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SRTD13
MCID: SHR083
MIFTS: 27

Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly (SRTD13)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Publications Symptoms & Phenotypes
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Aliases & Classifications for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 58 12 76 30 6
Srtd13 58 12 76
Dysplasia, Short-Rib Thoracic, Type 13 with or Without Polydactyly 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
death occurs early in neonatal period due to respiratory failure
fetal death may occur


HPO:

33
short-rib thoracic dysplasia 13 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Respiratory diseases Bone diseases Nephrological diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 34


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Summaries for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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UniProtKB/Swiss-Prot : 76 Short-rib thoracic dysplasia 13 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.

MalaCards based summary : Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly, is also known as srtd13. An important gene associated with Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly is CEP120 (Centrosomal Protein 120). Affiliated tissues include bone, kidney and eye, and related phenotypes are hypertelorism and respiratory insufficiency

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.

Description from OMIM: 616300
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Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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Human phenotypes related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

33 (show all 37)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 respiratory insufficiency 33 HP:0002093
3 coarse facial features 33 HP:0000280
4 macrotia 33 HP:0000400
5 cleft palate 33 HP:0000175
6 narrow chest 33 HP:0000774
7 patent ductus arteriosus 33 HP:0001643
8 cryptorchidism 33 HP:0000028
9 cerebellar hypoplasia 33 HP:0001321
10 microphthalmia 33 HP:0000568
11 rhizomelia 33 HP:0008905
12 renal hypoplasia 33 HP:0000089
13 midface retrusion 33 HP:0011800
14 flat acetabular roof 33 HP:0003180
15 hypoplastic pelvis 33 HP:0008839
16 microretrognathia 33 HP:0000308
17 ambiguous genitalia 33 HP:0000062
18 dandy-walker malformation 33 HP:0001305
19 encephalocele 33 HP:0002084
20 omphalocele 33 HP:0001539
21 pulmonary hypoplasia 33 HP:0002089
22 prominent nose 33 HP:0000448
23 squared iliac bones 33 HP:0003177
24 renal cyst 33 HP:0000107
25 molar tooth sign on mri 33 HP:0002419
26 relative macrocephaly 33 HP:0004482
27 bell-shaped thorax 33 HP:0001591
28 bifid tongue 33 HP:0010297
29 natal tooth 33 HP:0000695
30 short ribs 33 HP:0000773
31 lobulated tongue 33 HP:0000180
32 preaxial polydactyly 33 HP:0100258
33 cleft lip 33 HP:0410030
34 hypoplastic facial bones 33 HP:0002692
35 postaxial polydactyly 33 HP:0100259
36 horizontal ribs 33 HP:0000888
37 unicoronal synostosis 33 HP:0011315

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
microphthalmia
scant eyebrows

Head And Neck Mouth:
cleft palate
mild cleft lip (notch)
tongue hamartoma (lobulated tongue)
partially bifid tongue
multiple lingual frenula

Neurologic Central Nervous System:
cerebellar hypoplasia
dandy-walker malformation
molar tooth sign
unilateral coronal craniosynostosis
prominent and widened anterior and posterior fontanels
more
Head And Neck Face:
microretrognathia
midface hypoplasia
coarse facies

Abdomen External Features:
omphalocele

Chest External Features:
bell-shaped thorax
narrow thorax

Skeletal Hands:
preaxial polydactyly
synpolydactyly
postaxial polydactyly (unilateral, in 1 patient)
severely hypoplastic middle and distal phalanges

Skeletal Limbs:
rhizomelic limb shortening
micromelic short limbs
round-ended femur bones
small tibia
small fibula

Head And Neck Teeth:
natal teeth

Head And Neck Nose:
large nose
prominent nostrils

Skeletal Feet:
synpolydactyly
hallux deformity

Skeletal Skull:
small facial bones

Respiratory Lung:
respiratory insufficiency
hypoplastic lungs

Cardiovascular Vascular:
patent ductus arteriosus

Abdomen Gastrointestinal:
anal atresia

Genitourinary External Genitalia Male:
ambiguous genitalia
phallus-like structure
prominent prepuce

