MCID: SHR085
MIFTS: 23

Short-Rib Thoracic Dysplasia 14 with Polydactyly

Categories: Genetic diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 14 with Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 14 with Polydactyly:

Name: Short-Rib Thoracic Dysplasia 14 with Polydactyly 57 12 75 29 6
Srtd14 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
affected fetuses frequently undergo spontaneous abortion
variable phenotypic features cataloged depending on development of fetus or infant
term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support


HPO:

32
short-rib thoracic dysplasia 14 with polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 14 with 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). (616546)

MalaCards based summary : Short-Rib Thoracic Dysplasia 14 with Polydactyly, also known as srtd14, is related to joubert syndrome 23. An important gene associated with Short-Rib Thoracic Dysplasia 14 with Polydactyly is KIAA0586 (KIAA0586). Affiliated tissues include brain, eye and pancreas, and related phenotypes are micropenis and cleft palate

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.

UniProtKB/Swiss-Prot : 75 Short-rib thoracic dysplasia 14 with 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.

Related Diseases for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 14 with Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 joubert syndrome 23 9.0 KIAA0586 TIMM9

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
dysplastic ears
no response to acoustic stimuli
no recognizable waves on brainstem auditory evoked potential test

Head And Neck Nose:
depressed nasal bridge

Skeletal Limbs:
micromelia
rounded ends of femurs

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary External Genitalia Male:
micropenis

Head And Neck Eyes:
retinal coloboma
no response to visual stimuli
small optic disc

Skeletal Feet:
preaxial polydactyly
postaxial polydactyly
preaxial polysyndactyly
hallux duplication

Respiratory Lung:
lung hypoplasia

Skeletal Skull:
occipital defect

Prenatal Manifestations:
hydrops fetalis (rare)

Head And Neck Neck:
short neck

Head And Neck Mouth:
cleft palate
multiple frenulae
multiple tongue hamartomas
hypoplastic gums

Cardiovascular Heart:
atrial septal defect

Neurologic Central Nervous System:
polymicrogyria
anencephaly
cerebellar vermis hypoplasia
generalized hypotonia
hydrocephaly
more
Chest Ribs Sternum Clavicles And Scapulae:
short ribs
absent clavicles

Skeletal Hands:
preaxial polydactyly
postaxial polydactyly
polysyndactyly
brachyphalangy (in some patients)

Head And Neck Teeth:
delayed dentition

Chest Diaphragm:
diaphragmatic hernia

Skeletal Pelvis:
wide flat iliac wing


Clinical features from OMIM:

616546

Human phenotypes related to Short-Rib Thoracic Dysplasia 14 with Polydactyly:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 micropenis 32 HP:0000054
2 cleft palate 32 HP:0000175
3 hydrocephalus 32 HP:0000238
4 low-set ears 32 HP:0000369
5 abnormality of the pinna 32 HP:0000377
6 short neck 32 HP:0000470
7 retinal coloboma 32 HP:0000480
8 short ribs 32 HP:0000773
9 narrow chest 32 HP:0000774
10 congenital diaphragmatic hernia 32 HP:0000776
11 hyporeflexia 32 HP:0001265
12 generalized hypotonia 32 HP:0001290
13 cerebellar vermis hypoplasia 32 HP:0001320
14 polyhydramnios 32 HP:0001561
15 atrial septal defect 32 HP:0001631
16 hydrops fetalis 32 occasional (7.5%) HP:0001789
17 pulmonary hypoplasia 32 HP:0002089
18 polymicrogyria 32 HP:0002126
19 anencephaly 32 HP:0002323
20 molar tooth sign on mri 32 HP:0002419
21 micromelia 32 HP:0002983
22 depressed nasal bridge 32 HP:0005280
23 aplastic clavicle 32 HP:0006660
24 preaxial polydactyly 32 HP:0100258
25 postaxial polydactyly 32 HP:0100259

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 14 with Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 14 with Polydactyly 29 KIAA0586

Anatomical Context for Short-Rib Thoracic Dysplasia 14 with Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 14 with Polydactyly:

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

Publications for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Variations for Short-Rib Thoracic Dysplasia 14 with Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 14 with Polydactyly:

6
(show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIAA0586 NM_001244189.1(KIAA0586): c.428delG (p.Arg143Lysfs) deletion Pathogenic rs534542684 GRCh38 Chromosome 14, 58432439: 58432439
2 KIAA0586 NM_001244189.1(KIAA0586): c.428delG (p.Arg143Lysfs) deletion Pathogenic rs534542684 GRCh37 Chromosome 14, 58899157: 58899157
3 KIAA0586 NM_001244189.1(KIAA0586): c.1413-1G> C single nucleotide variant Pathogenic rs757350052 GRCh38 Chromosome 14, 58456701: 58456701
4 KIAA0586 NM_001244189.1(KIAA0586): c.1413-1G> C single nucleotide variant Pathogenic rs757350052 GRCh37 Chromosome 14, 58923419: 58923419
5 KIAA0586 NM_001244189.1(KIAA0586): c.230C> G (p.Ser77Ter) single nucleotide variant Pathogenic rs797045119 GRCh38 Chromosome 14, 58428458: 58428458
6 KIAA0586 NM_001244189.1(KIAA0586): c.230C> G (p.Ser77Ter) single nucleotide variant Pathogenic rs797045119 GRCh37 Chromosome 14, 58895176: 58895176
7 KIAA0586 NM_001244189.1(KIAA0586): c.1815G> A (p.Gln605=) single nucleotide variant Pathogenic rs762081862 GRCh37 Chromosome 14, 58925263: 58925263
8 KIAA0586 NM_001244189.1(KIAA0586): c.1815G> A (p.Gln605=) single nucleotide variant Pathogenic rs762081862 GRCh38 Chromosome 14, 58458545: 58458545
9 KIAA0586 NM_001244189.1(KIAA0586): c.581T> C (p.Met194Thr) single nucleotide variant Benign/Likely benign rs61735931 GRCh37 Chromosome 14, 58909435: 58909435
10 KIAA0586 NM_001244189.1(KIAA0586): c.581T> C (p.Met194Thr) single nucleotide variant Benign/Likely benign rs61735931 GRCh38 Chromosome 14, 58442717: 58442717
11 KIAA0586 NM_001244189.1(KIAA0586): c.990C> T (p.Leu330=) single nucleotide variant Pathogenic rs780520735 GRCh38 Chromosome 14, 58448363: 58448363
12 KIAA0586 NM_001244189.1(KIAA0586): c.990C> T (p.Leu330=) single nucleotide variant Pathogenic rs780520735 GRCh37 Chromosome 14, 58915081: 58915081
13 KIAA0586 NM_001244189.1(KIAA0586): c.1204G> A (p.Val402Ile) single nucleotide variant Uncertain significance rs771000156 GRCh38 Chromosome 14, 58450662: 58450662
14 KIAA0586 NM_001244189.1(KIAA0586): c.1204G> A (p.Val402Ile) single nucleotide variant Uncertain significance rs771000156 GRCh37 Chromosome 14, 58917380: 58917380
15 KIAA0586 NM_001244189.1(KIAA0586): c.1215A> G (p.Ser405=) single nucleotide variant Benign rs148006211 GRCh38 Chromosome 14, 58450673: 58450673
16 KIAA0586 NM_001244189.1(KIAA0586): c.1215A> G (p.Ser405=) single nucleotide variant Benign rs148006211 GRCh37 Chromosome 14, 58917391: 58917391
17 KIAA0586 NM_001244189.1(KIAA0586): c.1729T> A (p.Leu577Ile) single nucleotide variant Benign rs61742715 GRCh38 Chromosome 14, 58457966: 58457966
18 KIAA0586 NM_001244189.1(KIAA0586): c.1729T> A (p.Leu577Ile) single nucleotide variant Benign rs61742715 GRCh37 Chromosome 14, 58924684: 58924684
19 KIAA0586 NM_001244189.1(KIAA0586): c.2894C> T (p.Pro965Leu) single nucleotide variant Benign rs139493302 GRCh38 Chromosome 14, 58474707: 58474707
20 KIAA0586 NM_001244189.1(KIAA0586): c.2894C> T (p.Pro965Leu) single nucleotide variant Benign rs139493302 GRCh37 Chromosome 14, 58941425: 58941425
21 KIAA0586 NM_001244189.1(KIAA0586): c.3263G> A (p.Gly1088Asp) single nucleotide variant Benign rs77860620 GRCh38 Chromosome 14, 58482672: 58482672
22 KIAA0586 NM_001244189.1(KIAA0586): c.3263G> A (p.Gly1088Asp) single nucleotide variant Benign rs77860620 GRCh37 Chromosome 14, 58949390: 58949390
23 KIAA0586 NM_001244189.1(KIAA0586): c.3324_3325delGCinsAG (p.Pro1109Ala) indel Benign rs386777947 GRCh38 Chromosome 14, 58487027: 58487028
24 KIAA0586 NM_001244189.1(KIAA0586): c.3324_3325delGCinsAG (p.Pro1109Ala) indel Benign rs386777947 GRCh37 Chromosome 14, 58953745: 58953746
25 KIAA0586 NM_001244189.1(KIAA0586): c.4464C> G (p.Ala1488=) single nucleotide variant Likely benign rs144692893 GRCh38 Chromosome 14, 58508691: 58508691
26 KIAA0586 NM_001244189.1(KIAA0586): c.4464C> G (p.Ala1488=) single nucleotide variant Likely benign rs144692893 GRCh37 Chromosome 14, 58975409: 58975409
