MCID: SHR067
MIFTS: 35

Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Categories: Genetic 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 75
Asphyxiating Thoracic Dystrophy 2 57 12 75 29 13 6 15 73
Srtd2 57 12 75
Atd2 57 12 75
Dysplasia, Short-Rib Thoracic, Type 2, with/without Polydactyly ) 40
Asphyxiating Thoracic Dystrophy 2; Atd2 57
Jeune Asphyxiating Thoracic Dystrophy 75
Jeune Syndrome 2 75
Jatd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 57 611263
Disease Ontology 12 DOID:0110086
ICD10 33 Q77.2
MedGen 42 C1970005
MeSH 44 D012779
UMLS 73 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), and among its related pathways/superpathways are Toll Comparative Pathway and G-protein signaling Ras family GTPases in kinase cascades (scheme). Affiliated tissues include brain, kidney 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 : 75 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 related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 1 with or without polydactyly 27.9 CEBPB FOSB IFT80 SMOX
2 joubert syndrome with jeune asphyxiating thoracic dystrophy 11.0
3 short-rib thoracic dysplasia 3 with or without polydactyly 10.9
4 short-rib thoracic dysplasia 4 with or without polydactyly 10.9
5 short-rib thoracic dysplasia 5 with or without polydactyly 10.9

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

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

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

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

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

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

(show all 12)
# Title Authors Year
1
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. ( 27021811 )
2016
2
New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. ( 26874042 )
2016
3
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. ( 26044572 )
2015
4
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy. ( 24360808 )
2014
5
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. ( 25361962 )
2014
6
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. ( 24183451 )
2013
7
The Nuss technique for Jeune asphyxiating thoracic dystrophy repair in siblings. ( 20606585 )
2010
8
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. ( 20503315 )
2010
9
The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. ( 20207966 )
2010
10
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. ( 17468754 )
2007
11
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. ( 10710229 )
2000
12
The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. ( 4470905 )
1974

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

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

75
# Symbol AA change Variation ID SNP ID
1 IFT80 p.His105Gln VAR_035006 rs137853115
2 IFT80 p.Ala701Pro VAR_035009 rs137853116

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT80 NM_020800.2(IFT80): c.315C> G (p.His105Gln) single nucleotide variant Pathogenic rs137853115 GRCh37 Chromosome 3, 160095273: 160095273
2 IFT80 NM_020800.2(IFT80): c.315C> G (p.His105Gln) single nucleotide variant Pathogenic rs137853115 GRCh38 Chromosome 3, 160377485: 160377485
3 IFT80 NM_020800.2(IFT80): c.2101G> C (p.Ala701Pro) single nucleotide variant Pathogenic rs137853116 GRCh37 Chromosome 3, 159986323: 159986323
4 IFT80 NM_020800.2(IFT80): c.2101G> C (p.Ala701Pro) single nucleotide variant Pathogenic rs137853116 GRCh38 Chromosome 3, 160268535: 160268535
5 IFT80 NM_020800.2(IFT80): c.721G> A (p.Gly241Arg) single nucleotide variant Pathogenic rs138004478 GRCh38 Chromosome 3, 160356069: 160356069
6 IFT80 NM_020800.2(IFT80): c.721G> A (p.Gly241Arg) single nucleotide variant Pathogenic rs138004478 GRCh37 Chromosome 3, 160073857: 160073857
7 IFT80 NM_020800.2(IFT80): c.869A> G (p.Asn290Ser) single nucleotide variant Likely pathogenic rs138081429 GRCh37 Chromosome 3, 160037636: 160037636
8 IFT80 NM_020800.2(IFT80): c.869A> G (p.Asn290Ser) single nucleotide variant Likely pathogenic rs138081429 GRCh38 Chromosome 3, 160319848: 160319848
9 IFT80 NM_020800.2(IFT80): c.1646_1648delTAT (p.Leu549del) deletion Likely pathogenic rs431905497 GRCh37 Chromosome 3, 159998471: 159998473
10 IFT80 NM_020800.2(IFT80): c.1646_1648delTAT (p.Leu549del) deletion Likely pathogenic rs431905497 GRCh38 Chromosome 3, 160280683: 160280685

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

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 neuron differentiation GO:0030182 9.26 CEBPB HSPA5
2 response to endoplasmic reticulum stress GO:0034976 9.16 CEBPB HSPA5
3 cellular response to calcium ion GO:0071277 8.96 FOSB HSPA5
4 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 8.62 CEBPB HSPA5

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

3 CDC
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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
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42 MedGen
44 MeSH
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49 NCI
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54 NINDS
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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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