Head And Neck Head:
relative macrocephaly

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
horizontal ribs

Head And Neck Ears:
large ears
prominent lobules

Genitourinary Kidneys:
small kidneys
cystic kidneys
increased echogenicity on ultrasound

Skeletal Pelvis:
small pelvis
horizontal acetabular roof
dysplastic pelvic bone
flaring of iliac bones
small, squared iliac bones
more
Genitourinary Internal Genitalia Male:
undescended testes

Growth Height:
short stature at birth

Clinical features from OMIM:

616300
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Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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Genetic Tests for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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Genetic tests related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 30 CEP120
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Anatomical Context for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

42
Bone, Kidney, Eye, Brain, Heart, Tongue, Pancreas
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Publications for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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Articles related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

# Title Authors Year
1
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. ( 27208211 )
2016
2
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. ( 25361962 )
2015
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Variations for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

76
# Symbol AA change Variation ID SNP ID
1 CEP120 p.Ala199Pro VAR_073672 rs367600930

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP120 NM_153223.3(CEP120): c.595G> C (p.Ala199Pro) single nucleotide variant Pathogenic rs367600930 GRCh38 Chromosome 5, 123399153: 123399153
2 CEP120 NM_153223.3(CEP120): c.595G> C (p.Ala199Pro) single nucleotide variant Pathogenic rs367600930 GRCh37 Chromosome 5, 122734847: 122734847
3 CEP120 NM_153223.3(CEP120): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic rs757499322 GRCh38 Chromosome 5, 123412411: 123412411
4 CEP120 NM_153223.3(CEP120): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic rs757499322 GRCh37 Chromosome 5, 122748105: 122748105
5 CEP120 NM_153223.3(CEP120): c.2924T> G (p.Ile975Ser) single nucleotide variant Pathogenic rs1554098663 GRCh38 Chromosome 5, 123346556: 123346556
6 CEP120 NM_153223.3(CEP120): c.2924T> G (p.Ile975Ser) single nucleotide variant Pathogenic rs1554098663 GRCh37 Chromosome 5, 122682250: 122682250
7 CEP120 NM_153223.3(CEP120): c.2134C> T (p.Leu712Phe) single nucleotide variant Benign rs114280473 GRCh38 Chromosome 5, 123378398: 123378398
8 CEP120 NM_153223.3(CEP120): c.2134C> T (p.Leu712Phe) single nucleotide variant Benign rs114280473 GRCh37 Chromosome 5, 122714092: 122714092
9 CEP120 NM_153223.3(CEP120): c.1431-10_1431-9delTA deletion Benign rs1491225681 GRCh38 Chromosome 5, 123386676: 123386677
10 CEP120 NM_153223.3(CEP120): c.1431-10_1431-9delTA deletion Benign rs1491225681 GRCh37 Chromosome 5, 122722370: 122722371
11 CEP120 NM_153223.3(CEP120): c.402C> T (p.Thr134=) single nucleotide variant Likely benign rs143893793 GRCh38 Chromosome 5, 123412460: 123412460
12 CEP120 NM_153223.3(CEP120): c.402C> T (p.Thr134=) single nucleotide variant Likely benign rs143893793 GRCh37 Chromosome 5, 122748154: 122748154
13 CEP120 NM_153223.3(CEP120): c.2359-8T> A single nucleotide variant Likely benign rs570367630 GRCh38 Chromosome 5, 123372780: 123372780
14 CEP120 NM_153223.3(CEP120): c.2359-8T> A single nucleotide variant Likely benign rs570367630 GRCh37 Chromosome 5, 122708474: 122708474
15 CEP120 NM_153223.3(CEP120): c.1671G> A (p.Leu557=) single nucleotide variant Benign rs75289011 GRCh38 Chromosome 5, 123385043: 123385043
16 CEP120 NM_153223.3(CEP120): c.1671G> A (p.Leu557=) single nucleotide variant Benign rs75289011 GRCh37 Chromosome 5, 122720737: 122720737
