SRTD7
MCID: SHR063
MIFTS: 34

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 75 73
Srtd7 57 12 75
Srps5 57 12 75
Short-Rib Thoracic Dysplasia 7/20 with Polydactyly, Digenic 75 6
Short Rib-Polydactyly Syndrome, Type V 57 13
Short Rib Polydactyly Syndrome 5 29 6
Dysplasia, Thoracic, Short-Rib, Type 7 with or Without Polydactyly ) 40
Short-Rib Thoracic Dysplasia 7 Without Polydactyly 6
Short Rib-Polydactyly Syndrome, Type V; Srps5 57
Short Rib-Polydactyly Syndrome Type 5 59
Short Rib-Polydactyly Syndrome Type V 75
Short Rib-Polydactyly Syndrom Type V 12
Srps Type V 75
Srtd7/20 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
short-rib thoracic dysplasia 7 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 cleft lip/palate and ellis-van creveld 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 is Signaling by Hedgehog. Affiliated tissues include bone, kidney and eye, 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)

Related Diseases for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

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

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Chest External Features:
narrow chest

Head And Neck Head:
dolichocephaly
scalp edema

Head And Neck Neck:
cystic hygroma

Skeletal Hands:
brachydactyly
syndactyly
postaxial polydactyly
hypoplastic distal phalanges

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

Head And Neck Mouth:
short lingual frenulum
high-arched palate
cleft palate, posterior
accessory labial frenulae
labiogingival frenulum hypertrophy
more
Head And Neck Teeth:
small teeth
hypoplastic enamel
missing teeth
fused teeth

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

Respiratory Lung:
hypoplastic lungs

Abdomen Pancreas:
pancreatic dysgenesis

Abdomen Gastrointestinal:
gastrointestinal malrotation

Abdomen External Features:
ascites

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

Prenatal Manifestations:
hydrops fetalis

Abdomen Liver:
hepatic fibrosis

Skin Nails Hair Hair:
fine hair
sparse hair

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

Head And Neck Eyes:
epicanthal folds
sparse to absent eyebrows

Skin Nails Hair Nails:
dysplastic nails

Skeletal Pelvis:
flat acetabular roofs

Genitourinary External Genitalia Male:
hypospadias, mild

Abdomen Spleen:
splenic dysgenesis

Skin Nails Hair Skin:
skin edema


Clinical features from OMIM:

614091

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

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 INTU 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 Polydactyly Syndrome 5 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:

