MCID: ACH018
MIFTS: 7

Achondroplasia and Severe Combined Immunodeficiency

Categories: Rare diseases, Immune diseases, Bone diseases

Aliases & Classifications for Achondroplasia and Severe Combined Immunodeficiency

MalaCards integrated aliases for Achondroplasia and Severe Combined Immunodeficiency:

Name: Achondroplasia and Severe Combined Immunodeficiency 49
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 49
Achondroplasia So-Called and Severe Combined Immunodeficiency 49
Slsd with Scid 49

Classifications:



Summaries for Achondroplasia and Severe Combined Immunodeficiency

NIH Rare Diseases : 49 Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the long bones and other abnormalities affecting the ends of the long bones (metaphyseal abnormalities). Children with this condition have a shortened life expectancy, generally surviving only into early childhood. Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner. Last updated: 4/7/2016

MalaCards based summary : Achondroplasia and Severe Combined Immunodeficiency, also known as short-limb skeletal dysplasia with severe combined immunodeficiency, is related to short-limb skeletal dysplasia with severe combined immunodeficiency. Affiliated tissues include bone.

Related Diseases for Achondroplasia and Severe Combined Immunodeficiency

Diseases related to Achondroplasia and Severe Combined Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short-limb skeletal dysplasia with severe combined immunodeficiency 11.6

Symptoms & Phenotypes for Achondroplasia and Severe Combined Immunodeficiency

Drugs & Therapeutics for Achondroplasia and Severe Combined Immunodeficiency

Search Clinical Trials , NIH Clinical Center for Achondroplasia and Severe Combined Immunodeficiency

Genetic Tests for Achondroplasia and Severe Combined Immunodeficiency

Anatomical Context for Achondroplasia and Severe Combined Immunodeficiency

MalaCards organs/tissues related to Achondroplasia and Severe Combined Immunodeficiency:

38
Bone

Publications for Achondroplasia and Severe Combined Immunodeficiency

Variations for Achondroplasia and Severe Combined Immunodeficiency

Expression for Achondroplasia and Severe Combined Immunodeficiency

Search GEO for disease gene expression data for Achondroplasia and Severe Combined Immunodeficiency.

Pathways for Achondroplasia and Severe Combined Immunodeficiency

GO Terms for Achondroplasia and Severe Combined Immunodeficiency

Sources for Achondroplasia and Severe Combined Immunodeficiency

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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41 MeSH
42 MESH via Orphanet
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58 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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