SRTD2
MCID: SHR067
MIFTS: 41

Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly (SRTD2)

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 56 12 73
Asphyxiating Thoracic Dystrophy 2 56 12 73 29 13 6 15 71
Srtd2 56 12 73
Atd2 56 12 73
Dysplasia, Short-Rib Thoracic, Type 2, with/without Polydactyly 39
Asphyxiating Thoracic Dystrophy 2; Atd2 56
Jeune Asphyxiating Thoracic Dystrophy 73
Jeune Syndrome 2 73
Jatd 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
short-rib thoracic dysplasia 2 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110086
OMIM 56 611263
OMIM Phenotypic Series 56 PS208500
MeSH 43 D012779
ICD10 32 Q77.2
MedGen 41 C1970005
UMLS 71 C1970005

Summaries for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

OMIM : 56 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, see SRTD1 (208500). (611263)

MalaCards based summary : Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly, also known as asphyxiating thoracic dystrophy 2, is related to short-rib thoracic dysplasia 5 with or without polydactyly and short-rib thoracic dysplasia 3 with or without polydactyly. An important gene associated with Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly is IFT80 (Intraflagellar Transport 80), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include bone, eye and kidney, and related phenotypes are brachydactyly and short metacarpal

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the IFT80 gene on chromosome 3q25.

UniProtKB/Swiss-Prot : 73 Short-rib thoracic dysplasia 2 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 2 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 2 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 5 with or without polydactyly 31.8 WDR19 TTC21B
2 short-rib thoracic dysplasia 3 with or without polydactyly 31.0 WDR19 TTC21B IFT80 DYNC2H1
3 polydactyly 30.6 TTC21B IFT80 DYNC2H1
4 short-rib thoracic dysplasia 1 with or without polydactyly 30.6 WDR19 TTC21B SMOX IFT80 DYNC2H1
5 asphyxiating thoracic dystrophy 30.5 WDR19 TTC21B IFT80 DYNC2H1
6 short-rib thoracic dysplasia 7 with or without polydactyly 30.4 WDR19 TTC21B
7 ciliopathy 30.4 WDR19 TTC21B
8 short-rib thoracic dysplasia 9 with or without polydactyly 30.3 WDR19 TTC21B
9 short-rib thoracic dysplasia 12 30.2 WDR19 TTC21B IFT80
10 joubert syndrome 1 30.0 WDR19 TTC21B IFT80 DYNC2H1
11 short rib-polydactyly syndrome 29.9 TTC21B DYNC2H1
12 short-rib thoracic dysplasia 6 with or without polydactyly 29.7 WDR19 TTC21B IFT80 DYNC2H1
13 cranioectodermal dysplasia 1 29.7 WDR19 TTC21B IFT80 DYNC2H1
14 fundus dystrophy 29.6 WDR19 TTC21B IFT80 DYNC2H1
15 bardet-biedl syndrome 29.6 WDR19 TTC21B IFT80 DYNC2H1
16 joubert syndrome with jeune asphyxiating thoracic dystrophy 11.3
17 short-rib thoracic dysplasia 4 with or without polydactyly 11.2
18 short-rib thoracic dysplasia 17 with or without polydactyly 10.5
19 short-rib thoracic dysplasia 10 with or without polydactyly 10.4
20 retinal degeneration 10.4
21 odontochondrodysplasia 10.3
22 nephronophthisis 1 10.3
23 pyle disease 10.3
24 retinitis pigmentosa 10.3
25 orofaciodigital syndrome i 10.3
26 short-rib thoracic dysplasia 8 with or without polydactyly 10.3
27 short-rib thoracic dysplasia 11 with or without polydactyly 10.3
28 joubert syndrome 21 10.3
29 bardet-biedl syndrome 4 10.3
30 bardet-biedl syndrome 8 10.3
31 short-rib thoracic dysplasia 13 with or without polydactyly 10.3
32 short-rib thoracic dysplasia 14 with polydactyly 10.3
33 short-rib thoracic dysplasia 15 with polydactyly 10.3
34 short-rib thoracic dysplasia 16 with or without polydactyly 10.3
35 short-rib thoracic dysplasia 18 with polydactyly 10.3
36 short-rib thoracic dysplasia 19 with or without polydactyly 10.3
37 short-rib thoracic dysplasia 20 with polydactyly 10.3
38 brachydactyly 10.3
39 autosomal recessive disease 10.3
40 neuroretinitis 10.3
41 hydrocephalus 10.3
42 respiratory failure 10.3
43 tuberous sclerosis 10.3
44 retinitis 10.3
45 orofaciodigital syndrome 10.3
46 retinal disease 10.3
47 zellweger syndrome 10.3
48 hypotonia 10.3
49 inherited retinal disorder 10.3
50 nephronophthisis 13 9.9 WDR19 TTC21B

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 brachydactyly 31 HP:0001156
2 short metacarpal 31 HP:0010049
3 narrow chest 31 HP:0000774
4 short foot 31 HP:0001773
5 rhizomelia 31 HP:0008905
6 postaxial hand polydactyly 31 HP:0001162
7 broad palm 31 HP:0001169
8 mesomelia 31 HP:0003027

