MCID: ACH018
MIFTS: 7

Achondroplasia and Severe Combined Immunodeficiency

Categories: Rare diseases, Bone diseases, Immune diseases

Aliases & Classifications for Achondroplasia and Severe Combined Immunodeficiency

MalaCards integrated aliases for Achondroplasia and Severe Combined Immunodeficiency:

Name: Achondroplasia and Severe Combined Immunodeficiency 53
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 53
Achondroplasia So-Called and Severe Combined Immunodeficiency 53
Slsd with Scid 53

Classifications:



Summaries for Achondroplasia and Severe Combined Immunodeficiency

NIH Rare Diseases : 53 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.

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 12.5

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:

41
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

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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