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

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Aliases & Classifications for Geleophysic Dysplasia

MalaCards integrated aliases for Geleophysic Dysplasia:

Name: Geleophysic Dysplasia ¹¹ ²⁴ ¹⁹ ⁴² ⁵⁸ ²⁸ ⁵ ¹⁴ ³⁸ ⁷¹

Geleophysic Dwarfism ¹¹ ¹⁹ ⁴² ⁵⁸ ⁷⁵ ⁵

Gphysd ¹¹

Characteristics:

Inheritance:

Autosomal dominant,Autosomal recessive ⁵⁸

Prevelance:

<1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Childhood ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

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 ¹¹ DOID:0111724

SNOMED-CT ⁶⁸ 28557005

MESH via Orphanet ⁴⁴ C537677

ICD10 via Orphanet ³² Q87.1

UMLS via Orphanet ⁷² C3489726

Orphanet ⁵⁸ ORPHA2623

UMLS ⁷¹ C3489726

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Summaries for Geleophysic Dysplasia

MedlinePlus Genetics: ⁴² 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 2 and geleophysic dysplasia 3. An important gene associated with Geleophysic Dysplasia is ADAMTSL2 (ADAMTS Like 2), and among its related pathways/superpathways are Metabolism of proteins and Disease. Affiliated tissues include bone, heart and skin, and related phenotypes are limbs/digits/tail and craniofacial

Disease Ontology: ¹¹ A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.

GARD: ¹⁹ A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').

Orphanet: ⁵⁸ A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').

Wikipedia: ⁷⁵ 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 91)

#	Related Disease	Score	Top Affiliating Genes
1	geleophysic dysplasia 2	32.7	TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2 ADAMTS17
2	geleophysic dysplasia 3	32.7	TSR3 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
3	geleophysic dysplasia 1	32.6	TSR3 TBRG1 POFUT2 LTBP3 LTBP2 FBN1
4	acromicric dysplasia	30.6	THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
5	tracheal stenosis	30.5	TGFB1 TBRG1 LTBP3 FBN1 ADAMTSL2 ADAMTS17
6	brachydactyly	30.5	LTBP2 LTBP1 FBN1 B3GLCT ADAMTSL4 ADAMTSL2
7	osteochondrodysplasia	30.4	TBRG1 LTBP3 LTBP2 FBN2 FBN1 ADAMTSL2
8	myopia	30.3	TGFB1 LTBP2 FBN1 ADAMTS17 ADAMTS10
9	marfan syndrome	30.3	THSD4 TGFB1 LTBP2 FBN2 FBN1
10	aortic valve insufficiency	29.9	FBN2 FBN1
11	lens subluxation	29.8	LTBP3 LTBP2 FBN2 FBN1 ADAMTSL4 ADAMTSL2
12	stiff skin syndrome	29.5	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1 FBN2
13	weill-marchesani syndrome	29.2	THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
14	aortic aneurysm, familial thoracic 1	29.1	THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
15	isolated ectopia lentis	29.1	THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
16	peters-plus syndrome	28.6	TSR3 THSD4 POFUT2 PAPLN LTBP3 LTBP2
17	chromosome 8q22.1 duplication syndrome	11.1
18	acromelic dysplasia	10.4
19	lysosomal storage disease	10.3
20	aortic aneurysm	10.3	TGFB1 FBN2 FBN1
21	achard syndrome	10.3	FBN2 FBN1
22	morgagni cataract	10.3	FBN1 ADAMTSL4
23	aqueous misdirection	10.3	LTBP2 ADAMTSL4
24	weill-marchesani syndrome 1	10.3	LTBP2 FBN1 ADAMTS10
25	spastic paraplegia 76, autosomal recessive	10.3	LTBP3 LTBP2
26	dental anomalies and short stature	10.3	LTBP3 LTBP2 FBN1
27	tricuspid valve prolapse	10.2	FBN2 FBN1
28	iris disease	10.2	LTBP3 LTBP2 FBN1
29	primary congenital glaucoma	10.2	LTBP3 LTBP2 ADAMTS10
30	cutis laxa	10.2	TGFB1 LTBP3 LTBP1 FBN1
31	postural orthostatic tachycardia syndrome	10.2	FBN2 FBN1
32	tracheal disease	10.2	TBRG1 FBN1 ADAMTSL2 ADAMTS10
33	cutis laxa, autosomal recessive, type ic	10.2	LTBP3 LTBP2 LTBP1 FBN1
34	autosomal recessive cutis laxa type i	10.2	LTBP3 LTBP2 LTBP1 FBN1
35	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.2
36	loeys-dietz syndrome 1	10.2	FBN2 FBN1
37	phacogenic glaucoma	10.2	LTBP3 LTBP2 LTBP1 FBN1
38	phacolytic glaucoma	10.2	THSD4 FBN1 B3GLCT
39	brachyolmia	10.2	LTBP3 LTBP2
40	ectopia lentis 2, isolated, autosomal recessive	10.2	THSD4 FBN1 ADAMTSL4 ADAMTS10
41	ectopia lentis 1, isolated, autosomal dominant	10.2	THSD4 FBN1 ADAMTSL4 ADAMTS10
42	radial nerve lesion	10.2	PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1
43	radial neuropathy	10.2	PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1
44	axenfeld-rieger syndrome	10.2	LTBP3 LTBP2 B3GLCT
45	aniridia 1	10.2	LTBP3 LTBP2 B3GLCT
46	hydrophthalmos	10.1	LTBP3 LTBP2 B3GLCT ADAMTS10
47	orthostatic intolerance	10.1	LTBP3 LTBP2 FBN2 FBN1
48	retinal detachment	10.1	TGFB1 FBN1 ADAMTSL4
49	megalocornea	10.1	LTBP3 LTBP2 FBN1 ADAMTS17 ADAMTS10
50	stickler syndrome, type i	10.1	FBN2 FBN1

