MCID: SHR096
MIFTS: 23

Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency

Categories: Blood diseases, Bone diseases, Immune diseases, Rare diseases

Aliases & Classifications for Short-Limb Skeletal Dysplasia with Severe Combined...

MalaCards integrated aliases for Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency:

Name: Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 56 52 58
Achondroplasia-Severe Combined Immunodeficiency Syndrome 52 58
Achondroplasia-Swiss Type Agammaglobulinemia Syndrome 52 58
Immunodeficiency-Short Limb Dwarfism Syndrome 52 58
Short Limb Skeletal Dysplasia with Scid 52 58
Achondroplasia-Scid Syndrome 52 58
Slsd with Scid 56 52
Achondroplasia, So-Called, and Severe Combined Immunodeficiency 56
Achondroplasia So-Called and Severe Combined Immunodeficiency 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
early lethal


HPO:

31
short-limb skeletal dysplasia with severe combined immunodeficiency:
Inheritance autosomal recessive inheritance
Clinical modifier death in childhood


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 200900
MESH via Orphanet 44 C536020
ICD10 via Orphanet 33 D82.2
UMLS via Orphanet 72 C1860168 C2931087
Orphanet 58 ORPHA935
MedGen 41 C1860168

Summaries for Short-Limb Skeletal Dysplasia with Severe Combined...

NIH Rare Diseases : 52 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 : Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency, also known as achondroplasia-severe combined immunodeficiency syndrome, is related to adenosine deaminase deficiency and severe combined immunodeficiency. Affiliated tissues include bone, thymus and pancreas, and related phenotypes are recurrent respiratory infections and abnormality of the metaphysis

More information from OMIM: 200900

Related Diseases for Short-Limb Skeletal Dysplasia with Severe Combined...

Diseases related to Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 adenosine deaminase deficiency 10.2
2 severe combined immunodeficiency 10.2
3 combined t cell and b cell immunodeficiency 10.2

Symptoms & Phenotypes for Short-Limb Skeletal Dysplasia with Severe Combined...

Human phenotypes related to Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
2 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
3 lymphopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001888
4 cellular immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0005374
5 severe combined immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0004430
6 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
7 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004349
8 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
9 agammaglobulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0004432
10 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
11 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
12 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
13 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
14 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
15 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
16 abnormality of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001732
17 white hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0011364
18 long fibula 58 31 occasional (7.5%) Occasional (29-5%) HP:0003085
19 metaphyseal chondrodysplasia 31 HP:0005871
20 abnormality of the thorax 31 HP:0000765
21 hypoplasia of the thymus 31 HP:0000778

Symptoms via clinical synopsis from OMIM:

56
Skeletal:
metaphyseal chondrodysplasia

Immunology:
agammaglobulinemia
thymic hypoplasia

Chest External Features:
harrison grooves

Hematology:
lymphopenia

Growth Height:
short-limb dysplasia

Skeletal Limbs:
long fibulae

Clinical features from OMIM:

200900

Drugs & Therapeutics for Short-Limb Skeletal Dysplasia with Severe Combined...

Search Clinical Trials , NIH Clinical Center for Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency

Genetic Tests for Short-Limb Skeletal Dysplasia with Severe Combined...

Anatomical Context for Short-Limb Skeletal Dysplasia with Severe Combined...

MalaCards organs/tissues related to Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency:

40
Bone, Thymus, Pancreas, T Cells, B Cells

Publications for Short-Limb Skeletal Dysplasia with Severe Combined...

Articles related to Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency:

# Title Authors PMID Year
1
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review. 61 56
1999827 1991
2
Antibody-mediated immunodeficiency in short-limbed dwarfism. 56
4810726 1974
3
Thymic dysplasia associated with dyschondroplasia in an infant. 56
5026207 1972
4
Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia. 56
5809843 1969
5
[Unusual bone changes in thymic alymphoplasia]. 56
5678781 1968
6
Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships. 56
5951879 1966

Variations for Short-Limb Skeletal Dysplasia with Severe Combined...

Expression for Short-Limb Skeletal Dysplasia with Severe Combined...

Search GEO for disease gene expression data for Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency.

Pathways for Short-Limb Skeletal Dysplasia with Severe Combined...

GO Terms for Short-Limb Skeletal Dysplasia with Severe Combined...

Sources for Short-Limb Skeletal Dysplasia with Severe Combined...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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