MCID: SKL031
MIFTS: 18

Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome

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

Aliases & Classifications for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

MalaCards integrated aliases for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome:

Name: Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 58
Neuro-Immuno-Skeletal Dysplasia Syndrome Due to Extl3 Deficiency 58
Extl3-Related Neuro-Immuno-Skeletal Dysplasia Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

MalaCards based summary : Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome, is also known as neuro-immuno-skeletal dysplasia syndrome due to extl3 deficiency. An important gene associated with Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome is EXTL3 (Exostosin Like Glycosyltransferase 3). Affiliated tissues include t cells, eye and kidney, and related phenotypes are severe platyspondyly and intellectual disability

Related Diseases for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Symptoms & Phenotypes for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Human phenotypes related to Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome:

58 31 (show top 50) (show all 100)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 severe platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004565
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
4 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
7 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
8 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
9 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
10 abnormality of the cervical spine 58 31 frequent (33%) Frequent (79-30%) HP:0003319
11 abnormality of the ilium 58 31 frequent (33%) Frequent (79-30%) HP:0002867
12 hypoplasia of the odontoid process 58 31 frequent (33%) Frequent (79-30%) HP:0003311
13 disproportionate short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003498
14 short phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009803
15 broad metacarpals 58 31 frequent (33%) Frequent (79-30%) HP:0001230
16 hypereosinophilia 58 31 frequent (33%) Frequent (79-30%) HP:0032061
17 acetabular dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008807
18 delayed ability to sit 58 31 frequent (33%) Frequent (79-30%) HP:0025336
19 decreased lymphocyte proliferation in response to mitogen 58 31 frequent (33%) Frequent (79-30%) HP:0031381
20 broad phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009768
21 narrow greater sciatic notch 31 frequent (33%) HP:0003375
22 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
23 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
24 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
25 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
26 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
27 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
28 gingival overgrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000212
29 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
30 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
31 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
32 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
33 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
34 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
35 elbow flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0002987
36 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
37 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
38 open mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000194
39 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
40 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
41 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
42 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
43 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
44 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
45 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
46 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
47 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
48 recurrent pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006532
49 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
50 capillary hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005306

Drugs & Therapeutics for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Search Clinical Trials , NIH Clinical Center for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome

Genetic Tests for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Anatomical Context for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

MalaCards organs/tissues related to Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome:

40
T Cells, Eye, Kidney, Bone

Publications for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Variations for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Expression for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Search GEO for disease gene expression data for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome.

Pathways for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

GO Terms for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

Sources for Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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