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:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.13	ADAMTS10 ADAMTS17 ADAMTS20 ADAMTSL1 ADAMTSL2 ADAMTSL3
2	no effect	GR00402-S-2	10.13	ADAMTS10 ADAMTS20 ADAMTSL1 ADAMTSL2 ADAMTSL3 ADAMTSL4

MGI Mouse Phenotypes related to Geleophysic Dysplasia:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	9.87	ADAMTS17 ADAMTS20 ADAMTSL2 B3GLCT FBN1 FBN2
2	craniofacial	MP:0005382	9.86	ADAMTS17 ADAMTS20 B3GLCT FBN1 FBN2 LTBP1
3	skeleton	MP:0005390	9.85	ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL3 B3GLCT FBN1
4	mortality/aging	MP:0010768	9.77	ADAMTS10 ADAMTS17 ADAMTS20 ADAMTSL2 B3GLCT FBN1
5	integument	MP:0010771	9.32	ADAMTS10 ADAMTS17 ADAMTS20 ADAMTSL4 B3GLCT FBN1

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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 ²⁸

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Anatomical Context for Geleophysic Dysplasia

Organs/tissues related to Geleophysic Dysplasia:

MalaCards : Bone, Heart, Skin, Liver, Trachea, Eye

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Publications for Geleophysic Dysplasia

Articles related to Geleophysic Dysplasia:

(show top 50) (show all 82)

