MCID: SHR096
MIFTS: 18

Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency

Categories: Blood diseases, Rare diseases, Bone diseases, Immune 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 54 56
Achondroplasia-Severe Combined Immunodeficiency Syndrome 56
Achondroplasia-Swiss Type Agammaglobulinemia Syndrome 56
Immunodeficiency-Short Limb Dwarfism Syndrome 56
Short Limb Skeletal Dysplasia with Scid 56
Achondroplasia-Scid Syndrome 56

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
early lethal


HPO:

32
short-limb skeletal dysplasia with severe combined immunodeficiency:
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 200900
Orphanet 56 ORPHA935
MESH via Orphanet 43 C536020
UMLS via Orphanet 70 C2931087 C1860168
ICD10 via Orphanet 34 D82.2

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

MalaCards based summary : Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency, also known as achondroplasia-severe combined immunodeficiency syndrome, is related to achondroplasia and severe combined immunodeficiency, and has symptoms including recurrent respiratory infections, cognitive impairment and anemia. Affiliated tissues include pancreas, bone 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:

id Related Disease Score Top Affiliating Genes
1 achondroplasia and severe combined immunodeficiency 11.3

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

Symptoms via clinical synopsis from OMIM:

54

Hematology:
lymphopenia

Skeletal:
metaphyseal chondrodysplasia

Skeletal- Limbs:
long fibulae

Immunology:
thymic hypoplasia
agammaglobulinemia

Growth- Height:
short-limb dysplasia


Clinical features from OMIM:

200900

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

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 56 32 hallmark (90%) Very frequent (99-80%) HP:0002205
2 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
3 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
4 lymphopenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001888
5 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
6 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
7 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
8 fine hair 56 32 frequent (33%) Frequent (79-30%) HP:0002213
9 agammaglobulinemia 56 32 frequent (33%) Frequent (79-30%) HP:0004432
10 severe combined immunodeficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0004430
11 cellular immunodeficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0005374
12 aganglionic megacolon 56 32 occasional (7.5%) Occasional (29-5%) HP:0002251
13 biparietal narrowing 56 32 frequent (33%) Frequent (79-30%) HP:0004422
14 white hair 56 32 occasional (7.5%) Occasional (29-5%) HP:0011364
15 reduced bone mineral density 56 32 frequent (33%) Frequent (79-30%) HP:0004349
16 abnormality of the pancreas 56 32 occasional (7.5%) Occasional (29-5%) HP:0001732
17 long fibula 56 32 occasional (7.5%) Occasional (29-5%) HP:0003085
18 metaphyseal chondrodysplasia 32 HP:0005871
19 abnormality of the metaphyses 56 Very frequent (99-80%)
20 abnormality of the thorax 32 HP:0000765
21 hypoplasia of the thymus 32 HP:0000778
22 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

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:

39
Pancreas, Bone, 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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