Geleophysic Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: GLP001 MIFTS: 44	Geleophysic Dysplasia Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Geleophysic Dysplasia

MalaCards integrated aliases for Geleophysic Dysplasia:

Name: Geleophysic Dysplasia ¹² ²⁴ ⁵² ²⁵ ⁵⁸ ³⁶ ²⁹ ⁶ ¹⁵ ³⁹ ⁷¹

Geleophysic Dwarfism ¹² ⁷⁴ ⁵² ²⁵ ⁵⁸

Gphysd ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁸

geleophysic dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases Skin diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0111724

KEGG ³⁶ H00900

SNOMED-CT ⁶⁷ 28557005

MESH via Orphanet ⁴⁴ C537677

ICD10 via Orphanet ³³ Q87.1

UMLS via Orphanet ⁷² C3489726

Orphanet ⁵⁸ ORPHA2623

UMLS ⁷¹ C3489726

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Summaries for Geleophysic Dysplasia

Genetics Home Reference : ²⁵ Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called contractures, both of which significantly limit mobility. Affected individuals usually have a limited range of motion in their fingers, toes, wrists, and elbows. Additionally, contractures in the legs and hips cause many affected people to walk on their toes. The name of this condition, which comes from the Greek words for happy ("gelios") and nature ("physis"), is derived from the good-natured facial appearance seen in most affected individuals. The distinctive facial features associated with this condition include a round face with full cheeks, a small nose with upturned nostrils, a broad nasal bridge, a thin upper lip, upturned corners of the mouth, and a flat area between the upper lip and the nose (philtrum). Geleophysic dysplasia is also characterized by heart (cardiac) problems, particularly abnormalities of the cardiac valves. These valves normally control the flow of blood through the heart. In people with geleophysic dysplasia, the cardiac valves thicken, which impedes blood flow and increases blood pressure in the heart. Other heart problems have also been reported in people with geleophysic dysplasia; these include a narrowing of the artery from the heart to the lungs (pulmonary stenosis) and a hole between the two upper chambers of the heart (atrial septal defect). Other features of geleophysic dysplasia can include an enlarged liver (hepatomegaly) and recurrent respiratory and ear infections. In severe cases, a narrowing of the windpipe (tracheal stenosis) can cause serious breathing problems. As a result of heart and respiratory abnormalities, geleophysic dysplasia is often life-threatening in childhood. However, some affected people have lived into adulthood.

MalaCards based summary : Geleophysic Dysplasia, also known as geleophysic dwarfism, is related to geleophysic dysplasia 3 and geleophysic dysplasia 1. An important gene associated with Geleophysic Dysplasia is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and Metabolism of proteins. Affiliated tissues include bone, skin and liver, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : ¹² A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2623 Definition A rare skeletal dysplasia characterized by short stature , prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy''). Epidemiology Fewer than 30 cases have been reported to date. Clinical description The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip. Additional clinical features include progressive cardiac valvular thickening often leading to an early death, contractions of the gastrocnemius muscle and Achilles tendon leading to tip toe walking, tracheal stenosis, bronchopulmonary insufficiency, and liver enlargement. Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies. Etiology Mutations have been found in the ADAMTSL2 and FBN1 genes which appear to induce microfibrillar network disorganization and enhanced TGF-beta signaling. FBN1 encodes fibrillin-1 and ADAMTSL2 (Disintegrin And Metalloproteinase with Thrombospondin repeats- like 2) encodes a glycoprotein of unknown function. Genetic counseling Transmission is autosomal recessive in the cases with ADAMTSL2 gene mutations and autosomal dominant in the cases with FBN1 mutations. Visit the Orphanet disease page for more resources.

KEGG : ³⁶ Geleophysic dysplasia is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, stiff joints, distinctive facial features, and progressive valvular cardiac disease.

Wikipedia : ⁷⁴ Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and... more...

