MCID: SHR100
MIFTS: 22

Short-Rib Thoracic Dysplasia 15 with Polydactyly

Categories: Genetic diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 15 with Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 15 with Polydactyly:

Name: Short-Rib Thoracic Dysplasia 15 with Polydactyly 57 75 29 6
Srtd15 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present
extreme variability in severity inter- and intrafamilial


HPO:

32
short-rib thoracic dysplasia 15 with polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 15 with 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). SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family. For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500). (617088)

MalaCards based summary : Short-Rib Thoracic Dysplasia 15 with Polydactyly, also known as srtd15, is related to sitosterolemia. An important gene associated with Short-Rib Thoracic Dysplasia 15 with Polydactyly is DYNC2LI1 (Dynein Cytoplasmic 2 Light Intermediate Chain 1). Affiliated tissues include bone, kidney and liver, and related phenotypes are epicanthus and low-set ears

UniProtKB/Swiss-Prot : 75 Short-rib thoracic dysplasia 15 with 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 15 with Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 15 with Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sitosterolemia 9.0 ABCG5 DYNC2LI1

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 15 with Polydactyly

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Cardiovascular Vascular:
patent ductus arteriosus
aortic coarctation

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Nails:
nail dysplasia

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
horizontal ribs
long narrow thorax
high, short clavicles

Cardiovascular Heart:
atrioventricular septal defect
hypoplastic left ventricle
atrioventricular canal defect, partial

Skeletal Feet:
polydactyly, postaxial

Skeletal Limbs:
shortened long bones
irregular metaphyseal borders with lateral spikes (seen in fetuses)

Head And Neck Mouth:
midline cleft or notched lip
multiple oral frenula
sublingual hamartoma

Respiratory Lung:
respiratory distress syndrome

Abdomen Liver:
hepatomegaly

Skeletal Hands:
brachydactyly
polydactyly, postaxial
cone-shaped epiphyses of phalangeal bones

Head And Neck Teeth:
hypodontia
supernumerary teeth

Genitourinary Internal Genitalia Female:
vaginal atresia
hydrometrocolpos

Growth Height:
short stature (in some patients)

Chest External Features:
small chest

Genitourinary Kidneys:
horseshoe kidneys

Skeletal Spine:
short pedicles
congenital stenosis of spinal canal
wedging of vertebral bodies at thoracolumbar junction
multiple disc herniations

Respiratory Larynx:
agenesis or hypoplasia of epiglottis

Skeletal:
lack of ossification of some skeletal elements


Clinical features from OMIM:

617088

Human phenotypes related to Short-Rib Thoracic Dysplasia 15 with Polydactyly:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 epicanthus 32 HP:0000286
2 low-set ears 32 HP:0000369
3 downslanted palpebral fissures 32 HP:0000494
4 short ribs 32 HP:0000773
5 horizontal ribs 32 HP:0000888
6 postaxial hand polydactyly 32 HP:0001162
7 polyhydramnios 32 HP:0001561
8 splenomegaly 32 HP:0001744
9 hepatomegaly 32 HP:0002240
10 short stature 32 HP:0004322
11 depressed nasal bridge 32 HP:0005280
12 atrioventricular canal defect 32 HP:0006695

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 15 with Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 15 with Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 15 with Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 15 with Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 15 with Polydactyly 29 DYNC2LI1

Anatomical Context for Short-Rib Thoracic Dysplasia 15 with Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 15 with Polydactyly:

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

Publications for Short-Rib Thoracic Dysplasia 15 with Polydactyly

Variations for Short-Rib Thoracic Dysplasia 15 with Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 15 with Polydactyly:

75
# Symbol AA change Variation ID SNP ID
1 DYNC2LI1 p.Leu117Val VAR_077814 rs201948500
2 DYNC2LI1 p.Thr220Ile VAR_077815 rs886037860

