SRTD16
MCID: SHR101
MIFTS: 25

Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly (SRTD16)

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 57 72 29 6
Srtd16 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on reports of one indian girl and two fetuses (last curated august 2016)


HPO:

31
short-rib thoracic dysplasia 16 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 16 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). (617102) (Updated 05-Apr-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly, is also known as srtd16. An important gene associated with Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly is IFT52 (Intraflagellar Transport 52). Affiliated tissues include eye, pancreas and bone, and related phenotypes are postaxial polydactyly and depressed nasal bridge

UniProtKB/Swiss-Prot : 72 Short-rib thoracic dysplasia 16 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 16 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 postaxial polydactyly 31 occasional (7.5%) HP:0100259
2 depressed nasal bridge 31 HP:0005280
3 widely spaced teeth 31 HP:0000687
4 wide nasal bridge 31 HP:0000431
5 carious teeth 31 HP:0000670
6 short stature 31 HP:0004322
7 full cheeks 31 HP:0000293
8 short thorax 31 HP:0010306
9 low-set ears 31 HP:0000369
10 motor delay 31 HP:0001270
11 dolichocephaly 31 HP:0000268
12 brachydactyly 31 HP:0001156
13 sandal gap 31 HP:0001852
14 telecanthus 31 HP:0000506
15 high forehead 31 HP:0000348
16 narrow chest 31 HP:0000774
17 short distal phalanx of finger 31 HP:0009882
18 midface retrusion 31 HP:0011800
19 short metacarpal 31 HP:0010049
20 hypoplasia of the corpus callosum 31 HP:0002079
21 respiratory distress 31 HP:0002098
22 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
23 protuberant abdomen 31 HP:0001538
24 limb undergrowth 31 HP:0009826
25 short metatarsal 31 HP:0010743
26 flat acetabular roof 31 HP:0003180
27 hypermetropia 31 HP:0000540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Growth Height:
short stature

Chest External Features:
short thorax
narrow thorax

Neurologic Central Nervous System:
motor delay
hypoplastic corpus callosum

Skeletal Hands:
brachydactyly
short metacarpals
hypoplastic distal phalanges
cone-shaped epiphyses of phalanges
postaxial polydactyly (in some patients)
more
Head And Neck Eyes:
telecanthus
hypermetropia
progressively decreasing peripheral vision
salt-and-pepper fundus

Abdomen External Features:
protuberant abdomen

Skeletal Limbs:
short limbs
reverse campomelia of humeri
mildly bent femurs
short disorganized hypertrophic zone of cartilage growth plate
irregular margin at transition between cartilage and bone

Head And Neck Mouth:
thick everted vermillion of upper and lower lips

Head And Neck Teeth:
carious teeth
small widely spaced teeth

Head And Neck Face:
full cheeks
midface hypoplasia
tall forehead

Head And Neck Ears:
low-set ears

Head And Neck Head:
dolichocephaly

Skeletal Feet:
brachydactyly
sandal gap
short phalanges
short metatarsals

Respiratory Lung:
respiratory distress

Skeletal Pelvis:
flat acetabular roof

Chest Ribs Sternum Clavicles And Scapulae:
shortened ribs
sharp angulations of some lower thoracic ribs

Skeletal Skull:
undermineralized skull (prenatal)

Clinical features from OMIM®:

617102 (Updated 05-Apr-2021)

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 29 IFT52

Anatomical Context for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

40
Eye, Pancreas, Bone

Publications for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

# Title Authors PMID Year
1
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. 6 57
31042281 2019
2
IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration. 6 57
30242358 2018
3
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. 6 57
26880018 2016
4
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. 6 57
27466190 2016
5
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
6
Ciliary disorder of the skeleton. 57
22791528 2012

Variations for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFT52 NM_016004.5(IFT52):c.878del (p.Leu293fs) Deletion Pathogenic 253308 rs886037870 GRCh37: 20:42252640-42252640
GRCh38: 20:43624000-43624000
2 IFT52 NM_016004.5(IFT52):c.424C>T (p.Arg142Ter) SNV Pathogenic 253306 rs748090019 GRCh37: 20:42233652-42233652
GRCh38: 20:43605012-43605012
3 IFT52 NM_016004.5(IFT52):c.595G>A (p.Ala199Thr) SNV Pathogenic 253307 rs886037869 GRCh37: 20:42242599-42242599
GRCh38: 20:43613959-43613959
4 IFT52 NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr) Indel Pathogenic 983487 GRCh37: 20:42247662-42247666
GRCh38: 20:43619022-43619026
5 IFT52 NM_016004.5(IFT52):c.556A>G (p.Thr186Ala) SNV Pathogenic 983488 GRCh37: 20:42242560-42242560
GRCh38: 20:43613920-43613920
6 IFT52 NM_016004.5(IFT52):c.293A>G (p.Asn98Ser) SNV Pathogenic 983489 GRCh37: 20:42232485-42232485
GRCh38: 20:43603845-43603845
7 IFT52 NM_016004.5(IFT52):c.429del (p.Ala144fs) Deletion Pathogenic 997547 GRCh37: 20:42233657-42233657
GRCh38: 20:43605017-43605017

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

72
# Symbol AA change Variation ID SNP ID
1 IFT52 p.Ala199Thr VAR_077805 rs886037869

Expression for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Sources for Short-Rib Thoracic Dysplasia 16 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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