MCID: SHR071
MIFTS: 24

Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Categories: Genetic diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 57 12 75 29 6 73
Srtd11 57 12 75
Dysplasia, Thoracic, Short-Rib, Type 11 with or Without Polydactyly 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
most patients die in the neonatal period due to respiratory insufficiency


HPO:

32
short-rib thoracic dysplasia 11 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 11 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 (see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (615633)

MalaCards based summary : Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly, is also known as srtd11. An important gene associated with Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly is WDR34 (WD Repeat Domain 34). Affiliated tissues include bone, liver and pancreas, and related phenotypes are cryptorchidism and nephrocalcinosis

UniProtKB/Swiss-Prot : 75 Short-rib thoracic dysplasia 11 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.

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.

Related Diseases for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
respiratory insufficiency
recurrent respiratory infections

Chest External Features:
bell-shaped thorax
long, narrow thorax

Skeletal Limbs:
short long bones
mild bowing of humeri and femora

Chest Ribs Sternum Clavicles And Scapulae:
short, horizontal ribs
handlebar clavicles

Growth Weight:
obesity (rare)

Skeletal Pelvis:
trident acetabulum with spurs
squared iliac wings
irregular sciatic notches

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (rare)

Skeletal Hands:
brachydactyly
postaxial polydactyly (rare)

Genitourinary Kidneys:
nephrocalcinosis (rare)
dilated renal pelvis (rare)
dilated calyces (rare)

GenitourinaryInternal GenitaliaMale:
cryptorchidism (rare)

Abdomen External Features:
protruding abdomen

Head And Neck Eyes:
rod-cone dystrophy (rare)

Neurologic Central Nervous System:
speech and language delay (rare)


Clinical features from OMIM:

615633

Human phenotypes related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 occasional (7.5%) HP:0000028
2 nephrocalcinosis 32 occasional (7.5%) HP:0000121
3 rod-cone dystrophy 32 occasional (7.5%) HP:0000510
4 delayed speech and language development 32 occasional (7.5%) HP:0000750
5 narrow chest 32 HP:0000774
6 horizontal ribs 32 HP:0000888
7 brachydactyly 32 HP:0001156
8 obesity 32 occasional (7.5%) HP:0001513
9 polyhydramnios 32 occasional (7.5%) HP:0001561
10 bell-shaped thorax 32 HP:0001591
11 respiratory insufficiency 32 HP:0002093
12 recurrent respiratory infections 32 HP:0002205
13 short long bone 32 HP:0003026
14 thoracic dysplasia 32 HP:0006644
15 postaxial polydactyly 32 occasional (7.5%) HP:0100259

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 29 WDR34

Anatomical Context for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

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

Publications for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Variations for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

75
# Symbol AA change Variation ID SNP ID
1 WDR34 p.Cys148Phe VAR_070963
2 WDR34 p.Ala341Val VAR_070965 rs587777091
3 WDR34 p.Thr354Met VAR_070966 rs587777092
4 WDR34 p.Pro390Leu VAR_070967
5 WDR34 p.Gly393Ser VAR_070968 rs587777096
6 WDR34 p.Ser410Ile VAR_070969
7 WDR34 p.Lys436Arg VAR_070970 rs587777098
8 WDR34 p.Arg447Gln VAR_070971 rs587777094
9 WDR34 p.Arg447Trp VAR_070972 rs587777093

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly:

