SRTD19
MCID: SHR115
MIFTS: 24

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 75 6
Srtd19 57 75
Short-Rib Thoracic Dysplasia 19 Without Polydactyly 6

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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)

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 prominent forehead

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 very rare (1%) HP:0000369
2 prominent forehead 32 HP:0011220
3 long philtrum 32 very rare (1%) HP:0000343
4 narrow chest 32 HP:0000774
5 respiratory distress 32 HP:0002098
6 micromelia 32 very rare (1%) HP:0002983
7 dolichocephaly 32 very rare (1%) HP:0000268
8 prominent occiput 32 very rare (1%) HP:0000269
9 respiratory failure 32 HP:0002878
10 brachydactyly 32 HP:0001156
11 ventricular septal defect 32 very rare (1%) HP:0001629
12 midface retrusion 32 very rare (1%) HP:0011800
13 pulmonary hypoplasia 32 HP:0002089
14 generalized hypotonia 32 very rare (1%) HP:0001290
15 hypoplasia of the radius 32 HP:0002984
16 thoracic hypoplasia 32 HP:0005257
17 relative macrocephaly 32 very rare (1%) HP:0004482
18 syndactyly 32 HP:0001159
19 hypoplastic ilia 32 HP:0000946
20 short ribs 32 very rare (1%) HP:0000773
21 lateral clavicle hook 32 very rare (1%) HP:0000895
22 postaxial polydactyly 32 very rare (1%) HP:0100259
23 horizontal ribs 32 HP:0000888

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:

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

75
# 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_014055.3(IFT81): c.1534C> T (p.Arg512Ter) single nucleotide variant Pathogenic rs200335504 GRCh38 Chromosome 12, 110192683: 110192683
2 IFT81 NM_014055.3(IFT81): c.1534C> T (p.Arg512Ter) single nucleotide variant Pathogenic rs200335504 GRCh37 Chromosome 12, 110630488: 110630488
3 IFT81 NM_014055.3(IFT81): c.87G> C (p.Leu29Phe) single nucleotide variant Pathogenic rs751222088 GRCh37 Chromosome 12, 110565272: 110565272
4 IFT81 NM_014055.3(IFT81): c.87G> C (p.Leu29Phe) single nucleotide variant Pathogenic rs751222088 GRCh38 Chromosome 12, 110127467: 110127467
5 IFT81 NM_014055.3(IFT81): c.785T> G (p.Leu262Ter) single nucleotide variant Pathogenic rs576969206 GRCh38 Chromosome 12, 110143385: 110143385
6 IFT81 NM_014055.3(IFT81): c.785T> G (p.Leu262Ter) single nucleotide variant Pathogenic rs576969206 GRCh37 Chromosome 12, 110581190: 110581190
7 IFT81 NM_014055.3(IFT81): c.1303_1305delCTT (p.Leu435del) deletion Pathogenic GRCh37 Chromosome 12, 110618341: 110618343
8 IFT81 NM_014055.3(IFT81): c.1303_1305delCTT (p.Leu435del) deletion Pathogenic GRCh38 Chromosome 12, 110180536: 110180538

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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74 UMLS via Orphanet
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