SRTD19
MCID: SHR115
MIFTS: 26

Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly (SRTD19)

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 57 12 72 29 6
Srtd19 57 72
Dysplasia, Thoracic, Short-Rib, Type 19 with or Without Polydactyly 39
Short-Rib Thoracic Dysplasia 19 Without Polydactyly 6

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy or early childhood
based on report of 2 unrelated male patients (last curated february 2018)


HPO:

31
short-rib thoracic dysplasia 19 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 19 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 with or without polydactyly, see SRTD1 (208500). (617895) (Updated 20-May-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly, is also known as srtd19. An important gene associated with Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly is IFT81 (Intraflagellar Transport 81). Affiliated tissues include eye and pancreas, and related phenotypes are prominent occiput and low-set ears

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the IFT81 gene on chromosome 12q24.

UniProtKB/Swiss-Prot : 72 Short-rib thoracic dysplasia 19 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.

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 prominent occiput 31 very rare (1%) HP:0000269
2 low-set ears 31 very rare (1%) HP:0000369
3 dolichocephaly 31 very rare (1%) HP:0000268
4 long philtrum 31 very rare (1%) HP:0000343
5 ventricular septal defect 31 very rare (1%) HP:0001629
6 micromelia 31 very rare (1%) HP:0002983
7 midface retrusion 31 very rare (1%) HP:0011800
8 relative macrocephaly 31 very rare (1%) HP:0004482
9 generalized hypotonia 31 very rare (1%) HP:0001290
10 short ribs 31 very rare (1%) HP:0000773
11 lateral clavicle hook 31 very rare (1%) HP:0000895
12 postaxial polydactyly 31 very rare (1%) HP:0100259
13 depressed nasal bridge 31 HP:0005280
14 prominent forehead 31 HP:0011220
15 brachydactyly 31 HP:0001156
16 proptosis 31 HP:0000520
17 narrow chest 31 HP:0000774
18 ambiguous genitalia 31 HP:0000062
19 omphalocele 31 HP:0001539
20 respiratory failure 31 HP:0002878
21 hypoplasia of the radius 31 HP:0002984
22 respiratory distress 31 HP:0002098
23 pulmonary hypoplasia 31 HP:0002089
24 thoracic hypoplasia 31 HP:0005257
25 hypoplastic ilia 31 HP:0000946
26 horizontal ribs 31 HP:0000888
27 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Nose:
depressed nasal bridge

Head And Neck Head:
prominent occiput
dolichocephaly
relative macrocephaly

Head And Neck Ears:
low-set ears

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

Respiratory Lung:
pulmonary hypoplasia

Skeletal Limbs:
short long bones
curved long bones
hypoplasia of long bones
rounded metaphyses

Neurologic Central Nervous System:
global hypotonia

Skeletal Pelvis:
small iliac bones (in 1 patient)

Head And Neck Face:
prominent forehead
long philtrum
midface hypoplasia

Skeletal Skull:
prominent occiput
dolichocephaly
relative macrocephaly

Skeletal Hands:
brachydactyly
postaxial polydactyly (in 1 patient)
syndactyly (in 1 patient)

Abdomen External Features:
omphalocele

Head And Neck Eyes:
prominent eyes

Cardiovascular Heart:
ventricular septal defect (in 1 patient)

Genitourinary External Genitalia Male:
ambiguous genitalia (in 1 patient)

Skeletal Feet:
postaxial polydactyly (in 1 patient)
syndactyly (in 1 patient)

Clinical features from OMIM®:

617895 (Updated 20-May-2021)

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 29 IFT81

Anatomical Context for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly:

40
Eye, Pancreas

Publications for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly:

# Title Authors PMID Year
1
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. 57 6
27666822 2016
2
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
3
Ciliary disorder of the skeleton. 57
22791528 2012
4
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. 61
32783357 2020

Variations for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFT81 NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter) SNV Pathogenic 495121 rs200335504 GRCh37: 12:110630488-110630488
GRCh38: 12:110192683-110192683
2 IFT81 NM_014055.4(IFT81):c.87G>C (p.Leu29Phe) SNV Pathogenic 495122 rs751222088 GRCh37: 12:110565272-110565272
GRCh38: 12:110127467-110127467
3 IFT81 Duplication Pathogenic 560182 GRCh37: 12:110576651-110589026
GRCh38:
4 IFT81 NM_014055.4(IFT81):c.1441C>T (p.Arg481Ter) SNV Pathogenic 956773 GRCh37: 12:110628827-110628827
GRCh38: 12:110191022-110191022
5 IFT81 NM_014055.4(IFT81):c.1729C>T (p.Gln577Ter) SNV Pathogenic 1033257 GRCh37: 12:110643412-110643412
GRCh38: 12:110205607-110205607
6 IFT81 NM_014055.4(IFT81):c.723_724del (p.Arg242fs) Deletion Pathogenic 834402 GRCh37: 12:110574606-110574607
GRCh38: 12:110136801-110136802
7 IFT81 NM_014055.4(IFT81):c.785T>G (p.Leu262Ter) SNV Likely pathogenic 495123 rs576969206 GRCh37: 12:110581190-110581190
GRCh38: 12:110143385-110143385
8 IFT81 NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter) SNV Likely pathogenic 495121 rs200335504 GRCh37: 12:110630488-110630488
GRCh38: 12:110192683-110192683
9 IFT81 NM_014055.4(IFT81):c.87G>C (p.Leu29Phe) SNV Likely pathogenic 495122 rs751222088 GRCh37: 12:110565272-110565272
GRCh38: 12:110127467-110127467
10 IFT81 NM_014055.4(IFT81):c.1717-2A>G SNV Likely pathogenic 1027824 GRCh37: 12:110643398-110643398
GRCh38: 12:110205593-110205593
11 IFT81 NM_014055.4(IFT81):c.1300_1302CTT[1] (p.Leu435del) Microsatellite Uncertain significance 495124 rs1555266475 GRCh37: 12:110618338-110618340
GRCh38: 12:110180533-110180535

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly:

72
# Symbol AA change Variation ID SNP ID
1 IFT81 p.Leu29Phe VAR_080485 rs751222088

Expression for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Sources for Short-Rib Thoracic Dysplasia 19 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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