MCID: SHR070
MIFTS: 23

Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Categories: Genetic diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 57 12 75 29 6 73
Srtd8 57 12 75
Srps6 57 12 75
Short Rib-Polydactyly Syndrome Type Vi 12 75
Dysplasia, Thoracic, Short-Rib, Type 8 with or Without Polydactyly ) 40
Short Rib-Polydactyly Syndrome, Type Vi; Srps6 57
Short Rib-Polydactyly Syndrome, Type Vi 57
Srps Type Vi 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
short-rib thoracic dysplasia 8 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 8 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). (615503)

MalaCards based summary : Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly, is also known as srtd8. An important gene associated with Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly is WDR60 (WD Repeat Domain 60). Affiliated tissues include bone, liver and brain, and related phenotypes are macrocephaly and failure to thrive

UniProtKB/Swiss-Prot : 75 Short-rib thoracic dysplasia 8 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 compound heterozygous mutation in the WDR60 gene on chromosome 7q36.

Related Diseases for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Growth Other:
failure to thrive

Growth Height:
short stature

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary External Genitalia Male:
ambiguous genitalia

Respiratory Lung:
pulmonary hypoplasia

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
handlebar clavicles (in some patients)

Skeletal Limbs:
bowed femurs
short long bones on prenatal ultrasound
conical epiphyses
hypoplastic trabecular bone

Abdomen Liver:
enlarged liver with ductal plate malformation
prominent bile duct plates

Skeletal Skull:
macrocephaly

Head And Neck Nose:
depressed nasal bridge

Skeletal Hands:
brachydactyly
syndactyly
preaxial polydactyly
postaxial polydactyly

Cardiovascular Heart:
ventricular septal defect

Abdomen Pancreas:
pancreatic fibrosis

Skeletal Feet:
syndactyly

Chest External Features:
narrow thorax

Skeletal Pelvis:
acetabular spurs

Genitourinary Kidneys:
dilation of renal tubules, mild
focal cystic changes


Clinical features from OMIM:

615503

Human phenotypes related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 failure to thrive 32 HP:0001508
3 depressed nasal bridge 32 HP:0005280
4 short stature 32 HP:0004322
5 narrow chest 32 HP:0000774
6 short long bone 32 HP:0003026
7 brachydactyly 32 HP:0001156
8 polyhydramnios 32 HP:0001561
9 ventricular septal defect 32 HP:0001629
10 ambiguous genitalia 32 HP:0000062
11 pancreatic fibrosis 32 HP:0100732
12 pulmonary hypoplasia 32 HP:0002089
13 femoral bowing 32 HP:0002980
14 syndactyly 32 HP:0001159
15 short ribs 32 HP:0000773
16 preaxial polydactyly 32 HP:0100258
17 postaxial polydactyly 32 HP:0100259
18 thoracic dysplasia 32 HP:0006644
19 acetabular spurs 32 HP:0010454

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 29 WDR60

Anatomical Context for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

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

Publications for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Variations for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

75
# Symbol AA change Variation ID SNP ID
1 WDR60 p.Thr749Met VAR_070197 rs587777065

