SRTD5
MCID: SHR068
MIFTS: 48

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 72 70
Asphyxiating Thoracic Dystrophy 5 57 12 72 29 13 6 15
Srtd5 57 12 72
Atd5 57 12 72
Dysplasia, Short-Rib Thoracic, Type 5, with or Without Polydactyly 39
Asphyxiating Thoracic Dystrophy 5; Atd5 57
Jeune Asphyxiating Thoracic Dystrophy 72
Jeune Syndrome 5 72
Jatd 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
short-rib thoracic dysplasia 5 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110089
OMIM® 57 614376
OMIM Phenotypic Series 57 PS208500
MeSH 44 D012779
ICD10 32 Q77.2
MedGen 41 C3280598
UMLS 70 C3280598

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) (Updated 05-Apr-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly, also known as asphyxiating thoracic dystrophy 5, is related to short-rib thoracic dysplasia 4 with or without polydactyly 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 Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include eye, pancreas and kidney, and related phenotypes are cataract and inguinal hernia

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

UniProtKB/Swiss-Prot : 72 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 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 5 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 4 with or without polydactyly 31.1 WDR35 WDR19 IFT140
2 short-rib thoracic dysplasia 1 with or without polydactyly 30.7 WDR35 WDR19 IFT140 IFT122
3 polydactyly 30.6 WDR35 WDR19 IFT140
4 short-rib thoracic dysplasia 3 with or without polydactyly 30.5 WDR35 WDR19 IFT140 IFT122
5 asphyxiating thoracic dystrophy 30.3 WDR35 WDR19 IFT140 IFT122
6 short-rib thoracic dysplasia 7 with or without polydactyly 30.1 WDR35 WDR19 IFT140
7 odontochondrodysplasia 30.1 WDR35 WDR19 NPR2
8 short-rib thoracic dysplasia 12 29.8 WDR35 WDR19 IFT122
9 joubert syndrome 1 29.8 WDR35 WDR19 IFT140 IFT122
10 brachydactyly 29.5 WDR35 WDR19 NPR2 IFT122
11 short-rib thoracic dysplasia 9 with or without polydactyly 29.5 WDR35 WDR19 IFT140 IFT122
12 short-rib thoracic dysplasia 6 with or without polydactyly 29.4 WDR35 WDR19 IFT140 IFT122
13 bardet-biedl syndrome 29.4 WDR35 WDR19 IFT140 IFT122
14 fundus dystrophy 29.3 WDR35 WDR19 IFT140 IFT122
15 retinitis pigmentosa 28.6 WDR35 WDR19 IFT140 IFT122 EFTUD2
16 joubert syndrome with jeune asphyxiating thoracic dystrophy 11.1
17 short-rib thoracic dysplasia 2 with or without polydactyly 10.9
18 short-rib thoracic dysplasia 10 with or without polydactyly 10.4
19 short-rib thoracic dysplasia 17 with or without polydactyly 10.4
20 retinal degeneration 10.4
21 ciliopathy 10.4
22 nephronophthisis 1 10.2
23 orofaciodigital syndrome i 10.2
24 short-rib thoracic dysplasia 8 with or without polydactyly 10.2
25 short-rib thoracic dysplasia 11 with or without polydactyly 10.2
26 joubert syndrome 21 10.2
27 bardet-biedl syndrome 4 10.2
28 bardet-biedl syndrome 8 10.2
29 short-rib thoracic dysplasia 13 with or without polydactyly 10.2
30 short-rib thoracic dysplasia 14 with polydactyly 10.2
31 short-rib thoracic dysplasia 15 with polydactyly 10.2
32 short-rib thoracic dysplasia 16 with or without polydactyly 10.2
33 short-rib thoracic dysplasia 18 with polydactyly 10.2
34 short-rib thoracic dysplasia 19 with or without polydactyly 10.2
35 short-rib thoracic dysplasia 20 with polydactyly 10.2
36 autosomal recessive disease 10.2
37 metaphyseal dysplasia 10.2
38 neuroretinitis 10.2
39 hydrocephalus 10.2
40 respiratory failure 10.2
41 tuberous sclerosis 10.2
42 retinitis 10.2
43 orofaciodigital syndrome 10.2
44 retinal disease 10.2
45 hypotonia 10.2
46 short rib-polydactyly syndrome 10.2
47 inherited retinal disorder 10.2
48 acrofacial dysostosis 10.0 WDR35 EFTUD2
49 joubert syndrome 17 10.0 WDR35 IFT140
50 mandibulofacial dysostosis, guion-almeida type 9.9 GNAI3 EFTUD2

