MCID: SHR066
MIFTS: 41

Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Categories: Genetic diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 57 12 75 73
Asphyxiating Thoracic Dystrophy 4 57 12 75 29 13 6 15
Srtd4 57 12 75
Atd4 57 12 75
Dysplasia, Short-Rib Thoracic, Type 4, with/without Polydactyly ) 40
Asphyxiating Thoracic Dystrophy 4; Atd4 57
Jeune Asphyxiating Thoracic Dystrophy 75
Jeune Syndrome 4 75
Jatd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on 3 unrelated patients, including an 8-year-old child and 1 adult (last curated june 2018)
limited clinical details provided by the authors


HPO:

32
short-rib thoracic dysplasia 4 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613819
Disease Ontology 12 DOID:0110088
ICD10 33 Q77.2
MedGen 42 C3151185
MeSH 44 D012779
UMLS 73 C3151185

Summaries for Short-Rib Thoracic Dysplasia 4 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). (613819)

MalaCards based summary : Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly, also known as asphyxiating thoracic dystrophy 4, is related to joubert syndrome with jeune asphyxiating thoracic dystrophy and short-rib thoracic dysplasia 1 with or without polydactyly. An important gene associated with Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly is TTC21B (Tetratricopeptide Repeat Domain 21B), and among its related pathways/superpathways are Apoptosis Pathway and DNA Damage Response. Affiliated tissues include bone, liver and pancreas, and related phenotypes are retinal degeneration and short ribs

Disease Ontology : 12 An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.

UniProtKB/Swiss-Prot : 75 Short-rib thoracic dysplasia 4 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 4 with or Without Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome with jeune asphyxiating thoracic dystrophy 11.0
2 short-rib thoracic dysplasia 1 with or without polydactyly 10.9
3 short-rib thoracic dysplasia 2 with or without polydactyly 10.9
4 short-rib thoracic dysplasia 3 with or without polydactyly 10.9
5 short-rib thoracic dysplasia 5 with or without polydactyly 10.9
6 pharynx cancer 9.8 CASP3 TP53
7 anaplastic thyroid cancer 9.8 CASP3 TP53
8 peripheral nervous system neoplasm 9.8 CASP3 TP53
9 autonomic nervous system neoplasm 9.8 CASP3 TP53
10 male reproductive organ cancer 9.8 CASP3 TP53
11 oral cancer 9.8 CASP3 TP53
12 helicobacter pylori infection 9.8 CASP3 TP53
13 female reproductive organ cancer 9.8 CASP3 TP53
14 nervous system cancer 9.7 CASP3 TP53
15 respiratory system cancer 9.7 CASP3 TP53
16 cell type cancer 9.7 CASP3 TP53
17 gastrointestinal system cancer 9.7 CASP3 TP53
18 hepatoblastoma 9.7 CASP3 TP53
19 tongue squamous cell carcinoma 9.7 CASP3 TP53
20 bladder urothelial carcinoma 9.7 CASP3 TP53
21 skin melanoma 9.7 CASP3 TP53
22 mantle cell lymphoma 9.6 CASP3 TP53
23 wilms tumor 1 9.6 CASP3 TP53
24 b-cell lymphomas 9.6 CASP3 TP53
25 adamantinoma of long bones 9.6 CASP3 TP53
26 myeloma, multiple 9.6 CASP3 TP53
27 brain cancer 9.5 CASP3 TP53
28 lymphoma, non-hodgkin, familial 9.5 CASP3 TP53
29 hematologic cancer 9.4 CASP3 TP53
30 lung cancer susceptibility 3 9.3 CASP3 TP53
31 gastric adenocarcinoma 9.2 CASP3 TP53
32 huntington disease 9.0 CASP3 TP53

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature (in 1 patient)

Abdomen Liver:
hepatic cysts (in 1 patient)

Skeletal Spine:
scoliosis (in 1 patient)

Skeletal Hands:
brachydactyly
polydactyly, unilateral

Chest External Features:
narrow chest

Genitourinary Kidneys:
end-stage renal disease

Skeletal Limbs:
short long bones

Skeletal Feet:
polydactyly, unilateral


Clinical features from OMIM:

613819

Human phenotypes related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

32
# Description HPO Frequency HPO Source Accession
1 retinal degeneration 32 HP:0000546
2 short ribs 32 HP:0000773
3 narrow chest 32 HP:0000774
4 short long bone 32 HP:0003026
5 short stature 32 HP:0004322

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 CASP3 TP53 TTC21B
2 no phenotypic analysis MP:0003012 9.13 CASP3 TP53 TTC21B
3 renal/urinary system MP:0005367 8.8 TP53 TTC21B CASP3

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Asphyxiating Thoracic Dystrophy 4 29 TTC21B

Anatomical Context for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

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

Publications for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 4 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 4 with or Without Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

75
# Symbol AA change Variation ID SNP ID
1 TTC21B p.Thr231Ser VAR_065520 rs149925563
2 TTC21B p.Asp755Tyr VAR_065536
3 TTC21B p.Leu795Pro VAR_065537 rs387907060

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TTC21B NM_024753.4(TTC21B): c.1231C> T (p.Arg411Ter) single nucleotide variant Pathogenic rs185089786 GRCh37 Chromosome 2, 166785800: 166785800
2 TTC21B NM_024753.4(TTC21B): c.1231C> T (p.Arg411Ter) single nucleotide variant Pathogenic rs185089786 GRCh38 Chromosome 2, 165929290: 165929290
3 TTC21B NM_024753.4(TTC21B): c.2384T> C (p.Leu795Pro) single nucleotide variant Pathogenic rs387907060 GRCh37 Chromosome 2, 166767914: 166767914
4 TTC21B NM_024753.4(TTC21B): c.2384T> C (p.Leu795Pro) single nucleotide variant Pathogenic rs387907060 GRCh38 Chromosome 2, 165911404: 165911404

Expression for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 CASP3 TP53
2
Show member pathways
11.95 CASP3 TP53
3 11.87 CASP3 TP53
4 11.86 CASP3 TP53
5
Show member pathways
11.82 CASP3 TP53
6 11.75 CASP3 TP53
7
Show member pathways
11.75 CASP3 TP53
8 11.73 CASP3 TP53
9 11.71 CASP3 TP53
10
Show member pathways
11.69 CASP3 TP53
11
Show member pathways
11.57 CASP3 TP53
12 11.54 CASP3 TP53
13
Show member pathways
11.49 CASP3 TP53
14 11.34 CASP3 TP53
15 11.18 CASP3 TP53
16
Show member pathways
11.08 CASP3 TP53
17 10.89 CASP3 TP53
18 10.82 CASP3 TP53
19 10.66 CASP3 TP53
20 10.29 CASP3 TP53

GO Terms for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.62 TP53 TTC21B

Biological processes related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of neuron apoptotic process GO:0043525 9.16 CASP3 TP53
2 response to antibiotic GO:0046677 8.96 CASP3 TP53
3 response to X-ray GO:0010165 8.62 CASP3 TP53

Molecular functions related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.62 CASP3 TP53

Sources for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

3 CDC
7 CNVD
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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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