EISD
MCID: EKN001
MIFTS: 39

Eiken Syndrome (EISD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Eiken Syndrome

MalaCards integrated aliases for Eiken Syndrome:

Name: Eiken Syndrome 57 12 73 58 72 13 15 39
Eiken Skeletal Dysplasia 57 12 72 29 6 44 70
Bone Modeling Defect of Hands and Feet 57 12 72
Eisd 72

Characteristics:

Orphanet epidemiological data:

58
eiken syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
ossification of bones improves with age
based on reports of 3 turkish brothers and an unrelated boy (last curated january 2019)


HPO:

31
eiken syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111732
OMIM® 57 600002
SNOMED-CT 67 720863002
UMLS via Orphanet 71 C1838779
Orphanet 58 ORPHA79106
MedGen 41 C1838779
UMLS 70 C1838779

Summaries for Eiken Syndrome

UniProtKB/Swiss-Prot : 72 Eiken skeletal dysplasia: A rare skeletal dysplasia characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands and feet, as well as by abnormal modeling of the bones in hands and feet, abnormal persistence of cartilage in the pelvis and mild growth retardation.

MalaCards based summary : Eiken Syndrome, also known as eiken skeletal dysplasia, is related to osteochondrodysplasia and chondromyxoid fibroma. An important gene associated with Eiken Syndrome is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Presynaptic function of Kainate receptors and G alpha (s) signalling events. Affiliated tissues include bone and cortex, and related phenotypes are epiphyseal dysplasia and arthralgia

Disease Ontology : 12 A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has material basis in homozygous or compound heterozygous mutation in PTHR1 on chromosome 3p21.31.

Wikipedia : 73 Eiken syndrome is a rare autosomal bone dysplasia with a skeletal phenotype which has been described in... more...

More information from OMIM: 600002

Related Diseases for Eiken Syndrome

Diseases related to Eiken Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 osteochondrodysplasia 29.3 SLC35D1 SHOX PTHLH PTH1R PTH
2 chondromyxoid fibroma 10.2 PTHLH PTH1R
3 pediatric ovarian germ cell tumor 10.2 PTHLH PTH
4 malignant ovarian brenner tumor 10.2 PTHLH PTH
5 pediatric ovarian dysgerminoma 10.2 PTHLH PTH
6 hypertension and brachydactyly syndrome 10.2 PTHLH PTH1R
7 metachondromatosis 10.2 PTHLH PTH1R
8 oncogenic osteomalacia 10.2 PTHLH PTH
9 failure of tooth eruption, primary 10.2 PTHLH PTH1R
10 osteomalacia 10.2 PTHLH PTH
11 multiple enchondromatosis, maffucci type 10.2 PTHLH PTH1R
12 sclerosing hepatic carcinoma 10.2 PTHLH PTH
13 invasive malignant thymoma 10.2 PTHLH PTH
14 hypervitaminosis d 10.2 PTHLH PTH
15 pseudopseudohypoparathyroidism 10.2 PTHLH PTH
16 phosphorus metabolism disease 10.2 PTHLH PTH
17 chondroblastoma 10.1 PTHLH PTH1R
18 van buchem disease 10.1 PTH1R PTH
19 ischemic bone disease 10.1 PTHLH PTH
20 brachydactyly, type a1 10.1 PTHLH PTH1R
21 osseous heteroplasia, progressive 10.1 PTHLH PTH
22 familial hypocalciuric hypercalcemia 10.1 PTHLH PTH
23 metaphyseal dysplasia 10.1 PTHLH PTH1R
24 caffey disease 10.1 SLC35D1 PTH
25 hypocalcemia, autosomal dominant 1 10.1 PTHLH PTH
26 achondroplasia 10.0 SHOX PTH1R
27 hypercalcemia, infantile, 1 10.0 PTHLH PTH1R PTH
28 metaphyseal chondrodysplasia, jansen type 10.0 PTHLH PTH1R PTH
29 chondrodysplasia, blomstrand type 10.0 PTHLH PTH1R PTH
30 pseudohypoparathyroidism, type ia 10.0 PTHLH PTH1R PTH
31 pseudohypoparathyroidism 10.0 PTHLH PTH1R PTH
32 hypoparathyroidism 10.0 PTHLH PTH1R PTH
33 enchondromatosis, multiple, ollier type 10.0 PTHLH PTH1R PTH
34 acrodysostosis 10.0 PTHLH PTH1R PTH
35 pseudohypoparathyroidism, type ib 10.0 PTHLH PTH1R PTH
36 hyperprolactinemia 10.0 PTHLH PTH
37 parathyroid gland disease 10.0 PTHLH PTH1R PTH
38 mineral metabolism disease 10.0 PTHLH PTH1R PTH
39 hypophosphatemia 10.0 PTHLH PTH1R PTH
40 parametritis 10.0 TXNDC17 PTH
41 bone resorption disease 10.0 PTHLH PTH1R PTH
42 secondary hyperparathyroidism 10.0 PTH1R PTH
43 bone remodeling disease 10.0 PTHLH PTH1R PTH
44 primary hyperparathyroidism 10.0 PTHLH PTH1R PTH
45 brittle bone disorder 10.0 PTHLH PTH1R PTH
46 osteogenic sarcoma 10.0 PTHLH PTH1R PTH
47 bone disease 10.0 PTHLH PTH1R PTH
48 parathyroid adenoma 9.9 PTHLH PTH
49 bone development disease 9.8 SHOX PTHLH PTH1R PTH
50 paget's disease of bone 9.8 PTHLH PTH