#	Title	Authors	PMID	Year
1	Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. ⁶² ²⁴ ⁵	Ben-Salem S...Al-Gazali L	24014090	2013
2	Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. ⁶² ²⁴ ⁵	Allali S...Cormier-Daire V	21415077	2011
3	ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. ⁶² ²⁴ ⁵	Le Goff C...Cormier-Daire V	18677313	2008
4	Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. ²⁴ ⁵	Le Goff C...Cormier-Daire V	21683322	2011
5	Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. ⁶² ⁵	Legare JM...Bartlett HL	30195254	2018
6	Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. ⁶² ⁵	de Bruin C...Jorge AA	27245183	2016
7	A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. ⁶² ²⁴	Cheng SW...Chung BH	29191498	2018
8	A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. ⁶² ²⁴	Li D...Yang Y	28917829	2017
9	Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. ⁶² ²⁴	McInerney-Leo AM...Cormier-Daire V	27068007	2016
10	Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. ⁶² ²⁴	Mackenroth L...Tzschach A	27057656	2016
11	Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. ⁶² ²⁴	Garcia-Ortiz L...de la Concepcion A Yerena M	25850559	2015
12	Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. ⁶² ²⁴	Elhoury ME...Galal MO	24192049	2015
13	Novel mutations in geleophysic dysplasia type 1. ⁶² ²⁴	Porayette P...Perez-Atayde AR	24251637	2014
14	Geleophysic dysplasia associated with bilateral angle closure glaucoma. ⁶² ²⁴	Saricaoglu MS...Hasiripi H	23514648	2013
15	A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. ⁶² ²⁴	Lee T...Iijima K	23124041	2013
16	Genetic and molecular aspects of acromelic dysplasia. ⁶² ²⁴	Le Goff C...Cormier-Daire V	19396027	2009
17	Clinical and morphological phenotype of geleophysic dysplasia. ⁶² ²⁴	Giray O...Gurel D	18510828	2008
18	Geleophysic dysplasia: a patient with a severe form of the disorder. ⁶² ²⁴	Panagopoulos P...Antsaklis A	16368598	2005
19	Natural history of cardiac involvement in geleophysic dysplasia. ⁶² ²⁴	Scott A...Crow YJ	15690380	2005
20	Ocular findings in geleophysic dysplasia. ⁶² ²⁴	Zhang X...Lin M	15088061	2004
21	Multiple trigger fingers associated with geleophysic dysplasia. ⁶² ²⁴	Matsui Y...Yasui N	12136306	2002
22	Perthes-like changes in geleophysic dysplasia. ⁶² ²⁴	Keret D...Ezra E	11943981	2002
23	Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. ⁶² ²⁴	Titomanlio L...Parenti G	10440835	1999
24	Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. ⁶² ²⁴	Rennie AC...Tolmie JL	9399356	1997
25	Patients with geleophysic dysplasia are not always geleophysic. ⁶² ²⁴	Santolaya JM...Bilbao FJ	9295082	1997
26	Geleophysic dysplasia vs. Myhre syndrome. ⁶² ²⁴	Figuera LE	8923952	1996
27	Clinical and ultrastructural findings in three patients with geleophysic dysplasia. ⁶² ²⁴	Pontz BF...Spranger J	8723086	1996
28	Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ⁶² ²⁴	Hennekam RC...Oorthuys JW	8777926	1996
29	Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. ⁶² ²⁴	Rosser EM...Donnai D	8533820	1995
30	Geleophysic dysplasia: a further case. ⁶² ²⁴	Lipson A...Kozlowski K	2019943	1991
31	Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. ⁶² ²⁴	Shohat M...Rimoin DL	2380821	1990
32	Geleophysic dysplasia. ⁶² ²⁴	Wraith JE...Sardharwalla IB	2090119	1990
33	Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ⁶² ²⁴	Lipson AH...Kozlowski K	3130853	1987
34	Narrow trachea in mucopolysaccharidoses. ⁶² ²⁴	Peters ME...Adkins W	3923421	1985
35	Familial recurrence of geleophysic dysplasia. ⁶² ²⁴	Koiffmann CP...Pupo AA	6507494	1984
36	Acrofacial dysplasia resembling geleophysic dysplasia. ⁶² ²⁴	Spranger J...Kallfelz HC	6507496	1984
37	Geleophysic dysplasia. ⁶² ²⁴	Spranger J...Opitz JM	6507495	1984
38	Geleophysic dwarfism--a "focal" mucopolysaccharidosis? ⁶² ²⁴	Spranger JW...Opitz JM	4104008	1971
39	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
40	Chondrodysplasias and TGFβ signaling. ²⁴	Le Goff C...Cormier-Daire V	25798233	2015
41	Specificity of latent TGF-β binding protein (LTBP) incorporation into matrix: role of fibrillins and fibronectin. ²⁴	Zilberberg L...Rifkin DB	22495824	2012
42	Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. ²⁴	Noor A...Vincent JB	19344874	2009
43	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
44	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
45	ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. ²⁴	Dagoneau N...Cormier-Daire V	15368195	2004
46	A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family. ²⁴	Apte SS	15094112	2004
47	Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. ²⁴	Isogai Z...Sakai LY	12429738	2003
48	In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. ²⁴	Faivre L...Cormier-Daire V	12525539	2003
49	Mitral stenosis in an atypical case of gargoylism: a case report with pathologic and histochemical studies of the cardiac tissues. ²⁴	VANACE PW...WAGNER BM	13841169	1960
50	The critical role of the TB5 domain of fibrillin-1 in endochondral ossification. ⁶²	Delhon L...Le Goff C	35660865	2022

