MCID: AST010
MIFTS: 14

Astley-Kendall Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Astley-Kendall Syndrome

MalaCards integrated aliases for Astley-Kendall Syndrome:

Name: Astley-Kendall Syndrome 54 74
Astley-Kendall Dysplasia 54 60
Short Limbed Dwarfism with Extensive Stippling 54

Characteristics:

Orphanet epidemiological data:

60
astley-kendall dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q77.3
UMLS via Orphanet 75 C1300228
Orphanet 60 ORPHA85175
SNOMED-CT via HPO 70 360507004 74370006
UMLS 74 C1300228

Summaries for Astley-Kendall Syndrome

MalaCards based summary : Astley-Kendall Syndrome, also known as astley-kendall dysplasia, is related to chondrodysplasia punctata syndrome and brittle bone disorder. Affiliated tissues include bone, and related phenotypes are micromelia and epiphyseal stippling

Related Diseases for Astley-Kendall Syndrome

Diseases related to Astley-Kendall Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata syndrome 10.5
2 brittle bone disorder 10.5

Symptoms & Phenotypes for Astley-Kendall Syndrome

Human phenotypes related to Astley-Kendall Syndrome:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
2 epiphyseal stippling 60 33 hallmark (90%) Very frequent (99-80%) HP:0010655
3 disproportionate short-limb short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008873
4 abnormality of skull ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0002703

Drugs & Therapeutics for Astley-Kendall Syndrome

Search Clinical Trials , NIH Clinical Center for Astley-Kendall Syndrome

Genetic Tests for Astley-Kendall Syndrome

Anatomical Context for Astley-Kendall Syndrome

MalaCards organs/tissues related to Astley-Kendall Syndrome:

42
Bone

Publications for Astley-Kendall Syndrome

Articles related to Astley-Kendall Syndrome:

# Title Authors Year
1
A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder. ( 9643294 )
1998

Variations for Astley-Kendall Syndrome

Expression for Astley-Kendall Syndrome

Search GEO for disease gene expression data for Astley-Kendall Syndrome.

Pathways for Astley-Kendall Syndrome

GO Terms for Astley-Kendall Syndrome

Sources for Astley-Kendall 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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