SRTD5
MCID: SHR068
MIFTS: 51

Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly (SRTD5)

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 57 12 75 73
Asphyxiating Thoracic Dystrophy 5 57 12 75 29 13 6 15
Srtd5 57 12 75
Atd5 57 12 75
Dysplasia, Short-Rib Thoracic, Type 5, with or Without Polydactyly 40
Asphyxiating Thoracic Dystrophy 5; Atd5 57
Jeune Asphyxiating Thoracic Dystrophy 75
Jeune Syndrome 5 75
Jatd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 1 patient (last curated february 2014)


HPO:

32
short-rib thoracic dysplasia 5 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 5 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). (614376)

MalaCards based summary : Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly, also known as asphyxiating thoracic dystrophy 5, 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 5 with or Without Polydactyly is WDR19 (WD Repeat Domain 19), and among its related pathways/superpathways are Transcription_NF-kB signaling pathway and Cellular Transformation by HTLV1. Affiliated tissues include kidney, bone and liver, and related phenotypes are inguinal hernia and cataract

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the WDR19 gene on chromosome 4p14.

UniProtKB/Swiss-Prot : 75 Short-rib thoracic dysplasia 5 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 5 with or Without Polydactyly

Diseases in the Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly family:

Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 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 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 5 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 11.2
2 short-rib thoracic dysplasia 1 with or without polydactyly 11.0
3 short-rib thoracic dysplasia 2 with or without polydactyly 11.0
4 short-rib thoracic dysplasia 3 with or without polydactyly 11.0
5 short-rib thoracic dysplasia 4 with or without polydactyly 11.0
6 asphyxiating thoracic dystrophy 10.8
7 joubert syndrome 1 10.4
8 peroxisome biogenesis disorder 1a 10.3
9 polydactyly 10.3
10 tuberous sclerosis 10.3
11 acromesomelic dysplasia 10.2 NPPC NPR2
12 acromesomelic dysplasia, maroteaux type 10.1 NPPC NPR2
13 cardiac tamponade 10.0 NPPB TNFRSF1A
14 vulvar vestibulitis syndrome 10.0 ESR1 NLRP3
15 familial cold autoinflammatory syndrome 1 10.0 NLRP3 TNFRSF1A
16 muckle-wells syndrome 9.9 NLRP3 TNFRSF1A
17 wells syndrome 9.9 NLRP3 TNFRSF1A
18 conjunctival disease 9.9 NLRP3 TNFRSF1A
19 pericarditis 9.9 NPPB TNFRSF1A
20 chronic gonococcal salpingitis 9.9 TNFRSF1A TNFRSF1B
21 pericoronitis 9.9 TNFRSF1A TNFRSF1B
22 hypertension, essential 9.9 NPPB NPR2 NPR3
23 sciatic neuropathy 9.9 TNFRSF1A TNFRSF1B
24 acute salpingitis 9.9 TNFRSF1A TNFRSF1B
25 post-transplant lymphoproliferative disease 9.9 TNFRSF1A TNFRSF1B
26 chronic salpingitis 9.9 TNFRSF1A TNFRSF1B
27 palindromic rheumatism 9.8 TNFRSF1A TNFRSF1B
28 pericardial effusion 9.8 NLRP3 NPPB TNFRSF1A
29 exanthem 9.8 NLRP3 TNFRSF1B
30 spondyloarthropathy 1 9.8 ANKH TNFRSF1B
31 guillain-barre syndrome 9.8 TNFRSF1A TNFRSF1B
32 periodic fever, familial, autosomal dominant 9.7 NLRP3 TNFRSF1A TNFRSF1B

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly

Symptoms via clinical synopsis from OMIM:

57
Abdomen External Features:
inguinal hernia

Genitourinary Kidneys:
proteinuria
elevated serum creatinine
small kidneys
chronic tubulointerstitial nephritis
diffuse sclerotic glomerulonephritis
more
Head And Neck Eyes:
myopia
cataracts
attenuated arteries
macular abnormalities

Skeletal Feet:
pes valgus
short feet

Skeletal Limbs:
rhizomelic shortening
wide metaphyses
short and broad diaphyses
small dysplastic epiphysis of distal radius
small dysplastic epiphysis of distal tibia

Chest External Features:
narrow thorax

Head And Neck Nose:
wide bridge

Chest Ribs Sternum Clavicles And Scapulae:
abnormal ribs, with horizontal orientation dorsally and diagonal orientation anteriorly

