SRTD7
MCID: SHR063
MIFTS: 48

Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly (SRTD7)

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 57 12 72 29 6 15 70
Srtd7 57 12 72
Srps5 57 12 72
Short-Rib Thoracic Dysplasia 7/20 with Polydactyly, Digenic 72 6
Short Rib-Polydactyly Syndrome, Type V 57 13
Short Rib-Polydactyly Syndrome Type V 12 72
Dysplasia, Thoracic, Short-Rib, Type 7 with or Without Polydactyly 39
Short-Rib Thoracic Dysplasia 7 Without Polydactyly 6
Short Rib-Polydactyly Syndrome, Type V; Srps5 57
Short Rib-Polydactyly Syndrome Type 5 58
Srps Type V 72
Srtd7/20 72

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity of phenotype (some patients have survived beyond 5 years)


HPO:

31
short-rib thoracic dysplasia 7 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

UniProtKB/Swiss-Prot : 72 Short-rib thoracic dysplasia 7 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. SRTD7 hallmarks are acromesomelic hypomineralization, campomelia, polysyndactyly, laterality defects, and cystic kidneys.
Short-rib thoracic dysplasia 7/20 with polydactyly, digenic: A digenic form of short-rib thoracic dysplasia caused by double heterozygosity for a mutation in the WDR35 gene and a mutation in the INTU gene. Short-rib thoracic dysplasia is part of a group of 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.

MalaCards based summary : Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly, also known as srtd7, is related to cranioectodermal dysplasia 2 and short rib-polydactyly syndrome. An important gene associated with Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly is WDR35 (WD Repeat Domain 35), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include eye, pancreas and heart, and related phenotypes are high palate and bowing of the long bones

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.

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). (614091) (Updated 05-Apr-2021)

Related Diseases for Short-Rib Thoracic Dysplasia 7 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 7 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 cranioectodermal dysplasia 2 10.2 WDR35 MATN3
2 short rib-polydactyly syndrome 10.1 WDR35 INTU
3 short-rib thoracic dysplasia 8 with or without polydactyly 10.0 DYNLT2B DYNC2I1
4 short-rib thoracic dysplasia 11 with or without polydactyly 10.0 DYNLT2B DYNC2I1
5 hypertension and brachydactyly syndrome 10.0 MATN3 IFT140
6 bardet-biedl syndrome 7 10.0 DYNLT2B DYNC2I1
7 multiple epiphyseal dysplasia 9.8 WDR35 MATN3
8 nephronophthisis 13 9.8 WDR19 TTC21B
9 ciliopathy 9.8 TTC21B IFT140
10 nephronophthisis 12 9.7 WDR19 TTC21B
11 short-rib thoracic dysplasia 2 with or without polydactyly 9.7 WDR19 TTC21B
12 cranioectodermal dysplasia 1 9.6 WDR35 WDR19 IFT140
13 odontochondrodysplasia 9.6 WDR35 WDR19 MATN3
14 short-rib thoracic dysplasia 5 with or without polydactyly 9.6 WDR35 WDR19 IFT140
15 joubert syndrome 17 9.6 WDR35 INTU IFT140 CLUAP1
16 senior-loken syndrome 1 9.5 WDR19 TTC21B IFT140
17 polycystic kidney disease 4 with or without polycystic liver disease 9.5 WDR19 TTC21B IFT140
18 cleft lip/palate 9.3 WDR35 INTU IFT140 DYNLT2B DYNC2I1
19 bardet-biedl syndrome 9.3 WDR35 WDR19 TTC21B IFT140
20 juvenile nephronophthisis 9.3 WDR19 TTC21B INTU IFT140
21 meckel syndrome, type 1 9.3 WDR19 TTC21B IFT140
22 leber plus disease 9.2 WDR19 TTC21B IFT140 CLUAP1
23 short-rib thoracic dysplasia 9 with or without polydactyly 9.1 WDR35 WDR19 TTC21B IFT140 CLUAP1
24 joubert syndrome 1 9.1 WDR35 WDR19 TTC21B IFT140 CLUAP1
25 fundus dystrophy 9.1 WDR35 WDR19 TTC21B IFT140 CLUAP1
26 short-rib thoracic dysplasia 12 9.0 WDR35 WDR19 TTC21B INTU DYNLT2B DYNC2I1
27 weyers acrofacial dysostosis 8.9 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
28 nephronophthisis 8.9 WDR35 WDR19 TTC21B INTU IFT140 CLUAP1
29 short-rib thoracic dysplasia 6 with or without polydactyly 8.9 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
30 short-rib thoracic dysplasia 1 with or without polydactyly 8.9 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
31 primary ciliary dyskinesia 8.8 WDR35 WDR19 TTC21B IFT140 DYNC2I1 CLUAP1
32 cranioectodermal dysplasia 8.7 WDR35 WDR19 TTC21B MATN3 IFT140 DYNLT2B
33 polydactyly 8.7 WDR35 WDR19 TTC21B INTU IFT140 DYNLT2B
34 ellis-van creveld syndrome 8.7 WDR35 WDR19 TTC21B INTU IFT140 DYNLT2B
35 asphyxiating thoracic dystrophy 8.7 WDR35 WDR19 TTC21B INTU IFT140 DYNLT2B
36 short-rib thoracic dysplasia 4 with or without polydactyly 8.6 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
37 short-rib thoracic dysplasia 3 with or without polydactyly 8.4 WDR35 WDR19 TTC21B INTU IFT140 DYNLT2B

