Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SHR069 MIFTS: 49	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly Categories: Genetic diseases, Rare diseases, Respiratory diseases, Bone diseases, Fetal diseases
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Aliases & Classifications for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly ⁵⁷ ¹² ⁷⁵ ¹⁵

Majewski Syndrome ⁵⁷ ¹² ⁵³ ⁷⁵ ⁷³

Short Rib-Polydactyly Syndrome, Majewski Type ⁵⁹ ²⁹ ⁶

Srps2a ⁵⁷ ¹² ⁷⁵

Srtd6 ⁵⁷ ¹² ⁷⁵

Polydactyly with Neonatal Chondrodystrophy, Type Ii ⁵⁷ ¹²

Short Rib-Polydactyly Syndrome, Type Iia ⁵⁷ ¹³

Short Rib-Polydactyly Syndrome Type Iia ¹² ⁷⁵

Short Rib-Polydactyly Syndrome Type Ii ⁵³ ⁷⁵

Short Rib-Polydactyly Syndrome Type 2 ⁵³ ⁵⁹

Dysplasia, Thoracic, Short-Rib, Type 6 with or Without Polydactyly ) ⁴⁰

Polydactyly with Neonatal Chondrodystrophy Type Ii ⁷⁵

Polydactyly with Neonatal Chondrodystrophy Type 2 ⁵³

Short Rib-Polydactyly Syndrome, Type Iia; Srps2a ⁵⁷

Short Rib-Polydactyly Syndrome Majewski Type ⁵³

Short Rib-Polydactyly Syndrome, Type Ii ⁵⁷

Short Rib-Polydactyly Syndrome 2a ⁷⁵

Srps, Type Ii ⁵⁷

Srps Type Ii ⁷⁵

Srps Type 2 ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

short rib-polydactyly syndrome, majewski type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

⁵⁷

Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
digenic form caused by heterozygous mutations in both nek1 and dyn2ch1

HPO:

³²

short-rib thoracic dysplasia 6 with or without polydactyly:
Inheritance autosomal recessive inheritance digenic inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Respiratory diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Short rib syndrome

Polydactyly

Polydactyly, unspecified

Orphanet: ⁵⁹

Rare respiratory diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 263520

Disease Ontology ¹² DOID:0110092

ICD10 ³³ Q77.2 Q69.9

Orphanet ⁵⁹ ORPHA93269

UMLS via Orphanet ⁷⁴ C0024507

ICD10 via Orphanet ³⁴ Q77.2

MedGen ⁴² C0024507

MeSH ⁴⁴ D012779

UMLS ⁷³ C0024507

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Summaries for Short-Rib Thoracic Dysplasia 6 with or Without 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, see SRTD1 (208500). (263520)

MalaCards based summary : Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly, also known as majewski syndrome, is related to short-rib thoracic dysplasia 3 with or without polydactyly and zerres rietschel majewski syndrome. An important gene associated with Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly is NEK1 (NIMA Related Kinase 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include kidney, bone and liver, and related phenotypes are brachycephaly and cleft palate

Disease Ontology : ¹² An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the NEK1 gene on chromosome 4q33.

UniProtKB/Swiss-Prot : ⁷⁵ Short-rib thoracic dysplasia 6 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.

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Related Diseases for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	short-rib thoracic dysplasia 3 with or without polydactyly	28.7	DYNC2H1 EVC IFT122 IFT80 NEK1 TCTN3
2	zerres rietschel majewski syndrome	11.9
3	orofaciodigital syndrome iv	11.8
4	lenz-majewski hyperostotic dwarfism	11.2
5	bosma arhinia microphthalmia syndrome	10.9
6	polydactyly	10.5
7	short-rib thoracic dysplasia 10 with or without polydactyly	10.5
8	weyers acrofacial dysostosis	10.5	EVC EVC2
9	polydactyly, postaxial, type a1	10.4	EVC EVC2
10	acrofacial dysostosis	10.3	EVC EVC2
11	kidney disease	10.1
12	clouston syndrome	9.9	EVC EVC2
13	orofaciodigital syndrome	9.9	TCTN1 TCTN3
14	cleft lip/palate	9.7	DYNC2H1 IFT80 NEK1 TTC21B
15	spastic paraplegia 54, autosomal recessive	9.7	CYP2U1 DDHD1
16	joubert syndrome 1	9.5	TCTN1 TCTN2 TCTN3 TTC21B
17	short-rib thoracic dysplasia 1 with or without polydactyly	9.4	DYNC2H1 EVC2 IFT80 TRAF3IP1 TTC21B
18	ellis-van creveld syndrome	9.1	DYNC2H1 EVC EVC2 IFT80 NEK1 TTC21B
19	short-rib thoracic dysplasia 12	8.8	EVC2 IFT122 IFT80 NEK1 TTC21B
20	cranioectodermal dysplasia 1	8.7	DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B
21	asphyxiating thoracic dystrophy	6.2	DYNC2H1 EVC EVC2 IFT122 IFT80 NEK1

