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

MCID: GLP001 MIFTS: 36	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 ²⁵ ²⁶ ⁶⁰ ³⁸ ³⁰ ⁶ ⁴¹ ⁷⁴

Geleophysic Dwarfism ²⁶ ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

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: ⁶⁰

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

KEGG ³⁸ H00900

MESH via Orphanet ⁴⁶ C537677

ICD10 via Orphanet ³⁵ Q87.1

UMLS via Orphanet ⁷⁵ C3489726

Orphanet ⁶⁰ ORPHA2623

UMLS ⁷⁴ C3489726

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Summaries for Geleophysic Dysplasia

Genetics Home Reference : ²⁶ 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.

MalaCards based summary : Geleophysic Dysplasia, also known as geleophysic dwarfism, is related to weill-marchesani syndrome and acromicric dysplasia. An important gene associated with Geleophysic Dysplasia is ADAMTSL2 (ADAMTS Like 2), and among its related pathways/superpathways are Phospholipase-C Pathway and NF-KappaB Family Pathway. Affiliated tissues include skin, bone and heart, and related phenotypes are mortality/aging and craniofacial

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 all 22)

#	Related Disease	Score	Top Affiliating Genes
1	weill-marchesani syndrome	30.5	ADAMTSL2 FBN1
2	acromicric dysplasia	30.2	FBN1 LOC105370809 LTBP3
3	geleophysic dysplasia 1	12.7
4	geleophysic dysplasia 2	12.7
5	geleophysic dysplasia 3	12.6
6	geleophysic dwarfism	11.8
7	chromosome 8q22.1 duplication syndrome	11.2
8	mucopolysaccharidosis-plus syndrome	10.2
9	dwarfism	10.2
10	myhre syndrome	10.1
11	brown syndrome	10.1
12	monocular esotropia	10.1
13	accommodative esotropia	10.1
14	esotropia	10.1
15	isolated ectopia lentis	10.1	ADAMTSL2 FBN1
16	mass syndrome	10.0	FBN1 LOC105370809
17	heart valve disease	9.9	FBN1 TGFB1
18	systemic scleroderma	9.9	FBN1 TGFB1
19	exophthalmos	9.9	SCYL1 TGFB1
20	tracheal stenosis	9.8	ADAMTSL2 FBN1 LTBP3
21	aortic valve disease 1	9.7	FBN1 TGFB1
22	stiff skin syndrome	9.7	FBN1 LOC105370809 TGFB1

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

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Symptoms & Phenotypes for Geleophysic Dysplasia

MGI Mouse Phenotypes related to Geleophysic Dysplasia:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	9.73	ADAMTSL2 FBN1 LTBP1 LTBP3 SCYL1 TGFB1
2	craniofacial	MP:0005382	9.62	FBN1 LTBP1 LTBP3 TGFB1
3	muscle	MP:0005369	9.55	ADAMTSL2 FBN1 LTBP1 SCYL1 TGFB1
4	respiratory system	MP:0005388	9.26	ADAMTSL2 FBN1 LTBP3 TGFB1
5	skeleton	MP:0005390	9.02	FBN1 LTBP1 LTBP3 SCYL1 TGFB1

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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 ³⁰

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Anatomical Context for Geleophysic Dysplasia

MalaCards organs/tissues related to Geleophysic Dysplasia:

⁴²

Skin, Bone, Heart, Liver, Eye, Trachea

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Publications for Geleophysic Dysplasia

Articles related to Geleophysic Dysplasia:

(show all 41)

