MCID: SHR083
MIFTS: 22

Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Categories: Genetic 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 75 29 6
Srtd13 57 12 75
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:



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

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 616300

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

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

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

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
GenitourinaryInternal GenitaliaMale:
undescended testes

Growth Height:
short stature at birth


Clinical features from OMIM:

616300

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

32 (show all 24)
# 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 narrow chest 32 HP:0000774
6 patent ductus arteriosus 32 HP:0001643
7 cryptorchidism 32 HP:0000028
8 renal hypoplasia 32 HP:0000089
9 midface retrusion 32 HP:0011800
10 flat acetabular roof 32 HP:0003180
11 hypoplastic pelvis 32 HP:0008839
12 microretrognathia 32 HP:0000308
13 ambiguous genitalia 32 HP:0000062
14 omphalocele 32 HP:0001539
15 prominent nose 32 HP:0000448
16 pulmonary hypoplasia 32 HP:0002089
17 relative macrocephaly 32 HP:0004482
18 bell-shaped thorax 32 HP:0001591
19 natal tooth 32 HP:0000695
20 short ribs 32 HP:0000773
21 preaxial polydactyly 32 HP:0100258
22 hypoplastic facial bones 32 HP:0002692
23 horizontal ribs 32 HP:0000888
24 unicoronal synostosis 32 HP:0011315

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, Eye, Pancreas

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

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

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

75
# 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 30)
# 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 GRCh38 Chromosome 5, 123346556: 123346556
6 CEP120 NM_153223.3(CEP120): c.2924T> G (p.Ile975Ser) single nucleotide variant Pathogenic 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 rs200329211 GRCh37 Chromosome 5, 122722370: 122722371
10 CEP120 NM_153223.3(CEP120): c.1431-10_1431-9delTA deletion Benign rs200329211 GRCh38 Chromosome 5, 123386676: 123386677
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 GRCh38 Chromosome 5, 123416053: 123416053
20 CEP120 NM_153223.3(CEP120): c.278G> A (p.Gly93Asp) single nucleotide variant Uncertain significance 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 GRCh37 Chromosome 5, 122724282: 122724282
26 CEP120 NM_153223.3(CEP120): c.1274C> G (p.Ala425Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 123388588: 123388588
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

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

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

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