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

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Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Symptoms via clinical synopsis from OMIM:

⁵⁷

Prenatal Manifestations:
hydrops fetalis

Genitourinary External Genitalia Female:
ambiguous genitalia

Respiratory Lung:
pulmonary hypoplasia

Skeletal Hands:
preaxial polydactyly
postaxial polydactyly
polysyndactyly

Genitourinary Kidneys:
polycystic kidneys
glomerular and renal tubular cysts

Skeletal Pelvis:
normal pelvis

Skeletal Limbs:
short long bones
disproportionate shortening of the tibia
ovoid tibia shorter than fibula
tibial agenesis (in some patients)

Abdomen Liver:
hepatic fibrosis (rare)

Head And Neck Head:
brachycephaly (in some patients)

Respiratory Larynx:
malformed larynx

Neurologic Central Nervous System:
dilation of lateral ventricles (in some patients)
pachygyria (rare)
hypoplastic cerebellar vermis (rare)
leukomalacia (rare)

Genitourinary External Genitalia Male:
ambiguous genitalia
micropenis (in some patients)

Head And Neck Mouth:
median cleft lip
cleft-palate
lingual hamartoma (in some patients)
multiple frenula (in some patients)
microglossia (rare)

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
handlebar clavicles
horizontal ribs
squared scapulae

Skeletal Feet:
postaxial polydactyly
hallucal and postaxial polysyndactyly

Chest External Features:
narrow thorax

Cardiovascular Heart:
atrial septal defect (rare)
ventricular septal defect (rare)

Respiratory Nasopharynx:
hypoplastic epiglottis

Abdomen Gastrointestinal:
intestinal malrotation (in some patients)

Growth Height:
dwarfism, disproportionate

Skeletal:
markedly stunted and disorganized endochondral ossification

Clinical features from OMIM:

263520

Human phenotypes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

³² (show all 29)

#	Description	HPO Frequency	HPO Source Accession
1	brachycephaly ³²	occasional (7.5%)	HP:0000248
2	cleft palate ³²		HP:0000175
3	narrow chest ³²		HP:0000774
4	hydrops fetalis ³²		HP:0001789
5	hepatic fibrosis ³²	occasional (7.5%)	HP:0001395
6	atrial septal defect ³²	occasional (7.5%)	HP:0001631
7	polycystic kidney dysplasia ³²		HP:0000113
8	ventricular septal defect ³²	occasional (7.5%)	HP:0001629
9	intestinal malrotation ³²	occasional (7.5%)	HP:0002566
10	ambiguous genitalia ³²		HP:0000062
11	pancreatic fibrosis ³²	occasional (7.5%)	HP:0100732
12	preaxial hand polydactyly ³²		HP:0001177
13	pachygyria ³²	occasional (7.5%)	HP:0001302
14	postaxial hand polydactyly ³²		HP:0001162
15	median cleft lip ³²		HP:0000161
16	micropenis ³²	occasional (7.5%)	HP:0000054
17	pulmonary hypoplasia ³²		HP:0002089
18	cerebellar vermis hypoplasia ³²	occasional (7.5%)	HP:0001320
19	microglossia ³²	occasional (7.5%)	HP:0000171
20	hamartoma of tongue ³²		HP:0011802
21	short ribs ³²		HP:0000773
22	lateral clavicle hook ³²		HP:0000895
23	dilation of lateral ventricles ³²	occasional (7.5%)	HP:0006956
24	hypoplasia of the epiglottis ³²		HP:0005349
25	horizontal ribs ³²		HP:0000888
26	disproportionate shortening of the tibia ³²		HP:0005766
27	thoracic dysplasia ³²		HP:0006644
28	polysyndactyly of hallux ³²		HP:0005873
29	postaxial polysyndactyly of foot ³²		HP:0005817

