EDSMC2
MCID: EHL086
MIFTS: 23

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 57
Ehlers-Danlos Syndrome, Musculocontractural Type 2 57 75 29 6 40 73
Edsmc2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
phenotypic variability


HPO:

32
ehlers-danlos syndrome, musculocontractural type, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

OMIM : 57 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 bone, and related phenotypes are hypertelorism and frontal bossing

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
telecanthus
blue sclerae
downslanting palpebral fissures

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Head:
brachycephaly
open anterior fontanel

Muscle Soft Tissue:
generalized muscle weakness
muscle pain

Head And Neck Teeth:
dental crowding

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

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

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

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

Skeletal Skull:
brachycephaly
open anterior fontanel

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

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

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

Skeletal Feet:
talipes equinovarus, bilateral

Genitourinary Internal Genitalia Female:
uterine prolapse after multiple deliveries


Clinical features from OMIM:

615539

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

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 frontal bossing 32 HP:0002007
3 high palate 32 HP:0000218
4 inguinal hernia 32 HP:0000023
5 arthralgia 32 HP:0002829
6 brachycephaly 32 HP:0000248
7 generalized muscle weakness 32 HP:0003324
8 long philtrum 32 HP:0000343
9 protruding ear 32 HP:0000411
10 myalgia 32 HP:0003326
11 talipes equinovarus 32 HP:0001762
12 telecanthus 32 HP:0000506
13 mitral regurgitation 32 HP:0001653
14 arachnodactyly 32 HP:0001166
15 dental crowding 32 HP:0000678
16 mitral valve prolapse 32 HP:0001634
17 downslanted palpebral fissures 32 HP:0000494
18 narrow mouth 32 HP:0000160
19 adducted thumb 32 HP:0001181
20 midface retrusion 32 HP:0011800
21 blue sclerae 32 HP:0000592
22 delayed gross motor development 32 HP:0002194
23 cerebral atrophy 32 HP:0002059
24 camptodactyly 32 HP:0012385
25 patent foramen ovale 32 HP:0001655
26 facial hypotonia 32 HP:0000297

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:

41
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

Variations for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

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

75
# Symbol AA change Variation ID SNP ID
1 DSE p.Ser268Leu VAR_070911 rs398122361

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSE NM_001080976.2(DSE): c.803C> T (p.Ser268Leu) single nucleotide variant Pathogenic rs398122361 GRCh37 Chromosome 6, 116752249: 116752249
2 DSE NM_001080976.2(DSE): c.803C> T (p.Ser268Leu) single nucleotide variant Pathogenic rs398122361 GRCh38 Chromosome 6, 116431086: 116431086
3 DSE NM_013352.3(DSE): c.799A> G (p.Arg267Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 116752245: 116752245
4 DSE NM_013352.3(DSE): c.799A> G (p.Arg267Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 116431082: 116431082
5 DSE NM_013352.3(DSE): c.1897G> A (p.Val633Met) single nucleotide variant Conflicting interpretations of pathogenicity rs550208733 GRCh37 Chromosome 6, 116757528: 116757528
6 DSE NM_013352.3(DSE): c.1897G> A (p.Val633Met) single nucleotide variant Conflicting interpretations of pathogenicity rs550208733 GRCh38 Chromosome 6, 116436365: 116436365
7 DSE NM_013352.3(DSE): c.2619_2621delGGG (p.Gly874del) deletion Benign rs111252008 GRCh38 Chromosome 6, 116437087: 116437089
8 DSE NM_013352.3(DSE): c.2619_2621delGGG (p.Gly874del) deletion Benign rs111252008 GRCh37 Chromosome 6, 116758250: 116758252
9 DSE NM_013352.3(DSE): c.1926C> T (p.Asn642=) single nucleotide variant Benign rs560644 GRCh37 Chromosome 6, 116757557: 116757557
10 DSE NM_013352.3(DSE): c.1926C> T (p.Asn642=) single nucleotide variant Benign rs560644 GRCh38 Chromosome 6, 116436394: 116436394
11 DSE NM_013352.3(DSE): c.2005A> G (p.Ile669Val) single nucleotide variant Uncertain significance rs145999978 GRCh38 Chromosome 6, 116436473: 116436473
12 DSE NM_013352.3(DSE): c.2005A> G (p.Ile669Val) single nucleotide variant Uncertain significance rs145999978 GRCh37 Chromosome 6, 116757636: 116757636

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

Sources for Ehlers-Danlos Syndrome, Musculocontractural Type, 2

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