SRTD19
MCID: SHR115
MIFTS: 23

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 58 12 76 6
Srtd19 58 76
Short-Rib Thoracic Dysplasia 19 Without Polydactyly 6

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
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 : 58 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)

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 bone, eye and brain, and related phenotypes are low-set ears and long philtrum

UniProtKB/Swiss-Prot : 76 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:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 very rare (1%) HP:0000369
2 long philtrum 33 very rare (1%) HP:0000343
3 micromelia 33 very rare (1%) HP:0002983
4 dolichocephaly 33 very rare (1%) HP:0000268
5 prominent occiput 33 very rare (1%) HP:0000269
6 ventricular septal defect 33 very rare (1%) HP:0001629
7 midface retrusion 33 very rare (1%) HP:0011800
8 generalized hypotonia 33 very rare (1%) HP:0001290
9 relative macrocephaly 33 very rare (1%) HP:0004482
10 short ribs 33 very rare (1%) HP:0000773
11 lateral clavicle hook 33 very rare (1%) HP:0000895
12 postaxial polydactyly 33 very rare (1%) HP:0100259
13 prominent forehead 33 HP:0011220
14 narrow chest 33 HP:0000774
15 respiratory distress 33 HP:0002098
16 respiratory failure 33 HP:0002878
17 brachydactyly 33 HP:0001156
18 pulmonary hypoplasia 33 HP:0002089
19 hypoplasia of the radius 33 HP:0002984
20 thoracic hypoplasia 33 HP:0005257
21 syndactyly 33 HP:0001159
22 hypoplastic ilia 33 HP:0000946
23 horizontal ribs 33 HP:0000888

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Head And Neck Face:
prominent forehead
long philtrum
midface hypoplasia

Head And Neck Head:
dolichocephaly
prominent occiput
relative macrocephaly

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

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 Nose:
depressed nasal bridge

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

Skeletal Skull:
dolichocephaly
prominent occiput
relative macrocephaly

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

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

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:

42
Bone, Eye, Brain, Kidney, Pancreas

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

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

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

76
# Symbol AA change Variation ID SNP ID
1 IFT81 p.Leu29Phe VAR_080485 rs751222088

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT81 NM_001143779.1(IFT81): c.1534C> T (p.Arg512Ter) single nucleotide variant Likely pathogenic rs200335504 GRCh38 Chromosome 12, 110192683: 110192683
2 IFT81 NM_001143779.1(IFT81): c.1534C> T (p.Arg512Ter) single nucleotide variant Likely pathogenic rs200335504 GRCh37 Chromosome 12, 110630488: 110630488
3 IFT81 NM_014055.3(IFT81): c.87G> C (p.Leu29Phe) single nucleotide variant Likely pathogenic rs751222088 GRCh37 Chromosome 12, 110565272: 110565272
4 IFT81 NM_014055.3(IFT81): c.87G> C (p.Leu29Phe) single nucleotide variant Likely pathogenic rs751222088 GRCh38 Chromosome 12, 110127467: 110127467
5 IFT81 NM_014055.3(IFT81): c.785T> G (p.Leu262Ter) single nucleotide variant Likely pathogenic rs576969206 GRCh38 Chromosome 12, 110143385: 110143385
6 IFT81 NM_014055.3(IFT81): c.785T> G (p.Leu262Ter) single nucleotide variant Likely pathogenic rs576969206 GRCh37 Chromosome 12, 110581190: 110581190
7 IFT81 NM_001143779.1(IFT81): c.1303_1305delCTT deletion Uncertain significance rs1555266475 GRCh37 Chromosome 12, 110618341: 110618343
8 IFT81 NM_001143779.1(IFT81): c.1303_1305delCTT deletion Uncertain significance rs1555266475 GRCh38 Chromosome 12, 110180536: 110180538
9 IFT81 NC_000012.11: g.110576651_110589026dup duplication Pathogenic GRCh37 Chromosome 12, 110576651: 110589026

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

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75 UMLS via Orphanet
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