Growth Height:
short stature

Head And Neck Face:
full cheeks

Skeletal Hands:
brachydactyly

Skeletal Pelvis:
short iliac bones
spur-like protrusions at acetabular roof

Head And Neck Mouth:
thin upper lip

Head And Neck Teeth:
yellow discoloration

Respiratory Lung:
restrictive reduced lung volume

Abdomen Liver:
large liver
wide intrahepatic bile ducts


Clinical features from OMIM:

614376

Human phenotypes related to Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 cataract 32 HP:0000518
3 proteinuria 32 HP:0000093
4 full cheeks 32 HP:0000293
5 narrow chest 32 HP:0000774
6 short foot 32 HP:0001773
7 myopia 32 HP:0000545
8 rhizomelia 32 HP:0008905
9 brachydactyly 32 HP:0001156
10 renal hypoplasia 32 HP:0000089
11 elevated serum creatinine 32 HP:0003259
12 thin upper lip vermilion 32 HP:0000219
13 pes valgus 32 HP:0008081
14 stage 5 chronic kidney disease 32 HP:0003774
15 metaphyseal widening 32 HP:0003016
16 short iliac bones 32 HP:0100866
17 glomerulonephritis 32 HP:0000099
18 thoracic dysplasia 32 HP:0006644
19 chronic tubulointerstitial nephritis 32 HP:0004743

GenomeRNAi Phenotypes related to Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.62 GADD45B NLRP3 TNFRSF1A TNFRSF1B WDR19
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 GADD45B NLRP3 TNFRSF1A TNFRSF1B WDR19

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.16 ANKH ESR1 NLRP3 NPPC NPR2 NPR3
2 hematopoietic system MP:0005397 10.1 ANKH ESR1 GADD45B NLRP3 NPR2 NPR3
3 cellular MP:0005384 10.09 ANKH ESR1 GADD45B NLRP3 TNFRSF1A TNFRSF1B
4 craniofacial MP:0005382 10.08 ANKH NPPC NPR2 NPR3 TNFRSF1A TNFRSF1B
5 homeostasis/metabolism MP:0005376 10.08 ANKH ESR1 NLRP3 NPPC NPR2 NPR3
6 immune system MP:0005387 10.06 ANKH ESR1 GADD45B NLRP3 NPR2 NPR3
7 mortality/aging MP:0010768 10.06 ANKH ESR1 NLRP3 NPPC NPR2 NPR3
8 limbs/digits/tail MP:0005371 10.03 ANKH ESR1 NLRP3 NPPC NPR2 NPR3
9 digestive/alimentary MP:0005381 10 ESR1 NLRP3 NPR2 TNFRSF1A TNFRSF1B WDR19
10 nervous system MP:0003631 9.87 ESR1 NLRP3 NPPC NPR2 TNFRSF1A TNFRSF1B
11 muscle MP:0005369 9.85 ANKH ESR1 NPR2 TNFRSF1A TNFRSF1B WDR19
12 renal/urinary system MP:0005367 9.73 ESR1 GADD45B NLRP3 NPR3 TNFRSF1A TNFRSF1B
13 reproductive system MP:0005389 9.7 ANKH ESR1 NLRP3 NPPC NPR2 NPR3
14 respiratory system MP:0005388 9.35 ANKH ESR1 NPR2 TNFRSF1A TNFRSF1B
15 skeleton MP:0005390 9.28 ANKH ESR1 NLRP3 NPPC NPR2 NPR3

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Asphyxiating Thoracic Dystrophy 5 29 WDR19

Anatomical Context for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly:

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

Publications for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 5 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 5 with or Without Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly:

75
# Symbol AA change Variation ID SNP ID
1 WDR19 p.Leu7Pro VAR_067312 rs387906982