#	Title	Authors	Year
1	Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia. ( 30738849 )	Hubmacher D...Apte SS	2019
2	Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia. ( 30415012 )	Khan AO...Schatz P	2018
3	Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. ( 30195254 )	Legare JM...Bartlett HL	2018
4	The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes. ( 30057829 )	Globa E...Dauber A	2018
5	A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. ( 29191498 )	Cheng SW...Chung BH	2018
6	A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. ( 28917829 )	Li D...Yang Y	2017
7	Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. ( 27935852 )	Hasegawa K...Tsukahara H	2017
8	Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. ( 27068007 )	McInerney-Leo AM...Cormier-Daire V	2016
9	Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. ( 27057656 )	Mackenroth L...Tzschach A	2016
10	Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. ( 25850559 )	Garc?a-Ortiz L...de la Concepci?n A Yerena M	2015
11	Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia. ( 25762570 )	Hubmacher D...Apte SS	2015
12	Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. ( 24192049 )	Elhoury ME...Galal MO	2015
13	Novel mutations in geleophysic dysplasia type 1. ( 24251637 )	Porayette P...Perez-Atayde AR	2014
14	Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )	Kochhar A...Michels V	2013
15	More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )	Pimienta AL...Reinstein E	2013
16	Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. ( 24014090 )	Ben-Salem S...Al-Gazali L	2013
17	Geleophysic dysplasia associated with bilateral angle closure glaucoma. ( 23514648 )	Saricaoglu MS...Hasiripi H	2013
18	A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. ( 23124041 )	Lee T...Iijima K	2013
19	Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. ( 21415077 )	Allali S...Cormier-Daire V	2011
20	ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. ( 18677313 )	Le Goff C...Cormier-Daire V	2008
21	Clinical and morphological phenotype of geleophysic dysplasia. ( 18510828 )	Giray O...G?rel D	2008
22	Geleophysic dysplasia: a patient with a severe form of the disorder. ( 16368598 )	Panagopoulos P...Antsaklis A	2005
23	Natural history of cardiac involvement in geleophysic dysplasia. ( 15690380 )	Scott A...Crow YJ	2005
24	Ocular findings in geleophysic dysplasia. ( 15088061 )	Zhang X...Lin M	2004
25	Multiple trigger fingers associated with geleophysic dysplasia. ( 12136306 )	Matsui Y...Yasui N	2002
26	Perthes-like changes in geleophysic dysplasia. ( 11943981 )	Keret D...Ezra E	2002
27	Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. ( 10440835 )	Titomanlio L...Parenti G	1999
28	Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. ( 9399356 )	Rennie AC...Tolmie JL	1997
29	Patients with geleophysic dysplasia are not always geleophysic. ( 9295082 )	Santolaya JM...Bilbao FJ	1997
30	Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ( 8777926 )	Hennekam RC...Oorthuys JW	1996
31	Geleophysic dysplasia vs. Myhre syndrome. ( 8923952 )	Figuera LE	1996
32	Clinical and ultrastructural findings in three patients with geleophysic dysplasia. ( 8723086 )	Pontz BF...Spranger J	1996
33	Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. ( 8533820 )	Rosser EM...Donnai D	1995
34	Geleophysic dysplasia: a further case. ( 2019943 )	Lipson A...Kozlowski K	1991
35	Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. ( 2380821 )	Shohat M...Rimoin DL	1990
36	Geleophysic dysplasia. ( 2090119 )	Wraith JE...Sardharwalla IB	1990
37	Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ( 3130853 )	Lipson AH...Kozlowski K	1987
38	Geleophysic dysplasia. ( 6507495 )	Spranger J...Opitz JM	1984
39	Familial recurrence of geleophysic dysplasia. ( 6507494 )	Koiffmann CP...Pupo AA	1984
40	Acrofacial dysplasia resembling geleophysic dysplasia. ( 6507496 )	Spranger J...Kallfelz HC	1984
41	Geleophysic dwarfism--a "focal" mucopolysaccharidosis? ( 4104008 )	Spranger JW...Opitz JM	1971

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Genes for Geleophysic Dysplasia

Genes related to Geleophysic Dysplasia (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ADAMTSL2	ADAMTS Like 2	Protein Coding	410.06	Causative germline mutation ⁶⁰ GeneCards inferred via : Disorders Publications Summaries Proteins Variants (show sections)
2	FBN1	Fibrillin 1	Protein Coding	390.03	Causative germline mutation ⁶⁰ GeneCards inferred via : Disorders Publications Variants (show sections)
3	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	386.72	Causative germline mutation ⁶⁰ GeneCards inferred via : Disorders Publications Variants (show sections)
4	SCYL1	SCY1 Like Pseudokinase 1	Protein Coding	17.16	GeneCards inferred via : Variants (show sections)
5	LTBP1	Latent Transforming Growth Factor Beta Binding Protein 1	Protein Coding	17.03	GeneCards inferred via : Publications (show sections)
6	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	17.03	GeneCards inferred via : Publications (show sections)
7	LOC105370809	Uncharacterized LOC105370809	RNA Gene	8.41	GeneCards inferred via : Variants (show sections)

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Variations for Geleophysic Dysplasia

ClinVar genetic disease variations for Geleophysic Dysplasia:

⁶ (show top 50) (show all 448)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FBN1	NM_000138.4(FBN1): c.1746C> T (p.Cys582=)	single nucleotide variant	Benign/Likely benign	rs112366266	GRCh37	Chromosome 15, 48800870: 48800870
2	FBN1	NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser)	single nucleotide variant	Benign/Likely benign	rs363835	GRCh37	Chromosome 15, 48722907: 48722907
3	FBN1	NM_000138.4(FBN1): c.156G> T (p.Ala52=)	single nucleotide variant	Benign	rs25398	GRCh37	Chromosome 15, 48936811: 48936811
4	FBN1	NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn)	single nucleotide variant	Uncertain significance	rs587782945	GRCh38	Chromosome 15, 48472574: 48472574
5	FBN1	NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146726731	GRCh37	Chromosome 15, 48812976: 48812976
6	ADAMTSL2	NM_014694.3(ADAMTSL2): c.690T> C (p.Ser230=)	single nucleotide variant	Uncertain significance	rs142777315	GRCh38	Chromosome 9, 133544477: 133544477
7	ADAMTSL2	NM_014694.3(ADAMTSL2): c.690T> C (p.Ser230=)	single nucleotide variant	Uncertain significance	rs142777315	GRCh37	Chromosome 9, 136409599: 136409599
8	ADAMTSL2	NM_014694.3(ADAMTSL2): c.1477G> A (p.Glu493Lys)	single nucleotide variant	Uncertain significance	rs886063642	GRCh38	Chromosome 9, 133555758: 133555758
9	ADAMTSL2	NM_014694.3(ADAMTSL2): c.1477G> A (p.Glu493Lys)	single nucleotide variant	Uncertain significance	rs886063642	GRCh37	Chromosome 9, 136420880: 136420880
10	ADAMTSL2	NM_014694.3(ADAMTSL2): c.1557C> T (p.Ser519=)	single nucleotide variant	Uncertain significance	rs62637565	GRCh38	Chromosome 9, 133555838: 133555838
11	ADAMTSL2	NM_014694.3(ADAMTSL2): c.1557C> T (p.Ser519=)	single nucleotide variant	Uncertain significance	rs62637565	GRCh37	Chromosome 9, 136420960: 136420960
12	ADAMTSL2	NM_014694.3(ADAMTSL2): c.1641C> T (p.His547=)	single nucleotide variant	Uncertain significance	rs7868941	GRCh38	Chromosome 9, 133555922: 133555922
13	ADAMTSL2	NM_014694.3(ADAMTSL2): c.1641C> T (p.His547=)	single nucleotide variant	Uncertain significance	rs7868941	GRCh37	Chromosome 9, 136421044: 136421044
14	ADAMTSL2	NM_014694.3(ADAMTSL2): c.2436C> T (p.Arg812=)	single nucleotide variant	Uncertain significance	rs61733946	GRCh37	Chromosome 9, 136435473: 136435473
15	ADAMTSL2	NM_014694.3(ADAMTSL2): c.2436C> T (p.Arg812=)	single nucleotide variant	Uncertain significance	rs61733946	GRCh38	Chromosome 9, 133570351: 133570351
16	ADAMTSL2	NM_014694.3(ADAMTSL2): c.2512G> A (p.Gly838Arg)	single nucleotide variant	Uncertain significance	rs886063647	GRCh37	Chromosome 9, 136435549: 136435549
17	ADAMTSL2	NM_014694.3(ADAMTSL2): c.2512G> A (p.Gly838Arg)	single nucleotide variant	Uncertain significance	rs886063647	GRCh38	Chromosome 9, 133570427: 133570427
18	ADAMTSL2	NM_014694.3(ADAMTSL2): c.2613G> A (p.Val871=)	single nucleotide variant	Uncertain significance	rs62637566	GRCh37	Chromosome 9, 136438985: 136438985
19	ADAMTSL2	NM_014694.3(ADAMTSL2): c.2613G> A (p.Val871=)	single nucleotide variant	Uncertain significance	rs62637566	GRCh38	Chromosome 9, 133573863: 133573863
20	ADAMTSL2	NM_014694.3(ADAMTSL2): c.*252C> T	single nucleotide variant	Likely benign	rs112953345	GRCh37	Chromosome 9, 136440238: 136440238
21	ADAMTSL2	NM_014694.3(ADAMTSL2): c.*252C> T	single nucleotide variant	Likely benign	rs112953345	GRCh38	Chromosome 9, 133575116: 133575116
22	ADAMTSL2	NM_014694.3(ADAMTSL2): c.*376G> A	single nucleotide variant	Likely benign	rs113048552	GRCh37	Chromosome 9, 136440362: 136440362
23	ADAMTSL2	NM_014694.3(ADAMTSL2): c.*376G> A	single nucleotide variant	Likely benign	rs113048552	GRCh38	Chromosome 9, 133575240: 133575240
