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 57 76 59 75 13 40
Eiken Skeletal Dysplasia 57 75 29 6 73
Bone Modeling Defect of Hands and Feet 57 75
Eisd 75

Characteristics:

Orphanet epidemiological data:

59
eiken syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
ossification of bones improves with age
based on a report of one consanguineous turkish family


HPO:

32
eiken syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 600002
Orphanet 59 ORPHA79106
UMLS via Orphanet 74 C1838779
MedGen 42 C1838779
MeSH 44 D010009
UMLS 73 C1838779

Summaries for Eiken Syndrome

UniProtKB/Swiss-Prot : 75 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 short stature and arthralgia

Wikipedia : 76 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

Symptoms via clinical synopsis from OMIM:

57
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

Growth Height:
short stature (<0.3 sd)

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

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

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

Skeletal Spine:
agenesis of the sacrum, partial


Clinical features from OMIM:

600002

Human phenotypes related to Eiken Syndrome:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
2 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
3 epiphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002656
4 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
5 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
6 cubitus valgus 59 32 frequent (33%) Frequent (79-30%) HP:0002967
7 short toe 59 32 frequent (33%) Frequent (79-30%) HP:0001831
8 narrow pelvis bone 59 32 frequent (33%) Frequent (79-30%) HP:0003275
9 broad foot 59 32 frequent (33%) Frequent (79-30%) HP:0001769
10 broad palm 59 32 frequent (33%) Frequent (79-30%) HP:0001169
11 absence of the sacrum 59 32 frequent (33%) Frequent (79-30%) HP:0010305
12 short phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009803
13 limited hip movement 59 32 frequent (33%) Frequent (79-30%) HP:0008800
14 limited elbow flexion 59 32 hallmark (90%) Very frequent (99-80%) HP:0006376
15 fibular hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0003038
16 abnormality of the acetabulum 59 32 frequent (33%) Frequent (79-30%) HP:0003170
17 high iliac wings 59 32 frequent (33%) Frequent (79-30%) HP:0008808
18 delayed epiphyseal ossification 59 32 frequent (33%) Frequent (79-30%) HP:0002663
19 thin bony cortex 59 32 frequent (33%) Frequent (79-30%) HP:0002753
20 abnormal trabecular bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0100671
21 metaphyseal irregularity 59 32 frequent (33%) Frequent (79-30%) HP:0003025
22 abnormality of the fingertips 59 32 frequent (33%) Frequent (79-30%) HP:0001211
23 skeletal dysplasia 32 HP:0002652
24 abnormal bone ossification 59 Frequent (79-30%)

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 29 PTH1R

Anatomical Context for Eiken Syndrome

MalaCards organs/tissues related to Eiken Syndrome:

41
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

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_000316.2(PTH1R): c.103G> A (p.Glu35Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 46935424: 46935424
4 PTH1R NM_000316.2(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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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