SRTD2
MCID: SHR067
MIFTS: 35

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 57 12 74
Asphyxiating Thoracic Dystrophy 2 57 12 74 29 13 6 15 72
Srtd2 57 12 74
Atd2 57 12 74
Dysplasia, Short-Rib Thoracic, Type 2, with/without Polydactyly 40
Asphyxiating Thoracic Dystrophy 2; Atd2 57
Jeune Asphyxiating Thoracic Dystrophy 74
Jeune Syndrome 2 74
Jatd 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
short-rib thoracic dysplasia 2 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110086
MeSH 44 D012779
ICD10 33 Q77.2
MedGen 42 C1970005
UMLS 72 C1970005

Summaries for Short-Rib Thoracic Dysplasia 2 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, 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 1 with or without polydactyly and joubert syndrome with jeune asphyxiating thoracic dystrophy. An important gene associated with Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly is IFT80 (Intraflagellar Transport 80). Affiliated tissues include bone, brain and liver, and related phenotypes are narrow chest and short foot

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

UniProtKB/Swiss-Prot : 74 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 all 48)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 1 with or without polydactyly 29.3 SMOX IFT80 FOSB CEBPB
2 joubert syndrome with jeune asphyxiating thoracic dystrophy 11.3
3 short-rib thoracic dysplasia 3 with or without polydactyly 11.2
4 short-rib thoracic dysplasia 4 with or without polydactyly 11.2
5 short-rib thoracic dysplasia 5 with or without polydactyly 11.2
6 asphyxiating thoracic dystrophy 10.8
7 polydactyly 10.6
8 joubert syndrome 1 10.5
9 short-rib thoracic dysplasia 17 with or without polydactyly 10.5
10 short-rib thoracic dysplasia 10 with or without polydactyly 10.4
11 retinal degeneration 10.4
12 ciliopathy 10.4
13 odontochondrodysplasia 10.3
14 cranioectodermal dysplasia 1 10.3
15 nephronophthisis 1 10.3
16 short-rib thoracic dysplasia 6 with or without polydactyly 10.3
17 pyle disease 10.3
18 short-rib thoracic dysplasia 9 with or without polydactyly 10.3
19 retinitis pigmentosa 10.3
20 short-rib thoracic dysplasia 12 10.3
21 orofaciodigital syndrome i 10.3
22 short-rib thoracic dysplasia 7 with or without polydactyly 10.3
23 short-rib thoracic dysplasia 8 with or without polydactyly 10.3
24 short-rib thoracic dysplasia 11 with or without polydactyly 10.3
25 joubert syndrome 21 10.3
26 bardet-biedl syndrome 4 10.3
27 bardet-biedl syndrome 8 10.3
28 short-rib thoracic dysplasia 13 with or without polydactyly 10.3
29 short-rib thoracic dysplasia 14 with polydactyly 10.3
30 short-rib thoracic dysplasia 15 with polydactyly 10.3
31 short-rib thoracic dysplasia 16 with or without polydactyly 10.3
32 short-rib thoracic dysplasia 18 with polydactyly 10.3
33 short-rib thoracic dysplasia 19 with or without polydactyly 10.3
34 short-rib thoracic dysplasia 20 with polydactyly 10.3
35 brachydactyly 10.3
36 autosomal recessive disease 10.3
37 neuroretinitis 10.3
38 hydrocephalus 10.3
39 respiratory failure 10.3
40 tuberous sclerosis 10.3
41 bardet-biedl syndrome 10.3
42 retinitis 10.3
43 retinal disease 10.3
44 fundus dystrophy 10.3
45 zellweger syndrome 10.3
46 congenital hydrocephalus 10.3
47 short rib-polydactyly syndrome 10.3
48 inherited retinal disorder 10.3

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 narrow chest 32 HP:0000774
2 short foot 32 HP:0001773
3 rhizomelia 32 HP:0008905
4 brachydactyly 32 HP:0001156
5 short metacarpal 32 HP:0010049
6 postaxial hand polydactyly 32 HP:0001162
7 broad palm 32 HP:0001169
8 mesomelia 32 HP:0003027

Symptoms via clinical synopsis from OMIM:

57
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after ionizing radiation GR00232-A-2 8.62 CEBPB RAD52

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:

41
Bone, Brain, Liver, Heart, Pancreas, Kidney, Eye

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. 8 71
19648123 2011
2
Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. 8 71
19610081 2009
3
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. 8 71
17468754 2007
4
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 8
24183451 2013
5
Ciliary disorder of the skeleton. 8
22791528 2012
6
Genetic controls of DNA damage avoidance in response to acetaldehyde in fission yeast. 38
27687866 2017
7
Decrease in acrolein toxicity based on the decline of polyamine oxidases. 38
27590852 2016
8
Molecular analysis of "de novo" purine biosynthesis in solanaceous species and in Arabidopsis thaliana. 38
14977588 2004
9
[Can 3D volumetric analysis of the fetal upper arm and thigh improve conventional 2D weight estimates?]. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IFT80 NM_020800.3(IFT80): c.315C> G (p.His105Gln) single nucleotide variant Pathogenic rs137853115 3:160095273-160095273 3:160377485-160377485
2 IFT80 NM_020800.3(IFT80): c.2101G> C (p.Ala701Pro) single nucleotide variant Pathogenic rs137853116 3:159986323-159986323 3:160268535-160268535
3 IFT80 NM_020800.3(IFT80): c.721G> A (p.Gly241Arg) single nucleotide variant Pathogenic rs138004478 3:160073857-160073857 3:160356069-160356069
4 IFT80 NM_020800.3(IFT80): c.869A> G (p.Asn290Ser) single nucleotide variant Likely pathogenic rs138081429 3:160037636-160037636 3:160319848-160319848
5 IFT80 NM_020800.3(IFT80): c.1646_1648del (p.Leu549del) deletion Likely pathogenic rs431905497 3:159998471-159998473 3:160280683-160280685
6 IFT80 NM_020800.3(IFT80): c.2158C> A (p.Gln720Lys) single nucleotide variant Uncertain significance rs201820395 3:159986266-159986266 3:160268478-160268478
7 IFT80 NM_020800.3(IFT80): c.710G> A (p.Trp237Ter) single nucleotide variant Uncertain significance rs201858128 3:160073868-160073868 3:160356080-160356080
8 IFT80 NM_020800.3(IFT80): c.1381-1G> T single nucleotide variant Uncertain significance 3:160000402-160000402 3:160282614-160282614
9 IFT80 NM_020800.3(IFT80): c.38-1C> G single nucleotide variant Uncertain significance 3:160099513-160099513 3:160381725-160381725
10 IFT80 NM_020800.3(IFT80): c.1883G> A (p.Arg628Gln) single nucleotide variant Uncertain significance rs150370681 3:159995412-159995412 3:160277624-160277624

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

74
# 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

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

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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