SEDKF
MCID: SPN433
MIFTS: 20

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 57 72 6 17
Sed with Elevated Blood Lysosomal Enzymes 57 72
Sedkf 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
waddling gait
based on report of 1 patient (last curated april 2019)

Inheritance:
autosomal recessive


HPO:

31
spondyloepiphyseal dysplasia, kondo-fu type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

UniProtKB/Swiss-Prot : 72 Spondyloepiphyseal dysplasia, Kondo-Fu type: A disorder characterized by severely retarded growth, spondyloepiphyseal dysplasia, reduced bone mineral density, and markedly elevated plasma levels of various lysosomal enzymes. Additional features include pectus carinatum, kyphosis, a waddling gait, brachydactyly and dysmorphic facial features. SEDKF transmission pattern is consistent with autosomal recessive inheritance.

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, and related phenotypes are kyphosis and macrotia

OMIM® : 57 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) (Updated 20-May-2021)

Related Diseases for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

Human phenotypes related to Spondyloepiphyseal Dysplasia, Kondo-Fu Type:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 kyphosis 31 HP:0002808
2 macrotia 31 HP:0000400
3 pectus carinatum 31 HP:0000768
4 short stature 31 HP:0004322
5 prominent forehead 31 HP:0011220
6 waddling gait 31 HP:0002515
7 brachydactyly 31 HP:0001156
8 posteriorly rotated ears 31 HP:0000358
9 small for gestational age 31 HP:0001518
10 spondyloepiphyseal dysplasia 31 HP:0002655
11 delayed ossification of carpal bones 31 HP:0001216

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Bone

Publications for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

Articles related to Spondyloepiphyseal Dysplasia, Kondo-Fu Type:

# Title Authors PMID Year
1
Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. 57 6
30046013 2018

Variations for Spondyloepiphyseal Dysplasia, Kondo-Fu Type

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MBTPS1 NM_003791.4(MBTPS1):c.285dup (p.Asp96Ter) Duplication Pathogenic 625457 rs771258750 GRCh37: 16:84132793-84132794
GRCh38: 16:84099188-84099189
2 MBTPS1 NM_003791.4(MBTPS1):c.1094A>G (p.Asp365Gly) SNV Pathogenic 625458 rs1226321681 GRCh37: 16:84121003-84121003
GRCh38: 16:84087398-84087398
3 MBTPS1 NM_003791.4(MBTPS1):c.2948G>A (p.Trp983Ter) SNV Pathogenic 812671 GRCh37: 16:84089624-84089624
GRCh38: 16:84056019-84056019
4 MBTPS1 NM_003791.4(MBTPS1):c.1995C>G (p.Tyr665Ter) SNV Pathogenic 976662 GRCh37: 16:84102020-84102020
GRCh38: 16:84068415-84068415
5 MBTPS1 NM_003791.4(MBTPS1):c.955G>T (p.Val319Phe) SNV Likely pathogenic 976663 GRCh37: 16:84125345-84125345
GRCh38: 16:84091740-84091740

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepiphyseal Dysplasia, Kondo-Fu Type:

72
# Symbol AA change Variation ID SNP ID
1 MBTPS1 p.Asp365Gly VAR_082197 rs122632168

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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