GeneReviews: NBK11168

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Related Diseases for Geleophysic Dysplasia

Diseases in the Geleophysic Dysplasia family:

Geleophysic Dysplasia 1	Geleophysic Dysplasia 2
Geleophysic Dysplasia 3

Diseases related to Geleophysic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)

#	Related Disease	Score	Top Affiliating Genes
1	geleophysic dysplasia 3	34.3	TSR1 TBRG1 LTBP3 LTBP2 ADAMTSL2
2	geleophysic dysplasia 1	34.2	TSR1 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
3	geleophysic dysplasia 2	34.1	TSR1 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
4	brachydactyly	30.7	LTBP2 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
5	tracheal stenosis	30.4	TBRG1 LTBP3 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17
6	marfan syndrome	29.8	THSD4 TGFB1 LTBP2 LTBP1 LOC113939944 FBN3
7	acromicric dysplasia	28.2	THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
8	weill-marchesani syndrome	27.9	THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
9	isolated ectopia lentis	27.4	THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
10	chromosome 8q22.1 duplication syndrome	11.3
11	autosomal recessive disease	10.5
12	acromelic dysplasia	10.5
13	dwarfism	10.4
14	isolated microspherophakia	10.4	LTBP2 ADAMTS10
15	aortic aneurysm, familial thoracic 2	10.4	FBN2 FBN1
16	weill-marchesani syndrome 1	10.4	LTBP2 ADAMTS10
17	autosomal recessive cutis laxa type i	10.4	TGFB1 LTBP3 FBN1
18	tricuspid valve prolapse	10.3	FBN2 FBN1
19	lysosomal storage disease	10.3
20	cutis laxa, autosomal recessive, type ic	10.3	LTBP3 LTBP2
21	marden-walker syndrome	10.3	FBN2 FBN1
22	iris disease	10.3	LTBP3 LTBP2 FBN1
23	camurati-engelmann disease	10.3	TGFB1 LTBP3 LTBP2
24	postural orthostatic tachycardia syndrome	10.3	FBN2 FBN1
25	familial thoracic aortic aneurysm and aortic dissection	10.3	LOC113939944 FBN2 FBN1
26	myhre syndrome	10.2
27	respiratory failure	10.2
28	skeletal dysplasias	10.2
29	hydrophthalmos	10.2	LTBP3 LTBP2
30	phacogenic glaucoma	10.2	LTBP3 LTBP2 LTBP1 FBN1
31	sulfite oxidase deficiency, isolated	10.2	ADAMTSL4 ADAMTS10
32	primary congenital glaucoma	10.2	LTBP3 LTBP2 FBN1 ADAMTS10
33	loeys-dietz syndrome	10.2	LOC113939944 FBN2 FBN1
34	ectopia lentis 1, isolated, autosomal dominant	10.2	THSD4 FBN1 ADAMTSL4 ADAMTS10
35	ectopia lentis 2, isolated, autosomal recessive	10.2	THSD4 FBN1 ADAMTSL4 ADAMTS10
36	tracheal disease	10.1	TBRG1 FBN1 ADAMTSL2 ADAMTS17 ADAMTS10
37	juvenile glaucoma	10.1	LTBP3 LTBP2
38	dwarfism with stiff joints and ocular abnormalities	10.1
39	hypertelorism	10.1
40	trigger thumb	10.1
41	hydrocephalus due to congenital stenosis of aqueduct of sylvius	10.1
42	branchiootic syndrome 1	10.1
43	astigmatism	10.1
44	intraocular pressure quantitative trait locus	10.1
45	brown syndrome	10.1
46	mucopolysaccharidosis-plus syndrome	10.1
47	pulmonary hypertension	10.1
48	monocular esotropia	10.1
49	hydrocephalus	10.1
50	mitral valve insufficiency	10.1

Graphical network of the top 20 diseases related to Geleophysic Dysplasia:

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Symptoms & Phenotypes for Geleophysic Dysplasia

GenomeRNAi Phenotypes related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00240-S-1	9.36	ADAMTS17
2	Decreased viability	GR00381-A-1	9.36	ADAMTS17 FBN3 LTBP3
3	Decreased viability	GR00381-A-2	9.36	ADAMTS17 FBN3
4	Decreased viability	GR00381-A-3	9.36	ADAMTS17 FBN3 LTBP3
5	Decreased viability	GR00402-S-2	9.36	ADAMTS17 LTBP3

