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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618162

MeSH ⁴⁴ D010009

MedGen ⁴¹ C4748455 CN257750

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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)

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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:

³¹ (show all 28)

#	Description	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)

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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

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Anatomical Context for Spondyloepimetaphyseal Dysplasia, Krakow Type

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

⁴⁰

Pancreas, Bone, Colon

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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. ⁶ ⁵⁷	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	1267.39	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	30232230

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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

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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 BioSystems

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³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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²⁰ GARD

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Spondyloepimetaphyseal Dysplasia, Krakow Type (SEMDK)

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Krakow Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Krakow Type:

Characteristics:

OMIM®:

HPO:

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

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Krakow Type

MalaCards 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

Sources for Spondyloepimetaphyseal Dysplasia, Krakow Type