SRTD13
MCID: SHR083
MIFTS: 34

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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

Name: Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 56 12 73 29 6 15
Srtd13 56 12 73
Dysplasia, Short-Rib Thoracic, Type 13 with or Without Polydactyly 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
short-rib thoracic dysplasia 13 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 73 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, also known as srtd13, is related to short-rib thoracic dysplasia 6 with or without polydactyly and cerebellopontine angle tumor. 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.

More information from OMIM: 616300 PS208500

Related Diseases for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Diseases in the Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly family:

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 6 with or without polydactyly 9.9 CFAP410 CEP120
2 cerebellopontine angle tumor 9.8 KIAA0753 EXOSC1
3 short-rib thoracic dysplasia 1 with or without polydactyly 9.8 KIAA0753 CEP120
4 short-rib thoracic dysplasia 3 with or without polydactyly 9.6 CFAP410 CEP120
5 epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta 7.7 SLC13A5 KIAA0753 GNAS FOXM1 EXOSC1 CFAP410

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:



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

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 respiratory insufficiency 31 HP:0002093
3 coarse facial features 31 HP:0000280
4 macrotia 31 HP:0000400
5 cryptorchidism 31 HP:0000028
6 renal cyst 31 HP:0000107
7 midface retrusion 31 HP:0011800
8 cleft palate 31 HP:0000175
9 narrow chest 31 HP:0000774
10 patent ductus arteriosus 31 HP:0001643
11 cerebellar hypoplasia 31 HP:0001321
12 microphthalmia 31 HP:0000568
13 rhizomelia 31 HP:0008905
14 dandy-walker malformation 31 HP:0001305
15 anal atresia 31 HP:0002023
16 renal hypoplasia 31 HP:0000089
17 flat acetabular roof 31 HP:0003180
18 hypoplastic pelvis 31 HP:0008839
19 microretrognathia 31 HP:0000308
20 ambiguous genitalia 31 HP:0000062
21 encephalocele 31 HP:0002084
22 omphalocele 31 HP:0001539
23 pulmonary hypoplasia 31 HP:0002089
24 prominent nose 31 HP:0000448
25 squared iliac bones 31 HP:0003177
26 molar tooth sign on mri 31 HP:0002419
27 relative macrocephaly 31 HP:0004482
28 bell-shaped thorax 31 HP:0001591
29 cleft lip 31 HP:0410030
30 bifid tongue 31 HP:0010297
31 preaxial polydactyly 31 HP:0100258
32 natal tooth 31 HP:0000695
33 short ribs 31 HP:0000773
34 lobulated tongue 31 HP:0000180
35 horizontal ribs 31 HP:0000888
36 postaxial polydactyly 31 HP:0100259
37 hypoplastic facial bones 31 HP:0002692
38 unicoronal synostosis 31 HP:0011315

Symptoms via clinical synopsis from OMIM:

56
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

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
horizontal ribs

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

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

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

GenomeRNAi Phenotypes related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.5 EXOSC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.5 FOXM1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.5 EXOSC1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.5 EXOSC1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.5 EXOSC1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.5 EXOSC1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.5 FOXM1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.5 FOXM1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.5 FOXM1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.5 FOXM1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.5 FOXM1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.5 EXOSC1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.5 EXOSC1 FOXM1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.5 EXOSC1

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

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

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

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 29 CEP120

Anatomical Context for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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

40
Bone, Kidney, Eye, Brain, Heart, Liver, Pancreas

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

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

# Title Authors PMID Year
1
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 56 6
27208211 2016
2
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. 56 6
25361962 2015

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

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

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP120 NM_153223.3(CEP120):c.595G>C (p.Ala199Pro)SNV Pathogenic 189370 rs367600930 5:122734847-122734847 5:123399153-123399153
2 CEP120 NM_153223.3(CEP120):c.451C>T (p.Arg151Ter)SNV Pathogenic 446142 rs757499322 5:122748105-122748105 5:123412411-123412411
3 CEP120 NM_153223.3(CEP120):c.2924T>G (p.Ile975Ser)SNV Pathogenic 446143 rs1554098663 5:122682250-122682250 5:123346556-123346556
4 CEP120 NM_153223.3(CEP120):c.2323C>T (p.Gln775Ter)SNV Likely pathogenic 623651 rs759125480 5:122713103-122713103 5:123377409-123377409
5 CEP120 NM_153223.3(CEP120):c.226A>G (p.Lys76Glu)SNV Uncertain significance 623652 rs1311902826 5:122751799-122751799 5:123416105-123416105
6 CEP120 NM_153223.3(CEP120):c.2237G>A (p.Arg746Gln)SNV Uncertain significance 661929 5:122713189-122713189 5:123377495-123377495
7 CEP120 NM_153223.3(CEP120):c.1721G>A (p.Arg574His)SNV Uncertain significance 652583 5:122720687-122720687 5:123384993-123384993
8 CEP120 NM_153223.3(CEP120):c.1391A>T (p.His464Leu)SNV Uncertain significance 644511 5:122724165-122724165 5:123388471-123388471
9 CEP120 NM_153223.3(CEP120):c.1180C>T (p.Pro394Ser)SNV Uncertain significance 642185 5:122725693-122725693 5:123389999-123389999
10 CEP120 NM_153223.3(CEP120):c.802A>G (p.Lys268Glu)SNV Uncertain significance 662704 5:122729002-122729002 5:123393308-123393308
11 CEP120 NM_153223.3(CEP120):c.278G>A (p.Gly93Asp)SNV Uncertain significance 476165 rs1554106320 5:122751747-122751747 5:123416053-123416053
12 CEP120 NM_153223.3(CEP120):c.1274C>G (p.Ala425Gly)SNV Uncertain significance 542764 rs1196167686 5:122724282-122724282 5:123388588-123388588
13 CEP120 NM_153223.3(CEP120):c.2647C>T (p.Arg883Cys)SNV Uncertain significance 542763 rs140306974 5:122685717-122685717 5:123350023-123350023
14 CEP120 NM_153223.3(CEP120):c.1831C>G (p.Arg611Gly)SNV Uncertain significance 572777 rs150132498 5:122718709-122718709 5:123383015-123383015
15 CEP120 NM_153223.3(CEP120):c.1684A>G (p.Thr562Ala)SNV Uncertain significance 577784 rs147277049 5:122720724-122720724 5:123385030-123385030
16 CEP120 NM_153223.3(CEP120):c.469G>A (p.Ala157Thr)SNV Uncertain significance 566211 rs1379324177 5:122734973-122734973 5:123399279-123399279
17 CEP120 NM_153223.3(CEP120):c.409A>G (p.Lys137Glu)SNV Uncertain significance 571693 rs200983311 5:122748147-122748147 5:123412453-123412453
18 CEP120 NM_153223.3(CEP120):c.402C>T (p.Thr134=)SNV Likely benign 476167 rs143893793 5:122748154-122748154 5:123412460-123412460
19 CEP120 NM_153223.3(CEP120):c.2359-8T>ASNV Likely benign 476164 rs570367630 5:122708474-122708474 5:123372780-123372780
20 CEP120 NM_153223.3(CEP120):c.1671G>A (p.Leu557=)SNV Benign 476162 rs75289011 5:122720737-122720737 5:123385043-123385043

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

73
# Symbol AA change Variation ID SNP ID
1 CEP120 p.Ala199Pro VAR_073672 rs367600930

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

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

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

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

Cellular components related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centriole GO:0005814 8.62 KIAA0753 CEP120

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

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