Spondyloepimetaphyseal Dysplasia, Krakow Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Bone diseases Immune diseases Mental diseases

See all MalaCards categories (disease lists)

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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)

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Related Diseases for Spondyloepimetaphyseal Dysplasia, Krakow Type

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Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Krakow Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

³⁰ (show all 28)

#	Description	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)

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Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Krakow Type

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

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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

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Anatomical Context for Spondyloepimetaphyseal Dysplasia, Krakow Type

Organs/tissues related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

MalaCards : Pancreas, Colon, Bone

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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	Csukasi F...Krakow D	30232230	2018

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Genes for Spondyloepimetaphyseal Dysplasia, Krakow Type

Genes related to Spondyloepimetaphyseal Dysplasia, Krakow Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SIK3	SIK Family Kinase 3	Protein Coding	1358.14	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders (show sections)	30232230

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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

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Expression for Spondyloepimetaphyseal Dysplasia, Krakow Type

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

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Pathways for Spondyloepimetaphyseal Dysplasia, Krakow Type

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GO Terms for Spondyloepimetaphyseal Dysplasia, Krakow Type

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Sources for Spondyloepimetaphyseal Dysplasia, Krakow Type

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SEMDK MCID: SPN425 MIFTS: 24	Spondyloepimetaphyseal Dysplasia, Krakow Type (SEMDK) Categories: Bone diseases, Genetic diseases, Immune diseases, Mental diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Spondyloepimetaphyseal Dysplasia, Krakow Type (SEMDK)

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Krakow Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Krakow Type:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Spondyloepimetaphyseal Dysplasia, Krakow Type

Related Diseases for Spondyloepimetaphyseal Dysplasia, Krakow Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Krakow Type

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Krakow Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Krakow Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Krakow Type

Organs/tissues related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

Publications for Spondyloepimetaphyseal Dysplasia, Krakow Type

Articles related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

Genes for Spondyloepimetaphyseal Dysplasia, Krakow Type

Genes related to Spondyloepimetaphyseal Dysplasia, Krakow Type (1 elite genes):

Variations for Spondyloepimetaphyseal Dysplasia, Krakow Type

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Krakow Type:

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

Expression for Spondyloepimetaphyseal Dysplasia, Krakow Type

Pathways for Spondyloepimetaphyseal Dysplasia, Krakow Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Krakow Type

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