24	ADAMTSL2	NM_014694.3(ADAMTSL2): c.*610G> A	single nucleotide variant	Uncertain significance	rs746098742	GRCh38	Chromosome 9, 133575474: 133575474
25	ADAMTSL2	NM_014694.3(ADAMTSL2): c.*610G> A	single nucleotide variant	Uncertain significance	rs746098742	GRCh37	Chromosome 9, 136440596: 136440596
26	FBN1	NM_000138.4(FBN1): c.396T> C (p.Asp132=)	single nucleotide variant	Likely benign	rs147481356	GRCh38	Chromosome 15, 48600185: 48600185
27	FBN1	NM_000138.4(FBN1): c.396T> C (p.Asp132=)	single nucleotide variant	Likely benign	rs147481356	GRCh37	Chromosome 15, 48892382: 48892382
28	FBN1	NM_000138.4(FBN1): c.*1619T> A	single nucleotide variant	Likely benign	rs374297351	GRCh38	Chromosome 15, 48409371: 48409371
29	FBN1	NM_000138.4(FBN1): c.*1562G> T	single nucleotide variant	Benign	rs78442438	GRCh37	Chromosome 15, 48701625: 48701625
30	FBN1	NM_000138.4(FBN1): c.*1484C> T	single nucleotide variant	Likely benign	rs533502309	GRCh38	Chromosome 15, 48409506: 48409506
31	FBN1	NM_000138.4(FBN1): c.*1325T> C	single nucleotide variant	Likely benign	rs569152308	GRCh38	Chromosome 15, 48409665: 48409665
32	FBN1	NM_000138.4(FBN1): c.*1325T> C	single nucleotide variant	Likely benign	rs569152308	GRCh37	Chromosome 15, 48701862: 48701862
33	FBN1	NM_000138.4(FBN1): c.*764G> A	single nucleotide variant	Likely benign	rs55717426	GRCh38	Chromosome 15, 48410226: 48410226
34	FBN1	NM_000138.4(FBN1): c.*764G> A	single nucleotide variant	Likely benign	rs55717426	GRCh37	Chromosome 15, 48702423: 48702423
35	FBN1	NM_000138.4(FBN1): c.*406G> T	single nucleotide variant	Uncertain significance	rs886051240	GRCh37	Chromosome 15, 48702781: 48702781
36	FBN1	NM_000138.4(FBN1): c.*406G> T	single nucleotide variant	Uncertain significance	rs886051240	GRCh38	Chromosome 15, 48410584: 48410584
37	FBN1	NM_000138.4(FBN1): c.*1943G> T	single nucleotide variant	Uncertain significance	rs886051229	GRCh38	Chromosome 15, 48409047: 48409047
38	FBN1	NM_000138.4(FBN1): c.*1943G> T	single nucleotide variant	Uncertain significance	rs886051229	GRCh37	Chromosome 15, 48701244: 48701244
39	FBN1	NM_000138.4(FBN1): c.*1706C> A	single nucleotide variant	Uncertain significance	rs770825180	GRCh38	Chromosome 15, 48409284: 48409284
40	FBN1	NM_000138.4(FBN1): c.*1706C> A	single nucleotide variant	Uncertain significance	rs770825180	GRCh37	Chromosome 15, 48701481: 48701481
41	FBN1	NM_000138.4(FBN1): c.*1635C> A	single nucleotide variant	Uncertain significance	rs886051232	GRCh38	Chromosome 15, 48409355: 48409355
42	FBN1	NM_000138.4(FBN1): c.*2594G> T	single nucleotide variant	Uncertain significance	rs886051220	GRCh38	Chromosome 15, 48408396: 48408396
43	FBN1	NM_000138.4(FBN1): c.*967C> T	single nucleotide variant	Likely benign	rs56024388	GRCh37	Chromosome 15, 48702220: 48702220
44	FBN1	NM_000138.4(FBN1): c.-70C> A	single nucleotide variant	Uncertain significance	rs886051253	GRCh38	Chromosome 15, 48644839: 48644839
45	FBN1	NM_000138.4(FBN1): c.-70C> A	single nucleotide variant	Uncertain significance	rs886051253	GRCh37	Chromosome 15, 48937036: 48937036
46	FBN1	NM_000138.4(FBN1): c.-98G> T	single nucleotide variant	Uncertain significance	rs886051254	GRCh38	Chromosome 15, 48644867: 48644867
47	FBN1	NM_000138.4(FBN1): c.-98G> T	single nucleotide variant	Uncertain significance	rs886051254	GRCh37	Chromosome 15, 48937064: 48937064
48	FBN1	NM_000138.4(FBN1): c.-319G> T	single nucleotide variant	Uncertain significance	rs886051256	GRCh37	Chromosome 15, 48937909: 48937909
49	FBN1	NM_000138.4(FBN1): c.*967C> T	single nucleotide variant	Likely benign	rs56024388	GRCh38	Chromosome 15, 48410023: 48410023
50	FBN1	NM_000138.4(FBN1): c.*987C> T	single nucleotide variant	Uncertain significance	rs886051237	GRCh37	Chromosome 15, 48702200: 48702200