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.16	DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
2	craniofacial	MP:0005382	10.09	DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
3	mortality/aging	MP:0010768	10.03	FUZ IFT122 IFT80 NEK1 PI4KA PTDSS1
4	growth/size/body region	MP:0005378	10.02	DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
5	limbs/digits/tail	MP:0005371	10.02	DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
6	embryo	MP:0005380	9.95	IFT122 TCTN1 TCTN2 TRAF3IP1 TTC21B DYNC2H1
7	nervous system	MP:0003631	9.81	DYNC2H1 FUZ IFT122 NEK1 PTDSS1 TCTN1
8	skeleton	MP:0005390	9.56	DDHD1 DYNC2H1 EVC EVC2 FUZ IFT80
9	vision/eye	MP:0005391	9.1	TRAF3IP1 DYNC2H1 FUZ IFT122 IFT80 TCTN2

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Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

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Genetic Tests for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

#	Genetic test	Affiliating Genes
1	Short Rib-Polydactyly Syndrome, Majewski Type ²⁹	NEK1

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Anatomical Context for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

⁴¹

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

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Publications for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

#	Title	Authors	Year
1	Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. ( 24241535 )	Sousa S.B....Moore G.E.	2014
2	Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. ( 24854045 )	Tonni G....De Felice C.	2014
3	TCTN3 mutations cause Mohr-Majewski syndrome. ( 22883145 )	Thomas S....Attie-Bitach T.	2012
4	Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). ( 20607029 )	Jutur P.S....Goroshi S.	2010
5	Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. ( 17535085 )	Kahl P....Knopfle G.	2007
6	Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus. ( 15194948 )	Wattanasirichaigoon D....Chunharas A.	2004
7	Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. ( 10422014 )	TA1ysA1z B....Cenani A.	1999
8	Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. ( 3608220 )	Silengo M.C....Franceschini P.	1987
9	Short rib-polydactyly syndrome type II (Majewski syndrome): a case report. ( 6535999 )	McCormac R.M....Kodroff M.B.	1984

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Genes for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Genes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly (7 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NEK1	NIMA Related Kinase 1	Protein Coding	1709.83	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21211617 22499340
2	DYNC2H1	Dynein Cytoplasmic 2 Heavy Chain 1	Protein Coding	767.1	Pathogenic ⁶ Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	TRAF3IP1	TRAF3 Interacting Protein 1	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁹
4	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	416.01	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	EVC	EvC Ciliary Complex Subunit 1	Protein Coding	405.19	Pathogenic ⁶ DISEASES inferred ¹⁵
6	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	405.02	Pathogenic ⁶ DISEASES inferred ¹⁵
7	FUZ	Fuzzy Planar Cell Polarity Protein	Protein Coding	400	Pathogenic ⁶
8	PTDSS1	Phosphatidylserine Synthase 1	Protein Coding	18.33	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	TCTN3	Tectonic Family Member 3	Protein Coding	17.86	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	TCTN2	Tectonic Family Member 2	Protein Coding	17.45	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	TCTN1	Tectonic Family Member 1	Protein Coding	17.2	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	PI4KA	Phosphatidylinositol 4-Kinase Alpha	Protein Coding	16.19	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	IFT80	Intraflagellar Transport 80	Protein Coding	16.19	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	DDHD1	DDHD Domain Containing 1	Protein Coding	16.13	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
15	IFT122	Intraflagellar Transport 122	Protein Coding	16.04	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
16	CYP2U1	Cytochrome P450 Family 2 Subfamily U Member 1	Protein Coding	16.01	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	NEK1	p.Gly145Arg	VAR_069617	rs431905508
2	NEK1	p.Leu253Ser	VAR_069618

