MCID: SHR104
MIFTS: 18

Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Categories: Genetic diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 57 75 29 6
Srtd17 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
evidence of reduced penetrance in 1 family


HPO:

32
short-rib thoracic dysplasia 17 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617405
MeSH 44 D012779

Summaries for Short-Rib Thoracic Dysplasia 17 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). (617405)

MalaCards based summary : Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly, is also known as srtd17. An important gene associated with Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly is TCTEX1D2 (Tctex1 Domain Containing 2). Affiliated tissues include liver, pancreas and kidney, and related phenotypes are brachydactyly and short stature

UniProtKB/Swiss-Prot : 75 Short-rib thoracic dysplasia 17 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.

Related Diseases for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Chest Ribs Sternum Clavicles And Scapulae:
short horizontal ribs

Skeletal Hands:
brachydactyly
polydactyly (in some patients)

Chest External Features:
narrow thorax

Skeletal Pelvis:
trident acetabulum with spurs

Skeletal Feet:
polydactyly (in some patients)


Clinical features from OMIM:

617405

Human phenotypes related to Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly:

32
# Description HPO Frequency HPO Source Accession
1 brachydactyly 32 HP:0001156
2 short stature 32 HP:0004322
3 polydactyly 32 occasional (7.5%) HP:0010442

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 29 TCTEX1D2

Anatomical Context for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly:

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

Publications for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Variations for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TCTEX1D2 NM_152773.4(TCTEX1D2): c.113+2C> G single nucleotide variant Pathogenic rs1056574154 GRCh38 Chromosome 3, 196318038: 196318038
2 TCTEX1D2 NM_152773.4(TCTEX1D2): c.113+2C> G single nucleotide variant Pathogenic rs1056574154 GRCh37 Chromosome 3, 196044909: 196044909
3 TCTEX1D2 NM_152773.4(TCTEX1D2): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs771373235 GRCh38 Chromosome 3, 196306998: 196306998
4 TCTEX1D2 NM_152773.4(TCTEX1D2): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs771373235 GRCh37 Chromosome 3, 196033869: 196033869
5 TCTEX1D2 NM_152773.4(TCTEX1D2): c.100delGinsCT (p.Val34Leufs) indel Pathogenic rs1060505043 GRCh38 Chromosome 3, 196318053: 196318053
6 TCTEX1D2 NM_152773.4(TCTEX1D2): c.100delGinsCT (p.Val34Leufs) indel Pathogenic rs1060505043 GRCh37 Chromosome 3, 196044924: 196044924

Expression for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

Sources for Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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