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

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

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 inguinal hernia 31 HP:0000023
3 proteinuria 31 HP:0000093
4 full cheeks 31 HP:0000293
5 myopia 31 HP:0000545
6 brachydactyly 31 HP:0001156
7 thin upper lip vermilion 31 HP:0000219
8 renal hypoplasia 31 HP:0000089
9 narrow chest 31 HP:0000774
10 short foot 31 HP:0001773
11 rhizomelia 31 HP:0008905
12 stage 5 chronic kidney disease 31 HP:0003774
13 metaphyseal widening 31 HP:0003016
14 glomerulonephritis 31 HP:0000099
15 short iliac bones 31 HP:0100866
16 elevated serum creatinine 31 HP:0003259
17 pes valgus 31 HP:0008081
18 thoracic dysplasia 31 HP:0006644
19 chronic tubulointerstitial nephritis 31 HP:0004743

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen External Features:
inguinal hernia

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

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

Head And Neck Mouth:
thin upper lip

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 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

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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 ANKH GNAI3 IFT122 IFT140 NPR2 WDR35
2 craniofacial MP:0005382 9.8 ANKH IFT122 IFT140 NPR2 WDR19
3 homeostasis/metabolism MP:0005376 9.8 ANKH EFTUD2 GNAI3 IFT122 IFT140 NPR2
4 digestive/alimentary MP:0005381 9.77 IFT122 IFT140 NPR2 WDR19 WDR35
5 embryo MP:0005380 9.72 EFTUD2 IFT122 IFT140 WDR19 WDR35
6 limbs/digits/tail MP:0005371 9.63 ANKH IFT122 IFT140 NPR2 WDR19 WDR35
7 mortality/aging MP:0010768 9.5 ANKH EFTUD2 IFT122 IFT140 NPR2 WDR19
8 skeleton MP:0005390 9.1 ANKH GNAI3 IFT140 NPR2 WDR19 WDR35

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:

40
Eye, Pancreas, Kidney, Liver, Lung

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 17)
# Title Authors PMID Year
1
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 6 57
22019273 2011
2
Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. 6 57
19430947 2010
3
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. 6
30266093 2018
4
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6
29068549 2018
5
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. 6
28973083 2017
6
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 6
28621010 2017
7
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. 6
27596865 2016
8
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 6
27241786 2016
9
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. 6
26275793 2015
10
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 6
25726036 2015
11
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
12
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 6
23559409 2013
13
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 6
23683095 2013
14
Ciliary disorder of the skeleton. 57
22791528 2012
15
[Estrogen stimulates cell proliferation and regulates the expression of proteins in C-type natriuretic peptide signaling pathway during chondrogenesis in ATDC5 cells]. 61
25224237 2014
16
Genetics and experimental models of crystal-induced arthritis. Lessons learned from mice and men: is it crystal clear? 61
17278928 2007
17
A novel domain antibody rationally designed against TNF-alpha using variable region of human heavy chain antibody as scaffolds to display antagonistic peptides. 61
17125837 2007

