MCID: SHR098
MIFTS: 45

Short-Rib Thoracic Dysplasia 12

Categories: Rare diseases, Respiratory diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 12

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 12:

Name: Short-Rib Thoracic Dysplasia 12 57
Beemer-Langer Syndrome 57 12 15
Short Rib-Polydactyly Syndrome, Beemer Type 44 73
Type Iv Short Rib Polydactyly Syndrome 12 6
Short Rib-Polydactyly Syndrome Type 4 53 59
Short Rib-Polydactyly Syndrome, Beemer-Langer Type 59
Short Rib Polydactyly Syndrome Beemer-Langer Type 53
Short Rib-Polydactyly Syndrome, Type Iv; Srps4 57
Short Rib-Polydactyly Syndrome Beemer Type 53
Short Rib-Polydactyly Syndrome, Type Iv 57
Short Rib-Polydactyly Syndrome Type Iv 53
Dysplasia, Short-Rib Thoracic, Type 12 40
Short Rib Syndrome, Beemer Type 57
Beemer Langer Syndrome 53
Srps Type 4 53
Srps Iv 57
Srtd12 57
Srps4 57

Characteristics:

Orphanet epidemiological data:

59
short rib-polydactyly syndrome, beemer-langer type
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
neonatal lethal due to respiratory insufficiency


HPO:

32
short-rib thoracic dysplasia 12:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 12

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, see SRTD1 (208500). (269860)

MalaCards based summary : Short-Rib Thoracic Dysplasia 12, also known as beemer-langer syndrome, is related to polydactyly and short-rib thoracic dysplasia 10 with or without polydactyly, and has symptoms including edema An important gene associated with Short-Rib Thoracic Dysplasia 12 is TTC21B (Tetratricopeptide Repeat Domain 21B), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include bone, brain and kidney, and related phenotypes are inguinal hernia and ambiguous genitalia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93268Disease definitionShort rib-polydactylysyndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.Visit the Orphanet disease page for more resources.

Disease Ontology : 12 A syndrome that results in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.

Related Diseases for Short-Rib Thoracic Dysplasia 12

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 12:



Diseases related to Short-Rib Thoracic Dysplasia 12

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 12

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthal folds

Head And Neck Neck:
short neck
nuchal edema

Abdomen External Features:
inguinal hernia
omphalocele
protuberant abdomen

Head And Neck Mouth:
cleft palate
lobulated tongue
cleft lip
oral frenula
hamartomata of tongue

Chest External Features:
short thorax
narrow thorax

Growth Other:
intrauterine growth retardation

Cardiovascular Heart:
ventricular septal defect
patent foramen ovale

Genitourinary External Genitalia Male:
ambiguous genitalia
small phallus
fused labioscrotal folds

Respiratory Lung:
pulmonary hypoplasia
interstitial fibrosis
atelectatic lungs

Skeletal Hands:
short hands
broad hands
marked brachydactyly

Genitourinary Kidneys:
hypoplastic kidneys
cystic kidneys

Head And Neck Teeth:
natal teeth

Prenatal Manifestations:
hydrops

Abdomen Gastrointestinal:
malrotation

Chest Diaphragm:
high diaphragm

AbdomenSpleen:
enlarged and edematous spleen

Head And Neck Ears:
low-set ears
posteriorly rotated ears
malformed ears
small cavum conchae
narrow ear canals

Respiratory:
respiratory insufficiency

Abdomen:
ascites

Cardiovascular Vascular:
patent ductus arteriosus
transposition of the great vessels

Head And Neck Face:
flat face

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Central Nervous System:
holoprosencephaly
anencephaly
hydrocephaly
hypothalamic hamartomas

Chest Breasts:
hypoplastic nipples
widely spaced nipples

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
small scapulae
horizontal ribs
irregular, widened anterior ends of ribs
high clavicles

Skeletal Feet:
short feet
broad feet
marked brachydactyly

Skeletal Limbs:
short limbs
short long bones
limbs fixed in external rotation
bowed femora, mild
bowing of radius, marked
more
Skeletal Spine:
thoracic lordosis
delayed vertebral body ossification, mild

Head And Neck Head:
large head
high, bulging forehead

Head And Neck Nose:
flat broad nasal base

Abdomen Liver:
enlarged and edematous liver

GenitourinaryInternal GenitaliaMale:
intraabdominal testes


Clinical features from OMIM:

269860

Human phenotypes related to Short-Rib Thoracic Dysplasia 12:

32 (show top 50) (show all 54)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 ambiguous genitalia 32 HP:0000062
3 renal hypoplasia 32 HP:0000089
4 lobulated tongue 32 HP:0000180
5 hydrocephalus 32 HP:0000238
6 macrocephaly 32 HP:0000256
7 epicanthus 32 HP:0000286
8 hypertelorism 32 HP:0000316
9 high forehead 32 HP:0000348
10 posteriorly rotated ears 32 HP:0000358
11 low-set ears 32 HP:0000369
12 abnormality of the pinna 32 HP:0000377
13 short neck 32 HP:0000470
14 natal tooth 32 HP:0000695
15 short ribs 32 HP:0000773
16 narrow chest 32 HP:0000774
17 cystic renal dysplasia 32 HP:0000800
18 hypoplastic scapulae 32 HP:0000882
19 horizontal ribs 32 HP:0000888
20 edema 32 HP:0000969
21 broad palm 32 HP:0001169
22 holoprosencephaly 32 HP:0001360
23 periportal fibrosis 32 HP:0001405
24 intrauterine growth retardation 32 HP:0001511
25 protuberant abdomen 32 HP:0001538
26 omphalocele 32 HP:0001539
27 ascites 32 HP:0001541
28 polyhydramnios 32 HP:0001561
29 ventricular septal defect 32 HP:0001629
30 patent ductus arteriosus 32 HP:0001643
31 patent foramen ovale 32 HP:0001655
32 splenomegaly 32 HP:0001744
33 broad foot 32 HP:0001769
34 short foot 32 HP:0001773
35 short toe 32 HP:0001831
36 pulmonary hypoplasia 32 HP:0002089
37 respiratory insufficiency 32 HP:0002093
38 hepatomegaly 32 HP:0002240
39 anencephaly 32 HP:0002323
40 hypoplastic nipples 32 HP:0002557
41 intestinal malrotation 32 HP:0002566
42 bowing of the legs 32 HP:0002979
43 short long bone 32 HP:0003026
44 short palm 32 HP:0004279
45 bowing of the arm 32 HP:0006488
46 wide intermamillary distance 32 HP:0006610
47 thoracic dysplasia 32 HP:0006644
48 median cleft lip and palate 32 HP:0008501
49 short finger 32 HP:0009381
50 limb undergrowth 32 HP:0009826

UMLS symptoms related to Short-Rib Thoracic Dysplasia 12:


edema

GenomeRNAi Phenotypes related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with Ras GR00018-A-0 8.92 EVC2 IFT80 NEK1 TTC21B

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.73 EVC2 IFT122 IFT80 NEK1 TTC21B WDR19
2 cellular MP:0005384 9.72 EVC2 IFT122 IFT80 TTC21B WDR19
3 growth/size/body region MP:0005378 9.55 IFT80 NEK1 WDR19 EVC2 IFT122
4 limbs/digits/tail MP:0005371 9.35 EVC2 IFT122 IFT80 TTC21B WDR19
5 skeleton MP:0005390 9.02 EVC2 IFT80 NEK1 TTC21B WDR19

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 12

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 12

Cochrane evidence based reviews: short rib-polydactyly syndrome, beemer type

Genetic Tests for Short-Rib Thoracic Dysplasia 12

Anatomical Context for Short-Rib Thoracic Dysplasia 12

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 12:

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

Publications for Short-Rib Thoracic Dysplasia 12

Articles related to Short-Rib Thoracic Dysplasia 12:

# Title Authors Year
1
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. ( 28370949 )
2017
2
Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. ( 19475553 )
2009
3
New case of Beemer-Langer syndrome. ( 10742417 )
2000
4
Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs. ( 8209908 )
1994
5
Short rib (polydactyly) syndrome type IV: Beemer-Langer syndrome. ( 8488883 )
1993
6
Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome. ( 1867273 )
1991

Variations for Short-Rib Thoracic Dysplasia 12

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 12:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYNC2H1 NM_001080463.1(DYNC2H1): c.6047A> G (p.Tyr2016Cys) single nucleotide variant Uncertain significance rs200190291 GRCh38 Chromosome 11, 103177728: 103177728
2 DYNC2H1 NM_001080463.1(DYNC2H1): c.6047A> G (p.Tyr2016Cys) single nucleotide variant Uncertain significance rs200190291 GRCh37 Chromosome 11, 103048457: 103048457
3 EVC2 NM_147127.4(EVC2): c.1823G> A (p.Arg608His) single nucleotide variant Conflicting interpretations of pathogenicity rs145693546 GRCh37 Chromosome 4, 5630349: 5630349
4 EVC2 NM_147127.4(EVC2): c.1823G> A (p.Arg608His) single nucleotide variant Conflicting interpretations of pathogenicity rs145693546 GRCh38 Chromosome 4, 5628622: 5628622
5 IFT80 NM_020800.2(IFT80): c.1093A> G (p.Thr365Ala) single nucleotide variant Uncertain significance rs140202230 GRCh37 Chromosome 3, 160021761: 160021761
6 IFT80 NM_020800.2(IFT80): c.1093A> G (p.Thr365Ala) single nucleotide variant Uncertain significance rs140202230 GRCh38 Chromosome 3, 160303973: 160303973
7 TTC21B NM_024753.4(TTC21B): c.3605T> C (p.Leu1202Pro) single nucleotide variant Pathogenic rs759086770 GRCh38 Chromosome 2, 165883873: 165883873
8 TTC21B NM_024753.4(TTC21B): c.3605T> C (p.Leu1202Pro) single nucleotide variant Pathogenic rs759086770 GRCh37 Chromosome 2, 166740383: 166740383
9 TTC21B NM_024753.4(TTC21B): c.1320delT (p.Phe440Leufs) deletion Pathogenic rs775836730 GRCh37 Chromosome 2, 166785711: 166785711
10 TTC21B NM_024753.4(TTC21B): c.1320delT (p.Phe440Leufs) deletion Pathogenic rs775836730 GRCh38 Chromosome 2, 165929201: 165929201
11 IFT80 NM_020800.2(IFT80): c.487_490delCTTT (p.Leu163Ilefs) deletion Pathogenic GRCh38 Chromosome 3, 160366102: 160366105
12 IFT80 NM_020800.2(IFT80): c.487_490delCTTT (p.Leu163Ilefs) deletion Pathogenic GRCh37 Chromosome 3, 160083890: 160083893
13 NEK1 NM_001199397.1(NEK1): c.418G> A (p.Gly140Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 170510644: 170510644
14 NEK1 NM_001199397.1(NEK1): c.418G> A (p.Gly140Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 169589493: 169589493
15 WDR19 NM_025132.3(WDR19): c.475G> A (p.Asp159Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 39201166: 39201166
16 WDR19 NM_025132.3(WDR19): c.475G> A (p.Asp159Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 39199546: 39199546
17 WDR19 NM_025132.3(WDR19): c.3484-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 4, 39272978: 39272978
18 WDR19 NM_025132.3(WDR19): c.3484-2A> C single nucleotide variant Pathogenic GRCh37 Chromosome 4, 39274598: 39274598
19 EVC2 NM_147127.4(EVC2): c.3121C> T (p.Gln1041Ter) single nucleotide variant Likely pathogenic rs376133710 GRCh37 Chromosome 4, 5578118: 5578118
20 EVC2 NM_147127.4(EVC2): c.3121C> T (p.Gln1041Ter) single nucleotide variant Likely pathogenic rs376133710 GRCh38 Chromosome 4, 5576391: 5576391
21 EVC2 NM_147127.4(EVC2): c.1708C> T (p.Gln570Ter) single nucleotide variant Pathogenic rs769864196 GRCh38 Chromosome 4, 5631795: 5631795
22 EVC2 NM_147127.4(EVC2): c.1708C> T (p.Gln570Ter) single nucleotide variant Pathogenic rs769864196 GRCh37 Chromosome 4, 5633522: 5633522

Expression for Short-Rib Thoracic Dysplasia 12

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 12.

Pathways for Short-Rib Thoracic Dysplasia 12

Pathways related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 IFT122 IFT80 TTC21B WDR19
2
Show member pathways
11.8 EVC2 IFT122 TTC21B WDR19
3 10.54 IFT122 IFT80 TTC21B WDR19

GO Terms for Short-Rib Thoracic Dysplasia 12

Cellular components related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.88 EVC2 IFT122 IFT80 NEK1 TTC21B WDR19
2 cytoskeleton GO:0005856 9.73 EVC2 IFT122 IFT80 NEK1 TTC21B WDR19
3 cell projection GO:0042995 9.72 EVC2 IFT122 IFT80 TTC21B WDR19
4 cilium GO:0005929 9.55 EVC2 IFT122 IFT80 TTC21B WDR19
5 photoreceptor connecting cilium GO:0032391 9.37 IFT122 WDR19
6 intraciliary transport particle A GO:0030991 9.13 IFT122 TTC21B WDR19
7 ciliary tip GO:0097542 8.92 IFT122 IFT80 TTC21B WDR19

Biological processes related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.58 IFT122 NEK1 WDR19
2 smoothened signaling pathway GO:0007224 9.5 EVC2 TTC21B WDR19
3 cilium assembly GO:0060271 9.46 IFT122 IFT80 NEK1 WDR19
4 protein localization to cilium GO:0061512 9.43 IFT122 TTC21B
5 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.37 IFT122 WDR19
6 ciliary receptor clustering involved in smoothened signaling pathway GO:0060830 9.26 IFT122 WDR19
7 intraciliary retrograde transport GO:0035721 9.13 IFT122 TTC21B WDR19
8 intraciliary transport involved in cilium assembly GO:0035735 8.92 IFT122 IFT80 TTC21B WDR19

Sources for Short-Rib Thoracic Dysplasia 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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