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Genes for Geleophysic Dysplasia

Genes related to Geleophysic Dysplasia (3 elite genes):

(show all 31)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ADAMTSL2	ADAMTS Like 2	Protein Coding	821.41	Pathogenic/Likely pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Proteins (show sections)	18677313 21415077 24014090 (more) 30195254 20301776
2	FBN1	Fibrillin 1	Protein Coding	399.64	Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	20301776 21683322 27245183
3	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	374.26	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	27068007
4	LTBP1	Latent Transforming Growth Factor Beta Binding Protein 1	Protein Coding	14.48	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
5	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	10.15	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
6	TBRG1	Transforming Growth Factor Beta Regulator 1	Protein Coding	8.15	DISEASES inferred ¹⁴
7	ADAMTS10	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10	Protein Coding	8.06	DISEASES inferred ¹⁴
8	ADAMTS17	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17	Protein Coding	7.56	DISEASES inferred ¹⁴
9	ADAMTSL1	ADAMTS Like 1	Protein Coding	7.46	DISEASES inferred ¹⁴
10	ADAMTSL4	ADAMTS Like 4	Protein Coding	7.35	DISEASES inferred ¹⁴
11	LTBP2	Latent Transforming Growth Factor Beta Binding Protein 2	Protein Coding	7.19	DISEASES inferred ¹⁴
12	ADAMTSL3	ADAMTS Like 3	Protein Coding	7.16	DISEASES inferred ¹⁴
13	THSD4	Thrombospondin Type 1 Domain Containing 4	Protein Coding	7.07	DISEASES inferred ¹⁴
14	PAPLN	Papilin, Proteoglycan Like Sulfated Glycoprotein	Protein Coding	7.02	DISEASES inferred ¹⁴
15	ADAMTSL5	ADAMTS Like 5	Protein Coding	6.88	DISEASES inferred ¹⁴
16	FBN2	Fibrillin 2	Protein Coding	6.84	DISEASES inferred ¹⁴
17	TSR3	TSR3 Ribosome Maturation Factor	Protein Coding	6.5	DISEASES inferred ¹⁴
18	POFUT2	Protein O-Fucosyltransferase 2	Protein Coding	6.36	DISEASES inferred ¹⁴
19	B3GLCT	Beta 3-Glucosyltransferase	Protein Coding	6.26	DISEASES inferred ¹⁴
20	ADAMTS20	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 20	Protein Coding	6.14	DISEASES inferred ¹⁴
21	TSR1	TSR1 Ribosome Maturation Factor	Protein Coding	6.01	DISEASES inferred ¹⁴
22	ADAMTS6	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 6	Protein Coding	5.86	DISEASES inferred ¹⁴
23	ADAMTS2	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2	Protein Coding	5.83	DISEASES inferred ¹⁴
24	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	5.75	DISEASES inferred ¹⁴
25	FBN3	Fibrillin 3	Protein Coding	5.71	DISEASES inferred ¹⁴
26	LTBP4	Latent Transforming Growth Factor Beta Binding Protein 4	Protein Coding	5.64	DISEASES inferred ¹⁴
27	ADAMTS9	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 9	Protein Coding	5.63	DISEASES inferred ¹⁴
28	ADAMTS7	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 7	Protein Coding	5.33	DISEASES inferred ¹⁴
29	EFEMP2	EGF Containing Fibulin Extracellular Matrix Protein 2	Protein Coding	5.31	DISEASES inferred ¹⁴
30	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	5.3	DISEASES inferred ¹⁴
31	MFAP2	Microfibril Associated Protein 2	Protein Coding	5.22	DISEASES inferred ¹⁴