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

6
(show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR60 NM_018051.4(WDR60): c.1891C> T (p.Gln631Ter) single nucleotide variant Pathogenic rs587777064 GRCh37 Chromosome 7, 158711530: 158711530
2 WDR60 NM_018051.4(WDR60): c.1891C> T (p.Gln631Ter) single nucleotide variant Pathogenic rs587777064 GRCh38 Chromosome 7, 158918839: 158918839
3 WDR60 NM_018051.4(WDR60): c.2246C> T (p.Thr749Met) single nucleotide variant Pathogenic rs587777065 GRCh37 Chromosome 7, 158716413: 158716413
4 WDR60 NM_018051.4(WDR60): c.2246C> T (p.Thr749Met) single nucleotide variant Pathogenic rs587777065 GRCh38 Chromosome 7, 158923722: 158923722
5 WDR60 NM_018051.4(WDR60): c.1703-3T> A single nucleotide variant Pathogenic rs587777066 GRCh37 Chromosome 7, 158706921: 158706921
6 WDR60 NM_018051.4(WDR60): c.1703-3T> A single nucleotide variant Pathogenic rs587777066 GRCh38 Chromosome 7, 158914230: 158914230
7 WDR60 NM_018051.4(WDR60): c.1162delT (p.Cys388Valfs) deletion Likely pathogenic GRCh37 Chromosome 7, 158695091: 158695091
8 WDR60 NM_018051.4(WDR60): c.1162delT (p.Cys388Valfs) deletion Likely pathogenic GRCh38 Chromosome 7, 158902400: 158902400
9 WDR60 NM_018051.4(WDR60): c.604C> G (p.Leu202Val) single nucleotide variant Benign rs73527702 GRCh38 Chromosome 7, 158879714: 158879714
10 WDR60 NM_018051.4(WDR60): c.604C> G (p.Leu202Val) single nucleotide variant Benign rs73527702 GRCh37 Chromosome 7, 158672405: 158672405
11 WDR60 NM_018051.4(WDR60): c.941C> T (p.Ala314Val) single nucleotide variant Benign rs139730326 GRCh37 Chromosome 7, 158679717: 158679717
12 WDR60 NM_018051.4(WDR60): c.941C> T (p.Ala314Val) single nucleotide variant Benign rs139730326 GRCh38 Chromosome 7, 158887026: 158887026
13 WDR60 NM_018051.4(WDR60): c.1922-4delC deletion Benign rs761406563 GRCh37 Chromosome 7, 158715064: 158715064
14 WDR60 NM_018051.4(WDR60): c.1922-4delC deletion Benign rs761406563 GRCh38 Chromosome 7, 158922373: 158922373
15 WDR60 NM_018051.4(WDR60): c.2385G> A (p.Leu795=) single nucleotide variant Benign rs61747095 GRCh38 Chromosome 7, 158926415: 158926415
16 WDR60 NM_018051.4(WDR60): c.2385G> A (p.Leu795=) single nucleotide variant Benign rs61747095 GRCh37 Chromosome 7, 158719106: 158719106
17 WDR60 NM_018051.4(WDR60): c.2418G> T (p.Gly806=) single nucleotide variant Benign rs11505215 GRCh37 Chromosome 7, 158719139: 158719139
18 WDR60 NM_018051.4(WDR60): c.2418G> T (p.Gly806=) single nucleotide variant Benign rs11505215 GRCh38 Chromosome 7, 158926448: 158926448
19 WDR60 NM_018051.4(WDR60): c.1685G> A (p.Ser562Asn) single nucleotide variant Benign rs143753088 GRCh37 Chromosome 7, 158705770: 158705770
20 WDR60 NM_018051.4(WDR60): c.1685G> A (p.Ser562Asn) single nucleotide variant Benign rs143753088 GRCh38 Chromosome 7, 158913079: 158913079
21 WDR60 NM_018051.4(WDR60): c.2371+4C> T single nucleotide variant Benign rs2286113 GRCh37 Chromosome 7, 158718995: 158718995
22 WDR60 NM_018051.4(WDR60): c.2371+4C> T single nucleotide variant Benign rs2286113 GRCh38 Chromosome 7, 158926304: 158926304
23 WDR60 NM_018051.4(WDR60): c.3169G> A (p.Ala1057Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 158738438: 158738438
24 WDR60 NM_018051.4(WDR60): c.3169G> A (p.Ala1057Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 158945747: 158945747