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

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

6 (show top 50) (show all 271)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR19 NM_025132.4(WDR19):c.20T>C (p.Leu7Pro) SNV Pathogenic 30705 rs387906982 GRCh37: 4:39187359-39187359
GRCh38: 4:39185739-39185739
2 WDR19 NM_025132.4(WDR19):c.1080del (p.Ile361fs) Deletion Pathogenic 542761 rs1553907440 GRCh37: 4:39217578-39217578
GRCh38: 4:39215958-39215958
3 WDR19 NM_025132.4(WDR19):c.108T>G (p.Tyr36Ter) SNV Pathogenic 802067 rs1577822861 GRCh37: 4:39188168-39188168
GRCh38: 4:39186548-39186548
4 WDR19 NM_025132.4(WDR19):c.1250-1G>A SNV Pathogenic 802068 rs1327583103 GRCh37: 4:39218753-39218753
GRCh38: 4:39217133-39217133
5 WDR19 NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) SNV Pathogenic 30703 rs387906980 GRCh37: 4:39233563-39233563
GRCh38: 4:39231943-39231943
6 WDR19 NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) SNV Pathogenic 30703 rs387906980 GRCh37: 4:39233563-39233563
GRCh38: 4:39231943-39231943
7 WDR19 NM_025132.4(WDR19):c.275T>G (p.Leu92Ter) SNV Pathogenic 961687 GRCh37: 4:39191386-39191386
GRCh38: 4:39189766-39189766
8 WDR19 NM_025132.4(WDR19):c.781dup (p.Thr261fs) Duplication Pathogenic 446634 rs748656635 GRCh37: 4:39207246-39207247
GRCh38: 4:39205626-39205627
9 WDR19 NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) SNV Pathogenic 127158 rs79436363 GRCh37: 4:39274649-39274649
GRCh38: 4:39273029-39273029
10 WDR19 NM_025132.4(WDR19):c.3565+1G>A SNV Pathogenic 127159 rs587777352 GRCh37: 4:39274682-39274682
GRCh38: 4:39273062-39273062
11 WDR19 NM_025132.4(WDR19):c.716+2del Deletion Likely pathogenic 941323 GRCh37: 4:39206888-39206888
GRCh38: 4:39205268-39205268
12 WDR19 NM_025132.4(WDR19):c.2363+1G>A SNV Likely pathogenic 280765 rs886041912 GRCh37: 4:39236496-39236496
GRCh38: 4:39234876-39234876
13 WDR19 NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro) SNV Likely pathogenic 802069 rs201685269 GRCh37: 4:39254822-39254822
GRCh38: 4:39253202-39253202
14 WDR19 NM_025132.4(WDR19):c.961+2T>C SNV Likely pathogenic 841262 GRCh37: 4:39216293-39216293
GRCh38: 4:39214673-39214673
15 WDR19 NM_025132.4(WDR19):c.1982+2T>C SNV Likely pathogenic 568100 rs780847651 GRCh37: 4:39230312-39230312
GRCh38: 4:39228692-39228692
16 WDR19 NM_025132.4(WDR19):c.959A>T (p.Lys320Ile) SNV Uncertain significance 640349 rs1577897014 GRCh37: 4:39216289-39216289
GRCh38: 4:39214669-39214669
17 WDR19 NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser) SNV Uncertain significance 646892 rs756862143 GRCh37: 4:39259151-39259151
GRCh38: 4:39257531-39257531
18 WDR19 NM_025132.4(WDR19):c.2003T>C (p.Met668Thr) SNV Uncertain significance 654947 rs1577943470 GRCh37: 4:39233437-39233437
GRCh38: 4:39231817-39231817
19 WDR19 NM_025132.4(WDR19):c.3936C>T (p.Ser1312=) SNV Uncertain significance 660111 rs200255703 GRCh37: 4:39280177-39280177
GRCh38: 4:39278557-39278557
20 WDR19 NM_025132.4(WDR19):c.2945A>G (p.Glu982Gly) SNV Uncertain significance 842194 GRCh37: 4:39255594-39255594
GRCh38: 4:39253974-39253974
21 WDR19 NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) SNV Uncertain significance 542762 rs1035768119 GRCh37: 4:39278731-39278731
GRCh38: 4:39277111-39277111
22 WDR19 NM_025132.4(WDR19):c.1839A>G (p.Leu613=) SNV Uncertain significance 348738 rs201320006 GRCh37: 4:39230167-39230167
GRCh38: 4:39228547-39228547
23 WDR19 NM_025132.4(WDR19):c.3383T>C (p.Val1128Ala) SNV Uncertain significance 476157 rs372799054 GRCh37: 4:39271620-39271620
GRCh38: 4:39270000-39270000
24 WDR19 NM_025132.4(WDR19):c.13+14C>T SNV Uncertain significance 348757 rs758352852 GRCh37: 4:39280297-39280297
GRCh38: 4:39278677-39278677
25 WDR19 NM_025132.4(WDR19):c.1198C>T (p.Leu400=) SNV Uncertain significance 261856 rs199765304 GRCh37: 4:39217779-39217779
GRCh38: 4:39216159-39216159
