EDSMC2
MCID: EHL086
MIFTS: 25

Ehlers-Danlos Syndrome, Musculocontractural Type, 2 (EDSMC2)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Musculocontractural Type, 2:

Name: Ehlers-Danlos Syndrome, Musculocontractural Type, 2 56
Ehlers-Danlos Syndrome, Musculocontractural Type 2 56 73 29 6 39 71
Edsmc2 56 73

Characteristics:

OMIM:

56
Miscellaneous:
phenotypic variability

Inheritance:
autosomal recessive


HPO:

31
ehlers-danlos syndrome, musculocontractural type, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

OMIM : 56 The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013). For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (601776). (615539)

MalaCards based summary : Ehlers-Danlos Syndrome, Musculocontractural Type, 2, is also known as ehlers-danlos syndrome, musculocontractural type 2, and has symptoms including generalized muscle weakness An important gene associated with Ehlers-Danlos Syndrome, Musculocontractural Type, 2 is DSE (Dermatan Sulfate Epimerase). Affiliated tissues include skin, and related phenotypes are hypertelorism and frontal bossing

UniProtKB/Swiss-Prot : 73 Ehlers-Danlos syndrome, musculocontractural type 2: A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood.

Related Diseases for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

Diseases in the Musculocontractural Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Musculocontractural Type, 1 Ehlers-Danlos Syndrome, Musculocontractural Type, 2

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

Human phenotypes related to Ehlers-Danlos Syndrome, Musculocontractural Type, 2:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 frontal bossing 31 HP:0002007
3 high palate 31 HP:0000218
4 inguinal hernia 31 HP:0000023
5 short nose 31 HP:0003196
6 downslanted palpebral fissures 31 HP:0000494
7 delayed gross motor development 31 HP:0002194
8 midface retrusion 31 HP:0011800
9 arthralgia 31 HP:0002829
10 brachycephaly 31 HP:0000248
11 generalized muscle weakness 31 HP:0003324
12 long philtrum 31 HP:0000343
13 protruding ear 31 HP:0000411
14 narrow mouth 31 HP:0000160
15 myalgia 31 HP:0003326
16 mitral valve prolapse 31 HP:0001634
17 talipes equinovarus 31 HP:0001762
18 telecanthus 31 HP:0000506
19 patent foramen ovale 31 HP:0001655
20 mitral regurgitation 31 HP:0001653
21 arachnodactyly 31 HP:0001166
22 dental crowding 31 HP:0000678
23 adducted thumb 31 HP:0001181
24 blue sclerae 31 HP:0000592
25 camptodactyly 31 HP:0012385
26 cerebral atrophy 31 HP:0002059
27 facial hypotonia 31 HP:0000297

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
telecanthus
blue sclerae
downslanting palpebral fissures

Genitourinary External Genitalia Male:
inguinal hernia

Neurologic Central Nervous System:
delayed gross motor development
cerebral atrophy, generalized mild

Skeletal Skull:
brachycephaly
open anterior fontanel

Cardiovascular Heart:
mitral valve prolapse
patent foramen ovale
mitral valve regurgitation
mixomatous degeneration of mitral valve

Head And Neck Teeth:
dental crowding

Head And Neck Mouth:
high-arched palate
small mouth
tent-shaped lips

Skin Nails Hair Skin:
delayed wound healing
atrophic scarring
ecchymoses after minor trauma
post-ecchymotic calcifications
post-ecchymotic pigmentation

Abdomen External Features:
eventration of abdominal wall after surgery

Genitourinary Bladder:
bladder prolapse after multiple deliveries

Head And Neck Face:
frontal bossing
long philtrum
midface hypoplasia
hypotonic facies

Head And Neck Nose:
short nose

Head And Neck Head:
brachycephaly
open anterior fontanel

Muscle Soft Tissue:
generalized muscle weakness
muscle pain

Skeletal Hands:
arachnodactyly
camptodactyly
adducted thumbs (in some patients)

Skeletal Limbs:
joint pain
joint hyperlaxity (in some patients)

Head And Neck Ears:
prominent ears
soft auricles
abnormally shaped ears

Skeletal Feet:
talipes equinovarus, bilateral

Genitourinary Internal Genitalia Female:
uterine prolapse after multiple deliveries

Clinical features from OMIM:

615539

UMLS symptoms related to Ehlers-Danlos Syndrome, Musculocontractural Type, 2:


generalized muscle weakness

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

Genetic Tests for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

Genetic tests related to Ehlers-Danlos Syndrome, Musculocontractural Type, 2:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Musculocontractural Type 2 29 DSE

Anatomical Context for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Musculocontractural Type, 2:

40
Skin

Publications for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

Articles related to Ehlers-Danlos Syndrome, Musculocontractural Type, 2:

# Title Authors PMID Year
1
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis. 56 6
25703627 2015
2
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. 56 6
23704329 2013

Variations for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Musculocontractural Type, 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSE NM_013352.4(DSE):c.803C>T (p.Ser268Leu)SNV Pathogenic 88848 rs398122361 6:116752249-116752249 6:116431086-116431086
2 DSE NM_013352.4(DSE):c.799A>G (p.Arg267Gly)SNV Pathogenic 446171 rs1554227382 6:116752245-116752245 6:116431082-116431082
3 DSE NM_013352.4(DSE):c.1897G>A (p.Val633Met)SNV Conflicting interpretations of pathogenicity 450138 rs550208733 6:116757528-116757528 6:116436365-116436365
4 DSE NM_013352.4(DSE):c.2005A>G (p.Ile669Val)SNV Uncertain significance 541546 rs145999978 6:116757636-116757636 6:116436473-116436473
5 DSE NM_013352.4(DSE):c.1568G>A (p.Gly523Glu)SNV Uncertain significance 592132 rs1562313702 6:116757199-116757199 6:116436036-116436036
6 DSE NM_013352.4(DSE):c.355A>C (p.Asn119His)SNV Uncertain significance 642867 6:116720768-116720768 6:116399605-116399605
7 DSE NM_013352.4(DSE):c.1225G>A (p.Glu409Lys)SNV Uncertain significance 653778 6:116756856-116756856 6:116435693-116435693
8 DSE NM_013352.4(DSE):c.2619_2621del (p.Gly874del)deletion Benign 474683 rs111252008 6:116758250-116758252 6:116437087-116437089
9 DSE NM_013352.4(DSE):c.1926= (p.Asn642=)SNV Benign 474682 rs560644 6:116757557-116757557 6:116436394-116436394

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Musculocontractural Type, 2:

73
# Symbol AA change Variation ID SNP ID
1 DSE p.Ser268Leu VAR_070911 rs398122361

Expression for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Musculocontractural Type, 2.

Pathways for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

GO Terms for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

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