MCID: EHL084
MIFTS: 29

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

Categories: Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases, Ear diseases

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

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

Name: Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 57
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 57 59 29 13 6 40 73
Edskmh 57 75
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss; Edskmh 57
Ehlers-Danlos Syndrome, with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 75
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Deafness 59
Eds with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 59
Ehlers-Danlos Syndrome, Kyphoscoliotic and Hearing Loss Type 59
Eds with Progressive Kyphoscoliosis, Myopathy, and Deafness 59
Ehlers-Danlos Syndrome, Kyphoscoliotic and Deafness Type 59
Eds, Kyphoscoliotic and Hearing Loss Type 59
Edskscl2 57

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome, kyphoscoliotic and deafness type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood


HPO:

32
ehlers-danlos syndrome, kyphoscoliotic type, 2:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

UniProtKB/Swiss-Prot : 75 Ehlers-Danlos syndrome, with progressive kyphoscoliosis, myopathy, and hearing loss: A syndrome with features of Ehlers-Danlos syndrome types VIA and VIB on the one hand, and the collagen VI-related congenital myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy on the other hand. Clinically, this disorder is characterized by the following features: severe generalized hypotonia at birth with marked muscle weakness that improve in infancy; early-onset progressive kyphoscoliosis; joint hypermobility without contractures; hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring; myopathy; hearing impairment, which is predominantly sensorineural; normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine.

MalaCards based summary : Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2, also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 is FKBP14 (FK506 Binding Protein 14). Affiliated tissues include skin, bone and skeletal muscle, and related phenotypes are osteopenia and pes planus

OMIM : 57 Ehlers-Danlos syndrome kyphoscoliotic type 2 is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine (Baumann et al., 2012). For a discussion of genetic heterogeneity of the kyphoscoliotic type of EDS, see 225400. (614557)

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

Diseases in the Kyphoscoliotic Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Diseases related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
2 ehlers-danlos syndrome 10.3
3 myopathy 10.3

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes planus
hypermobility of small joints
club foot (in some patients)

Neurologic Central Nervous System:
delayed motor development
walking independently at 2.5 years to 4 years of age

Genitourinary External Genitalia Male:
inguinal hernia (in some patients)

Muscle Soft Tissue:
muscular atrophy
severe muscle hypotonia at birth
poor head control in infancy
muscular weakness, improving in infancy (medical research council muscle score of 3 to 4)
myopathy, mild to severe
more
Skeletal:
fractures (rare)
hypermobility of large and small joints (beighton score ranging from 6/9 to 9/9)
dislocations, recurrent (rare)
osteopenia, mild to moderate

Head And Neck Ears:
hearing loss, high-frequency sensorineural

Head And Neck Mouth:
cleft soft palate (in some patients)

Respiratory Lung:
restrictive ventilation disorder due to severe scoliosis (in some patients)

Skeletal Spine:
kyphoscoliosis, progressive

Skin Nails Hair Skin Electron Microscopy:
endoplasmic reticulum cisterns dilated and filled with flocculent material in skin fibroblasts
collagen fibrils normal in shape and diameter

Laboratory Abnormalities:
normal pyridinoline excretion in urine

Skin Nails Hair Skin:
follicular hyperkeratosis
soft skin
hyperelastic skin
plantar softness
easy bruising (in some patients)
more
Abdomen External Features:
inguinal hernia (in some patients)
umbilical hernia (in some patients)
redundant umbilical skin (in some patients)

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)
aortic rupture (rare)

Skeletal Hands:
hypermobility of small joints

Head And Neck Face:
retrogenia in infancy (in some patients)

Head And Neck Eyes:
myopia (in most patients)
bluish sclerae in infancy (rare)

Cardiovascular Heart:
insufficiency of tricuspid valve (in some patients)
insufficiency of mitral valve (rare)

Genitourinary Bladder:
bladder diverticulum (in some patients)

Skeletal Limbs:
hypermobility of large joints

Prenatal Manifestations Movement:
decreased movements in utero (in some patients)


Clinical features from OMIM:

614557

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

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
2 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
3 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
5 elevated serum creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0003236
6 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
7 hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100790
8 myopia 59 32 hallmark (90%) Frequent (79-30%) HP:0000545
9 disproportionate tall stature 59 32 very rare (1%) Very rare (<4-1%) HP:0001519
10 joint hypermobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001382
11 bruising susceptibility 59 32 occasional (7.5%) Frequent (79-30%) HP:0000978
12 microcornea 59 32 very rare (1%) Very rare (<4-1%) HP:0000482
13 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
14 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
15 kyphoscoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002751
16 poor head control 59 32 hallmark (90%) Very frequent (99-80%) HP:0002421
17 follicular hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007502
18 atrophic scars 59 32 frequent (33%) Frequent (79-30%) HP:0001075
19 severe muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006829
20 easy fatigability 59 32 frequent (33%) Frequent (79-30%) HP:0003388
21 arterial rupture 59 32 occasional (7.5%) Occasional (29-5%) HP:0025019
22 muscular hypotonia 32 HP:0001252
23 muscle weakness 59 Frequent (79-30%)
24 inguinal hernia 32 occasional (7.5%) HP:0000023
25 umbilical hernia 32 occasional (7.5%) HP:0001537
26 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
27 talipes equinovarus 32 occasional (7.5%) HP:0001762
28 bladder diverticulum 32 occasional (7.5%) HP:0000015
29 high-frequency sensorineural hearing impairment 32 HP:0001757
30 abnormality of the globe 59 Occasional (29-5%)
31 soft skin 32 HP:0000977
32 cleft soft palate 32 occasional (7.5%) HP:0000185