26 WDR19 NM_025132.4(WDR19):c.3358+15C>T SNV Uncertain significance 348749 rs750722358 GRCh37: 4:39269726-39269726
GRCh38: 4:39268106-39268106
27 WDR19 NM_025132.4(WDR19):c.2218T>C (p.Tyr740His) SNV Uncertain significance 348741 rs886059399 GRCh37: 4:39233857-39233857
GRCh38: 4:39232237-39232237
28 WDR19 NM_025132.4(WDR19):c.1293C>T (p.Ala431=) SNV Uncertain significance 348734 rs886059397 GRCh37: 4:39218797-39218797
GRCh38: 4:39217177-39217177
29 WDR19 NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe) SNV Uncertain significance 348744 rs780963454 GRCh37: 4:39254818-39254818
GRCh38: 4:39253198-39253198
30 WDR19 NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) SNV Uncertain significance 348743 rs886059400 GRCh37: 4:39245875-39245875
GRCh38: 4:39244255-39244255
31 WDR19 NM_025132.4(WDR19):c.2364-15T>C SNV Uncertain significance 348742 rs771036360 GRCh37: 4:39241882-39241882
GRCh38: 4:39240262-39240262
32 WDR19 NM_025132.4(WDR19):c.*184T>G SNV Uncertain significance 348761 rs886059405 GRCh37: 4:39287277-39287277
GRCh38: 4:39285657-39285657
33 WDR19 NM_025132.4(WDR19):c.3602G>A (p.Cys1201Tyr) SNV Uncertain significance 348753 rs886059402 GRCh37: 4:39276464-39276464
GRCh38: 4:39274844-39274844
34 WDR19 NM_025132.4(WDR19):c.*152G>A SNV Uncertain significance 348760 rs533059483 GRCh37: 4:39287245-39287245
GRCh38: 4:39285625-39285625
35 WDR19 NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile) SNV Uncertain significance 348756 rs886059403 GRCh37: 4:39278698-39278698
GRCh38: 4:39277078-39277078
36 WDR19 NM_025132.4(WDR19):c.1173C>T (p.Asn391=) SNV Uncertain significance 348731 rs777985189 GRCh37: 4:39217754-39217754
GRCh38: 4:39216134-39216134
37 WDR19 NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) SNV Uncertain significance 348729 rs192495145 GRCh37: 4:39217563-39217563
GRCh38: 4:39215943-39215943
38 WDR19 NM_025132.4(WDR19):c.198A>T (p.Gly66=) SNV Uncertain significance 348724 rs749815295 GRCh37: 4:39191309-39191309
GRCh38: 4:39189689-39189689
39 WDR19 NM_025132.4(WDR19):c.935T>C (p.Ile312Thr) SNV Uncertain significance 348728 rs886059396 GRCh37: 4:39216265-39216265
GRCh38: 4:39214645-39214645
40 WDR19 NM_025132.4(WDR19):c.1357-7G>A SNV Uncertain significance 348735 rs377101599 GRCh37: 4:39219596-39219596
GRCh38: 4:39217976-39217976
41 WDR19 NM_025132.4(WDR19):c.*131C>T SNV Uncertain significance 348759 rs886059404 GRCh37: 4:39287224-39287224
GRCh38: 4:39285604-39285604
42 WDR19 NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) SNV Uncertain significance 348752 rs886059401 GRCh37: 4:39271676-39271676
GRCh38: 4:39270056-39270056
43 WDR19 NM_025132.4(WDR19):c.6+5A>G SNV Uncertain significance 348723 rs201198839 GRCh37: 4:39184188-39184188
GRCh38: 4:39182568-39182568
44 WDR19 NM_025132.4(WDR19):c.3283T>C (p.Leu1095=) SNV Uncertain significance 348748 rs769329045 GRCh37: 4:39269636-39269636
GRCh38: 4:39268016-39268016
45 WDR19 NM_025132.4(WDR19):c.1932G>A (p.Thr644=) SNV Uncertain significance 348739 rs886059398 GRCh37: 4:39230260-39230260
GRCh38: 4:39228640-39228640
46 WDR19 NM_025132.4(WDR19):c.750A>T (p.Ser250=) SNV Uncertain significance 348726 rs886059395 GRCh37: 4:39207216-39207216
GRCh38: 4:39205596-39205596
47 WDR19 NM_025132.4(WDR19):c.2361C>T (p.Phe787=) SNV Uncertain significance 287684 rs200133722 GRCh37: 4:39236493-39236493
GRCh38: 4:39234873-39234873
48 WDR19 NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) SNV Uncertain significance 348745 rs199678654 GRCh37: 4:39257482-39257482
GRCh38: 4:39255862-39255862
49 WDR19 NM_025132.4(WDR19):c.3483+5G>A SNV Uncertain significance 900966 GRCh37: 4:39271725-39271725
GRCh38: 4:39270105-39270105
50 WDR19 NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) SNV Uncertain significance 348750 rs545916111 GRCh37: 4:39271599-39271599
GRCh38: 4:39269979-39269979

