SEDKF
MCID: SPN433
MIFTS: 14

Spondyloepiphyseal Dysplasia, Kondo-Fu Type (SEDKF)

Categories: Blood diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Kondo-Fu Type:

Name: Spondyloepiphyseal Dysplasia, Kondo-Fu Type 58 6
Sed with Elevated Blood Lysosomal Enzymes 58
Sedkf 58

Characteristics:

OMIM:

58
Miscellaneous:
waddling gait
based on report of 1 patient (last curated april 2019)

Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 58 618392

Summaries for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

OMIM : 58 The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is characterized by severely retarded growth and skeletal anomalies, including spondyloepiphyseal dysplasia with associated kyphosis and reduced bone mineral density. Elevated levels of blood lysosomal enzymes have also been observed (Kondo et al., 2018). (618392)

MalaCards based summary : Spondyloepiphyseal Dysplasia, Kondo-Fu Type, is also known as sed with elevated blood lysosomal enzymes. An important gene associated with Spondyloepiphyseal Dysplasia, Kondo-Fu Type is MBTPS1 (Membrane Bound Transcription Factor Peptidase, Site 1). Affiliated tissues include bone.

Related Diseases for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
kyphosis
stable complete anterolisthesis of l5 on s1

Growth Height:
short stature

Skeletal Hands:
brachydactyly
delayed ossification of carpal bones
shortening of tubular bones

Growth Other:
small for gestational age
growth drop-off at 6 months of age

Growth Weight:
low weight

Head And Neck Eyes:
bilateral cataracts, early-onset

Neurologic Central Nervous System:
delayed gross motor milestones

Chest External Features:
pectus carinatum

Head And Neck Face:
prominent forehead
prominent cheekbones

Head And Neck Ears:
posteriorly rotated ears
large ears

Skeletal:
spondyloepiphyseal dysplasia
low bone mineral density

Skeletal Limbs:
delayed ossification of epiphyses
bilateral shortening of femoral necks
irregular and dysplastic appearance of femoral epiphyses
irregular and dysplastic appearance of proximal tibial epiphyses
gracile fibulae
more
Genitourinary External Genitalia Female:
bilateral inguinal hernias

Laboratory Abnormalities:
markedly elevated lysosomal enzymes
elevated beta-galactosidase
elevated beta-mannosidase
elevated alpha-mannosidase
elevated beta-glucuronidase
more

Clinical features from OMIM:

618392

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

Genetic Tests for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

Anatomical Context for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia, Kondo-Fu Type:

42
Bone

Publications for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

Articles related to Spondyloepiphyseal Dysplasia, Kondo-Fu Type:

# Title Authors Year
1
Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. ( 30046013 )
2018

Variations for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia, Kondo-Fu Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MBTPS1 NM_003791.3(MBTPS1): c.285dup (p.Asp96Terfs) duplication Pathogenic GRCh38 Chromosome 16, 84099189: 84099189
2 MBTPS1 NM_003791.3(MBTPS1): c.285dup (p.Asp96Terfs) duplication Pathogenic GRCh37 Chromosome 16, 84132794: 84132794
3 MBTPS1 NM_003791.4(MBTPS1): c.1094A> G (p.Asp365Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 84121003: 84121003
4 MBTPS1 NM_003791.4(MBTPS1): c.1094A> G (p.Asp365Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 84087398: 84087398

Expression for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Pathways for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

GO Terms for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

Sources for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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