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	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
4	The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes. ( 30057829 )	Globa E...Dauber A	2018
5	Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. ( 30195254 )	Legare JM...Bartlett HL	2018
6	Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. ( 27935852 )	Hasegawa K...Tsukahara H	2017
7	A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. ( 28917829 )	Li D...Yang Y	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	Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. ( 24192049 )	Elhoury ME...Galal MO	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	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
13	Novel mutations in geleophysic dysplasia type 1. ( 24251637 )	Porayette P...Perez-Atayde AR	2014
14	A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. ( 23124041 )	Lee T...Iijima K	2013
15	Geleophysic dysplasia associated with bilateral angle closure glaucoma. ( 23514648 )	Saricaoglu MS...Hasiripi H	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	More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )	Pimienta AL...Reinstein E	2013
18	Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )	Kochhar A...Michels V	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	Clinical and morphological phenotype of geleophysic dysplasia. ( 18510828 )	Giray O...G?rel D	2008
21	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
22	Natural history of cardiac involvement in geleophysic dysplasia. ( 15690380 )	Scott A...Crow YJ	2005
23	Geleophysic dysplasia: a patient with a severe form of the disorder. ( 16368598 )	Panagopoulos P...Antsaklis A	2005
24	Ocular findings in geleophysic dysplasia. ( 15088061 )	Zhang X...Lin M	2004
25	Perthes-like changes in geleophysic dysplasia. ( 11943981 )	Keret D...Ezra E	2002
26	Multiple trigger fingers associated with geleophysic dysplasia. ( 12136306 )	Matsui Y...Yasui N	2002
27	Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. ( 10440835 )	Titomanlio L...Parenti G	1999
28	Patients with geleophysic dysplasia are not always geleophysic. ( 9295082 )	Santolaya JM...Bilbao FJ	1997
29	Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. ( 9399356 )	Rennie AC...Tolmie JL	1997
30	Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ( 8777926 )	Hennekam RC...Oorthuys JW	1996
31	Clinical and ultrastructural findings in three patients with geleophysic dysplasia. ( 8723086 )	Pontz BF...Spranger J	1996
32	Geleophysic dysplasia vs. Myhre syndrome. ( 8923952 )	Figuera LE	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. ( 2090119 )	Wraith JE...Sardharwalla IB	1990
36	Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. ( 2380821 )	Shohat M...Rimoin DL	1990
37	Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ( 3130853 )	Lipson AH...Kozlowski K	1987
38	Acrofacial dysplasia resembling geleophysic dysplasia. ( 6507496 )	Spranger J...Kallfelz HC	1984
39	Familial recurrence of geleophysic dysplasia. ( 6507494 )	Koiffmann CP...Pupo AA	1984
40	Geleophysic dysplasia. ( 6507495 )	Spranger J...Opitz JM	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.8176C> T (p.Arg2726Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61746008	GRCh37	Chromosome 15, 48704816: 48704816
2	FBN1	NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61746008	GRCh38	Chromosome 15, 48412619: 48412619
3	FBN1	NM_000138.4(FBN1): c.3509G> A (p.Arg1170His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137854475	GRCh37	Chromosome 15, 48779352: 48779352
4	FBN1	NM_000138.4(FBN1): c.3509G> A (p.Arg1170His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137854475	GRCh38	Chromosome 15, 48487155: 48487155
5	FBN1	NM_000138.4(FBN1): c.1746C> T (p.Cys582=)	single nucleotide variant	Benign/Likely benign	rs112366266	GRCh37	Chromosome 15, 48800870: 48800870
6	FBN1	NM_000138.4(FBN1): c.1746C> T (p.Cys582=)	single nucleotide variant	Benign/Likely benign	rs112366266	GRCh38	Chromosome 15, 48508673: 48508673
7	FBN1	NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112287730	GRCh37	Chromosome 15, 48782174: 48782174