17 CEP120 NM_153223.3(CEP120): c.1105C> T (p.Pro369Ser) single nucleotide variant Benign rs61747983 GRCh38 Chromosome 5, 123390074: 123390074
18 CEP120 NM_153223.3(CEP120): c.1105C> T (p.Pro369Ser) single nucleotide variant Benign rs61747983 GRCh37 Chromosome 5, 122725768: 122725768
19 CEP120 NM_153223.3(CEP120): c.278G> A (p.Gly93Asp) single nucleotide variant Uncertain significance rs1554106320 GRCh38 Chromosome 5, 123416053: 123416053
20 CEP120 NM_153223.3(CEP120): c.278G> A (p.Gly93Asp) single nucleotide variant Uncertain significance rs1554106320 GRCh37 Chromosome 5, 122751747: 122751747
21 CEP120 NM_153223.3(CEP120): c.362A> G (p.Lys121Arg) single nucleotide variant Benign rs147273517 GRCh38 Chromosome 5, 123412500: 123412500
22 CEP120 NM_153223.3(CEP120): c.362A> G (p.Lys121Arg) single nucleotide variant Benign rs147273517 GRCh37 Chromosome 5, 122748194: 122748194
23 CEP120 NM_153223.3(CEP120): c.2182A> G (p.Ser728Gly) single nucleotide variant Benign rs61744334 GRCh38 Chromosome 5, 123378350: 123378350
24 CEP120 NM_153223.3(CEP120): c.2182A> G (p.Ser728Gly) single nucleotide variant Benign rs61744334 GRCh37 Chromosome 5, 122714044: 122714044
25 CEP120 NM_153223.3(CEP120): c.1274C> G (p.Ala425Gly) single nucleotide variant Uncertain significance rs1196167686 GRCh38 Chromosome 5, 123388588: 123388588
26 CEP120 NM_153223.3(CEP120): c.1274C> G (p.Ala425Gly) single nucleotide variant Uncertain significance rs1196167686 GRCh37 Chromosome 5, 122724282: 122724282
27 CEP120 NM_153223.3(CEP120): c.2145T> C (p.Thr715=) single nucleotide variant Benign rs113911260 GRCh37 Chromosome 5, 122714081: 122714081
28 CEP120 NM_153223.3(CEP120): c.2145T> C (p.Thr715=) single nucleotide variant Benign rs113911260 GRCh38 Chromosome 5, 123378387: 123378387
29 CEP120 NM_153223.3(CEP120): c.2647C> T (p.Arg883Cys) single nucleotide variant Uncertain significance rs140306974 GRCh38 Chromosome 5, 123350023: 123350023
30 CEP120 NM_153223.3(CEP120): c.2647C> T (p.Arg883Cys) single nucleotide variant Uncertain significance rs140306974 GRCh37 Chromosome 5, 122685717: 122685717
31 CEP120 NM_153223.3(CEP120): c.1831C> G (p.Arg611Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 123383015: 123383015
32 CEP120 NM_153223.3(CEP120): c.1831C> G (p.Arg611Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 122718709: 122718709
33 CEP120 NM_153223.3(CEP120): c.1684A> G (p.Thr562Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 122720724: 122720724
34 CEP120 NM_153223.3(CEP120): c.1684A> G (p.Thr562Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 123385030: 123385030
35 CEP120 NM_153223.3(CEP120): c.469G> A (p.Ala157Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 123399279: 123399279
36 CEP120 NM_153223.3(CEP120): c.469G> A (p.Ala157Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 122734973: 122734973
37 CEP120 NM_153223.3(CEP120): c.409A> G (p.Lys137Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 122748147: 122748147
38 CEP120 NM_153223.3(CEP120): c.409A> G (p.Lys137Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 123412453: 123412453
39 CEP120 NM_153223.3(CEP120): c.2323C> T (p.Gln775Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 122713103: 122713103
40 CEP120 NM_153223.3(CEP120): c.2323C> T (p.Gln775Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 123377409: 123377409
41 CEP120 NM_153223.3(CEP120): c.226A> G (p.Lys76Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 122751799: 122751799
42 CEP120 NM_153223.3(CEP120): c.226A> G (p.Lys76Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 123416105: 123416105
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Expression for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly.
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Pathways for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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GO Terms for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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Sources for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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