Sources

Variations for Geleophysic Dysplasia

ClinVar genetic disease variations for Geleophysic Dysplasia:

⁵ (show top 50) (show all 345)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ADAMTSL2	NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln)	SNV	Pathogenic	30944	rs387907064	GRCh37: 9:136402651-136402651 GRCh38: 9:133537529-133537529
2	ADAMTSL2	NM_014694.4(ADAMTSL2):c.661C>T (p.Arg221Cys)	SNV	Pathogenic	30945	rs387907065	GRCh37: 9:136406102-136406102 GRCh38: 9:133540980-133540980
3	ADAMTSL2	NM_014694.4(ADAMTSL2):c.234-2A>G	SNV	Pathogenic	427943	rs775621284	GRCh37: 9:136403469-136403469 GRCh38: 9:133538347-133538347
4	ADAMTSL2	NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter)	SNV	Pathogenic	697	rs113994125	GRCh37: 9:136435623-136435623 GRCh38: 9:133570501-133570501
5	ADAMTSL2	NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg)	SNV	Pathogenic	696	rs113994124	GRCh37: 9:136435468-136435468 GRCh38: 9:133570346-133570346
6	ADAMTSL2	NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)	SNV	Pathogenic	695	rs113994123	GRCh37: 9:136404923-136404923 GRCh38: 9:133539801-133539801
7	ADAMTSL2	NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu)	SNV	Pathogenic	693	rs113994121	GRCh37: 9:136405747-136405747 GRCh38: 9:133540625-133540625
8	ADAMTSL2	NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn)	SNV	Pathogenic	624558	rs761886575	GRCh37: 9:136405806-136405806 GRCh38: 9:133540684-133540684
9	ADAMTSL2	NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter)	SNV	Pathogenic	915302	rs953298656	GRCh37: 9:136405836-136405836 GRCh38: 9:133540714-133540714
10	ADAMTSL2	NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His)	SNV	Pathogenic/Likely Pathogenic	694	rs113994122	GRCh37: 9:136404921-136404921 GRCh38: 9:133539799-133539799
11	ADAMTSL2	NM_014694.4(ADAMTSL2):c.2737+1G>T	SNV	Likely Pathogenic	1162207		GRCh37: 9:136439110-136439110 GRCh38: 9:133573988-133573988
12	FBN1	NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)	SNV	Likely Pathogenic	430150	rs1131691804	GRCh37: 15:48755320-48755320 GRCh38: 15:48463123-48463123
13	ADAMTSL2	NM_014694.4(ADAMTSL2):c.337C>T (p.Arg113Cys)	SNV	Likely Pathogenic	1164089		GRCh37: 9:136404920-136404920 GRCh38: 9:133539798-133539798
14	FBN1	NM_000138.5(FBN1):c.723G>A (p.Thr241=)	SNV	Uncertain Significance	316389	rs757264206	GRCh37: 15:48829821-48829821 GRCh38: 15:48537624-48537624
15	FBN1	NM_000138.5(FBN1):c.589G>C (p.Gly197Arg)	SNV	Uncertain Significance	316390	rs886051251	GRCh37: 15:48829955-48829955 GRCh38: 15:48537758-48537758
16	FBN1	NM_000138.5(FBN1):c.*1398G>C	SNV	Uncertain Significance	316334	rs886051234	GRCh37: 15:48701789-48701789 GRCh38: 15:48409592-48409592
17	FBN1	NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)	SNV	Uncertain Significance	316363	rs886051244	GRCh37: 15:48707773-48707773 GRCh38: 15:48415576-48415576
18	FBN1	NM_000138.5(FBN1):c.*2221A>G	SNV	Uncertain Significance	316309	rs886051226	GRCh37: 15:48700966-48700966 GRCh38: 15:48408769-48408769
19	FBN1	NM_000138.5(FBN1):c.4336+11G>A	SNV	Uncertain Significance	316374	rs886051249	GRCh37: 15:48764737-48764737 GRCh38: 15:48472540-48472540
20	FBN1	NM_000138.5(FBN1):c.-70C>A	SNV	Uncertain Significance	316394	rs886051253	GRCh37: 15:48937036-48937036 GRCh38: 15:48644839-48644839
21	FBN1	NM_000138.4(FBN1):c.-389_-388TC[1]	MICROSAT	Uncertain Significance	316400	rs886051258	GRCh37: 15:48937974-48937977 GRCh38: 15:48645777-48645780
22	FBN1	NM_000138.4(FBN1):c.-371T>C	SNV	Uncertain Significance	316399	rs886051257	GRCh37: 15:48937961-48937961 GRCh38: 15:48645764-48645764
23	FBN1	NM_000138.5(FBN1):c.1602T>C (p.Cys534=)	SNV	Uncertain Significance	316384	rs377386372	GRCh37: 15:48802353-48802353 GRCh38: 15:48510156-48510156
24	FBN1	NM_000138.5(FBN1):c.*254C>T	SNV	Uncertain Significance	316357	rs886051243	GRCh37: 15:48702933-48702933 GRCh38: 15:48410736-48410736
