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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 618162

MeSH ⁴⁵ D010009

MedGen ⁴³ CN257750

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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, and related phenotypes are frontal bossing and hydrocephalus

OMIM : ⁵⁸ Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018). (618162)

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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:

³³ (show all 21)

#	Description	HPO Source Accession
1	frontal bossing ³³	HP:0002007
2	hydrocephalus ³³	HP:0000238
3	seizures ³³	HP:0001250
4	constipation ³³	HP:0002019
5	global developmental delay ³³	HP:0001263
6	immunodeficiency ³³	HP:0002721
7	patent ductus arteriosus ³³	HP:0001643
8	atrial septal defect ³³	HP:0001631
9	elbow flexion contracture ³³	HP:0002987
10	rhizomelia ³³	HP:0008905
11	arnold-chiari malformation ³³	HP:0002308
12	brachydactyly ³³	HP:0001156
13	platybasia ³³	HP:0002691
14	bruising susceptibility ³³	HP:0000978
15	eczema ³³	HP:0000964
16	knee flexion contracture ³³	HP:0006380
17	2-3 toe syndactyly ³³	HP:0004691
18	mesomelia ³³	HP:0003027
19	irregular epiphyses ³³	HP:0010582
20	sclerosis of skull base ³³	HP:0002694
21	metaphyseal irregularity ³³	HP:0003025

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

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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:

⁴²

Bone, T Cells, Colon, Pancreas

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Publications for Spondyloepimetaphyseal Dysplasia, Krakow Type

Articles related to Spondyloepimetaphyseal Dysplasia, Krakow Type:

#	Title	Authors	Year
1	The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling. ( 30232230 )	Csukasi F...Krakow D	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	PubmedIds
1	SIK3	SIK Family Kinase 3	Protein Coding	1267.73	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	30232230

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Variations for Spondyloepimetaphyseal Dysplasia, Krakow Type

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

⁷⁶

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

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

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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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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Spondyloepimetaphyseal Dysplasia, Krakow Type (SEMDK)

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Krakow Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Krakow Type:

Characteristics:

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

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

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

ClinVar 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