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

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 57 12 74 29 6
Srtd13 57 12 74
Dysplasia, Short-Rib Thoracic, Type 13 with or Without Polydactyly 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
short-rib thoracic dysplasia 13 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110093
MeSH 44 D012779
ICD10 33 Q77.2

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

UniProtKB/Swiss-Prot : 74 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 brain, 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

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:

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

Symptoms via clinical synopsis from OMIM:

57
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

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:

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

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

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

(showing 2, show less)
# Title Authors PMID Year
1
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 8 71
27208211 2016
2
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. 8 71
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 (showing 26, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CEP120 NM_153223.3(CEP120): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic rs757499322 5:122748105-122748105 5:123412411-123412411
2 CEP120 NM_153223.3(CEP120): c.2924T> G (p.Ile975Ser) single nucleotide variant Pathogenic rs1554098663 5:122682250-122682250 5:123346556-123346556
3 CEP120 NM_153223.3(CEP120): c.595G> C (p.Ala199Pro) single nucleotide variant Pathogenic rs367600930 5:122734847-122734847 5:123399153-123399153
4 CEP120 NM_153223.3(CEP120): c.2323C> T (p.Gln775Ter) single nucleotide variant Likely pathogenic 5:122713103-122713103 5:123377409-123377409
5 CEP120 NM_153223.3(CEP120): c.226A> G (p.Lys76Glu) single nucleotide variant Uncertain significance 5:122751799-122751799 5:123416105-123416105
6 CEP120 NM_153223.3(CEP120): c.2237G> A (p.Arg746Gln) single nucleotide variant Uncertain significance 5:122713189-122713189 5:123377495-123377495
7 CEP120 NM_153223.3(CEP120): c.1721G> A (p.Arg574His) single nucleotide variant Uncertain significance 5:122720687-122720687 5:123384993-123384993
8 CEP120 NM_153223.3(CEP120): c.1391A> T (p.His464Leu) single nucleotide variant Uncertain significance 5:122724165-122724165 5:123388471-123388471
9 CEP120 NM_153223.3(CEP120): c.1180C> T (p.Pro394Ser) single nucleotide variant Uncertain significance 5:122725693-122725693 5:123389999-123389999
10 CEP120 NM_153223.3(CEP120): c.802A> G (p.Lys268Glu) single nucleotide variant Uncertain significance 5:122729002-122729002 5:123393308-123393308
11 CEP120 NM_153223.3(CEP120): c.2647C> T (p.Arg883Cys) single nucleotide variant Uncertain significance rs140306974 5:122685717-122685717 5:123350023-123350023
12 CEP120 NM_153223.3(CEP120): c.1831C> G (p.Arg611Gly) single nucleotide variant Uncertain significance 5:122718709-122718709 5:123383015-123383015
13 CEP120 NM_153223.3(CEP120): c.1684A> G (p.Thr562Ala) single nucleotide variant Uncertain significance 5:122720724-122720724 5:123385030-123385030
14 CEP120 NM_153223.3(CEP120): c.469G> A (p.Ala157Thr) single nucleotide variant Uncertain significance 5:122734973-122734973 5:123399279-123399279
15 CEP120 NM_153223.3(CEP120): c.409A> G (p.Lys137Glu) single nucleotide variant Uncertain significance 5:122748147-122748147 5:123412453-123412453
16 CEP120 NM_153223.3(CEP120): c.278G> A (p.Gly93Asp) single nucleotide variant Uncertain significance rs1554106320 5:122751747-122751747 5:123416053-123416053
17 CEP120 NM_153223.3(CEP120): c.1274C> G (p.Ala425Gly) single nucleotide variant Uncertain significance rs1196167686 5:122724282-122724282 5:123388588-123388588
18 CEP120 NM_153223.3(CEP120): c.402C> T (p.Thr134=) single nucleotide variant Likely benign rs143893793 5:122748154-122748154 5:123412460-123412460
19 CEP120 NM_153223.3(CEP120): c.2359-8T> A single nucleotide variant Likely benign rs570367630 5:122708474-122708474 5:123372780-123372780
20 CEP120 NM_153223.3(CEP120): c.1671G> A (p.Leu557=) single nucleotide variant Benign rs75289011 5:122720737-122720737 5:123385043-123385043
21 CEP120 NM_153223.3(CEP120): c.1105C> T (p.Pro369Ser) single nucleotide variant Benign rs61747983 5:122725768-122725768 5:123390074-123390074
22 CEP120 NM_153223.3(CEP120): c.2134C> T (p.Leu712Phe) single nucleotide variant Benign rs114280473 5:122714092-122714092 5:123378398-123378398
23 CEP120 NM_153223.3(CEP120): c.1431-10_1431-9del deletion Benign rs1491225681 5:122722370-122722371 5:123386676-123386677
24 CEP120 NM_153223.3(CEP120): c.2145T> C (p.Thr715=) single nucleotide variant Benign rs113911260 5:122714081-122714081 5:123378387-123378387
25 CEP120 NM_153223.3(CEP120): c.362A> G (p.Lys121Arg) single nucleotide variant Benign rs147273517 5:122748194-122748194 5:123412500-123412500
26 CEP120 NM_153223.3(CEP120): c.2182A> G (p.Ser728Gly) single nucleotide variant Benign rs61744334 5:122714044-122714044 5:123378350-123378350

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

74 (showing 1, show less)
# 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

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

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

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