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

⁶

(show top 50) (show all 106)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EVC2	NM_147127.4(EVC2): c.1195C> T (p.Arg399Ter)	single nucleotide variant	Pathogenic	rs137852924	GRCh37	Chromosome 4, 5642516: 5642516
2	EVC2	NM_147127.4(EVC2): c.1195C> T (p.Arg399Ter)	single nucleotide variant	Pathogenic	rs137852924	GRCh38	Chromosome 4, 5640789: 5640789
3	EVC	NM_153717.2(EVC): c.1886+5G> T	single nucleotide variant	Likely pathogenic	rs794726665	GRCh37	Chromosome 4, 5795449: 5795449
4	EVC	NM_153717.2(EVC): c.1886+5G> T	single nucleotide variant	Likely pathogenic	rs794726665	GRCh38	Chromosome 4, 5793722: 5793722
5	EVC	NM_153717.2(EVC): c.1018C> T (p.Arg340Ter)	single nucleotide variant	Pathogenic	rs121908425	GRCh37	Chromosome 4, 5749953: 5749953
6	EVC	NM_153717.2(EVC): c.1018C> T (p.Arg340Ter)	single nucleotide variant	Pathogenic	rs121908425	GRCh38	Chromosome 4, 5748226: 5748226
7	NEK1	NM_001199397.1(NEK1): c.379C> T (p.Arg127Ter)	single nucleotide variant	Pathogenic	rs387906890	GRCh37	Chromosome 4, 170511894: 170511894
8	NEK1	NM_001199397.1(NEK1): c.379C> T (p.Arg127Ter)	single nucleotide variant	Pathogenic	rs387906890	GRCh38	Chromosome 4, 169590743: 169590743
9	NEK1	NM_001199397.1(NEK1): c.869-2A> G	single nucleotide variant	Pathogenic	rs483352906	GRCh37	Chromosome 4, 170498232: 170498232
10	NEK1	NM_001199397.1(NEK1): c.869-2A> G	single nucleotide variant	Pathogenic	rs483352906	GRCh38	Chromosome 4, 169577081: 169577081
11	NEK1	NM_001199397.1(NEK1): c.433G> A (p.Gly145Arg)	single nucleotide variant	Pathogenic	rs431905508	GRCh37	Chromosome 4, 170510629: 170510629
12	NEK1	NM_001199397.1(NEK1): c.433G> A (p.Gly145Arg)	single nucleotide variant	Pathogenic	rs431905508	GRCh38	Chromosome 4, 169589478: 169589478
13	NEK1	NM_001199397.1(NEK1): c.869-1G> T	single nucleotide variant	Pathogenic	rs794727032	GRCh37	Chromosome 4, 170498231: 170498231
14	NEK1	NM_001199397.1(NEK1): c.869-1G> T	single nucleotide variant	Pathogenic	rs794727032	GRCh38	Chromosome 4, 169577080: 169577080
15	NEK1	NM_001199397.1(NEK1): c.117+1G> A	single nucleotide variant	Pathogenic	rs794727285	GRCh37	Chromosome 4, 170523664: 170523664
16	NEK1	NM_001199397.1(NEK1): c.117+1G> A	single nucleotide variant	Pathogenic	rs794727285	GRCh38	Chromosome 4, 169602513: 169602513
17	NEK1	NM_012224.2(NEK1): c.782G> A (p.Arg261His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200161705	GRCh37	Chromosome 4, 170506525: 170506525
18	NEK1	NM_012224.2(NEK1): c.782G> A (p.Arg261His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200161705	GRCh38	Chromosome 4, 169585374: 169585374
19	NEK1	NM_001199397.1(NEK1): c.3107C> G (p.Ser1036Ter)	single nucleotide variant	Pathogenic/Likely pathogenic,risk factor	rs199947197	GRCh37	Chromosome 4, 170345819: 170345819
20	NEK1	NM_001199397.1(NEK1): c.3107C> G (p.Ser1036Ter)	single nucleotide variant	Pathogenic/Likely pathogenic,risk factor	rs199947197	GRCh38	Chromosome 4, 169424668: 169424668
21	NEK1	NM_012224.2(NEK1): c.2151T> G (p.Asn717Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34324114	GRCh38	Chromosome 4, 169477323: 169477323
22	NEK1	NM_012224.2(NEK1): c.2151T> G (p.Asn717Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34324114	GRCh37	Chromosome 4, 170398474: 170398474
23	NEK1	NM_012224.2(NEK1): c.1021G> A (p.Ala341Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs189186475	GRCh38	Chromosome 4, 169562196: 169562196
24	NEK1	NM_012224.2(NEK1): c.1021G> A (p.Ala341Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs189186475	GRCh37	Chromosome 4, 170483347: 170483347
25	NEK1	NM_012224.2(NEK1): c.214+1G> A	single nucleotide variant	other	rs1049502301	GRCh38	Chromosome 4, 169602007: 169602007