25 WDR60 NM_018051.4(WDR60): c.69+7A> G single nucleotide variant Likely benign GRCh37 Chromosome 7, 158662606: 158662606
26 WDR60 NM_018051.4(WDR60): c.69+7A> G single nucleotide variant Likely benign GRCh38 Chromosome 7, 158869915: 158869915
27 WDR60 NM_018051.4(WDR60): c.1800C> T (p.Ala600=) single nucleotide variant Benign rs41271220 GRCh37 Chromosome 7, 158711439: 158711439
28 WDR60 NM_018051.4(WDR60): c.1800C> T (p.Ala600=) single nucleotide variant Benign rs41271220 GRCh38 Chromosome 7, 158918748: 158918748
29 WDR60 NM_018051.4(WDR60): c.2395A> G (p.Ile799Val) single nucleotide variant Benign rs61733022 GRCh37 Chromosome 7, 158719116: 158719116
30 WDR60 NM_018051.4(WDR60): c.2395A> G (p.Ile799Val) single nucleotide variant Benign rs61733022 GRCh38 Chromosome 7, 158926425: 158926425
31 WDR60 NM_018051.4(WDR60): c.3077C> T (p.Ala1026Val) single nucleotide variant Uncertain significance rs370850399 GRCh37 Chromosome 7, 158738346: 158738346
32 WDR60 NM_018051.4(WDR60): c.3077C> T (p.Ala1026Val) single nucleotide variant Uncertain significance rs370850399 GRCh38 Chromosome 7, 158945655: 158945655
33 WDR60 NM_018051.4(WDR60): c.1791+5A> G single nucleotide variant Benign rs41271217 GRCh37 Chromosome 7, 158707017: 158707017
34 WDR60 NM_018051.4(WDR60): c.1791+5A> G single nucleotide variant Benign rs41271217 GRCh38 Chromosome 7, 158914326: 158914326
35 WDR60 NM_018051.4(WDR60): c.445C> T (p.Arg149Cys) single nucleotide variant Uncertain significance rs545206396 GRCh37 Chromosome 7, 158664208: 158664208
36 WDR60 NM_018051.4(WDR60): c.445C> T (p.Arg149Cys) single nucleotide variant Uncertain significance rs545206396 GRCh38 Chromosome 7, 158871517: 158871517
37 WDR60 NM_018051.4(WDR60): c.785A> G (p.Lys262Arg) single nucleotide variant Uncertain significance rs138438967 GRCh37 Chromosome 7, 158672586: 158672586
38 WDR60 NM_018051.4(WDR60): c.785A> G (p.Lys262Arg) single nucleotide variant Uncertain significance rs138438967 GRCh38 Chromosome 7, 158879895: 158879895
39 WDR60 NM_018051.4(WDR60): c.1370C> A (p.Ser457Tyr) single nucleotide variant Benign rs144444098 GRCh37 Chromosome 7, 158698692: 158698692
40 WDR60 NM_018051.4(WDR60): c.1370C> A (p.Ser457Tyr) single nucleotide variant Benign rs144444098 GRCh38 Chromosome 7, 158906001: 158906001
41 WDR60 NM_018051.4(WDR60): c.2768C> A (p.Pro923Gln) single nucleotide variant Likely benign rs73167274 GRCh37 Chromosome 7, 158727230: 158727230
42 WDR60 NM_018051.4(WDR60): c.2768C> A (p.Pro923Gln) single nucleotide variant Likely benign rs73167274 GRCh38 Chromosome 7, 158934539: 158934539
43 WDR60 NM_018051.4(WDR60): c.105G> A (p.Lys35=) single nucleotide variant Likely benign rs748373806 GRCh38 Chromosome 7, 158871177: 158871177
44 WDR60 NM_018051.4(WDR60): c.105G> A (p.Lys35=) single nucleotide variant Likely benign rs748373806 GRCh37 Chromosome 7, 158663868: 158663868
45 WDR60 NM_018051.4(WDR60): c.1465C> G (p.Arg489Gly) single nucleotide variant Benign rs116193143 GRCh37 Chromosome 7, 158704245: 158704245
46 WDR60 NM_018051.4(WDR60): c.1465C> G (p.Arg489Gly) single nucleotide variant Benign rs116193143 GRCh38 Chromosome 7, 158911554: 158911554

Expression for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

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GO Terms for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

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