25	FBN1	NM_000138.5(FBN1):c.*1706C>A	SNV	Uncertain Significance	316324	rs770825180	GRCh37: 15:48701481-48701481 GRCh38: 15:48409284-48409284
26	FBN1	NM_000138.4(FBN1):c.-319G>T	SNV	Uncertain Significance	316398	rs886051256	GRCh37: 15:48937909-48937909 GRCh38: 15:48645712-48645712
27	FBN1	NM_000138.5(FBN1):c.*2114T>A	SNV	Uncertain Significance	316312	rs886051227	GRCh37: 15:48701073-48701073 GRCh38: 15:48408876-48408876
28	FBN1	NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)	SNV	Uncertain Significance	316366	rs886051245	GRCh37: 15:48722938-48722938 GRCh38: 15:48430741-48430741
29	FBN1	NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)	SNV	Uncertain Significance	316369	rs756506237	GRCh37: 15:48733986-48733986 GRCh38: 15:48441789-48441789
30	FBN1	NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg)	SNV	Uncertain Significance	316373	rs886051248	GRCh37: 15:48748851-48748851 GRCh38: 15:48456654-48456654
31	FBN1	NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)	SNV	Uncertain Significance	155792	rs587782945	GRCh37: 15:48764771-48764771 GRCh38: 15:48472574-48472574
32	FBN1	NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile)	SNV	Uncertain Significance	316382	rs781698952	GRCh37: 15:48782227-48782227 GRCh38: 15:48490030-48490030
33	FBN1	NM_000138.5(FBN1):c.*2556G>A	SNV	Uncertain Significance	316300	rs886051221	GRCh37: 15:48700631-48700631 GRCh38: 15:48408434-48408434
34	FBN1	NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)	SNV	Uncertain Significance	316393	rs886051252	GRCh37: 15:48905231-48905231 GRCh38: 15:48613034-48613034
35	FBN1	NM_000138.5(FBN1):c.-136G>C	SNV	Uncertain Significance	316397	rs879283668	GRCh37: 15:48937102-48937102 GRCh38: 15:48644905-48644905
36	FBN1	NM_000138.5(FBN1):c.*268G>C	SNV	Uncertain Significance	316356	rs886051242	GRCh37: 15:48702919-48702919 GRCh38: 15:48410722-48410722
37	FBN1	NM_000138.5(FBN1):c.*2638T>C	SNV	Uncertain Significance	316297	rs886051219	GRCh37: 15:48700549-48700549 GRCh38: 15:48408352-48408352
38	FBN1	NM_000138.5(FBN1):c.*2091G>A	SNV	Uncertain Significance	316313	rs575922741	GRCh37: 15:48701096-48701096 GRCh38: 15:48408899-48408899
39	FBN1	NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys)	SNV	Uncertain Significance	316387	rs886051250	GRCh37: 15:48808514-48808514 GRCh38: 15:48516317-48516317
40	ADAMTSL2	NM_014694.4(ADAMTSL2):c.318G>A (p.Pro106=)	SNV	Uncertain Significance	976603	rs191009072	GRCh37: 9:136404901-136404901 GRCh38: 9:133539779-133539779
41	FBN1	NM_000138.5(FBN1):c.*724A>C	SNV	Uncertain Significance	316352	rs886051239	GRCh37: 15:48702463-48702463 GRCh38: 15:48410266-48410266
42	FBN1	NM_000138.5(FBN1):c.*948G>T	SNV	Uncertain Significance	316347	rs749224599	GRCh37: 15:48702239-48702239 GRCh38: 15:48410042-48410042
43	ADAMTSL2	NM_014694.4(ADAMTSL2):c.*4C>T	SNV	Uncertain Significance	1319779		GRCh37: 9:136439990-136439990 GRCh38: 9:133574868-133574868
44	ADAMTSL2	NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr)	SNV	Uncertain Significance	365570	rs200378599	GRCh37: 9:136401845-136401845 GRCh38: 9:133536723-133536723
45	FBN1	NM_000138.5(FBN1):c.*1943G>T	SNV	Uncertain Significance	316321	rs886051229	GRCh37: 15:48701244-48701244 GRCh38: 15:48409047-48409047
46	FBN1	NM_000138.5(FBN1):c.-132A>C	SNV	Uncertain Significance	316396	rs886051255	GRCh37: 15:48937098-48937098 GRCh38: 15:48644901-48644901
47	FBN1	NM_000138.5(FBN1):c.*938G>T	SNV	Uncertain Significance	316348	rs886051238	GRCh37: 15:48702249-48702249 GRCh38: 15:48410052-48410052
48	FBN1	NM_000138.5(FBN1):c.5788+4C>A	SNV	Uncertain Significance	316370	rs577301285	GRCh37: 15:48738899-48738899 GRCh38: 15:48446702-48446702
49	FBN1	NM_000138.5(FBN1):c.*2260C>A	SNV	Uncertain Significance	316308	rs886051225	GRCh37: 15:48700927-48700927 GRCh38: 15:48408730-48408730
50	FBN1	NM_000138.5(FBN1):c.*1733A>G	SNV	Uncertain Significance	316322	rs886051230	GRCh37: 15:48701454-48701454 GRCh38: 15:48409257-48409257