Graphical network of the top 20 diseases related to Eiken Syndrome:



Diseases related to Eiken Syndrome

Symptoms & Phenotypes for Eiken Syndrome

Human phenotypes related to Eiken Syndrome:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epiphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002656
2 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
3 limited elbow flexion 58 31 hallmark (90%) Very frequent (99-80%) HP:0006376
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 cubitus valgus 58 31 frequent (33%) Frequent (79-30%) HP:0002967
6 short toe 58 31 frequent (33%) Frequent (79-30%) HP:0001831
7 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
8 narrow pelvis bone 58 31 frequent (33%) Frequent (79-30%) HP:0003275
9 broad foot 58 31 frequent (33%) Frequent (79-30%) HP:0001769
10 broad palm 58 31 frequent (33%) Frequent (79-30%) HP:0001169
11 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
12 absence of the sacrum 58 31 frequent (33%) Frequent (79-30%) HP:0010305
13 short phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009803
14 fibular hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0003038
15 high iliac wings 58 31 frequent (33%) Frequent (79-30%) HP:0008808
16 metaphyseal irregularity 58 31 frequent (33%) Frequent (79-30%) HP:0003025
17 abnormality of the acetabulum 58 31 frequent (33%) Frequent (79-30%) HP:0003170
18 abnormal fingertip morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001211
19 delayed epiphyseal ossification 58 31 frequent (33%) Frequent (79-30%) HP:0002663
20 thin bony cortex 58 31 frequent (33%) Frequent (79-30%) HP:0002753
21 limited hip movement 58 31 frequent (33%) Frequent (79-30%) HP:0008800
22 abnormal trabecular bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0100671
23 skeletal dysplasia 31 HP:0002652
24 brachydactyly 31 HP:0001156
25 abnormal bone ossification 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
normal intelligence

Skeletal Hands:
short fingers
delayed ossification of the bones in the hands
abnormal modeling of bones of the hands
brachydactyly, type a1

Growth Height:
short stature (<0.3 sd)

Skeletal Spine:
agenesis of the sacrum, partial

Skeletal Limbs:
short fibulae
delayed ossification of the epiphyses, severe
reduced elbow flexion

Skeletal Pelvis:
narrow pelvis
delayed ossification of the pelvis, severe

Head And Neck Teeth:
failure of eruption of primary teeth

Skeletal Feet:
delayed ossification of bones in the feet, severe
abnormal modeling of bones of the feet

Clinical features from OMIM®:

600002 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Eiken Syndrome according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.4 SHOX
2 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.4 TXNDC17
3 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.4 TXNDC17
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.4 SHOX
5 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.4 TXNDC17
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.4 SHOX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.4 TXNDC17
8 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.4 CRELD2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 SHOX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.4 CRELD2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.4 CRELD2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.4 CRELD2

Drugs & Therapeutics for Eiken Syndrome

Search Clinical Trials , NIH Clinical Center for Eiken Syndrome

Cochrane evidence based reviews: eiken skeletal dysplasia

Genetic Tests for Eiken Syndrome

Genetic tests related to Eiken Syndrome:

# Genetic test Affiliating Genes
1 Eiken Skeletal Dysplasia 29 PTH1R

Anatomical Context for Eiken Syndrome

MalaCards organs/tissues related to Eiken Syndrome:

40
Bone, Cortex

Publications for Eiken Syndrome

Articles related to Eiken Syndrome:

# Title Authors PMID Year
1
Report of second case and clinical and molecular characterization of Eiken syndrome. 61 6 57
29987841 2018
2
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. 61 57 6
15525660 2005
3
A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet. 57
6734674 1984
4
The third family with Eiken syndrome. 61
31297790 2019
5
A new acro-osteolysis syndrome caused by duplications including PTHLH. 61
25007883 2014

Variations for Eiken Syndrome

ClinVar genetic disease variations for Eiken Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTH1R NM_000316.3(PTH1R):c.1453C>T (p.Arg485Ter) SNV Pathogenic 13749 rs121434603 GRCh37: 3:46944817-46944817
GRCh38: 3:46903327-46903327
2 PTH1R NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys) SNV Uncertain significance 545721 rs1559532562 GRCh37: 3:46935424-46935424
GRCh38: 3:46893934-46893934
3 PTH1R NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser) SNV Uncertain significance 631484 rs1575520937 GRCh37: 3:46939432-46939432
GRCh38: 3:46897942-46897942

Expression for Eiken Syndrome

Search GEO for disease gene expression data for Eiken Syndrome.

Pathways for Eiken Syndrome

GO Terms for Eiken Syndrome

Biological processes related to Eiken Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bone mineralization GO:0030282 9.46 PTHLH PTH1R
2 bone resorption GO:0045453 9.43 PTH1R PTH
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.43 PTHLH PTH1R PTH
4 negative regulation of chondrocyte differentiation GO:0032331 9.4 PTHLH PTH
5 osteoblast development GO:0002076 9.37 PTHLH PTH1R
6 G protein-coupled receptor internalization GO:0002031 9.32 SAG ARRB1
7 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.16 PTH1R PTH
8 cAMP metabolic process GO:0046058 8.96 PTHLH PTH
9 skeletal system development GO:0001501 8.92 SHOX PTHLH PTH1R PTH

Molecular functions related to Eiken Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 9.16 SAG ARRB1
2 phosphoprotein binding GO:0051219 8.96 SAG ARRB1
3 peptide hormone receptor binding GO:0051428 8.62 PTHLH PTH

Sources for Eiken Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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