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

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

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

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

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 29 FKBP14

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

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

41
Skin, Bone, Skeletal Muscle

Publications for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

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

# Title Authors Year
1
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. ( 22265013 )
2012

Variations for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

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

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKBP14 FKBP14, 1-BP INS, 362C insertion Pathogenic
2 FKBP14 FKBP14, 19-BP DEL, NT42 deletion Pathogenic
3 FKBP14 NM_017946.3(FKBP14): c.197+5_197+8delGTAA deletion Pathogenic rs747353360 GRCh38 Chromosome 7, 30026304: 30026307
4 FKBP14 NM_017946.3(FKBP14): c.197+5_197+8delGTAA deletion Pathogenic rs747353360 GRCh37 Chromosome 7, 30065920: 30065923
5 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic/Likely pathogenic rs542489955 GRCh37 Chromosome 7, 30058727: 30058727
6 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic/Likely pathogenic rs542489955 GRCh38 Chromosome 7, 30019111: 30019111
7 FKBP14 NM_017946.3(FKBP14): c.48_50delTTT (p.Leu17del) deletion Conflicting interpretations of pathogenicity rs564626031 GRCh37 Chromosome 7, 30066075: 30066077
8 FKBP14 NM_017946.3(FKBP14): c.48_50delTTT (p.Leu17del) deletion Conflicting interpretations of pathogenicity rs564626031 GRCh38 Chromosome 7, 30026459: 30026461
9 FKBP14 NM_017946.3(FKBP14): c.165C> T (p.Tyr55=) single nucleotide variant Benign rs17150692 GRCh37 Chromosome 7, 30065960: 30065960
10 FKBP14 NM_017946.3(FKBP14): c.165C> T (p.Tyr55=) single nucleotide variant Benign rs17150692 GRCh38 Chromosome 7, 30026344: 30026344
11 FKBP14 NM_017946.3(FKBP14): c.330C> T (p.Gly110=) single nucleotide variant Benign/Likely benign rs148034796 GRCh37 Chromosome 7, 30062300: 30062300
12 FKBP14 NM_017946.3(FKBP14): c.330C> T (p.Gly110=) single nucleotide variant Benign/Likely benign rs148034796 GRCh38 Chromosome 7, 30022684: 30022684
13 FKBP14 NM_017946.3(FKBP14): c.375G> C (p.Leu125=) single nucleotide variant Benign/Likely benign rs143268242 GRCh38 Chromosome 7, 30019098: 30019098
14 FKBP14 NM_017946.3(FKBP14): c.375G> C (p.Leu125=) single nucleotide variant Benign/Likely benign rs143268242 GRCh37 Chromosome 7, 30058714: 30058714
15 FKBP14 NM_017946.3(FKBP14): c.568_570delAAA (p.Lys190del) deletion Conflicting interpretations of pathogenicity rs762279651 GRCh38 Chromosome 7, 30014801: 30014803
16 FKBP14 NM_017946.3(FKBP14): c.568_570delAAA (p.Lys190del) deletion Conflicting interpretations of pathogenicity rs762279651 GRCh37 Chromosome 7, 30054417: 30054419
17 FKBP14 NM_017946.3(FKBP14): c.496_498delAAG (p.Lys166del) deletion Conflicting interpretations of pathogenicity rs542254849 GRCh38 Chromosome 7, 30014873: 30014875
18 FKBP14 NM_017946.3(FKBP14): c.496_498delAAG (p.Lys166del) deletion Conflicting interpretations of pathogenicity rs542254849 GRCh37 Chromosome 7, 30054489: 30054491
19 FKBP14 NM_017946.3(FKBP14): c.350-8C> T single nucleotide variant Likely benign rs368867118 GRCh37 Chromosome 7, 30058747: 30058747
20 FKBP14 NM_017946.3(FKBP14): c.350-8C> T single nucleotide variant Likely benign rs368867118 GRCh38 Chromosome 7, 30019131: 30019131
21 FKBP14 NM_017946.3(FKBP14): c.119G> A (p.Arg40His) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 30066006: 30066006
22 FKBP14 NM_017946.3(FKBP14): c.119G> A (p.Arg40His) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 30026390: 30026390
23 FKBP14 NM_017946.3(FKBP14): c.495G> A (p.Lys165=) single nucleotide variant Benign/Likely benign rs142474407 GRCh37 Chromosome 7, 30054492: 30054492
24 FKBP14 NM_017946.3(FKBP14): c.495G> A (p.Lys165=) single nucleotide variant Benign/Likely benign rs142474407 GRCh38 Chromosome 7, 30014876: 30014876
25 FKBP14 NM_017946.3(FKBP14): c.50T> C (p.Leu17Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 30066075: 30066075
26 FKBP14 NM_017946.3(FKBP14): c.50T> C (p.Leu17Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 30026459: 30026459
27 FKBP14 NM_017946.3(FKBP14): c.512A> C (p.His171Pro) single nucleotide variant Uncertain significance rs147665999 GRCh37 Chromosome 7, 30054475: 30054475
28 FKBP14 NM_017946.3(FKBP14): c.512A> C (p.His171Pro) single nucleotide variant Uncertain significance rs147665999 GRCh38 Chromosome 7, 30014859: 30014859
29 FKBP14 NM_017946.3(FKBP14): c.34C> G (p.Leu12Val) single nucleotide variant Benign rs112905680 GRCh37 Chromosome 7, 30066091: 30066091
30 FKBP14 NM_017946.3(FKBP14): c.34C> G (p.Leu12Val) single nucleotide variant Benign rs112905680 GRCh38 Chromosome 7, 30026475: 30026475
31 FKBP14 NM_017946.3(FKBP14): c.467_468delCT (p.Ser156Terfs) deletion Conflicting interpretations of pathogenicity rs753775062 GRCh38 Chromosome 7, 30019005: 30019006
32 FKBP14 NM_017946.3(FKBP14): c.467_468delCT (p.Ser156Terfs) deletion Conflicting interpretations of pathogenicity rs753775062 GRCh37 Chromosome 7, 30058621: 30058622
33 FKBP14 NM_017946.3(FKBP14): c.116A> G (p.His39Arg) single nucleotide variant Uncertain significance rs778007431 GRCh37 Chromosome 7, 30066009: 30066009
34 FKBP14 NM_017946.3(FKBP14): c.116A> G (p.His39Arg) single nucleotide variant Uncertain significance rs778007431 GRCh38 Chromosome 7, 30026393: 30026393

Expression for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

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

Pathways for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

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

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