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

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

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

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

75
# 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

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

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR35 NM_020779.3(WDR35): c.307+214_436+1120del deletion Pathogenic GRCh37 Chromosome 2, 20177392: 20180238
2 WDR35 NM_020779.3(WDR35): c.307+214_436+1120del deletion Pathogenic GRCh38 Chromosome 2, 19977631: 19980477
3 WDR35 NM_001006657.1(WDR35): c.1633C> T (p.Arg545Ter) single nucleotide variant Pathogenic rs387907085 GRCh37 Chromosome 2, 20146256: 20146256
4 WDR35 NM_001006657.1(WDR35): c.1633C> T (p.Arg545Ter) single nucleotide variant Pathogenic rs387907085 GRCh38 Chromosome 2, 19946495: 19946495
5 WDR35 NM_001006657.1(WDR35): c.781T> C (p.Trp261Arg) single nucleotide variant Pathogenic rs431905505 GRCh37 Chromosome 2, 20173425: 20173425
6 WDR35 NM_001006657.1(WDR35): c.781T> C (p.Trp261Arg) single nucleotide variant Pathogenic rs431905505 GRCh38 Chromosome 2, 19973664: 19973664
7 WDR35 NM_001006657.1(WDR35): c.1922T> G (p.Leu641Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199952377 GRCh37 Chromosome 2, 20141557: 20141557
8 WDR35 NM_001006657.1(WDR35): c.1922T> G (p.Leu641Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199952377 GRCh38 Chromosome 2, 19941796: 19941796
9 WDR35 NM_001006657.1(WDR35): c.2599G> T (p.Val867Phe) single nucleotide variant Benign/Likely benign rs149667250 GRCh37 Chromosome 2, 20133254: 20133254
10 WDR35 NM_001006657.1(WDR35): c.2599G> T (p.Val867Phe) single nucleotide variant Benign/Likely benign rs149667250 GRCh38 Chromosome 2, 19933493: 19933493
11 WDR35 NM_001006657.1(WDR35): c.2182A> G (p.Ile728Val) single nucleotide variant Benign/Likely benign rs144493712 GRCh37 Chromosome 2, 20137622: 20137622
12 WDR35 NM_001006657.1(WDR35): c.2182A> G (p.Ile728Val) single nucleotide variant Benign/Likely benign rs144493712 GRCh38 Chromosome 2, 19937861: 19937861
13 WDR35 NM_001006657.1(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 GRCh37 Chromosome 2, 20173436: 20173436
14 WDR35 NM_001006657.1(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 GRCh38 Chromosome 2, 19973675: 19973675
15 WDR35 NM_001006657.1(WDR35): c.2099G> A (p.Arg700His) single nucleotide variant Conflicting interpretations of pathogenicity rs74470618 GRCh37 Chromosome 2, 20137705: 20137705
16 WDR35 NM_001006657.1(WDR35): c.2099G> A (p.Arg700His) single nucleotide variant Conflicting interpretations of pathogenicity rs74470618 GRCh38 Chromosome 2, 19937944: 19937944
17 WDR35 NM_001006657.1(WDR35): c.3031G> T (p.Glu1011Ter) single nucleotide variant Pathogenic rs886043316 GRCh37 Chromosome 2, 20130280: 20130280
18 WDR35 NM_001006657.1(WDR35): c.3031G> T (p.Glu1011Ter) single nucleotide variant Pathogenic rs886043316 GRCh38 Chromosome 2, 19930519: 19930519
19 WDR35 NM_001006657.1(WDR35): c.1501delC (p.Gln501Lysfs) deletion Likely pathogenic rs886044119 GRCh37 Chromosome 2, 20151178: 20151178
20 WDR35 NM_001006657.1(WDR35): c.1501delC (p.Gln501Lysfs) deletion Likely pathogenic rs886044119 GRCh38 Chromosome 2, 19951417: 19951417
21 WDR35 NM_001006657.1(WDR35): c.549C> T (p.Tyr183=) single nucleotide variant Benign/Likely benign rs34169020 GRCh38 Chromosome 2, 19975551: 19975551
22 WDR35 NM_001006657.1(WDR35): c.549C> T (p.Tyr183=) single nucleotide variant Benign/Likely benign rs34169020 GRCh37 Chromosome 2, 20175312: 20175312
23 WDR35 NM_001006657.1(WDR35): c.932G> T (p.Trp311Leu) single nucleotide variant Pathogenic rs200649783 GRCh38 Chromosome 2, 19969556: 19969556
24 WDR35 NM_001006657.1(WDR35): c.932G> T (p.Trp311Leu) single nucleotide variant Pathogenic rs200649783 GRCh37 Chromosome 2, 20169317: 20169317
25 WDR35 NM_001006657.1(WDR35): c.1879-30_1881del deletion Likely pathogenic GRCh37 Chromosome 2, 20141598: 20141630