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 bowing of the long bones 31 HP:0006487
3 short stature 31 HP:0004322
4 microdontia 31 HP:0000691
5 cleft palate 31 HP:0000175
6 ascites 31 HP:0001541
7 hydrops fetalis 31 HP:0001789
8 epicanthus 31 HP:0000286
9 cystic hygroma 31 HP:0000476
10 hepatic fibrosis 31 HP:0001395
11 dolichocephaly 31 HP:0000268
12 brachydactyly 31 HP:0001156
13 fine hair 31 HP:0002213
14 polycystic kidney dysplasia 31 HP:0000113
15 hypospadias 31 HP:0000047
16 renal hypoplasia 31 HP:0000089
17 narrow chest 31 HP:0000774
18 micromelia 31 HP:0002983
19 short distal phalanx of finger 31 HP:0009882
20 aplasia/hypoplasia of the eyebrow 31 HP:0100840
21 nail dysplasia 31 HP:0002164
22 sparse hair 31 HP:0008070
23 hypoplastic scapulae 31 HP:0000882
24 pulmonary hypoplasia 31 HP:0002089
25 renal cyst 31 HP:0000107
26 short long bone 31 HP:0003026
27 mesomelia 31 HP:0003027
28 short ribs 31 HP:0000773
29 flat acetabular roof 31 HP:0003180
30 agenesis of permanent teeth 31 HP:0006349
31 fused teeth 31 HP:0011090
32 short lingual frenulum 31 HP:0000200
33 polydactyly 31 HP:0010442
34 syndactyly 31 HP:0001159
35 postaxial polydactyly 31 HP:0100259
36 thoracic dysplasia 31 HP:0006644
37 short uvula 31 HP:0010812

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Prenatal Manifestations:
hydrops fetalis

Abdomen Liver:
hepatic fibrosis

Skeletal Hands:
brachydactyly
syndactyly
postaxial polydactyly
hypoplastic distal phalanges

Chest External Features:
narrow chest

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae
markedly shortened ribs

Head And Neck Mouth:
short lingual frenulum
short uvula
high-arched palate
cleft palate, posterior
accessory labial frenula
more
Head And Neck Eyes:
epicanthal folds
sparse to absent eyebrows

Genitourinary Kidneys:
hypoplastic kidneys
polycystic kidneys
glomerular cysts
tubular cysts
chronic renal dysfunction/failure