26	NEK1	NM_012224.2(NEK1): c.214+1G> A	single nucleotide variant	other	rs1049502301	GRCh37	Chromosome 4, 170523158: 170523158
27	NEK1	NM_012224.2(NEK1): c.3327G> A (p.Leu1109=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56077602	GRCh37	Chromosome 4, 170322975: 170322975
28	NEK1	NM_012224.2(NEK1): c.3327G> A (p.Leu1109=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56077602	GRCh38	Chromosome 4, 169401824: 169401824
29	WDR35	NM_001006657.1(WDR35): c.1183A> T (p.Asn395Tyr)	single nucleotide variant	Uncertain significance	rs143343508	GRCh37	Chromosome 2, 20166496: 20166496
30	WDR35	NM_001006657.1(WDR35): c.1183A> T (p.Asn395Tyr)	single nucleotide variant	Uncertain significance	rs143343508	GRCh38	Chromosome 2, 19966735: 19966735
31	NEK1	NM_012224.2(NEK1): c.2949G> A (p.Pro983=)	single nucleotide variant	Benign/Likely benign	rs7655924	GRCh37	Chromosome 4, 170345893: 170345893
32	NEK1	NM_012224.2(NEK1): c.2949G> A (p.Pro983=)	single nucleotide variant	Benign/Likely benign	rs7655924	GRCh38	Chromosome 4, 169424742: 169424742
33	NEK1	NM_012224.2(NEK1): c.1581T> C (p.Ala527=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs184804243	GRCh37	Chromosome 4, 170459044: 170459044
34	NEK1	NM_012224.2(NEK1): c.1581T> C (p.Ala527=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs184804243	GRCh38	Chromosome 4, 169537893: 169537893
35	NEK1	NM_012224.2(NEK1): c.1388C> T (p.Ala463Val)	single nucleotide variant	Benign/Likely benign	rs34540355	GRCh37	Chromosome 4, 170477125: 170477125
36	NEK1	NM_012224.2(NEK1): c.1388C> T (p.Ala463Val)	single nucleotide variant	Benign/Likely benign	rs34540355	GRCh38	Chromosome 4, 169555974: 169555974
37	NEK1	NM_012224.2(NEK1): c.1146T> C (p.Ile382=)	single nucleotide variant	Benign/Likely benign	rs56064008	GRCh38	Chromosome 4, 169561732: 169561732
38	NEK1	NM_012224.2(NEK1): c.1146T> C (p.Ile382=)	single nucleotide variant	Benign/Likely benign	rs56064008	GRCh37	Chromosome 4, 170482883: 170482883
39	NEK1	NM_012224.2(NEK1): c.1068G> A (p.Arg356=)	single nucleotide variant	Benign	rs17055010	GRCh38	Chromosome 4, 169562149: 169562149
40	NEK1	NM_012224.2(NEK1): c.1068G> A (p.Arg356=)	single nucleotide variant	Benign	rs17055010	GRCh37	Chromosome 4, 170483300: 170483300
41	NEK1	NM_012224.2(NEK1): c.607-3T> C	single nucleotide variant	Benign/Likely benign	rs55679731	GRCh38	Chromosome 4, 169585552: 169585552
42	NEK1	NM_012224.2(NEK1): c.607-3T> C	single nucleotide variant	Benign/Likely benign	rs55679731	GRCh37	Chromosome 4, 170506703: 170506703
43	NEK1	NM_012224.2(NEK1): c.2171A> G (p.Glu724Gly)	single nucleotide variant	Benign	rs34099167	GRCh37	Chromosome 4, 170398454: 170398454
44	NEK1	NM_012224.2(NEK1): c.2171A> G (p.Glu724Gly)	single nucleotide variant	Benign	rs34099167	GRCh38	Chromosome 4, 169477303: 169477303
45	DYNC2H1	NM_001080463.1(DYNC2H1): c.10343T> C (p.Leu3448Pro)	single nucleotide variant	Likely pathogenic	rs771487311	GRCh38	Chromosome 11, 103255530: 103255530
46	DYNC2H1	NM_001080463.1(DYNC2H1): c.10343T> C (p.Leu3448Pro)	single nucleotide variant	Likely pathogenic	rs771487311	GRCh37	Chromosome 11, 103126259: 103126259
47	IFT80	NM_020800.2(IFT80): c.721G> C (p.Gly241Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138004478	GRCh37	Chromosome 3, 160073857: 160073857
48	IFT80	NM_020800.2(IFT80): c.721G> C (p.Gly241Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138004478	GRCh38	Chromosome 3, 160356069: 160356069
49	WDR35	NM_001006657.1(WDR35): c.206G> A (p.Gly69Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs765513105	GRCh38	Chromosome 2, 19982471: 19982471
50	WDR35	NM_001006657.1(WDR35): c.206G> A (p.Gly69Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs765513105	GRCh37	Chromosome 2, 20182232: 20182232

