EDSKSCL2
MCID: EHL084
MIFTS: 30

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 (EDSKSCL2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin 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 58 76
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 58 30 13 6 41 74
Edskscl2 58 76
Edskmh 58 76
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss; Edskmh 58
Ehlers-Danlos Syndrome, with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 76
Ehlers-Danlos Syndrome with Kyphoscoliosis, Myopathy, and Hearing Loss 60
Kyphoscoliotic Ehlers-Danlos Syndrome Due to Fkbp22 Deficiency 60
Kyphoscoliotic Eds Due to Fkbp22 Deficiency 60
Fkbp22-Deficient Eds 60
Fkbp14-Related Eds 60
Keds-Fkbp14 60

Characteristics:

Orphanet epidemiological data:

60
kyphoscoliotic ehlers-danlos syndrome due to fkbp22 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
ehlers-danlos syndrome, kyphoscoliotic type, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

UniProtKB/Swiss-Prot : 76 Ehlers-Danlos syndrome, kyphoscoliotic type, 2: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion 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 fkbp14 kyphoscoliotic ehlers-danlos syndrome and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 is FKBP14 (FKBP Prolyl Isomerase 14). Affiliated tissues include skin, skeletal muscle and bone, and related phenotypes are pes planus and sensorineural hearing impairment

OMIM : 58 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 fkbp14 kyphoscoliotic ehlers-danlos syndrome 11.1
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
3 muscle disorders 10.4
4 ehlers-danlos syndrome 10.4
5 myopathy 10.4

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2:



Diseases related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

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

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

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pes planus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001763
2 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
3 myopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003198
4 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
5 myopia 60 33 hallmark (90%) Frequent (79-30%) HP:0000545
6 motor delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001270
7 kyphoscoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002751
8 joint hypermobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001382
9 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
10 severe muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0006829
11 follicular hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0007502
12 poor head control 60 33 hallmark (90%) Very frequent (99-80%) HP:0002421
13 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
14 hernia 60 33 frequent (33%) Frequent (79-30%) HP:0100790
15 easy fatigability 60 33 frequent (33%) Frequent (79-30%) HP:0003388
16 bruising susceptibility 60 33 occasional (7.5%) Frequent (79-30%) HP:0000978
17 atrophic scars 60 33 frequent (33%) Frequent (79-30%) HP:0001075
18 elevated serum creatine kinase 33 frequent (33%) HP:0003236
19 arterial rupture 60 33 occasional (7.5%) Occasional (29-5%) HP:0025019
20 inguinal hernia 33 occasional (7.5%) HP:0000023
21 umbilical hernia 33 occasional (7.5%) HP:0001537
22 patent ductus arteriosus 33 occasional (7.5%) HP:0001643
23 talipes equinovarus 33 occasional (7.5%) HP:0001762
24 bladder diverticulum 33 occasional (7.5%) HP:0000015
25 cleft soft palate 33 occasional (7.5%) HP:0000185
26 disproportionate tall stature 60 33 very rare (1%) Very rare (<4-1%) HP:0001519
27 microcornea 60 33 very rare (1%) Very rare (<4-1%) HP:0000482
28 mixed hearing impairment 33 very rare (1%) HP:0000410
29 atlantoaxial instability 33 very rare (1%) HP:0003467
30 aortic rupture 33 very rare (1%) HP:0031649
31 muscular hypotonia 33 HP:0001252
32 muscle weakness 60 Frequent (79-30%)
33 elevated serum creatine phosphokinase 60 Frequent (79-30%)
34 high-frequency sensorineural hearing impairment 33 HP:0001757
35 abnormality of the globe 60 Occasional (29-5%)
36 soft skin 33 HP:0000977

Symptoms via clinical synopsis from OMIM:

58
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

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)
hypogastric artery rupture (rare)

Skeletal Hands:
hypermobility of small joints

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

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
Head And Neck Ears:
hearing loss, conductive (in some patients)
hearing loss, mixed (in some patients)
hearing loss, sensorineural, high-frequency

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
atlantoaxial instability (rare)