Respiratory Lung:
hypoplastic lungs

Genitourinary External Genitalia Male:
hypospadias, mild

Abdomen Spleen:
splenic dysgenesis

Abdomen External Features:
ascites

Head And Neck Neck:
cystic hygroma

Head And Neck Head:
dolichocephaly
scalp edema

Skin Nails Hair Hair:
fine hair
sparse hair

Skeletal Limbs:
micromelia
mesomelia
short long bones
bowed long bones
absent ossification of radii, ulnae, tibiae, and fibulae

Head And Neck Teeth:
fused teeth
small teeth
hypoplastic enamel
missing teeth

Skeletal Feet:
syndactyly
postaxial polydactyly
absent ossification of middle and distal phalanges

Skin Nails Hair Nails:
dysplastic nails

Skeletal Pelvis:
flat acetabular roofs

Abdomen Gastrointestinal:
gastrointestinal malrotation

Abdomen Pancreas:
pancreatic dysgenesis

Skin Nails Hair Skin:
skin edema

Clinical features from OMIM®:

614091 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 CLUAP1 IFT140 INTU MATN3 TTC21B WDR19
2 embryo MP:0005380 9.7 CLUAP1 DYNC2I1 IFT140 INTU TTC21B WDR19
3 limbs/digits/tail MP:0005371 9.43 IFT140 INTU MATN3 TTC21B WDR19 WDR35
4 skeleton MP:0005390 9.1 IFT140 INTU MATN3 TTC21B WDR19 WDR35

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 29 WDR35

Anatomical Context for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

40
Eye, Pancreas, Heart, Liver, Bone, Kidney, Tongue

Publications for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

(show all 13)
# Title Authors PMID Year
1
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 6 57
28400947 2017
2
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 57 6
27158779 2016
3
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. 57 6
25908617 2015
4
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 57 6
21473986 2011
5
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. 6 57
17935248 2007
6
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6
29068549 2018
7
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 6
28332779 2017
8
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 6
25914204 2015
9
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
10
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 6
22486404 2013
11
Ciliary disorder of the skeleton. 57
22791528 2012
12
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. 61
28870638 2017
13
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. 61
26691894 2016

Variations for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

6 (show top 50) (show all 242)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR35 NM_020779.4(WDR35):c.1468del (p.Gln490fs) Deletion Pathogenic 289210 rs886044119 GRCh37: 2:20151178-20151178
GRCh38: 2:19951417-19951417
2 INTU NM_015693.4(INTU):c.826C>T (p.Gln276Ter) SNV Pathogenic 504483 rs373900644 GRCh37: 4:128584593-128584593
GRCh38: 4:127663438-127663438
3 WDR35 NM_020779.4(WDR35):c.307+214_436+1120del Deletion Pathogenic 31043 GRCh37: 2:20177392-20180238
GRCh38: 2:19977631-19980477
4 WDR35 NM_020779.4(WDR35):c.1600C>T (p.Arg534Ter) SNV Pathogenic 31044 rs387907085 GRCh37: 2:20146256-20146256
GRCh38: 2:19946495-19946495
5 WDR35 NM_020779.4(WDR35):c.781T>C (p.Trp261Arg) SNV Pathogenic 31045 rs431905505 GRCh37: 2:20173425-20173425
GRCh38: 2:19973664-19973664
6 WDR35 NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) SNV Pathogenic 446644 rs200649783 GRCh37: 2:20169317-20169317
GRCh38: 2:19969556-19969556
7 WDR35 NM_020779.4(WDR35):c.143-18T>A SNV Pathogenic 488656 rs1553324519 GRCh37: 2:20182313-20182313
GRCh38: 2:19982552-19982552
8 WDR35 NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) SNV Pathogenic 446644 rs200649783 GRCh37: 2:20169317-20169317
GRCh38: 2:19969556-19969556
9 WDR35 NM_020779.4(WDR35):c.1195-1699dup Duplication Pathogenic 570299 rs1327489348 GRCh37: 2:20162072-20162073
GRCh38: 2:19962311-19962312
10 WDR35 NM_020779.4(WDR35):c.994C>T (p.Arg332Ter) SNV Pathogenic 579675 rs199840434 GRCh37: 2:20169255-20169255
GRCh38: 2:19969494-19969494
11 WDR35 NM_020779.4(WDR35):c.1546C>T (p.Gln516Ter) SNV Pathogenic 617914 rs1050086118 GRCh37: 2:20146310-20146310
GRCh38: 2:19946549-19946549
12 WDR35 NM_020779.4(WDR35):c.2976del (p.Leu993fs) Deletion Pathogenic 839633 GRCh37: 2:20130302-20130302
GRCh38: 2:19930541-19930541
13 WDR35 NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) SNV Pathogenic 65619 rs199952377 GRCh37: 2:20141557-20141557
GRCh38: 2:19941796-19941796
14 WDR35 NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter) SNV Pathogenic 572077 rs767751856 GRCh37: 2:20153614-20153614
GRCh38: 2:19953853-19953853
15 WDR35 NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) SNV Likely pathogenic 446644 rs200649783 GRCh37: 2:20169317-20169317
GRCh38: 2:19969556-19969556
16 WDR35 NM_020779.4(WDR35):c.1255+1G>A SNV Likely pathogenic 286673 rs371669862 GRCh37: 2:20160314-20160314
GRCh38: 2:19960553-19960553
17 WDR35 NM_020779.4(WDR35):c.1400G>A (p.Arg467Lys) SNV Likely pathogenic 617905 rs1558342399 GRCh37: 2:20153595-20153595
GRCh38: 2:19953834-19953834
18 WDR35 NM_020779.4(WDR35):c.3345G>A (p.Leu1115=) SNV Likely pathogenic 570668 rs746128772 GRCh37: 2:20113815-20113815
GRCh38: 2:19914054-19914054
19 WDR35 NM_020779.4(WDR35):c.1846-30_1848del Deletion Likely pathogenic 471484 rs1553317813 GRCh37: 2:20141598-20141630
GRCh38: 2:19941837-19941869
20 WDR35 NM_020779.4(WDR35):c.664C>G (p.Pro222Ala) SNV Uncertain significance 478785 rs1553322982 GRCh37: 2:20174301-20174301
GRCh38: 2:19974540-19974540
21 WDR35 NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) SNV Uncertain significance 579031 rs370797645 GRCh37: 2:20137642-20137642
GRCh38: 2:19937881-19937881
22 WDR35 NM_020779.4(WDR35):c.2580G>A (p.Met860Ile) SNV Uncertain significance 538842 rs201443916 GRCh37: 2:20133240-20133240
GRCh38: 2:19933479-19933479
23 WDR35 NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) SNV Uncertain significance 333372 rs201153804 GRCh37: 2:20130252-20130252
GRCh38: 2:19930491-19930491
24 WDR35 NM_020779.4(WDR35):c.1195-1682C>T SNV Uncertain significance 333395 rs143430766 GRCh37: 2:20162057-20162057
GRCh38: 2:19962296-19962296
25 WDR35 NM_020779.4(WDR35):c.*2619C>T SNV Uncertain significance 333333 rs565144558 GRCh37: 2:20110700-20110700
GRCh38: 2:19910939-19910939
26 WDR35 NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys) SNV Uncertain significance 333387 rs140196566 GRCh37: 2:20137706-20137706
GRCh38: 2:19937945-19937945
27 WDR35 NM_020779.4(WDR35):c.2107A>G (p.Thr703Ala) SNV Uncertain significance 333386 rs886055405 GRCh37: 2:20137664-20137664
GRCh38: 2:19937903-19937903
28 WDR35 NM_020779.4(WDR35):c.24+4A>G SNV Uncertain significance 333408 rs780961583 GRCh37: 2:20189749-20189749
GRCh38: 2:19989988-19989988
29 WDR35 NM_020779.4(WDR35):c.2492A>G (p.Tyr831Cys) SNV Uncertain significance 333380 rs886055403 GRCh37: 2:20135287-20135287
GRCh38: 2:19935526-19935526
30 WDR35 NM_020779.4(WDR35):c.2400T>C (p.Ala800=) SNV Uncertain significance 333381 rs886055404 GRCh37: 2:20135994-20135994
GRCh38: 2:19936233-19936233
31 WDR35 NM_020779.4(WDR35):c.*380G>A SNV Uncertain significance 333366 rs886055401 GRCh37: 2:20112939-20112939
GRCh38: 2:19913178-19913178
32 WDR35 NM_020779.4(WDR35):c.1697C>T (p.Thr566Met) SNV Uncertain significance 333390 rs780159239 GRCh37: 2:20145695-20145695
GRCh38: 2:19945934-19945934
33 WDR35 NM_020779.4(WDR35):c.*1461A>C SNV Uncertain significance 333347 rs886055400 GRCh37: 2:20111858-20111858
GRCh38: 2:19912097-19912097
34 WDR35 NM_020779.4(WDR35):c.847G>A (p.Val283Met) SNV Uncertain significance 333400 rs576085633 GRCh37: 2:20173359-20173359
GRCh38: 2:19973598-19973598
35 WDR35 NM_020779.4(WDR35):c.2672T>C (p.Val891Ala) SNV Uncertain significance 658342 rs370706293 GRCh37: 2:20132195-20132195
GRCh38: 2:19932434-19932434
36 WDR35 NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) SNV Uncertain significance 661324 rs200059077 GRCh37: 2:20173353-20173353
GRCh38: 2:19973592-19973592
37 WDR35 NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu) SNV Uncertain significance 568490 rs1558317742 GRCh37: 2:20113434-20113434
GRCh38: 2:19913673-19913673
38 WDR35 NM_020779.4(WDR35):c.10T>C (p.Tyr4His) SNV Uncertain significance 643121 rs772365561 GRCh37: 2:20189767-20189767
GRCh38: 2:19990006-19990006
39 WDR35 NM_020779.4(WDR35):c.1195-1682C>T SNV Uncertain significance 333395 rs143430766 GRCh37: 2:20162057-20162057
GRCh38: 2:19962296-19962296
40 WDR35 NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) SNV Uncertain significance 333372 rs201153804 GRCh37: 2:20130252-20130252
GRCh38: 2:19930491-19930491
41 WDR35 NM_020779.4(WDR35):c.*1413C>T SNV Uncertain significance 894799 GRCh37: 2:20111906-20111906
GRCh38: 2:19912145-19912145
42 WDR35 NM_020779.4(WDR35):c.*1370G>A SNV Uncertain significance 894801 GRCh37: 2:20111949-20111949
GRCh38: 2:19912188-19912188
43 WDR35 NM_020779.4(WDR35):c.*1005C>A SNV Uncertain significance 894872 GRCh37: 2:20112314-20112314
GRCh38: 2:19912553-19912553
44 WDR35 NM_020779.4(WDR35):c.*997T>C SNV Uncertain significance 894873 GRCh37: 2:20112322-20112322
GRCh38: 2:19912561-19912561
45 WDR35 NM_020779.4(WDR35):c.*2726A>G SNV Uncertain significance 333329 rs886055395 GRCh37: 2:20110593-20110593
GRCh38: 2:19910832-19910832
46 WDR35 NM_020779.4(WDR35):c.766G>A (p.Val256Ile) SNV Uncertain significance 333402 rs745580829 GRCh37: 2:20173440-20173440
GRCh38: 2:19973679-19973679
47 WDR35 NM_020779.4(WDR35):c.*2797G>A SNV Uncertain significance 333327 rs528776835 GRCh37: 2:20110522-20110522
GRCh38: 2:19910761-19910761
48 WDR35 NM_020779.4(WDR35):c.*3269G>A SNV Uncertain significance 333317 rs886055391 GRCh37: 2:20110050-20110050
GRCh38: 2:19910289-19910289
49 WDR35 NM_020779.4(WDR35):c.*1934A>G SNV Uncertain significance 333340 rs886055399 GRCh37: 2:20111385-20111385
GRCh38: 2:19911624-19911624
50 WDR35 NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser) SNV Uncertain significance 333370 rs200258619 GRCh37: 2:20113967-20113967
GRCh38: 2:19914206-19914206

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

72
# Symbol AA change Variation ID SNP ID
1 WDR35 p.Trp261Arg VAR_065955 rs431905505
2 WDR35 p.Trp311Leu VAR_076784 rs200649783
3 WDR35 p.Arg478Lys VAR_080632 rs155834239

Expression for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
2
Show member pathways
12.09 WDR35 WDR19 TTC21B INTU IFT140
3 10.78 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1

GO Terms for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.88 WDR35 WDR19 TTC21B INTU IFT140 DYNC2I1
2 cell projection GO:0042995 9.8 WDR35 WDR19 TTC21B INTU IFT140 DYNC2I1
3 centrosome GO:0005813 9.72 WDR35 IFT140 DYNLT2B DYNC2I1 CLUAP1
4 microtubule organizing center GO:0005815 9.71 WDR35 IFT140 DYNC2I1
5 cilium GO:0005929 9.7 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
6 ciliary basal body GO:0036064 9.63 WDR35 INTU IFT140
7 axoneme GO:0005930 9.61 WDR35 IFT140 DYNLT2B
8 photoreceptor outer segment GO:0001750 9.55 WDR19 IFT140
9 photoreceptor connecting cilium GO:0032391 9.52 WDR19 IFT140
10 ciliary base GO:0097546 9.51 DYNLT2B DYNC2I1
11 non-motile cilium GO:0097730 9.49 WDR19 IFT140
12 cytoplasmic dynein complex GO:0005868 9.48 DYNLT2B DYNC2I1
13 interphase microtubule organizing center GO:0031021 9.37 DYNLT2B DYNC2I1
14 intraciliary transport particle A GO:0030991 9.26 WDR35 WDR19 TTC21B IFT140
15 ciliary tip GO:0097542 9.1 WDR35 WDR19 TTC21B IFT140 DYNC2I1 CLUAP1

Biological processes related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.73 WDR35 WDR19 INTU IFT140 DYNC2I1 CLUAP1
2 cilium assembly GO:0060271 9.7 WDR35 WDR19 INTU IFT140 DYNLT2B DYNC2I1
3 protein localization to cilium GO:0061512 9.58 WDR35 TTC21B IFT140
4 smoothened signaling pathway GO:0007224 9.54 WDR19 TTC21B
5 intraciliary transport GO:0042073 9.54 WDR35 IFT140 DYNC2I1
6 embryonic digit morphogenesis GO:0042733 9.52 INTU IFT140
7 non-motile cilium assembly GO:1905515 9.51 INTU IFT140
8 regulation of smoothened signaling pathway GO:0008589 9.5 TTC21B INTU IFT140
9 regulation of cilium assembly GO:1902017 9.49 IFT140 DYNLT2B
10 embryonic cranial skeleton morphogenesis GO:0048701 9.48 WDR19 IFT140
11 embryonic camera-type eye development GO:0031076 9.46 WDR19 IFT140
12 regulation of intraciliary retrograde transport GO:1905799 9.43 TTC21B DYNLT2B
13 intraciliary transport involved in cilium assembly GO:0035735 9.43 WDR35 WDR19 TTC21B IFT140 DYNC2I1 CLUAP1
14 intraciliary retrograde transport GO:0035721 9.1 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1

Sources for Short-Rib Thoracic Dysplasia 7 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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