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 18)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of proteins ⁶⁶ Show member pathways Post-translational protein modification ⁶⁶	13.75	THSD4 TGFB1 POFUT2 LTBP1 FBN1 B3GLCT
2	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.65	THSD4 TGFB1 B3GLCT ADAMTSL5 ADAMTSL4 ADAMTSL3
3	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.95	FBN1 FBN2 LTBP1 LTBP2 LTBP3 TBRG1
4	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	12.86	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
5	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	12.62	TGFB1 LTBP3 LTBP2 LTBP1 FBN2 FBN1
6	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.57	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
7	Diseases of glycosylation ⁶⁶ Show member pathways Defective ALG1 causes CDG-1k ⁶⁶ Defective ALG11 causes CDG-1p ⁶⁶ Defective ALG12 causes CDG-1g ⁶⁶ Defective ALG14 causes ALG14-CMS ⁶⁶ Defective ALG2 causes CDG-1i ⁶⁶ Defective ALG3 causes CDG-1d ⁶⁶ Defective ALG6 causes CDG-1c ⁶⁶ Defective ALG8 causes CDG-1h ⁶⁶ Defective ALG9 causes CDG-1l ⁶⁶ Defective DPAGT1 causes CDG-1j, CMSTA2 ⁶⁶ Defective GNE causes sialuria, NK and IBM2 ⁶⁶ Defective MPDU1 causes CDG-1f ⁶⁶ Defective NEU1 causes sialidosis ⁶⁶ Defective RFT1 causes CDG-1n ⁶⁶ Diseases associated with glycosylation precursor biosynthesis ⁶⁶ Diseases associated with N-glycosylation of proteins ⁶⁶ Diseases of metabolism ⁶⁶ MPS IV - Morquio syndrome B ⁶⁶	12.5	THSD4 B3GLCT ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2
8	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	12.47	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
9	Signaling by TGFB family members ⁶⁶ Show member pathways Antagonism of Activin by Follistatin ⁶⁶ Signaling by Activin ⁶⁶ Signaling by TGF-beta Receptor Complex ⁶⁶ TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) ⁶⁶	12.32	TGFB1 LTBP3 LTBP2 LTBP1 FBN1
10	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ⁶¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ⁶¹	12.24	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
11	O-linked glycosylation of mucins ⁶⁶ Show member pathways Defective C1GALT1C1 causes TNPS ⁶⁶ Defective GALNT12 causes CRCS1 ⁶⁶ Defective GALNT3 causes HFTC ⁶⁶ mucin core 1 and core 2 O-glycosylation ⁶¹ mucin core 3 and core 4 O-glycosylation ⁶¹ O-linked glycosylation ⁶⁶	12.07	THSD4 POFUT2 B3GLCT ADAMTSL5 ADAMTSL4 ADAMTSL3
12	TGF-beta receptor signaling in skeletal dysplasias ⁷⁴ Show member pathways TGF-beta receptor signaling ⁷⁴	11.86	TGFB1 LTBP3 LTBP1 FBN1 ADAMTSL2 ADAMTS10
13	TGF-beta receptor signaling activates SMADs ⁶⁶ Show member pathways Downregulation of TGF-beta receptor signaling ⁶⁶ Loss of Function of SMAD2/3 in Cancer ⁶⁶ Loss of Function of TGFBR1 in Cancer ⁶⁶ Signaling by TGF-beta Receptor Complex in Cancer ⁶⁶ TGF-beta signaling pathway ⁷⁴ TGFBR1 LBD Mutants in Cancer ⁶⁶	11.83	FBN1 LTBP1 LTBP2 LTBP3 TGFB1
14	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.64	FBN1 FBN2 LTBP1 LTBP2 LTBP3 TGFB1
15	G-protein signaling_RhoA regulation pathway ²²	11.62	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
16	Diseases associated with O-glycosylation of proteins ⁶⁶ Show member pathways Defective B3GALTL causes PpS ⁶⁶ Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 ⁶⁶ O-glycosylation of TSR domain-containing proteins ⁶⁶	11.52	THSD4 POFUT2 B3GLCT ADAMTSL5 ADAMTSL4 ADAMTSL3
17	Hypothesized pathways in pathogenesis of cardiovascular disease ⁷⁴	11.1	LTBP2 LTBP1 FBN2 FBN1
18	G-protein signaling_Rap2B regulation pathway ²²	10.9	TGFB1 TBRG1 LTBP3 LTBP2 LTBP1 FBN2