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR19 NM_025132.3(WDR19): c.20T> C (p.Leu7Pro) single nucleotide variant Pathogenic rs387906982 GRCh37 Chromosome 4, 39187359: 39187359
2 WDR19 NM_025132.3(WDR19): c.20T> C (p.Leu7Pro) single nucleotide variant Pathogenic rs387906982 GRCh38 Chromosome 4, 39185739: 39185739
3 WDR19 NM_025132.3(WDR19): c.3533G> A (p.Arg1178Gln) single nucleotide variant Pathogenic/Likely pathogenic rs79436363 GRCh37 Chromosome 4, 39274649: 39274649
4 WDR19 NM_025132.3(WDR19): c.3533G> A (p.Arg1178Gln) single nucleotide variant Pathogenic/Likely pathogenic rs79436363 GRCh38 Chromosome 4, 39273029: 39273029
5 WDR19 NM_025132.3(WDR19): c.2792A> C (p.Tyr931Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187546086 GRCh37 Chromosome 4, 39254828: 39254828
6 WDR19 NM_025132.3(WDR19): c.2792A> C (p.Tyr931Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187546086 GRCh38 Chromosome 4, 39253208: 39253208
7 WDR19 NM_025132.3(WDR19): c.910G> A (p.Val304Ile) single nucleotide variant Benign/Likely benign rs75964850 GRCh37 Chromosome 4, 39216240: 39216240
8 WDR19 NM_025132.3(WDR19): c.910G> A (p.Val304Ile) single nucleotide variant Benign/Likely benign rs75964850 GRCh38 Chromosome 4, 39214620: 39214620
9 WDR19 NM_025132.3(WDR19): c.1357-10T> C single nucleotide variant Benign/Likely benign rs16995189 GRCh37 Chromosome 4, 39219593: 39219593
10 WDR19 NM_025132.3(WDR19): c.1357-10T> C single nucleotide variant Benign/Likely benign rs16995189 GRCh38 Chromosome 4, 39217973: 39217973
11 WDR19 NM_025132.3(WDR19): c.1915A> G (p.Ser639Gly) single nucleotide variant Benign/Likely benign rs150649460 GRCh37 Chromosome 4, 39230243: 39230243
12 WDR19 NM_025132.3(WDR19): c.1915A> G (p.Ser639Gly) single nucleotide variant Benign/Likely benign rs150649460 GRCh38 Chromosome 4, 39228623: 39228623
13 WDR19 NM_025132.3(WDR19): c.3250G> A (p.Gly1084Ser) single nucleotide variant Benign/Likely benign rs16995209 GRCh37 Chromosome 4, 39267749: 39267749
14 WDR19 NM_025132.3(WDR19): c.3250G> A (p.Gly1084Ser) single nucleotide variant Benign/Likely benign rs16995209 GRCh38 Chromosome 4, 39266129: 39266129
15 WDR19 NM_025132.3(WDR19): c.1595T> C (p.Ile532Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs749672769 GRCh37 Chromosome 4, 39226619: 39226619
16 WDR19 NM_025132.3(WDR19): c.1595T> C (p.Ile532Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs749672769 GRCh38 Chromosome 4, 39224999: 39224999
17 WDR19 NM_025132.3(WDR19): c.523-3T> C single nucleotide variant Uncertain significance rs747603843 GRCh38 Chromosome 4, 39203639: 39203639
18 WDR19 NM_025132.3(WDR19): c.523-3T> C single nucleotide variant Uncertain significance rs747603843 GRCh37 Chromosome 4, 39205259: 39205259
19 WDR19 NM_025132.3(WDR19): c.929A> G (p.Tyr310Cys) single nucleotide variant Uncertain significance rs199783864 GRCh37 Chromosome 4, 39216259: 39216259
20 WDR19 NM_025132.3(WDR19): c.929A> G (p.Tyr310Cys) single nucleotide variant Uncertain significance rs199783864 GRCh38 Chromosome 4, 39214639: 39214639
21 WDR19 NM_025132.3(WDR19): c.2096G> A (p.Arg699Gln) single nucleotide variant Benign rs138529452 GRCh38 Chromosome 4, 39231910: 39231910
22 WDR19 NM_025132.3(WDR19): c.2096G> A (p.Arg699Gln) single nucleotide variant Benign rs138529452 GRCh37 Chromosome 4, 39233530: 39233530
23 WDR19 NM_025132.3(WDR19): c.2239A> G (p.Ile747Val) single nucleotide variant Likely benign rs144335584 GRCh37 Chromosome 4, 39233878: 39233878
24 WDR19 NM_025132.3(WDR19): c.2239A> G (p.Ile747Val) single nucleotide variant Likely benign rs144335584 GRCh38 Chromosome 4, 39232258: 39232258
25 WDR19 NM_025132.3(WDR19): c.3784G> A (p.Glu1262Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 39277087: 39277087
26 WDR19 NM_025132.3(WDR19): c.3784G> A (p.Glu1262Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 39278707: 39278707
27 WDR19 NM_025132.3(WDR19): c.3966C> T (p.Asn1322=) single nucleotide variant Likely benign rs767906377 GRCh38 Chromosome 4, 39278587: 39278587
28 WDR19 NM_025132.3(WDR19): c.3966C> T (p.Asn1322=) single nucleotide variant Likely benign rs767906377 GRCh37 Chromosome 4, 39280207: 39280207
29 WDR19 NM_025132.3(WDR19): c.3383T> C (p.Val1128Ala) single nucleotide variant Uncertain significance rs372799054 GRCh37 Chromosome 4, 39271620: 39271620
30 WDR19 NM_025132.3(WDR19): c.3383T> C (p.Val1128Ala) single nucleotide variant Uncertain significance rs372799054 GRCh38 Chromosome 4, 39270000: 39270000
31 WDR19 NM_025132.3(WDR19): c.3808T> A (p.Cys1270Ser) single nucleotide variant Uncertain significance rs1035768119 GRCh37 Chromosome 4, 39278731: 39278731
32 WDR19 NM_025132.3(WDR19): c.3808T> A (p.Cys1270Ser) single nucleotide variant Uncertain significance rs1035768119 GRCh38 Chromosome 4, 39277111: 39277111
33 WDR19 NM_025132.3(WDR19): c.1080delG (p.Ile361Leufs) deletion Pathogenic GRCh37 Chromosome 4, 39217579: 39217579
34 WDR19 NM_025132.3(WDR19): c.1080delG (p.Ile361Leufs) deletion Pathogenic GRCh38 Chromosome 4, 39215959: 39215959
35 WDR19 NM_025132.3(WDR19): c.1982+2T> C single nucleotide variant Likely pathogenic rs780847651 GRCh38 Chromosome 4, 39228692: 39228692
36 WDR19 NM_025132.3(WDR19): c.1982+2T> C single nucleotide variant Likely pathogenic rs780847651 GRCh37 Chromosome 4, 39230312: 39230312

