SEMDK
MCID: SPN425
MIFTS: 22

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 57 72 6
Immunoosseous Dysplasia, Krakow Type 57 72
Semdk 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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 : 72 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 pancreas, bone and colon, and related phenotypes are frontal bossing and constipation

OMIM® : 57 Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018). (618162) (Updated 20-May-2021)

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hydrocephalus
developmental delay
chiari malformation
ventricular enlargement
more
Abdomen Gastrointestinal:
constipation
poor feeding in first year of life
reversed course of colon

Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect
patent ductus arteriosus

Respiratory Airways:
asthma

Skin Nails Hair Skin:
eczema
easy bruising
atrophoderma

Skeletal Limbs:
rhizomelia
mesomelia
irregular epiphyses
elbow contractures
metaphyseal irregularities
more
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

Head And Neck Eyes:
hypertelorism

Immunology:
immunodeficiency
low igm
low cd4, t-cell helper subset
low cd4 absolute count
elevated cd8, cytotoxic t-cell subset
more
Skeletal Hands:
brachydactyly
fifth-finger clinodactyly
metaphyseal irregularities
epiphyseal delay
telescoping fingers

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

Abdomen Pancreas:
annular pancreas

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

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 (Updated 20-May-2021)

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
Pancreas, Bone, Colon

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. 6 57
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 Position
1 SIK3 NM_025164.6(SIK3):c.559C>T (p.Arg187Cys) SNV Pathogenic 587366 rs1565460853 GRCh37: 11:116797992-116797992
GRCh38: 11:116927276-116927276
2 SIK3 NM_025164.6(SIK3):c.1699C>T (p.Arg567Cys) SNV Uncertain significance 1030912 GRCh37: 11:116744235-116744235
GRCh38: 11:116873519-116873519

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

72
# Symbol AA change Variation ID SNP ID
1 SIK3 p.Arg187Cys VAR_081542 rs156546085

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
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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