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Drugs & Therapeutics for Geleophysic Dysplasia

Search Clinical Trials , NIH Clinical Center for Geleophysic Dysplasia

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Genetic Tests for Geleophysic Dysplasia

Genetic tests related to Geleophysic Dysplasia:

#	Genetic test	Affiliating Genes
1	Geleophysic Dysplasia ²⁹

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Anatomical Context for Geleophysic Dysplasia

MalaCards organs/tissues related to Geleophysic Dysplasia:

⁴⁰

Bone, Skin, Liver, Heart, Lung, Trachea, Eye

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Publications for Geleophysic Dysplasia

Articles related to Geleophysic Dysplasia:

(show top 50) (show all 76)

#	Title	Authors	PMID	Year
1	Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. ⁶¹ ⁶ ²⁴	Ben-Salem S...Al-Gazali L	24014090	2013
2	Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. ²⁴ ⁶ ⁶¹	Allali S...Cormier-Daire V	21415077	2011
3	Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. ⁶ ⁶¹	Legare JM...Bartlett HL	30195254	2018
4	Geleophysic Dysplasia ⁶ ⁶¹	Marzin P...Cormier-Daire V	20301776	2009
5	A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. ²⁴ ⁶¹	Cheng SW...Chung BH	29191498	2018
6	A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. ⁶¹ ²⁴	Li D...Yang Y	28917829	2017
7	Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. ²⁴ ⁶¹	Mackenroth L...Tzschach A	27057656	2016
8	Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. ²⁴ ⁶¹	McInerney-Leo AM...Cormier-Daire V	27068007	2016
9	Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. ²⁴ ⁶¹	Garcia-Ortiz L...de la Concepcion A Yerena M	25850559	2015
10	A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. ⁶	Jensen SA...Handford PA	25979247	2015
11	Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. ⁶¹ ²⁴	Elhoury ME...Galal MO	24192049	2015
12	Novel mutations in geleophysic dysplasia type 1. ²⁴ ⁶¹	Porayette P...Perez-Atayde AR	24251637	2014
13	Geleophysic dysplasia associated with bilateral angle closure glaucoma. ⁶¹ ²⁴	Saricaoglu MS...Hasiripi H	23514648	2013
14	A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. ⁶¹ ²⁴	Lee T...Iijima K	23124041	2013
15	Genetic and molecular aspects of acromelic dysplasia. ⁶¹ ²⁴	Le Goff C...Cormier-Daire V	19396027	2009
16	ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. ²⁴ ⁶¹	Le Goff C...Cormier-Daire V	18677313	2008
17	Clinical and morphological phenotype of geleophysic dysplasia. ⁶¹ ²⁴	Giray O...Gurel D	18510828	2008
18	Geleophysic dysplasia: a patient with a severe form of the disorder. ²⁴ ⁶¹	Panagopoulos P...Antsaklis A	16368598	2005
19	Natural history of cardiac involvement in geleophysic dysplasia. ²⁴ ⁶¹	Scott A...Crow YJ	15690380	2005
20	Ocular findings in geleophysic dysplasia. ⁶¹ ²⁴	Zhang X...Lin M	15088061	2004
21	Multiple trigger fingers associated with geleophysic dysplasia. ⁶¹ ²⁴	Matsui Y...Yasui N	12136306	2002