26 WDR35 NM_001006657.1(WDR35): c.1879-30_1881del deletion Likely pathogenic GRCh38 Chromosome 2, 19941837: 19941869
27 WDR35 NM_001006657.1(WDR35): c.1281T> G (p.Ile427Met) single nucleotide variant Likely benign rs144701688 GRCh37 Chromosome 2, 20160322: 20160322
28 WDR35 NM_001006657.1(WDR35): c.1281T> G (p.Ile427Met) single nucleotide variant Likely benign rs144701688 GRCh38 Chromosome 2, 19960561: 19960561
29 WDR35 NM_001006657.1(WDR35): c.666T> A (p.Pro222=) single nucleotide variant Likely benign rs987346249 GRCh37 Chromosome 2, 20174299: 20174299
30 WDR35 NM_001006657.1(WDR35): c.666T> A (p.Pro222=) single nucleotide variant Likely benign rs987346249 GRCh38 Chromosome 2, 19974538: 19974538
31 WDR35 NM_001006657.1(WDR35): c.664C> G (p.Pro222Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 20174301: 20174301
32 WDR35 NM_001006657.1(WDR35): c.664C> G (p.Pro222Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 19974540: 19974540
33 WDR35 NM_001006657.1(WDR35): c.1788C> T (p.Val596=) single nucleotide variant Benign rs146130105 GRCh37 Chromosome 2, 20145637: 20145637
34 WDR35 NM_001006657.1(WDR35): c.1788C> T (p.Val596=) single nucleotide variant Benign rs146130105 GRCh38 Chromosome 2, 19945876: 19945876
35 WDR35 NM_001006657.1(WDR35): c.725A> G (p.Glu242Gly) single nucleotide variant Likely benign rs139543775 GRCh37 Chromosome 2, 20174240: 20174240
36 WDR35 NM_001006657.1(WDR35): c.725A> G (p.Glu242Gly) single nucleotide variant Likely benign rs139543775 GRCh38 Chromosome 2, 19974479: 19974479
37 WDR35 NM_001006657.1(WDR35): c.143-18T> A single nucleotide variant Pathogenic GRCh37 Chromosome 2, 20182313: 20182313
38 WDR35 NM_001006657.1(WDR35): c.143-18T> A single nucleotide variant Pathogenic GRCh38 Chromosome 2, 19982552: 19982552
39 INTU NM_015693.3(INTU): c.826C> T (p.Gln276Ter) single nucleotide variant Pathogenic rs373900644 GRCh37 Chromosome 4, 128584593: 128584593
40 INTU NM_015693.3(INTU): c.826C> T (p.Gln276Ter) single nucleotide variant Pathogenic rs373900644 GRCh38 Chromosome 4, 127663438: 127663438
41 WDR35 NM_001006657.1(WDR35): c.2613G> A (p.Met871Ile) single nucleotide variant Uncertain significance rs201443916 GRCh38 Chromosome 2, 19933479: 19933479
42 WDR35 NM_001006657.1(WDR35): c.2613G> A (p.Met871Ile) single nucleotide variant Uncertain significance rs201443916 GRCh37 Chromosome 2, 20133240: 20133240
43 WDR35 NM_001006657.1(WDR35): c.3378G> A (p.Leu1126=) single nucleotide variant Likely pathogenic rs746128772 GRCh38 Chromosome 2, 19914054: 19914054
44 WDR35 NM_001006657.1(WDR35): c.3378G> A (p.Leu1126=) single nucleotide variant Likely pathogenic rs746128772 GRCh37 Chromosome 2, 20113815: 20113815
45 WDR35 NM_001006657.1(WDR35): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs199840434 GRCh38 Chromosome 2, 19969494: 19969494
46 WDR35 NM_001006657.1(WDR35): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs199840434 GRCh37 Chromosome 2, 20169255: 20169255
47 WDR35 NM_001006657.1(WDR35): c.2162G> T (p.Arg721Leu) single nucleotide variant Uncertain significance rs370797645 GRCh38 Chromosome 2, 19937881: 19937881
48 WDR35 NM_001006657.1(WDR35): c.2162G> T (p.Arg721Leu) single nucleotide variant Uncertain significance rs370797645 GRCh37 Chromosome 2, 20137642: 20137642
49 WDR35 NM_001006657.1(WDR35): c.3431G> A (p.Gly1144Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 19913673: 19913673
50 WDR35 NM_001006657.1(WDR35): c.3431G> A (p.Gly1144Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 20113434: 20113434

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
11.16 INTU WDR35

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:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.96 INTU WDR35
2 ciliary basal body GO:0036064 8.62 INTU WDR35

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 8.96 INTU WDR35
2 cell projection organization GO:0030030 8.62 INTU WDR35

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

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