EISD
MCID: EKN001
MIFTS: 22

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 58 77 60 76 13 41
Eiken Skeletal Dysplasia 58 76 30 6 74
Bone Modeling Defect of Hands and Feet 58 76
Eisd 76

Characteristics:

Orphanet epidemiological data:

60
eiken syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
eiken syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 600002
MeSH 45 D010009
UMLS via Orphanet 75 C1838779
Orphanet 60 ORPHA79106
MedGen 43 C1838779
UMLS 74 C1838779

Summaries for Eiken Syndrome

UniProtKB/Swiss-Prot : 76 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, is also known as eiken skeletal dysplasia. An important gene associated with Eiken Syndrome is PTH1R (Parathyroid Hormone 1 Receptor). Affiliated tissues include bone and cortex, and related phenotypes are arthralgia and epiphyseal dysplasia

Wikipedia : 77 Eiken syndrome is a rareautosomal bone dysplasia with a skeletal phenotype which has been described in a... more...

Description from OMIM: 600002

Related Diseases for Eiken Syndrome

Symptoms & Phenotypes for Eiken Syndrome

Human phenotypes related to Eiken Syndrome:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
2 epiphyseal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002656
3 limited elbow flexion 60 33 hallmark (90%) Very frequent (99-80%) HP:0006376
4 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
5 short palm 60 33 frequent (33%) Frequent (79-30%) HP:0004279
6 short foot 60 33 frequent (33%) Frequent (79-30%) HP:0001773
7 cubitus valgus 60 33 frequent (33%) Frequent (79-30%) HP:0002967
8 short toe 60 33 frequent (33%) Frequent (79-30%) HP:0001831
9 narrow pelvis bone 60 33 frequent (33%) Frequent (79-30%) HP:0003275
10 broad foot 60 33 frequent (33%) Frequent (79-30%) HP:0001769
11 broad palm 60 33 frequent (33%) Frequent (79-30%) HP:0001169
12 absence of the sacrum 60 33 frequent (33%) Frequent (79-30%) HP:0010305
13 short phalanx of finger 60 33 frequent (33%) Frequent (79-30%) HP:0009803
14 fibular hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0003038
15 abnormality of the acetabulum 60 33 frequent (33%) Frequent (79-30%) HP:0003170
16 high iliac wings 60 33 frequent (33%) Frequent (79-30%) HP:0008808
17 delayed epiphyseal ossification 60 33 frequent (33%) Frequent (79-30%) HP:0002663
18 thin bony cortex 60 33 frequent (33%) Frequent (79-30%) HP:0002753
19 abnormal trabecular bone morphology 60 33 frequent (33%) Frequent (79-30%) HP:0100671
20 metaphyseal irregularity 60 33 frequent (33%) Frequent (79-30%) HP:0003025
21 limited hip movement 60 33 frequent (33%) Frequent (79-30%) HP:0008800
22 abnormal fingertip morphology 60 33 frequent (33%) Frequent (79-30%) HP:0001211
23 skeletal dysplasia 33 HP:0002652
24 abnormal bone ossification 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Eiken Syndrome

Search Clinical Trials , NIH Clinical Center for Eiken Syndrome

Genetic Tests for Eiken Syndrome

Genetic tests related to Eiken Syndrome:

# Genetic test Affiliating Genes
1 Eiken Skeletal Dysplasia 30 PTH1R

Anatomical Context for Eiken Syndrome

MalaCards organs/tissues related to Eiken Syndrome:

42
Bone, Cortex

Publications for Eiken Syndrome

Articles related to Eiken Syndrome:

# Title Authors Year
1
Report of second case and clinical and molecular characterization of Eiken syndrome. ( 29987841 )
2018
2
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. ( 15525660 )
2005

Variations for Eiken Syndrome

ClinVar genetic disease variations for Eiken Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTH1R NM_000316.2(PTH1R): c.1453C> T (p.Arg485Ter) single nucleotide variant Pathogenic rs121434603 GRCh37 Chromosome 3, 46944817: 46944817
2 PTH1R NM_000316.2(PTH1R): c.1453C> T (p.Arg485Ter) single nucleotide variant Pathogenic rs121434603 GRCh38 Chromosome 3, 46903327: 46903327
3 PTH1R NM_000316.3(PTH1R): c.103G> A (p.Glu35Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 46935424: 46935424
4 PTH1R NM_000316.3(PTH1R): c.103G> A (p.Glu35Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 46893934: 46893934

Expression for Eiken Syndrome

Search GEO for disease gene expression data for Eiken Syndrome.

Pathways for Eiken Syndrome

GO Terms for Eiken Syndrome

Sources for Eiken Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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