SEMDK
MCID: SPN425
MIFTS: 24

Spondyloepimetaphyseal Dysplasia, Krakow Type (SEMDK)

Categories: Bone diseases, Genetic diseases, Immune diseases, Mental diseases
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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Krakow Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Krakow Type:

Name: Spondyloepimetaphyseal Dysplasia, Krakow Type 57 73 28 5 38
Immunoosseous Dysplasia, Krakow Type 57 73
Semdk 57 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
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:



Summaries for Spondyloepimetaphyseal Dysplasia, Krakow Type

UniProtKB/Swiss-Prot: 73 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, colon and bone, and related phenotypes are seizure and frontal bossing

OMIM®: 57 Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018). (618162) (Updated 08-Dec-2022)

Related Diseases for Spondyloepimetaphyseal Dysplasia, Krakow Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Krakow Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 HP:0001250
2 frontal bossing 30 HP:0002007
3 constipation 30 HP:0002019
4 high palate 30 HP:0000218
5 hydrocephalus 30 HP:0000238
6 global developmental delay 30 HP:0001263
7 hypertelorism 30 HP:0000316
8 immunodeficiency 30 HP:0002721
9 pectus excavatum 30 HP:0000767
10 atrial septal defect 30 HP:0001631
11 asthma 30 HP:0002099
12 elbow flexion contracture 30 HP:0002987
13 brachydactyly 30 HP:0001156
14 patent ductus arteriosus 30 HP:0001643
15 platybasia 30 HP:0002691
16 eczema 30 HP:0000964
17 bruising susceptibility 30 HP:0000978
18 knee flexion contracture 30 HP:0006380
19 annular pancreas 30 HP:0001734
20 rhizomelia 30 HP:0008905
21 mesomelia 30 HP:0003027
22 2-3 toe syndactyly 30 HP:0004691
23 irregular epiphyses 30 HP:0010582
24 metaphyseal irregularity 30 HP:0003025
25 allergic rhinitis 30 HP:0003193
26 sclerosis of skull base 30 HP:0002694
27 chiari malformation 30 HP:0002308
28 elevated circulating alkaline phosphatase concentration 30 HP:0003155

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Face:
frontal bossing
flattened supraorbital ridges

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

Cardiovascular Heart:
atrial septal defect
patent ductus arteriosus

Skeletal Hands:
brachydactyly
fifth-finger clinodactyly
metaphyseal irregularities
epiphyseal delay
telescoping fingers

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

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

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
Respiratory Airways:
asthma

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 08-Dec-2022)

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

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia, Krakow Type 28 SIK3

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Krakow Type

Organs/tissues related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

MalaCards : Pancreas, Colon, Bone

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. 57 5
30232230 2018

Variations for Spondyloepimetaphyseal Dysplasia, Krakow Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Krakow Type:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SIK3 NM_001366686.3(SIK3):c.559C>T (p.Arg187Cys) SNV Pathogenic
587366 rs1565460853 GRCh37: 11:116797992-116797992
GRCh38: 11:116927276-116927276
2 SIK3 NM_001366686.3(SIK3):c.3551C>G (p.Pro1184Arg) SNV Benign
1332964 GRCh37: 11:116728630-116728630
GRCh38: 11:116857914-116857914
3 SIK3 NM_001366686.3(SIK3):c.2315+45C>A SNV Benign
1332965 GRCh37: 11:116732512-116732512
GRCh38: 11:116861796-116861796
4 SIK3 NM_001366686.3(SIK3):c.1953-11C>T SNV Benign
1332966 GRCh37: 11:116734545-116734545
GRCh38: 11:116863829-116863829
5 SIK3 NM_001366686.3(SIK3):c.1582-37A>G SNV Benign
1332967 GRCh37: 11:116744389-116744389
GRCh38: 11:116873673-116873673

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 rs1565460853

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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