Expression for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.1 TNFRSF1A TNFRSF1B
2
Show member pathways
11.02 TNFRSF1A TNFRSF1B
3 10.95 TNFRSF1A TNFRSF1B
4 10.67 TNFRSF1A TNFRSF1B
5 10.46 TNFRSF1A TNFRSF1B
6 10.1 TNFRSF1A TNFRSF1B

GO Terms for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.26 ESR1 NPPB NPPC NPR3
2 tumor necrosis factor receptor superfamily complex GO:0002947 8.62 TNFRSF1A TNFRSF1B

Biological processes related to Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.88 GADD45B NLRP3 TNFRSF1A TNFRSF1B
2 cell surface receptor signaling pathway GO:0007166 9.76 NPPB TNFRSF1A TNFRSF1B
3 negative regulation of inflammatory response GO:0050728 9.69 NLRP3 TNFRSF1A TNFRSF1B
4 regulation of blood pressure GO:0008217 9.63 NPPB NPR2 NPR3
5 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.59 TNFRSF1A TNFRSF1B
6 regulation of cardiac conduction GO:1903779 9.57 NPPC NPR2
7 cGMP-mediated signaling GO:0019934 9.56 NPPC NPR2
8 negative regulation of cardiac muscle hypertrophy GO:0010614 9.55 TNFRSF1A TNFRSF1B
9 regulation of blood vessel size GO:0050880 9.54 NPPB NPPC
10 positive regulation of urine volume GO:0035810 9.52 NPPB NPR3
11 reproductive process GO:0022414 9.49 NPPC NPR2
12 positive regulation of cGMP-mediated signaling GO:0010753 9.48 NPPC NPR2
13 aortic valve development GO:0003176 9.43 TNFRSF1A TNFRSF1B
14 negative regulation of extracellular matrix constituent secretion GO:0003332 9.4 TNFRSF1A TNFRSF1B
15 negative regulation of meiotic cell cycle GO:0051447 9.37 NPPC NPR2
16 negative regulation of oocyte maturation GO:1900194 9.32 NPPC NPR2
17 positive regulation of apoptotic process involved in morphogenesis GO:1902339 9.26 TNFRSF1A TNFRSF1B
18 pulmonary valve development GO:0003177 9.16 TNFRSF1A TNFRSF1B
19 cGMP biosynthetic process GO:0006182 9.13 NPPB NPPC NPR2
20 receptor guanylyl cyclase signaling pathway GO:0007168 8.8 NPPB NPPC NPR2

Molecular functions related to Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide hormone binding GO:0017046 9.37 NPR2 NPR3
2 hormone binding GO:0042562 9.32 NPR2 NPR3
3 tumor necrosis factor-activated receptor activity GO:0005031 9.26 TNFRSF1A TNFRSF1B
4 hormone receptor binding GO:0051427 9.16 NPPB NPPC
5 natriuretic peptide receptor activity GO:0016941 8.96 NPR2 NPR3
6 tumor necrosis factor binding GO:0043120 8.62 TNFRSF1A TNFRSF1B

Sources for Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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