Sources

Expression for Geleophysic Dysplasia

Search GEO for disease gene expression data for Geleophysic Dysplasia.

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Pathways for Geleophysic Dysplasia

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

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Phospholipase-C Pathway ⁶⁵ Show member pathways PTEN Pathway ⁶⁵	12.51	FBN1 LTBP1 LTBP3 TGFB1
2	NF-KappaB Family Pathway ⁶⁵ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁵	12.27	LTBP1 LTBP3 TGFB1
3	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	11.97	LTBP1 LTBP3 TGFB1
4	Degradation of the extracellular matrix ⁶⁷ Show member pathways Collagen degradation ⁶⁷ Extracellular matrix organization ⁶⁷	11.91	FBN1 LTBP1 LTBP3 TGFB1
5	Immune response IFN alpha/beta signaling pathway ²³ Show member pathways Cytokine Network ⁶⁵ Interferon alpha/beta signaling ⁶⁷ Regulation of IFNA signaling ⁶⁷	11.79	LTBP1 LTBP3 TGFB1
6	Immune response IFN gamma signaling pathway ²³ Show member pathways IFN-gamma pathway ¹	11.62	LTBP1 LTBP3 TGFB1
7	TGF-beta signaling pathway (KEGG) ³⁸	11.48	LTBP1 TGFB1
8	G-protein signaling_RhoA regulation pathway ²³	11.23	LTBP1 LTBP3 TGFB1
9	TGF-beta Receptor Signaling (WikiPathways) ¹	11.22	LTBP1 TGFB1
10	Elastic fibre formation ⁶⁷ Show member pathways Molecules associated with elastic fibres ⁶⁷	10.79	FBN1 LTBP1 LTBP3 TGFB1
11	Hypothesized Pathways in Pathogenesis of Cardiovascular Disease ¹	10.65	FBN1 LTBP1
12	G-protein signaling_Rap2B regulation pathway ²³	10.36	FBN1 LTBP1 LTBP3 TGFB1

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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	9.65	ADAMTSL2 FBN1 LTBP1 LTBP3 TGFB1
2	collagen-containing extracellular matrix	GO:0062023	9.33	FBN1 LTBP1 TGFB1
3	microfibril	GO:0001527	8.96	FBN1 LTBP1
4	extracellular matrix	GO:0031012	8.92	ADAMTSL2 FBN1 LTBP1 TGFB1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of transforming growth factor beta receptor signaling pathway	GO:0030512	9.26	ADAMTSL2 TGFB1
2	cellular response to transforming growth factor beta stimulus	GO:0071560	9.16	FBN1 TGFB1
3	cellular response to insulin-like growth factor stimulus	GO:1990314	8.96	FBN1 TGFB1
4	sequestering of TGFbeta in extracellular matrix	GO:0035583	8.62	FBN1 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	9.26	FBN1 LTBP1
2	growth factor binding	GO:0019838	9.16	LTBP1 LTBP3
3	transforming growth factor beta binding	GO:0050431	8.96	LTBP1 LTBP3
4	microfibril binding	GO:0050436	8.62	ADAMTSL2 LTBP1

Sources

Sources for Geleophysic Dysplasia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia