SRTD17
MCID: SHR104
MIFTS: 30

Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly (SRTD17)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 57 72 29 6
Srtd17 57 72
Ciliopathies with Major Skeletal Involvement 58
Short Rib Dysplasia 58
Srp 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
evidence of reduced penetrance in 1 family


HPO:

31
short-rib thoracic dysplasia 17 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 617405
OMIM Phenotypic Series 57 PS208500
MeSH 44 D012779
ICD10 via Orphanet 33 Q77.2
UMLS via Orphanet 71 C0432195
Orphanet 58 ORPHA93426

Summaries for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

OMIM® : 57 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500). (617405) (Updated 20-May-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly, also known as srtd17, is related to necrotizing autoimmune myopathy and thoracolaryngopelvic dysplasia. An important gene associated with Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly is DYNLT2B (Dynein Light Chain Tctex-Type 2B). Affiliated tissues include eye, pancreas and lung, and related phenotypes are polydactyly and short stature

UniProtKB/Swiss-Prot : 72 Short-rib thoracic dysplasia 17 with or without polydactyly: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.

Related Diseases for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Diseases in the Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly family:

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 necrotizing autoimmune myopathy 11.4
2 thoracolaryngopelvic dysplasia 11.1
3 short rib-polydactyly syndrome 11.0
4 myopathy 10.6
5 myositis 10.4
6 helix syndrome 10.4
7 polymyositis 10.3
8 periodontitis 10.3
9 dysphagia 10.1
10 dermatomyositis 10.1
11 periodontitis, chronic 10.0
12 polydactyly 10.0
13 presbyopia 10.0
14 mohr syndrome 9.9
15 type 2 diabetes mellitus 9.9
16 inclusion body myositis 9.9
17 schistosoma mansoni infection, susceptibility/ 9.9
18 lung cancer 9.9
19 meningioma, familial 9.9
20 rapidly involuting congenital hemangioma 9.9
21 schistosomiasis 9.9
22 glioblastoma 9.9
23 adenoma 9.9
24 diabetes mellitus 9.9
25 muscular dystrophy 9.9
26 atrial standstill 1 9.8
27 autoimmune disease 9.8
28 multiple sclerosis 9.8
29 vitiligo-associated multiple autoimmune disease susceptibility 6 9.8
30 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
31 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
32 short-rib thoracic dysplasia 6 with or without polydactyly 9.8
33 kearns-sayre syndrome 9.8
34 yemenite deaf-blind hypopigmentation syndrome 9.8
35 encephalopathy, familial, with neuroserpin inclusion bodies 9.8
36 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8
37 leukemia, chronic myeloid 9.8
38 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
39 short-rib thoracic dysplasia 3 with or without polydactyly 9.8
40 short-rib thoracic dysplasia 10 with or without polydactyly 9.8
41 pulmonary hypertension 9.8
42 cryptogenic organizing pneumonia 9.8
43 exanthem 9.8
44 isolated elevated serum creatine phosphokinase levels 9.8
45 tonsillitis 9.8
46 respiratory failure 9.8
47 hemopericardium 9.8
48 pericardial effusion 9.8
49 guillain-barre syndrome 9.8
50 miller fisher syndrome 9.8

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly:

31
# Description HPO Frequency HPO Source Accession
1 polydactyly 31 occasional (7.5%) HP:0010442
2 short stature 31 HP:0004322
3 brachydactyly 31 HP:0001156
4 narrow chest 31 HP:0000774
5 lateral clavicle hook 31 HP:0000895

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Chest External Features:
narrow thorax

Skeletal Pelvis:
trident acetabulum with spurs

Skeletal Hands:
brachydactyly
polydactyly (in some patients)

Skeletal Feet:
polydactyly (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
short horizontal ribs

Clinical features from OMIM®:

617405 (Updated 20-May-2021)

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 29 DYNLT2B

Anatomical Context for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly:

40
Eye, Pancreas, Lung, Myeloid, Brain, Heart, Kidney

Publications for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly:

# Title Authors PMID Year
1
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. 57
26044572 2015
2
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
3
Ciliary disorder of the skeleton. 57
22791528 2012
4
Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography. 61
21159031 2011
5
Spectrum of severe skeletal dysplasias in North India. 61
18057679 2007
6
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. 61
10951528 2000
7
Prenatal sonographic diagnosis of ellis-van creveld syndrome. 61
10602104 2000
8
Intractable apneic spells due to hypoplasia of the atlas in a patient with unclassifiable short-rib dysplasia. 61
9508250 1998
9
Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum. 61
8599362 1995

Variations for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYNLT2B NM_152773.5(DYNLT2B):c.262C>T (p.Arg88Ter) SNV Pathogenic 417792 rs771373235 GRCh37: 3:196033869-196033869
GRCh38: 3:196306998-196306998
2 TM4SF19-DYNLT2B , DYNLT2B NM_152773.5(DYNLT2B):c.100delinsCT (p.Val34fs) Indel Pathogenic 417793 rs1060505043 GRCh37: 3:196044924-196044924
GRCh38: 3:196318053-196318053
3 TM4SF19-DYNLT2B , DYNLT2B NM_152773.5(DYNLT2B):c.113+2C>G SNV Pathogenic 417791 rs1056574154 GRCh37: 3:196044909-196044909
GRCh38: 3:196318038-196318038
4 TM4SF19-DYNLT2B , DYNLT2B NM_152773.5(DYNLT2B):c.114-1G>A SNV Pathogenic 732953 rs149665976 GRCh37: 3:196043103-196043103
GRCh38: 3:196316232-196316232
5 DYNLT2B GRCh37/hg19 3q29(chr3:196033814-196033883) copy number loss Likely pathogenic 813328 GRCh37: 3:196033814-196033883
GRCh38:

Expression for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Sources for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

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
37 LifeMap
39 LOVD
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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