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

72
# Symbol AA change Variation ID SNP ID
1 WDR19 p.Leu7Pro VAR_067312 rs387906982

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
Show member pathways
12.18 WDR35 WDR19 IFT140 IFT122
2
Show member pathways
11.8 WDR35 WDR19 IFT140 IFT122
3 10.54 WDR35 WDR19 IFT140 IFT122

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 WDR35 WDR19 IFT140 IFT122 GNAI3
2 cell projection GO:0042995 9.76 WDR35 WDR19 IFT140 IFT122
3 centrosome GO:0005813 9.67 WDR35 IFT140 GNAI3
4 cilium GO:0005929 9.62 WDR35 WDR19 IFT140 IFT122
5 microtubule organizing center GO:0005815 9.61 WDR35 IFT140 GNAI3
6 ciliary basal body GO:0036064 9.54 WDR35 IFT140 IFT122
7 photoreceptor outer segment GO:0001750 9.48 WDR19 IFT140
8 photoreceptor connecting cilium GO:0032391 9.43 WDR19 IFT140 IFT122
9 non-motile cilium GO:0097730 9.33 WDR19 IFT140 IFT122
10 ciliary tip GO:0097542 9.26 WDR35 WDR19 IFT140 IFT122
11 intraciliary transport particle A GO:0030991 8.92 WDR35 WDR19 IFT140 IFT122

Biological processes 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 cilium assembly GO:0060271 9.67 WDR35 WDR19 IFT140 IFT122
2 cell projection organization GO:0030030 9.62 WDR35 WDR19 IFT140 IFT122
3 non-motile cilium assembly GO:1905515 9.46 IFT140 IFT122
4 embryonic cranial skeleton morphogenesis GO:0048701 9.43 WDR19 IFT140
5 protein localization to cilium GO:0061512 9.43 WDR35 IFT140 IFT122
6 embryonic camera-type eye development GO:0031076 9.4 WDR19 IFT140
7 intraciliary transport GO:0042073 9.33 WDR35 IFT140 IFT122
8 intraciliary transport involved in cilium assembly GO:0035735 9.26 WDR35 WDR19 IFT140 IFT122
9 intraciliary retrograde transport GO:0035721 8.92 WDR35 WDR19 IFT140 IFT122

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 GTP binding GO:0005525 8.8 NPR2 GNAI3 EFTUD2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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