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 15 with Polydactyly:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYNC2LI1 NM_016008.3(DYNC2LI1): c.349C> G (p.Leu117Val) single nucleotide variant Pathogenic rs201948500 GRCh37 Chromosome 2, 44021624: 44021624
2 DYNC2LI1 NM_016008.3(DYNC2LI1): c.349C> G (p.Leu117Val) single nucleotide variant Pathogenic rs201948500 GRCh38 Chromosome 2, 43794485: 43794485
3 DYNC2LI1 NM_016008.3(DYNC2LI1): c.372G> A (p.Trp124Ter) single nucleotide variant Pathogenic rs769975073 GRCh37 Chromosome 2, 44021647: 44021647
4 DYNC2LI1 NM_016008.3(DYNC2LI1): c.372G> A (p.Trp124Ter) single nucleotide variant Pathogenic rs769975073 GRCh38 Chromosome 2, 43794508: 43794508
5 DYNC2LI1 NM_016008.3(DYNC2LI1): c.993+1G> A single nucleotide variant Pathogenic rs374356079 GRCh37 Chromosome 2, 44032386: 44032386
6 DYNC2LI1 NM_016008.3(DYNC2LI1): c.993+1G> A single nucleotide variant Pathogenic rs374356079 GRCh38 Chromosome 2, 43805247: 43805247
7 DYNC2LI1 NM_016008.3(DYNC2LI1): c.993+3A> G single nucleotide variant Pathogenic rs879255656 GRCh37 Chromosome 2, 44032388: 44032388
8 DYNC2LI1 NM_016008.3(DYNC2LI1): c.993+3A> G single nucleotide variant Pathogenic rs879255656 GRCh38 Chromosome 2, 43805249: 43805249
9 DYNC2LI1 NM_016008.3(DYNC2LI1): c.1000G> T (p.Glu334Ter) single nucleotide variant Pathogenic rs879255655 GRCh37 Chromosome 2, 44036850: 44036850
10 DYNC2LI1 NM_016008.3(DYNC2LI1): c.1000G> T (p.Glu334Ter) single nucleotide variant Pathogenic rs879255655 GRCh38 Chromosome 2, 43809711: 43809711
11 DYNC2LI1 NM_001193464.1(DYNC2LI1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs745930390 GRCh37 Chromosome 2, 44023899: 44023899
12 DYNC2LI1 NM_001193464.1(DYNC2LI1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs745930390 GRCh38 Chromosome 2, 43796760: 43796760
13 DYNC2LI1 NM_001193464.1(DYNC2LI1): c.662C> T (p.Thr221Ile) single nucleotide variant Pathogenic rs886037860 GRCh37 Chromosome 2, 44027984: 44027984
14 DYNC2LI1 NM_001193464.1(DYNC2LI1): c.662C> T (p.Thr221Ile) single nucleotide variant Pathogenic rs886037860 GRCh38 Chromosome 2, 43800845: 43800845
15 DYNC2LI1 NM_016008.3(DYNC2LI1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs200859699 GRCh37 Chromosome 2, 44001279: 44001279
16 DYNC2LI1 NM_016008.3(DYNC2LI1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs200859699 GRCh38 Chromosome 2, 43774140: 43774140
17 DYNC2LI1 NM_016008.3(DYNC2LI1): c.420delA (p.Val141Terfs) deletion Pathogenic GRCh38 Chromosome 2, 43794556: 43794556
18 DYNC2LI1 NM_016008.3(DYNC2LI1): c.420delA (p.Val141Terfs) deletion Pathogenic GRCh37 Chromosome 2, 44021695: 44021695
19 DYNC2LI1 NM_016008.3(DYNC2LI1): c.123_124insA (p.Gly42Argfs) insertion Pathogenic GRCh38 Chromosome 2, 43776896: 43776897
20 DYNC2LI1 NM_016008.3(DYNC2LI1): c.123_124insA (p.Gly42Argfs) insertion Pathogenic GRCh37 Chromosome 2, 44004035: 44004036
21 DYNC2LI1 NM_016008.3(DYNC2LI1): c.655-11delT deletion Pathogenic rs752971070 GRCh37 Chromosome 2, 44027969: 44027969
22 DYNC2LI1 NM_016008.3(DYNC2LI1): c.655-11delT deletion Pathogenic rs752971070 GRCh38 Chromosome 2, 43800830: 43800830

Expression for Short-Rib Thoracic Dysplasia 15 with Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 15 with Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 15 with Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 15 with Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 15 with Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 8.62 ABCG5 DYNC2LI1

Sources for Short-Rib Thoracic Dysplasia 15 with Polydactyly

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