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

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 30 FKBP14

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

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

42
Skin, Skeletal Muscle, Bone

Publications for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

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

# Title Authors Year
1
Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review. ( 27149304 )
2016
2
Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome. ( 24773188 )
2014
3
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 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKBP14 NM_017946.3(FKBP14): c.42_60del (p.Thr15Terfs) deletion Pathogenic GRCh38 Chromosome 7, 30026449: 30026467
2 FKBP14 NM_017946.3(FKBP14): c.42_60del (p.Thr15Terfs) deletion Pathogenic GRCh37 Chromosome 7, 30066065: 30066083
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 GRCh37 Chromosome 7, 30058714: 30058714
14 FKBP14 NM_017946.3(FKBP14): c.375G> C (p.Leu125=) single nucleotide variant Benign/Likely benign rs143268242 GRCh38 Chromosome 7, 30019098: 30019098
15 FKBP14 NM_017946.3(FKBP14): c.357T> G (p.Ile119Met) single nucleotide variant Uncertain significance rs202182643 GRCh37 Chromosome 7, 30058732: 30058732
16 FKBP14 NM_017946.3(FKBP14): c.357T> G (p.Ile119Met) single nucleotide variant Uncertain significance rs202182643 GRCh38 Chromosome 7, 30019116: 30019116
17 FKBP14 NM_017946.3(FKBP14): c.568_570delAAA (p.Lys190del) deletion Conflicting interpretations of pathogenicity rs762279651 GRCh38 Chromosome 7, 30014801: 30014803
18 FKBP14 NM_017946.3(FKBP14): c.568_570delAAA (p.Lys190del) deletion Conflicting interpretations of pathogenicity rs762279651 GRCh37 Chromosome 7, 30054417: 30054419
19 FKBP14 NM_017946.3(FKBP14): c.496_498delAAG (p.Lys166del) deletion Conflicting interpretations of pathogenicity rs542254849 GRCh38 Chromosome 7, 30014873: 30014875
20 FKBP14 NM_017946.3(FKBP14): c.496_498delAAG (p.Lys166del) deletion Conflicting interpretations of pathogenicity rs542254849 GRCh37 Chromosome 7, 30054489: 30054491
21 FKBP14 NM_017946.3(FKBP14): c.350-8C> T single nucleotide variant Likely benign rs368867118 GRCh37 Chromosome 7, 30058747: 30058747
22 FKBP14 NM_017946.3(FKBP14): c.350-8C> T single nucleotide variant Likely benign rs368867118 GRCh38 Chromosome 7, 30019131: 30019131
23 FKBP14 NM_017946.3(FKBP14): c.119G> A (p.Arg40His) single nucleotide variant Uncertain significance rs1554371032 GRCh37 Chromosome 7, 30066006: 30066006
24 FKBP14 NM_017946.3(FKBP14): c.119G> A (p.Arg40His) single nucleotide variant Uncertain significance rs1554371032 GRCh38 Chromosome 7, 30026390: 30026390
25 FKBP14 NM_017946.3(FKBP14): c.495G> A (p.Lys165=) single nucleotide variant Benign/Likely benign rs142474407 GRCh37 Chromosome 7, 30054492: 30054492
26 FKBP14 NM_017946.3(FKBP14): c.495G> A (p.Lys165=) single nucleotide variant Benign/Likely benign rs142474407 GRCh38 Chromosome 7, 30014876: 30014876
27 FKBP14 NM_017946.3(FKBP14): c.50T> C (p.Leu17Ser) single nucleotide variant Uncertain significance rs1554371125 GRCh37 Chromosome 7, 30066075: 30066075
28 FKBP14 NM_017946.3(FKBP14): c.50T> C (p.Leu17Ser) single nucleotide variant Uncertain significance rs1554371125 GRCh38 Chromosome 7, 30026459: 30026459
29 FKBP14 NM_017946.3(FKBP14): c.512A> C (p.His171Pro) single nucleotide variant Uncertain significance rs147665999 GRCh37 Chromosome 7, 30054475: 30054475
30 FKBP14 NM_017946.3(FKBP14): c.512A> C (p.His171Pro) single nucleotide variant Uncertain significance rs147665999 GRCh38 Chromosome 7, 30014859: 30014859
31 FKBP14 NM_017946.3(FKBP14): c.34C> G (p.Leu12Val) single nucleotide variant Benign rs112905680 GRCh37 Chromosome 7, 30066091: 30066091
32 FKBP14 NM_017946.3(FKBP14): c.34C> G (p.Leu12Val) single nucleotide variant Benign rs112905680 GRCh38 Chromosome 7, 30026475: 30026475
33 FKBP14 NM_017946.3(FKBP14): c.467_468delCT (p.Ser156Terfs) deletion Conflicting interpretations of pathogenicity rs753775062 GRCh38 Chromosome 7, 30019005: 30019006
34 FKBP14 NM_017946.3(FKBP14): c.467_468delCT (p.Ser156Terfs) deletion Conflicting interpretations of pathogenicity rs753775062 GRCh37 Chromosome 7, 30058621: 30058622
35 FKBP14 NM_017946.3(FKBP14): c.116A> G (p.His39Arg) single nucleotide variant Uncertain significance rs778007431 GRCh37 Chromosome 7, 30066009: 30066009
36 FKBP14 NM_017946.3(FKBP14): c.116A> G (p.His39Arg) single nucleotide variant Uncertain significance rs778007431 GRCh38 Chromosome 7, 30026393: 30026393
37 FKBP14 NM_017946.3(FKBP14): c.580G> A (p.Asp194Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 30014791: 30014791
38 FKBP14 NM_017946.3(FKBP14): c.580G> A (p.Asp194Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 30054407: 30054407
39 FKBP14 NM_017946.3(FKBP14): c.156T> A (p.Tyr52Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 30026353: 30026353
40 FKBP14 NM_017946.3(FKBP14): c.156T> A (p.Tyr52Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 30065969: 30065969
41 FKBP14 NM_017946.3(FKBP14): c.573_575del (p.Glu191del) deletion Pathogenic GRCh37 Chromosome 7, 30054412: 30054414
42 FKBP14 NM_017946.3(FKBP14): c.573_575del (p.Glu191del) deletion Pathogenic GRCh38 Chromosome 7, 30014796: 30014798

Expression for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

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Pathways for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

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

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