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 53 73
Astley-Kendall Dysplasia 53 59
Short Limbed Dwarfism with Extensive Stippling 53

Characteristics:

Orphanet epidemiological data:

59
astley-kendall dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:



External Ids:

Orphanet 59 ORPHA85175
ICD10 via Orphanet 34 Q77.3
UMLS via Orphanet 74 C1300228
SNOMED-CT via HPO 69 74370006 360507004
UMLS 73 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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
2 epiphyseal stippling 59 32 hallmark (90%) Very frequent (99-80%) HP:0010655
3 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
4 abnormality of skull ossification 59 32 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:

41
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 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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