22	Perthes-like changes in geleophysic dysplasia. ⁶¹ ²⁴	Keret D...Ezra E	11943981	2002
23	Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. ⁶¹ ²⁴	Titomanlio L...Parenti G	10440835	1999
24	Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. ²⁴ ⁶¹	Rennie AC...Tolmie JL	9399356	1997
25	Patients with geleophysic dysplasia are not always geleophysic. ²⁴ ⁶¹	Santolaya JM...Bilbao FJ	9295082	1997
26	Geleophysic dysplasia vs. Myhre syndrome. ²⁴ ⁶¹	Figuera LE	8923952	1996
27	Clinical and ultrastructural findings in three patients with geleophysic dysplasia. ²⁴ ⁶¹	Pontz BF...Spranger J	8723086	1996
28	Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ⁶¹ ²⁴	Hennekam RC...Oorthuys JW	8777926	1996
29	Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. ²⁴ ⁶¹	Rosser EM...Donnai D	8533820	1995
30	Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. ⁶	Lee B...Hollister DW	1852206	1991
31	Geleophysic dysplasia: a further case. ⁶¹ ²⁴	Lipson A...Kozlowski K	2019943	1991
32	Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. ⁶¹ ²⁴	Shohat M...Rimoin DL	2380821	1990
33	Geleophysic dysplasia. ⁶¹ ²⁴	Wraith JE...Sardharwalla IB	2090119	1990
34	Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ²⁴ ⁶¹	Lipson AH...Kozlowski K	3130853	1987
35	Narrow trachea in mucopolysaccharidoses. ²⁴ ⁶¹	Peters ME...Adkins W	3923421	1985
36	Familial recurrence of geleophysic dysplasia. ⁶¹ ²⁴	Koiffmann CP...Pupo AA	6507494	1984
37	Geleophysic dysplasia. ²⁴ ⁶¹	Spranger J...Opitz JM	6507495	1984
38	Acrofacial dysplasia resembling geleophysic dysplasia. ⁶¹ ²⁴	Spranger J...Kallfelz HC	6507496	1984
39	Geleophysic dwarfism--a "focal" mucopolysaccharidosis? ²⁴ ⁶¹	Spranger JW...Opitz JM	4104008	1971
40	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
41	Chondrodysplasias and TGFβ signaling. ²⁴	Le Goff C...Cormier-Daire V	25798233	2015
42	Specificity of latent TGF-β binding protein (LTBP) incorporation into matrix: role of fibrillins and fibronectin. ²⁴	Zilberberg L...Rifkin DB	22495824	2012
43	Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. ²⁴	Le Goff C...Cormier-Daire V	21683322	2011
44	Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. ²⁴	Noor A...Vincent JB	19344874	2009
45	Latent TGF-beta binding proteins (LTBPs)-1 and -3 coordinate proliferation and osteogenic differentiation of human mesenchymal stem cells. ²⁴	Koli K...Keski-Oja J	18672106	2008
46	ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis. ²⁴	Koo BH...Apte SS	17509843	2007
47	ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. ²⁴	Dagoneau N...Cormier-Daire V	15368195	2004
48	A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family. ²⁴	Apte SS	15094112	2004
49	Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. ²⁴	Isogai Z...Sakai LY	12429738	2003
50	In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. ²⁴	Faivre L...Cormier-Daire V	12525539	2003

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Genes for Geleophysic Dysplasia

Genes related to Geleophysic Dysplasia (3 elite genes):

(show all 27)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FBN1	Fibrillin 1	Protein Coding	788.11	Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	25979247 20301776 1852206
2	ADAMTSL2	ADAMTS Like 2	Protein Coding	409.59	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Proteins Variants (show sections)
3	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	383.51	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
4	LTBP1	Latent Transforming Growth Factor Beta Binding Protein 1	Protein Coding	14.07	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	ADAMTS10	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10	Protein Coding	8.36	DISEASES inferred ¹⁵
6	TBRG1	Transforming Growth Factor Beta Regulator 1	Protein Coding	8.28	DISEASES inferred ¹⁵
7	ADAMTSL4	ADAMTS Like 4	Protein Coding	7.82	DISEASES inferred ¹⁵
8	ADAMTSL1	ADAMTS Like 1	Protein Coding	7.81	DISEASES inferred ¹⁵
9	ADAMTS17	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17	Protein Coding	7.73	DISEASES inferred ¹⁵
10	ADAMTSL3	ADAMTS Like 3	Protein Coding	7.53	DISEASES inferred ¹⁵
11	LOC113939944	Sharpr-MPRA Regulatory Region 9539	Biological Region	7.33	GeneCards inferred via : Variants (show sections)
12	ADAMTSL5	ADAMTS Like 5	Protein Coding	7.28	DISEASES inferred ¹⁵
13	LTBP2	Latent Transforming Growth Factor Beta Binding Protein 2	Protein Coding	7.19	DISEASES inferred ¹⁵
14	FBN2	Fibrillin 2	Protein Coding	7.18	DISEASES inferred ¹⁵
15	THSD4	Thrombospondin Type 1 Domain Containing 4	Protein Coding	7.17	DISEASES inferred ¹⁵
16	PAPLN	Papilin, Proteoglycan Like Sulfated Glycoprotein	Protein Coding	7.16	DISEASES inferred ¹⁵
17	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	6.62	GeneCards inferred via : Publications (show sections)
18	TSR1	TSR1 Ribosome Maturation Factor	Protein Coding	6.6	DISEASES inferred ¹⁵
19	TSR3	TSR3 Ribosome Maturation Factor	Protein Coding	6.48	DISEASES inferred ¹⁵
20	FBN3	Fibrillin 3	Protein Coding	6.32	DISEASES inferred ¹⁵
21	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	6.06	DISEASES inferred ¹⁵
22	ADAMTS20	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 20	Protein Coding	6.05	DISEASES inferred ¹⁵
23	B3GLCT	Beta 3-Glucosyltransferase	Protein Coding	5.98	DISEASES inferred ¹⁵
24	MFAP2	Microfibril Associated Protein 2	Protein Coding	5.94	DISEASES inferred ¹⁵
25	POFUT2	Protein O-Fucosyltransferase 2	Protein Coding	5.93	DISEASES inferred ¹⁵
26	TSR2	TSR2 Ribosome Maturation Factor	Protein Coding	5.8	DISEASES inferred ¹⁵
27	ADAMTS6	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 6	Protein Coding	5.76	DISEASES inferred ¹⁵

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Variations for Geleophysic Dysplasia

ClinVar genetic disease variations for Geleophysic Dysplasia:

⁶ (show top 50) (show all 198) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	FBN1	NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val)	SNV	Pathogenic/Likely pathogenic	430150	rs1131691804	15:48755320-48755320	15:48463123-48463123
2	FBN1	NM_000138.4(FBN1):c.7516G>A (p.Gly2506Ser)	SNV	Conflicting interpretations of pathogenicity	457262	rs756295016	15:48714203-48714203	15:48422006-48422006
3	FBN1	NM_000138.4(FBN1):c.2950G>A (p.Val984Ile)	SNV	Conflicting interpretations of pathogenicity	457184	rs747713929	15:48782180-48782180	15:48489983-48489983
4	FBN1	NM_000138.4(FBN1):c.4211-10C>T	SNV	Conflicting interpretations of pathogenicity	457205	rs28730793	15:48764883-48764883	15:48472686-48472686
5	FBN1	NM_000138.4(FBN1):c.4321G>A (p.Gly1441Arg)	SNV	Conflicting interpretations of pathogenicity	495607	rs372118067	15:48764763-48764763	15:48472566-48472566
6	FBN1	NM_000138.4(FBN1):c.7820-4G>A	SNV	Conflicting interpretations of pathogenicity	514647	rs750036723	15:48707968-48707968	15:48415771-48415771
7	FBN1	NM_000138.5(FBN1):c.*2045G>A	SNV	Conflicting interpretations of pathogenicity	884619		15:48701142-48701142	15:48408945-48408945
8	FBN1	NM_000138.5(FBN1):c.*779C>T	SNV	Conflicting interpretations of pathogenicity	885096		15:48702408-48702408	15:48410211-48410211
9	FBN1	NM_000138.5(FBN1):c.*43A>T	SNV	Conflicting interpretations of pathogenicity	888468		15:48703144-48703144	15:48410947-48410947
10	FBN1	NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)	SNV	Conflicting interpretations of pathogenicity	884752		15:48936876-48936876	15:48644679-48644679
11	FBN1	NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)	SNV	Conflicting interpretations of pathogenicity	885690		15:48936929-48936929	15:48644732-48644732
12	FBN1	NM_000138.5(FBN1):c.3712+9G>T	SNV	Conflicting interpretations of pathogenicity	887011		15:48777562-48777562	15:48485365-48485365
13	FBN1	NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp)	SNV	Conflicting interpretations of pathogenicity	16445	rs61746008	15:48704816-48704816	15:48412619-48412619
14	FBN1	NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	SNV	Conflicting interpretations of pathogenicity	16451	rs137854475	15:48779352-48779352	15:48487155-48487155
15	FBN1	NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)	SNV	Conflicting interpretations of pathogenicity	36060	rs112287730	15:48782174-48782174	15:48489977-48489977
16	FBN1	NM_000138.5(FBN1):c.510C>T (p.Tyr170=)	SNV	Conflicting interpretations of pathogenicity	36086	rs111671429	15:48888508-48888508	15:48596311-48596311
17	FBN1	NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)	SNV	Conflicting interpretations of pathogenicity	36104	rs112084407	15:48725102-48725102	15:48432905-48432905
18	FBN1	NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)	SNV	Conflicting interpretations of pathogenicity	36132	rs363847	15:48703301-48703301	15:48411104-48411104
19	FBN1	NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)	SNV	Conflicting interpretations of pathogenicity	36133	rs12324002	15:48818329-48818329	15:48526132-48526132
20	FBN1	NM_000138.5(FBN1):c.2175T>C (p.Asn725=)	SNV	Conflicting interpretations of pathogenicity	42298	rs140606	15:48789581-48789581	15:48497384-48497384
21	FBN1	NM_000138.5(FBN1):c.2895G>A (p.Glu965=)	SNV	Conflicting interpretations of pathogenicity	42320	rs140591	15:48782235-48782235	15:48490038-48490038
22	FBN1	NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)	SNV	Conflicting interpretations of pathogenicity	42355	rs201273753	15:48764814-48764814	15:48472617-48472617
23	FBN1	NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)	SNV	Conflicting interpretations of pathogenicity	42356	rs377338217	15:48764778-48764778	15:48472581-48472581
24	FBN1	NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)	SNV	Conflicting interpretations of pathogenicity	42367	rs183306990	15:48760242-48760242	15:48468045-48468045
25	FBN1	NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)	SNV	Conflicting interpretations of pathogenicity	42408	rs363824	15:48725121-48725121	15:48432924-48432924
26	FBN1	NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)	SNV	Conflicting interpretations of pathogenicity	42334	rs2228241	15:48779550-48779550	15:48487353-48487353
27	FBN1	NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)	SNV	Conflicting interpretations of pathogenicity	42335	rs140396599	15:48779549-48779549	15:48487352-48487352
28	FBN1	NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)	SNV	Conflicting interpretations of pathogenicity	42439	rs145105768	15:48704921-48704921	15:48412724-48412724
29	FBN1	NM_000138.4(FBN1):c.-176A>T	SNV	Conflicting interpretations of pathogenicity	137300	rs560004254	15:48937142-48937142	15:48644945-48644945
30	FBN1	NM_000138.4(FBN1):c.3590-8T>C	SNV	Conflicting interpretations of pathogenicity	137306	rs140600	15:48777701-48777701	15:48485504-48485504
31	FBN1	NM_000138.4(FBN1):c.7846A>G (p.Ile2616Val)	SNV	Conflicting interpretations of pathogenicity	161237	rs143677764	15:48707938-48707938	15:48415741-48415741
32	FBN1	NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg)	SNV	Conflicting interpretations of pathogenicity	161244	rs146726731	15:48812976-48812976	15:48520779-48520779
33	FBN1	NM_000138.5(FBN1):c.247+10T>C	SNV	Conflicting interpretations of pathogenicity	178035	rs367618012	15:48905197-48905197	15:48613000-48613000
34	FBN1	NM_000138.4(FBN1):c.5917+3A>G	SNV	Conflicting interpretations of pathogenicity	199950	rs202158568	15:48737570-48737570	15:48445373-48445373
35	FBN1	NM_000138.4(FBN1):c.4214T>G (p.Leu1405Arg)	SNV	Conflicting interpretations of pathogenicity	200041	rs767606368	15:48764870-48764870	15:48472673-48472673
36	FBN1	NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly)	SNV	Conflicting interpretations of pathogenicity	200027	rs200342067	15:48773926-48773926	15:48481729-48481729
37	FBN1	NM_000138.4(FBN1):c.902G>T (p.Gly301Val)	SNV	Conflicting interpretations of pathogenicity	199960	rs142888621	15:48818413-48818413	15:48526216-48526216
38	FBN1	NM_000138.5(FBN1):c.6314-15G>A	SNV	Conflicting interpretations of pathogenicity	228686	rs200841830	15:48729599-48729599	15:48437402-48437402
39	FBN1	NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys)	SNV	Conflicting interpretations of pathogenicity	237106	rs187553035	15:48704843-48704843	15:48412646-48412646
40	FBN1	NM_000138.4(FBN1):c.3936C>T (p.Ser1312=)	SNV	Conflicting interpretations of pathogenicity	237089	rs779913610	15:48773880-48773880	15:48481683-48481683
41	FBN1	NM_000138.4(FBN1):c.1884C>T (p.Cys628=)	SNV	Conflicting interpretations of pathogenicity	237081	rs150421653	15:48797298-48797298	15:48505101-48505101
42	FBN1	NM_000138.4(FBN1):c.783T>C (p.Asn261=)	SNV	Conflicting interpretations of pathogenicity	237105	rs113721547	15:48826356-48826356	15:48534159-48534159
43	FBN1	NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met)	SNV	Conflicting interpretations of pathogenicity	263832	rs143007898	15:48703440-48703440	15:48411243-48411243
44	FBN1	NM_000138.4(FBN1):c.7056C>T (p.Ser2352=)	SNV	Conflicting interpretations of pathogenicity	263431	rs149697299	15:48719912-48719912	15:48427715-48427715
45	FBN1	NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser)	SNV	Conflicting interpretations of pathogenicity	263632	rs375996640	15:48780684-48780684	15:48488487-48488487
46	FBN1	NM_000138.4(FBN1):c.2094G>T (p.Pro698=)	SNV	Conflicting interpretations of pathogenicity	264529	rs144775475	15:48796003-48796003	15:48503806-48503806
47	FBN1	NM_000138.4(FBN1):c.4998C>T (p.Thr1666=)	SNV	Conflicting interpretations of pathogenicity	281682	rs141925790	15:48756163-48756163	15:48463966-48463966
48	FBN1	NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln)	SNV	Conflicting interpretations of pathogenicity	199954	rs370096856	15:48704807-48704807	15:48412610-48412610
49	FBN1	NM_000138.4(FBN1):c.*2395G>A	SNV	Conflicting interpretations of pathogenicity	316306	rs184719603	15:48700792-48700792	15:48408595-48408595
50	FBN1	NM_000138.4(FBN1):c.*2024A>G	SNV	Conflicting interpretations of pathogenicity	316316	rs558488257	15:48701163-48701163	15:48408966-48408966

