MCID: SHR096
MIFTS: 20

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

Characteristics:

OMIM:

57
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: 59  
Rare immunological diseases


External Ids:

OMIM 57 200900
Orphanet 59 ORPHA935
MESH via Orphanet 45 C536020
UMLS via Orphanet 74 C2931087 C1860168
ICD10 via Orphanet 34 D82.2
MedGen 42 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. Affiliated tissues include pancreas, thymus and bone, and related phenotypes are inguinal hernia and pectus excavatum

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:

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

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

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
Pancreas, Thymus, Bone

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
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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