Sources

Expression for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly.

Sources

Pathways for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.28	DYNC2H1 IFT122 IFT80 TCTN1 TCTN2 TCTN3
2	Signaling by Hedgehog ⁶⁶ Show member pathways Activation of SMO ⁶⁶ Hedgehog off' state ⁶⁶ Hedgehog on' state ⁶⁶	12.17	DYNC2H1 EVC EVC2 FUZ IFT122 TTC21B
3	Intraflagellar transport ⁶⁶	10.63	DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B

Sources

GO Terms for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cilium	GO:0005929	9.8	DYNC2H1 EVC EVC2 IFT122 IFT80 TRAF3IP1
2	cytoskeleton	GO:0005856	9.7	DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
3	ciliary basal body	GO:0036064	9.65	EVC IFT122 TRAF3IP1
4	ciliary membrane	GO:0060170	9.62	EVC EVC2 TCTN2 TCTN3
5	ciliary tip	GO:0097542	9.55	DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B
6	ciliary transition zone	GO:0035869	9.52	TCTN1 TRAF3IP1
7	ciliary base	GO:0097546	9.51	IFT122 TRAF3IP1
8	intraciliary transport particle B	GO:0030992	9.49	IFT80 TRAF3IP1
9	MKS complex	GO:0036038	9.46	TCTN1 TCTN2
10	plasma membrane protein complex	GO:0098797	9.43	EVC EVC2
11	intraciliary transport particle A	GO:0030991	9.4	IFT122 TTC21B
12	cell projection	GO:0042995	9.32	DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
13	cytoplasm	GO:0005737	10.21	CYP2U1 DDHD1 DYNC2H1 EVC EVC2 FUZ

Biological processes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	ciliary basal body-plasma membrane docking	GO:0097711	9.65	TCTN1 TCTN2 TCTN3
2	smoothened signaling pathway	GO:0007224	9.65	EVC EVC2 TCTN2 TCTN3 TTC21B
3	non-motile cilium assembly	GO:1905515	9.61	DYNC2H1 FUZ IFT122
4	protein localization to cilium	GO:0061512	9.58	DYNC2H1 IFT122 TTC21B
5	cell projection organization	GO:0030030	9.56	DYNC2H1 FUZ IFT122 NEK1 TCTN1 TCTN2
6	intraciliary transport involved in cilium assembly	GO:0035735	9.55	DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B
7	regulation of smoothened signaling pathway	GO:0008589	9.54	FUZ TCTN1 TTC21B
8	dorsal/ventral pattern formation	GO:0009953	9.52	DYNC2H1 IFT122
9	positive regulation of smoothened signaling pathway	GO:0045880	9.51	DYNC2H1 EVC
10	intraciliary retrograde transport	GO:0035721	9.5	DYNC2H1 IFT122 TTC21B
11	embryonic heart tube development	GO:0035050	9.49	IFT122 TRAF3IP1
12	embryonic body morphogenesis	GO:0010172	9.46	FUZ IFT122
13	cilium assembly	GO:0060271	9.28	DYNC2H1 FUZ IFT122 IFT80 NEK1 TCTN1

Sources

Sources for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

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