MCID: MND023
MIFTS: 25

Mend Syndrome

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

Aliases & Classifications for Mend Syndrome

MalaCards integrated aliases for Mend Syndrome:

Name: Mend Syndrome 57 59 75 29 6
Male Ebp Disorder with Neurological Defects 59 75
Mend 57 75
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:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:



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 waardenburg's syndrome. An important gene associated with Mend Syndrome is EBP (EBP, Cholestenol Delta-Isomerase). Affiliated tissues include skin, and related phenotypes are cryptorchidism and high palate

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 erythrokeratodermia variabilis et progressiva 1 12.0
2 waardenburg's syndrome 10.9

Symptoms & Phenotypes for Mend Syndrome

Symptoms via clinical synopsis from OMIM:

57
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:
overlapping fingers
long 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

Human phenotypes related to Mend Syndrome:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 high palate 32 HP:0000218
3 hydrocephalus 32 HP:0000238
4 microretrognathia 32 HP:0000308
5 low-set ears 32 HP:0000369
6 prominent nasal bridge 32 HP:0000426
7 cataract 32 HP:0000518
8 hyperactivity 32 HP:0000752
9 intellectual disability 32 HP:0001249
10 seizures 32 HP:0001250
11 global developmental delay 32 HP:0001263
12 generalized hypotonia 32 HP:0001290
13 dandy-walker malformation 32 HP:0001305
14 aortic valve stenosis 32 HP:0001650
15 overlapping toe 32 HP:0001845
16 short stature 32 HP:0004322
17 2-3 toe syndactyly 32 HP:0004691
18 ichthyosis 32 HP:0008064
19 polydactyly 32 HP:0010442
20 overlapping fingers 32 HP:0010557
21 midface retrusion 32 HP:0011800
22 long fingers 32 HP:0100807

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 29 EBP

Anatomical Context for Mend Syndrome

MalaCards organs/tissues related to Mend Syndrome:

41
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:

75
# 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.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic rs104894795 GRCh37 Chromosome X, 48382212: 48382212
2 EBP NM_006579.2(EBP): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic rs104894795 GRCh38 Chromosome X, 48523824: 48523824
3 EBP NM_006579.2(EBP): c.141G> T (p.Trp47Cys) single nucleotide variant Pathogenic rs587783599 GRCh37 Chromosome X, 48382300: 48382300
4 EBP NM_006579.2(EBP): c.141G> T (p.Trp47Cys) single nucleotide variant Pathogenic rs587783599 GRCh38 Chromosome X, 48523912: 48523912
5 EBP NM_006579.2(EBP): c.224T> A (p.Ile75Asn) single nucleotide variant Pathogenic rs797045153 GRCh37 Chromosome X, 48382383: 48382383
6 EBP NM_006579.2(EBP): c.224T> A (p.Ile75Asn) single nucleotide variant Pathogenic rs797045153 GRCh38 Chromosome X, 48523995: 48523995
7 EBP NM_006579.2(EBP): c.139T> C (p.Trp47Arg) single nucleotide variant Pathogenic rs878854359 GRCh38 Chromosome X, 48523910: 48523910
8 EBP NM_006579.2(EBP): c.139T> C (p.Trp47Arg) single nucleotide variant Pathogenic rs878854359 GRCh37 Chromosome X, 48382298: 48382298

Expression for Mend Syndrome

Search GEO for disease gene expression data for Mend Syndrome.

Pathways for Mend Syndrome

GO Terms for Mend Syndrome

Sources for Mend Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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