27 KIAA0586 NM_001244189.1(KIAA0586): c.1389A> G (p.Gly463=) single nucleotide variant Benign rs10135645 GRCh38 Chromosome 14, 58453450: 58453450
28 KIAA0586 NM_001244189.1(KIAA0586): c.1389A> G (p.Gly463=) single nucleotide variant Benign rs10135645 GRCh37 Chromosome 14, 58920168: 58920168
29 KIAA0586 NM_001244189.1(KIAA0586): c.1598C> T (p.Thr533Ile) single nucleotide variant Benign rs61745119 GRCh38 Chromosome 14, 58457835: 58457835
30 KIAA0586 NM_001244189.1(KIAA0586): c.1598C> T (p.Thr533Ile) single nucleotide variant Benign rs61745119 GRCh37 Chromosome 14, 58924553: 58924553
31 KIAA0586 NM_001244189.1(KIAA0586): c.3878T> C (p.Leu1293Ser) single nucleotide variant Benign rs190271845 GRCh38 Chromosome 14, 58488812: 58488812
32 KIAA0586 NM_001244189.1(KIAA0586): c.3878T> C (p.Leu1293Ser) single nucleotide variant Benign rs190271845 GRCh37 Chromosome 14, 58955530: 58955530
33 KIAA0586 NM_001244189.1(KIAA0586): c.136G> T (p.Val46Phe) single nucleotide variant Benign rs186659284 GRCh38 Chromosome 14, 58428364: 58428364
34 KIAA0586 NM_001244189.1(KIAA0586): c.136G> T (p.Val46Phe) single nucleotide variant Benign rs186659284 GRCh37 Chromosome 14, 58895082: 58895082
35 KIAA0586 NM_001244189.1(KIAA0586): c.238T> A (p.Ser80Thr) single nucleotide variant Benign rs147119902 GRCh38 Chromosome 14, 58429365: 58429365
36 KIAA0586 NM_001244189.1(KIAA0586): c.238T> A (p.Ser80Thr) single nucleotide variant Benign rs147119902 GRCh37 Chromosome 14, 58896083: 58896083
37 KIAA0586 NM_001244189.1(KIAA0586): c.2219-3T> C single nucleotide variant Benign rs17094553 GRCh38 Chromosome 14, 58465832: 58465832
38 KIAA0586 NM_001244189.1(KIAA0586): c.2219-3T> C single nucleotide variant Benign rs17094553 GRCh37 Chromosome 14, 58932550: 58932550
39 KIAA0586 NM_001244189.1(KIAA0586): c.3103+4A> C single nucleotide variant Likely pathogenic rs372841738 GRCh38 Chromosome 14, 58477245: 58477245
40 KIAA0586 NM_001244189.1(KIAA0586): c.3103+4A> C single nucleotide variant Likely pathogenic rs372841738 GRCh37 Chromosome 14, 58943963: 58943963
41 KIAA0586 NM_001244189.1(KIAA0586): c.4319C> T (p.Thr1440Ile) single nucleotide variant Uncertain significance rs376795880 GRCh37 Chromosome 14, 58965670: 58965670
42 KIAA0586 NM_001244189.1(KIAA0586): c.4319C> T (p.Thr1440Ile) single nucleotide variant Uncertain significance rs376795880 GRCh38 Chromosome 14, 58498952: 58498952
43 KIAA0586 NM_001244189.1(KIAA0586): c.4804G> A (p.Val1602Ile) single nucleotide variant Benign rs45568037 GRCh37 Chromosome 14, 59014563: 59014563
44 KIAA0586 NM_001244189.1(KIAA0586): c.4804G> A (p.Val1602Ile) single nucleotide variant Benign rs45568037 GRCh38 Chromosome 14, 58547845: 58547845
45 KIAA0586 NM_001244189.1(KIAA0586): c.2963T> A (p.Leu988Gln) single nucleotide variant Uncertain significance rs537951340 GRCh37 Chromosome 14, 58941494: 58941494
46 KIAA0586 NM_001244189.1(KIAA0586): c.2963T> A (p.Leu988Gln) single nucleotide variant Uncertain significance rs537951340 GRCh38 Chromosome 14, 58474776: 58474776
47 KIAA0586 NM_001244189.1(KIAA0586): c.4079A> G (p.Asp1360Gly) single nucleotide variant Benign rs3783697 GRCh37 Chromosome 14, 58958923: 58958923
48 KIAA0586 NM_001244189.1(KIAA0586): c.4079A> G (p.Asp1360Gly) single nucleotide variant Benign rs3783697 GRCh38 Chromosome 14, 58492205: 58492205
49 KIAA0586 NM_001244189.1(KIAA0586): c.4620T> C (p.Ile1540=) single nucleotide variant Benign rs11611 GRCh37 Chromosome 14, 59006820: 59006820
50 KIAA0586 NM_001244189.1(KIAA0586): c.4620T> C (p.Ile1540=) single nucleotide variant Benign rs11611 GRCh38 Chromosome 14, 58540102: 58540102

Expression for Short-Rib Thoracic Dysplasia 14 with Polydactyly

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Pathways for Short-Rib Thoracic Dysplasia 14 with Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 14 with Polydactyly

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