MCID: SHR096
MIFTS: 20

Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency

Categories: Immune diseases, Bone diseases, Blood 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 53 55
Achondroplasia, So-Called, and Severe Combined Immunodeficiency 53
Achondroplasia-Severe Combined Immunodeficiency Syndrome 55
Achondroplasia-Swiss Type Agammaglobulinemia Syndrome 55
Immunodeficiency-Short Limb Dwarfism Syndrome 55
Short Limb Skeletal Dysplasia with Scid 55
Achondroplasia-Scid Syndrome 55
Slsd with Scid 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
early lethal


HPO:

31
short-limb skeletal dysplasia with severe combined immunodeficiency:
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare immunological diseases


External Ids:

OMIM 53 200900
Orphanet 55 ORPHA935
MESH via Orphanet 42 C536020
UMLS via Orphanet 70 C2931087 C1860168
ICD10 via Orphanet 33 D82.2
MedGen 39 C1860168

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

MalaCards based summary : Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency, also known as achondroplasia, so-called, and severe combined immunodeficiency, is related to achondroplasia and severe combined immunodeficiency, and has symptoms including pectus excavatum, inguinal hernia and recurrent respiratory infections. Affiliated tissues include bone, pancreas and thymus.

Description 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 achondroplasia and severe combined immunodeficiency 11.5

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

Symptoms via clinical synopsis from OMIM:

53
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

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

55 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
2 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
3 recurrent respiratory infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0002205
4 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
5 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
6 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
7 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
8 biparietal narrowing 55 31 frequent (33%) Frequent (79-30%) HP:0004422
9 reduced bone mineral density 55 31 frequent (33%) Frequent (79-30%) HP:0004349
10 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%) HP:0002251
11 abnormality of the pancreas 55 31 occasional (7.5%) Occasional (29-5%) HP:0001732
12 lymphopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001888
13 cellular immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0005374
14 fine hair 55 31 frequent (33%) Frequent (79-30%) HP:0002213
15 agammaglobulinemia 55 31 frequent (33%) Frequent (79-30%) HP:0004432
16 white hair 55 31 occasional (7.5%) Occasional (29-5%) HP:0011364
17 long fibula 55 31 occasional (7.5%) Occasional (29-5%) HP:0003085
18 severe combined immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0004430
19 abnormality of the thorax 31 HP:0000765
20 metaphyseal chondrodysplasia 31 HP:0005871
21 hypoplasia of the thymus 31 HP:0000778

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:

38
Bone, Pancreas, Thymus

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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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