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR34 NM_052844.3(WDR34): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs587777091 GRCh37 Chromosome 9, 131397160: 131397160
2 WDR34 NM_052844.3(WDR34): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs587777091 GRCh38 Chromosome 9, 128634881: 128634881
3 WDR34 NM_052844.3(WDR34): c.1061C> T (p.Thr354Met) single nucleotide variant Pathogenic rs587777092 GRCh37 Chromosome 9, 131397121: 131397121
4 WDR34 NM_052844.3(WDR34): c.1061C> T (p.Thr354Met) single nucleotide variant Pathogenic rs587777092 GRCh38 Chromosome 9, 128634842: 128634842
5 WDR34 NM_052844.3(WDR34): c.1339C> T (p.Arg447Trp) single nucleotide variant Pathogenic rs587777093 GRCh37 Chromosome 9, 131396538: 131396538
6 WDR34 NM_052844.3(WDR34): c.1339C> T (p.Arg447Trp) single nucleotide variant Pathogenic rs587777093 GRCh38 Chromosome 9, 128634259: 128634259
7 WDR34 NM_052844.3(WDR34): c.1340G> A (p.Arg447Gln) single nucleotide variant Pathogenic rs587777094 GRCh37 Chromosome 9, 131396537: 131396537
8 WDR34 NM_052844.3(WDR34): c.1340G> A (p.Arg447Gln) single nucleotide variant Pathogenic rs587777094 GRCh38 Chromosome 9, 128634258: 128634258
9 WDR34 NM_052844.3(WDR34): c.982-2A> C single nucleotide variant Pathogenic rs587777095 GRCh37 Chromosome 9, 131397202: 131397202
10 WDR34 NM_052844.3(WDR34): c.982-2A> C single nucleotide variant Pathogenic rs587777095 GRCh38 Chromosome 9, 128634923: 128634923
11 WDR34 NM_052844.3(WDR34): c.1177G> A (p.Gly393Ser) single nucleotide variant Pathogenic rs587777096 GRCh37 Chromosome 9, 131397005: 131397005
12 WDR34 NM_052844.3(WDR34): c.1177G> A (p.Gly393Ser) single nucleotide variant Pathogenic rs587777096 GRCh38 Chromosome 9, 128634726: 128634726
13 WDR34 NM_052844.3(WDR34): c.1541_1542delCA (p.Thr514Argfs) deletion Pathogenic rs431905519 GRCh37 Chromosome 9, 131396092: 131396093
14 WDR34 NM_052844.3(WDR34): c.1541_1542delCA (p.Thr514Argfs) deletion Pathogenic rs431905519 GRCh38 Chromosome 9, 128633813: 128633814
15 WDR34 NM_052844.3(WDR34): c.472C> T (p.Gln158Ter) single nucleotide variant Pathogenic rs587777097 GRCh37 Chromosome 9, 131399270: 131399270
16 WDR34 NM_052844.3(WDR34): c.472C> T (p.Gln158Ter) single nucleotide variant Pathogenic rs587777097 GRCh38 Chromosome 9, 128636991: 128636991
17 WDR34 NM_052844.3(WDR34): c.1307A> G (p.Lys436Arg) single nucleotide variant Pathogenic rs587777098 GRCh37 Chromosome 9, 131396570: 131396570
18 WDR34 NM_052844.3(WDR34): c.1307A> G (p.Lys436Arg) single nucleotide variant Pathogenic rs587777098 GRCh38 Chromosome 9, 128634291: 128634291
19 WDR34 NM_052844.3(WDR34): c.630G> A (p.Pro210=) single nucleotide variant Benign rs61744155 GRCh38 Chromosome 9, 128636354: 128636354
20 WDR34 NM_052844.3(WDR34): c.630G> A (p.Pro210=) single nucleotide variant Benign rs61744155 GRCh37 Chromosome 9, 131398633: 131398633
21 WDR34 NM_052844.3(WDR34): c.1146C> T (p.Ala382=) single nucleotide variant Likely benign rs762641265 GRCh37 Chromosome 9, 131397036: 131397036
22 WDR34 NM_052844.3(WDR34): c.1146C> T (p.Ala382=) single nucleotide variant Likely benign rs762641265 GRCh38 Chromosome 9, 128634757: 128634757
23 WDR34 NM_052844.3(WDR34): c.1008C> T (p.Gly336=) single nucleotide variant Benign rs146077746 GRCh37 Chromosome 9, 131397174: 131397174
24 WDR34 NM_052844.3(WDR34): c.1008C> T (p.Gly336=) single nucleotide variant Benign rs146077746 GRCh38 Chromosome 9, 128634895: 128634895
25 WDR34 NM_052844.3(WDR34): c.187-3C> A single nucleotide variant Benign rs12380424 GRCh38 Chromosome 9, 128640942: 128640942
26 WDR34 NM_052844.3(WDR34): c.187-3C> A single nucleotide variant Benign rs12380424 GRCh37 Chromosome 9, 131403221: 131403221
27 WDR34 NM_052844.3(WDR34): c.1372+10G> C single nucleotide variant Likely benign rs1023019503 GRCh37 Chromosome 9, 131396495: 131396495
28 WDR34 NM_052844.3(WDR34): c.1372+10G> C single nucleotide variant Likely benign rs1023019503 GRCh38 Chromosome 9, 128634216: 128634216
29 WDR34 NM_052844.3(WDR34): c.1066G> A (p.Gly356Ser) single nucleotide variant Benign rs17849504 GRCh37 Chromosome 9, 131397116: 131397116
30 WDR34 NM_052844.3(WDR34): c.1066G> A (p.Gly356Ser) single nucleotide variant Benign rs17849504 GRCh38 Chromosome 9, 128634837: 128634837
31 WDR34 NM_052844.3(WDR34): c.957G> A (p.Leu319=) single nucleotide variant Benign rs75450756 GRCh37 Chromosome 9, 131397395: 131397395
32 WDR34 NM_052844.3(WDR34): c.957G> A (p.Leu319=) single nucleotide variant Benign rs75450756 GRCh38 Chromosome 9, 128635116: 128635116
33 WDR34 NM_052844.3(WDR34): c.1424T> C (p.Leu475Ser) single nucleotide variant Uncertain significance rs748451019 GRCh38 Chromosome 9, 128633931: 128633931
34 WDR34 NM_052844.3(WDR34): c.1424T> C (p.Leu475Ser) single nucleotide variant Uncertain significance rs748451019 GRCh37 Chromosome 9, 131396210: 131396210
35 WDR34 NM_052844.3(WDR34): c.888A> G (p.Leu296=) single nucleotide variant Benign rs140034879 GRCh38 Chromosome 9, 128635185: 128635185
36 WDR34 NM_052844.3(WDR34): c.888A> G (p.Leu296=) single nucleotide variant Benign rs140034879 GRCh37 Chromosome 9, 131397464: 131397464
37 WDR34 NM_052844.3(WDR34): c.1506T> C (p.Asp502=) single nucleotide variant Likely benign rs1054532891 GRCh38 Chromosome 9, 128633849: 128633849
38 WDR34 NM_052844.3(WDR34): c.1506T> C (p.Asp502=) single nucleotide variant Likely benign rs1054532891 GRCh37 Chromosome 9, 131396128: 131396128

Expression for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.62 SPTAN1 WDR34

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