SEMDK
MCID: SPN425
MIFTS: 17

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 58 76 6
Immunoosseous Dysplasia, Krakow Type 58 76
Semdk 58 76

Characteristics:

OMIM:

58
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


Classifications:



External Ids:

OMIM 58 618162
MeSH 45 D010009

Summaries for Spondyloepimetaphyseal Dysplasia, Krakow Type

UniProtKB/Swiss-Prot : 76 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.

OMIM : 58 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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

Neurologic Central Nervous System:
hydrocephalus
seizures
developmental delay
chiari malformation
ventricular enlargement
more
Growth Height:
short stature

Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect

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

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

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

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

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:

42
Bone, T Cells, Colon, Pancreas

Publications for Spondyloepimetaphyseal Dysplasia, Krakow Type

Variations for Spondyloepimetaphyseal Dysplasia, Krakow Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Krakow Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SIK3 NM_025164.5(SIK3): c.559C> T (p.Arg187Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 116797992: 116797992
2 SIK3 NM_025164.5(SIK3): c.559C> T (p.Arg187Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 116927276: 116927276

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
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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