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	10.43	THSD4 TGFB1 PAPLN LTBP3 LTBP2 LTBP1
2	collagen-containing extracellular matrix	GO:0062023	10.16	ADAMTS10 ADAMTS20 ADAMTSL4 FBN1 FBN2 LTBP1
3	extracellular matrix	GO:0031012	9.75	ADAMTS10 ADAMTS17 ADAMTS20 ADAMTSL2 ADAMTSL3 ADAMTSL4
4	microfibril	GO:0001527	9.7	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	elastic fiber assembly	GO:0048251	9.71	THSD4 LTBP3
2	embryonic eye morphogenesis	GO:0048048	9.67	FBN2 FBN1
3	extracellular matrix organization	GO:0030198	9.58	ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS20
4	fucose metabolic process	GO:0006004	9.56	POFUT2 B3GLCT
5	cellular response to insulin-like growth factor stimulus	GO:1990314	9.5	TGFB1 FBN1
6	protein O-linked fucosylation	GO:0036066	9.46	B3GLCT POFUT2
7	sequestering of TGFbeta in extracellular matrix	GO:0035583	9.43	FBN1 FBN2 LTBP1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:0005201	9.85	THSD4 LTBP2 LTBP1 FBN2 FBN1
2	metalloendopeptidase activity	GO:0004222	9.7	PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS20 ADAMTS17
3	extracellular matrix constituent conferring elasticity	GO:0030023	9.62	FBN2 FBN1
4	growth factor binding	GO:0019838	9.56	LTBP1 LTBP2 LTBP3
5	microfibril binding	GO:0050436	9.17	LTBP2 LTBP1 ADAMTSL5 ADAMTSL2

Sources

Sources for Geleophysic Dysplasia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: GLP001 MIFTS: 46	Geleophysic Dysplasia Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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