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
brachydactyly
short metacarpals
polydactyly, postaxial
broad hands

Chest External Features:
narrow thorax

Skeletal Limbs:
rhizomelic limb shortening
mesomelic limb shortening
trident acetabular roofs
bowed femora
short femora

Skeletal Feet:
small feet
polydactyly, postaxial

Clinical features from OMIM:

611263

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.35 DYNC2H1 IFT80 TTC21B WDR19 ZMYND11
2 limbs/digits/tail MP:0005371 9.02 BRD7 DYNC2H1 IFT80 TTC21B WDR19

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Asphyxiating Thoracic Dystrophy 2 29 IFT80

Anatomical Context for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

40
Bone, Eye, Kidney, Liver, Brain, Heart, Pancreas

Publications for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

# Title Authors PMID Year
1
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. 56 6
19648123 2011
2
Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. 56 6
19610081 2009
3
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. 56 6
17468754 2007
4
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 56
24183451 2013
5
Ciliary disorder of the skeleton. 56
22791528 2012
6
ATAD2 predicts poor outcomes in patients with ovarian cancer and is a marker of proliferation. 61
31746426 2020
7
Genetic controls of DNA damage avoidance in response to acetaldehyde in fission yeast. 61
27687866 2017
8
Decrease in acrolein toxicity based on the decline of polyamine oxidases. 61
27590852 2016
9
Molecular analysis of "de novo" purine biosynthesis in solanaceous species and in Arabidopsis thaliana. 61
14977588 2004
10
[Can 3D volumetric analysis of the fetal upper arm and thigh improve conventional 2D weight estimates?]. 61
10226345 1999

Variations for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFT80 NM_020800.3(IFT80):c.315C>G (p.His105Gln)SNV Pathogenic 989 rs137853115 3:160095273-160095273 3:160377485-160377485
2 IFT80 NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro)SNV Pathogenic 991 rs137853116 3:159986323-159986323 3:160268535-160268535
3 IFT80 NM_020800.3(IFT80):c.721G>A (p.Gly241Arg)SNV Pathogenic 100665 rs138004478 3:160073857-160073857 3:160356069-160356069
4 IFT80 NM_020800.3(IFT80):c.1646_1648del (p.Leu549del)deletion Likely pathogenic 429428 rs431905497 3:159998471-159998473 3:160280683-160280685
5 IFT80 NM_020800.3(IFT80):c.869A>G (p.Asn290Ser)SNV Likely pathogenic 202194 rs138081429 3:160037636-160037636 3:160319848-160319848
6 IFT80 NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys)SNV Conflicting interpretations of pathogenicity 501586 rs201820395 3:159986266-159986266 3:160268478-160268478
7 IFT80 NM_020800.3(IFT80):c.1381-1G>TSNV Uncertain significance 632410 rs1559917932 3:160000402-160000402 3:160282614-160282614
8 IFT80 NM_020800.3(IFT80):c.38-1C>GSNV Uncertain significance 632411 rs779785603 3:160099513-160099513 3:160381725-160381725
9 IFT80 NM_020800.3(IFT80):c.710G>A (p.Trp237Ter)SNV Uncertain significance 343976 rs201858128 3:160073868-160073868 3:160356080-160356080
10 IFT80 NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln)SNV Uncertain significance 194779 rs150370681 3:159995412-159995412 3:160277624-160277624

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

73
# Symbol AA change Variation ID SNP ID
1 IFT80 p.His105Gln VAR_035006 rs137853115
2 IFT80 p.Ala701Pro VAR_035009 rs137853116

Expression for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 WDR19 TTC21B IFT80 DYNC2H1
2
Show member pathways
11.87 WDR19 TTC21B DYNC2H1
3 10.54 WDR19 TTC21B IFT80 DYNC2H1

GO Terms for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.56 WDR19 TTC21B IFT80 DYNC2H1
2 cilium GO:0005929 9.46 WDR19 TTC21B IFT80 DYNC2H1
3 intraciliary transport particle A GO:0030991 8.96 WDR19 TTC21B
4 ciliary tip GO:0097542 8.92 WDR19 TTC21B IFT80 DYNC2H1

Biological processes related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.5 WDR19 IFT80 DYNC2H1
2 embryonic limb morphogenesis GO:0030326 9.4 WDR19 DYNC2H1
3 non-motile cilium assembly GO:1905515 9.37 IFT80 DYNC2H1
4 smoothened signaling pathway GO:0007224 9.33 WDR19 TTC21B IFT80
5 protein localization to cilium GO:0061512 9.26 TTC21B DYNC2H1
6 intraciliary retrograde transport GO:0035721 9.13 WDR19 TTC21B DYNC2H1
7 intraciliary transport involved in cilium assembly GO:0035735 8.92 WDR19 TTC21B IFT80 DYNC2H1

Sources for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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