Sources

Expression for Geleophysic Dysplasia

Search GEO for disease gene expression data for Geleophysic Dysplasia.

Sources

Pathways for Geleophysic Dysplasia

Pathways related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

(show all 17)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.64	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1 FBN3
2	Metabolism of proteins ⁶⁵ Show member pathways Post-translational protein modification ⁶⁵	13.63	THSD4 TGFB1 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2
3	HIV Life Cycle ⁶⁵ Show member pathways 2-LTR circle formation ⁶⁵ APOBEC3G mediated resistance to HIV-1 infection ⁶⁵ Assembly Of The HIV Virion ⁶⁵ Binding and entry of HIV virion ⁶⁵ Disease ⁶⁵ Diseases of signal transduction ⁶⁵ Early Phase of HIV Life Cycle ⁶⁵ HIV Infection ⁶⁵ Host Interactions of HIV factors ⁶⁵ Infectious disease ⁶⁵ Integration of provirus ⁶⁵ Late Phase of HIV Life Cycle ⁶⁵	13.54	THSD4 TGFB1 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2
4	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	12.93	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1 FBN3
5	p70S6K Signaling ⁶³ Show member pathways mTOR Pathway ⁶³ Renin-Angiotensin Pathway ⁶³	12.84	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
6	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	12.6	TGFB1 LTBP3 LTBP2 LTBP1 FBN3 FBN2
7	NF-KappaB Family Pathway ⁶³ Show member pathways NF-KappaB (p50-p65) Pathway ⁶³	12.53	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
8	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ¹	12.23	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
9	O-linked glycosylation ⁶⁵ Show member pathways O-linked glycosylation of mucins ⁶⁵	12.12	THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
10	Immune response IFN alpha/beta signaling pathway ²² Show member pathways Cytokine Network ⁶³ Interferon alpha/beta signaling ⁶⁵ Regulation of IFNA signaling ⁶⁵	12.1	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
11	Diseases of glycosylation ⁶⁵ Show member pathways Diseases associated with O-glycosylation of proteins ⁶⁵	11.92	THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
12	TGF-beta signaling pathway (KEGG) ³⁶	11.73	THSD4 TGFB1 LTBP1 FBN1
13	G-protein signaling_RhoA regulation pathway ²²	11.57	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
14	Elastic fibre formation ⁶⁵ Show member pathways Molecules associated with elastic fibres ⁶⁵	11.36	TGFB1 LTBP3 LTBP2 LTBP1 FBN3 FBN2
15	Hypothesized Pathways in Pathogenesis of Cardiovascular Disease ¹	11.12	LTBP2 LTBP1 FBN3 FBN2 FBN1
16	O-glycosylation of TSR domain-containing proteins ⁶⁵ Show member pathways Defective B3GALTL causes Peters-plus syndrome (PpS) ⁶⁵	11.11	THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
17	G-protein signaling_Rap2B regulation pathway ²²	10.87	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1 FBN3

Sources

GO Terms for Geleophysic Dysplasia

Cellular components related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	10.06	THSD4 TGFB1 PAPLN LTBP3 LTBP2 LTBP1
2	collagen-containing extracellular matrix	GO:0062023	9.91	THSD4 TGFB1 LTBP3 LTBP2 LTBP1 FBN2
3	endoplasmic reticulum lumen	GO:0005788	9.62	LTBP1 FBN1 ADAMTSL4 ADAMTSL1
4	extracellular matrix	GO:0031012	9.5	THSD4 TGFB1 PAPLN LTBP2 LTBP1 FBN3
5	microfibril	GO:0001527	9.43	THSD4 LTBP1 FBN2 FBN1 ADAMTSL5 ADAMTS10

Biological processes related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	9.76	THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
2	anatomical structure morphogenesis	GO:0009653	9.61	FBN3 FBN2 FBN1
3	transforming growth factor beta receptor signaling pathway	GO:0007179	9.58	TGFB1 LTBP3 LTBP2
4	elastic fiber assembly	GO:0048251	9.37	THSD4 LTBP3
5	extracellular matrix organization	GO:0030198	9.36	THSD4 PAPLN FBN2 FBN1 ADAMTSL5 ADAMTSL4
6	embryonic eye morphogenesis	GO:0048048	9.32	FBN2 FBN1
7	cellular response to insulin-like growth factor stimulus	GO:1990314	9.26	TGFB1 FBN1
8	sequestering of TGFbeta in extracellular matrix	GO:0035583	9.13	LTBP1 FBN2 FBN1

Molecular functions related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	peptidase activity	GO:0008233	9.86	THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
2	calcium ion binding	GO:0005509	9.85	LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
3	growth factor binding	GO:0019838	9.5	LTBP3 LTBP2 LTBP1
4	transforming growth factor beta binding	GO:0050431	9.43	LTBP3 LTBP1
5	extracellular matrix structural constituent	GO:0005201	9.43	THSD4 LTBP2 LTBP1 FBN3 FBN2 FBN1
6	extracellular matrix constituent conferring elasticity	GO:0030023	9.4	FBN2 FBN1
7	microfibril binding	GO:0050436	9.33	LTBP2 LTBP1 ADAMTSL2
8	metalloendopeptidase activity	GO:0004222	9.28	THSD4 PAPLN ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2

Sources

Sources for Geleophysic Dysplasia

¹ BioSystems

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