SEMDK
MCID: SPN425
MIFTS: 21

Spondyloepimetaphyseal Dysplasia, Krakow Type (SEMDK)

Categories: Bone diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Krakow Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Krakow Type:

Name: Spondyloepimetaphyseal Dysplasia, Krakow Type 56 73 6
Immunoosseous Dysplasia, Krakow Type 56 73
Semdk 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 sibs (last curated october 2018)
patients were wheelchair bound and never walked
one sib died at age 10 years of epstein-barr virus-induced small-muscle cancer


HPO:

31
spondyloepimetaphyseal dysplasia, krakow type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia, Krakow Type

UniProtKB/Swiss-Prot : 73 Spondyloepimetaphyseal dysplasia, Krakow type: An autosomal recessive skeletal disorder characterized by severe spondyloepimetaphyseal dysplasia, rhizomelia, mesomelia with significant anterior bowing of all limbs, severe immunodeficiency, and developmental delay.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Krakow Type, is also known as immunoosseous dysplasia, krakow type. An important gene associated with Spondyloepimetaphyseal Dysplasia, Krakow Type is SIK3 (SIK Family Kinase 3). Affiliated tissues include bone, t cells and colon, and related phenotypes are hypertelorism and pectus excavatum

OMIM : 56 Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018). (618162)

Related Diseases for Spondyloepimetaphyseal Dysplasia, Krakow Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Krakow Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 pectus excavatum 31 HP:0000767
3 frontal bossing 31 HP:0002007
4 seizures 31 HP:0001250
5 constipation 31 HP:0002019
6 high palate 31 HP:0000218
7 hydrocephalus 31 HP:0000238
8 global developmental delay 31 HP:0001263
9 brachydactyly 31 HP:0001156
10 immunodeficiency 31 HP:0002721
11 patent ductus arteriosus 31 HP:0001643
12 atrial septal defect 31 HP:0001631
13 elbow flexion contracture 31 HP:0002987
14 rhizomelia 31 HP:0008905
15 2-3 toe syndactyly 31 HP:0004691
16 arnold-chiari malformation 31 HP:0002308
17 asthma 31 HP:0002099
18 platybasia 31 HP:0002691
19 bruising susceptibility 31 HP:0000978
20 eczema 31 HP:0000964
21 knee flexion contracture 31 HP:0006380
22 annular pancreas 31 HP:0001734
23 mesomelia 31 HP:0003027
24 elevated alkaline phosphatase 31 HP:0003155
25 allergic rhinitis 31 HP:0003193
26 irregular epiphyses 31 HP:0010582
27 sclerosis of skull base 31 HP:0002694
28 metaphyseal irregularity 31 HP:0003025

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism

Neurologic Central Nervous System:
seizures
hydrocephalus
developmental delay
chiari malformation
ventricular enlargement
more
Skeletal Hands:
brachydactyly
fifth-finger clinodactyly
metaphyseal irregularities
epiphyseal delay
telescoping fingers

Immunology:
immunodeficiency
low igm
low cd4, t-cell helper subset
low cd4 absolute count
elevated cd8, cytotoxic t-cell subset
more
Skeletal Limbs:
rhizomelia
mesomelia
irregular epiphyses
elbow contractures
metaphyseal irregularities
more
Respiratory Airways:
asthma

Skin Nails Hair Skin:
eczema
easy bruising
atrophoderma

Head And Neck Nose:
allergic rhinitis

Chest External Features:
pectus excavatum, mild

Skeletal Pelvis:
delayed ossification of pubic bone

Laboratory Abnormalities:
mildly elevated serum calcium level
elevated alkaline phosphatase level
low igf1 level
low igfbp3 level

Head And Neck Face:
frontal bossing
flattened supraorbital ridges

Abdomen Gastrointestinal:
constipation
poor feeding in first year of life
reversed course of colon

Growth Height:
short stature

Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect

Skeletal Feet:
2-3 toe syndactyly
ankle laxity
positional equinovarus

Skeletal Skull:
platybasia
sclerosis of skull base
delayed ossification of fontanel
delayed ossification of basal occipital bone

Abdomen Pancreas:
annular pancreas

Head And Neck Mouth:
high-arched palate

Skeletal Spine:
round vertebral bodies
delayed ossification of posterior elements

Neoplasia:
epstein-barr virus-induced small-muscle cancer (in 1 patient)

Clinical features from OMIM:

618162

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Krakow Type

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Krakow Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Krakow Type

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Krakow Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

40
Bone, T Cells, Colon, Pancreas

Publications for Spondyloepimetaphyseal Dysplasia, Krakow Type

Articles related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

# Title Authors PMID Year
1
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling. 56 6
30232230 2018

Variations for Spondyloepimetaphyseal Dysplasia, Krakow Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Krakow Type:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SIK3 NM_025164.6(SIK3):c.559C>T (p.Arg187Cys)SNV Pathogenic 587366 rs1565460853 11:116797992-116797992 11:116927276-116927276

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Krakow Type:

73
# Symbol AA change Variation ID SNP ID
1 SIK3 p.Arg187Cys VAR_081542

Expression for Spondyloepimetaphyseal Dysplasia, Krakow Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Krakow Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Krakow Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Krakow Type

Sources for Spondyloepimetaphyseal Dysplasia, Krakow Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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