MCID: SHR096
MIFTS: 22

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 57 53 59
Achondroplasia-Severe Combined Immunodeficiency Syndrome 53 59
Achondroplasia-Swiss Type Agammaglobulinemia Syndrome 53 59
Immunodeficiency-Short Limb Dwarfism Syndrome 53 59
Short Limb Skeletal Dysplasia with Scid 53 59
Achondroplasia-Scid Syndrome 53 59
Slsd with Scid 57 53
Achondroplasia, So-Called, and Severe Combined Immunodeficiency 57
Achondroplasia So-Called and Severe Combined Immunodeficiency 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
early lethal


HPO:

32
short-limb skeletal dysplasia with severe combined immunodeficiency:
Inheritance autosomal recessive inheritance
Clinical modifier death in childhood


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 200900
MESH via Orphanet 45 C536020
ICD10 via Orphanet 34 D82.2
UMLS via Orphanet 73 C1860168 C2931087
Orphanet 59 ORPHA935
MedGen 42 C1860168

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

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 : 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, pancreas and thymus, 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:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
2 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
3 lymphopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001888
4 cellular immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0005374
5 severe combined immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0004430
6 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
7 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349
8 fine hair 59 32 frequent (33%) Frequent (79-30%) HP:0002213
9 agammaglobulinemia 59 32 frequent (33%) Frequent (79-30%) HP:0004432
10 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
11 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
12 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
13 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
14 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
15 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
16 abnormality of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001732
17 white hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0011364
18 long fibula 59 32 occasional (7.5%) Occasional (29-5%) HP:0003085
19 abnormality of the thorax 32 HP:0000765
20 metaphyseal chondrodysplasia 32 HP:0005871
21 hypoplasia of the thymus 32 HP:0000778

Symptoms via clinical synopsis from OMIM:

57
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:

41
Bone, Pancreas, Thymus

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. 38 8
1999827 1991
2
Antibody-mediated immunodeficiency in short-limbed dwarfism. 8
4810726 1974
3
Thymic dysplasia associated with dyschondroplasia in an infant. 8
5026207 1972
4
Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia. 8
5809843 1969
5
[Unusual bone changes in thymic alymphoplasia]. 8
5678781 1968
6
Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships. 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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