrome

Genetic tests related to Mend Syndrome:

# Genetic test Affiliating Genes
1 Mend Syndrome 30 EBP

Anatomical Context for Mend Syndrome

MalaCards organs/tissues related to Mend Syndrome:

42
Skin

Publications for Mend Syndrome

Articles related to Mend Syndrome:

# Title Authors Year
1
MEND Syndrome: a Case Report with Scanning Electron Microscopy Findings of the Collodion Membrane. ( 27276700 )
2016
2
Conradi-HA1nermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects). ( 22229330 )
2012

Variations for Mend Syndrome

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

76
# 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

ClinVar genetic disease variations for Mend Syndrome:

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

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:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....