8	FBN1	NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112287730	GRCh38	Chromosome 15, 48489977: 48489977
9	FBN1	NM_000138.4(FBN1): c.3675G> A (p.Pro1225=)	single nucleotide variant	Benign/Likely benign	rs148147223	GRCh37	Chromosome 15, 48777608: 48777608
10	FBN1	NM_000138.4(FBN1): c.3675G> A (p.Pro1225=)	single nucleotide variant	Benign/Likely benign	rs148147223	GRCh38	Chromosome 15, 48485411: 48485411
11	FBN1	NM_000138.4(FBN1): c.3965-8T> C	single nucleotide variant	Benign/Likely benign	rs140637	GRCh37	Chromosome 15, 48766855: 48766855
12	FBN1	NM_000138.4(FBN1): c.3965-8T> C	single nucleotide variant	Benign/Likely benign	rs140637	GRCh38	Chromosome 15, 48474658: 48474658
13	FBN1	NM_000138.4(FBN1): c.4905C> G (p.Thr1635=)	single nucleotide variant	Benign/Likely benign	rs113115949	GRCh37	Chromosome 15, 48757802: 48757802
14	FBN1	NM_000138.4(FBN1): c.4905C> G (p.Thr1635=)	single nucleotide variant	Benign/Likely benign	rs113115949	GRCh38	Chromosome 15, 48465605: 48465605
15	FBN1	NM_000138.4(FBN1): c.510C> T (p.Tyr170=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111671429	GRCh37	Chromosome 15, 48888508: 48888508
16	FBN1	NM_000138.4(FBN1): c.510C> T (p.Tyr170=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111671429	GRCh38	Chromosome 15, 48596311: 48596311
17	FBN1	NM_000138.4(FBN1): c.6594C> T (p.Pro2198=)	single nucleotide variant	Benign/Likely benign	rs111844882	GRCh37	Chromosome 15, 48726813: 48726813
18	FBN1	NM_000138.4(FBN1): c.6594C> T (p.Pro2198=)	single nucleotide variant	Benign/Likely benign	rs111844882	GRCh38	Chromosome 15, 48434616: 48434616
19	FBN1	NM_000138.4(FBN1): c.6700G> A (p.Val2234Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112084407	GRCh37	Chromosome 15, 48725102: 48725102
20	FBN1	NM_000138.4(FBN1): c.6700G> A (p.Val2234Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112084407	GRCh38	Chromosome 15, 48432905: 48432905
21	FBN1	NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser)	single nucleotide variant	Benign/Likely benign	rs363835	GRCh37	Chromosome 15, 48722907: 48722907
22	FBN1	NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser)	single nucleotide variant	Benign/Likely benign	rs363835	GRCh38	Chromosome 15, 48430710: 48430710
23	FBN1	NM_000138.4(FBN1): c.8283A> T (p.Thr2761=)	single nucleotide variant	Benign/Likely benign	rs146120912	GRCh37	Chromosome 15, 48703520: 48703520
24	FBN1	NM_000138.4(FBN1): c.8283A> T (p.Thr2761=)	single nucleotide variant	Benign/Likely benign	rs146120912	GRCh38	Chromosome 15, 48411323: 48411323
25	FBN1	NM_000138.4(FBN1): c.8502T> C (p.Thr2834=)	single nucleotide variant	Benign/Likely benign	rs363847	GRCh37	Chromosome 15, 48703301: 48703301
26	FBN1	NM_000138.4(FBN1): c.8502T> C (p.Thr2834=)	single nucleotide variant	Benign/Likely benign	rs363847	GRCh38	Chromosome 15, 48411104: 48411104
27	FBN1	NM_000138.4(FBN1): c.986T> C (p.Ile329Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs12324002	GRCh37	Chromosome 15, 48818329: 48818329
28	FBN1	NM_000138.4(FBN1): c.986T> C (p.Ile329Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs12324002	GRCh38	Chromosome 15, 48526132: 48526132
29	FBN1	NM_000138.4(FBN1): c.156G> T (p.Ala52=)	single nucleotide variant	Benign	rs25398	GRCh37	Chromosome 15, 48936811: 48936811
30	FBN1	NM_000138.4(FBN1): c.156G> T (p.Ala52=)	single nucleotide variant	Benign	rs25398	GRCh38	Chromosome 15, 48644614: 48644614
31	FBN1	NM_000138.4(FBN1): c.1875T> C (p.Asn625=)	single nucleotide variant	Benign	rs25458	GRCh37	Chromosome 15, 48797307: 48797307
32	FBN1	NM_000138.4(FBN1): c.1875T> C (p.Asn625=)	single nucleotide variant	Benign	rs25458	GRCh38	Chromosome 15, 48505110: 48505110
33	FBN1	NM_000138.4(FBN1): c.2175T> C (p.Asn725=)	single nucleotide variant	Benign/Likely benign	rs140606	GRCh37	Chromosome 15, 48789581: 48789581
34	FBN1	NM_000138.4(FBN1): c.2175T> C (p.Asn725=)	single nucleotide variant	Benign/Likely benign	rs140606	GRCh38	Chromosome 15, 48497384: 48497384
35	FBN1	NM_000138.4(FBN1): c.2855-9C> T	single nucleotide variant	Benign/Likely benign	rs140590	GRCh37	Chromosome 15, 48782284: 48782284
36	FBN1	NM_000138.4(FBN1): c.2855-9C> T	single nucleotide variant	Benign/Likely benign	rs140590	GRCh38	Chromosome 15, 48490087: 48490087
37	FBN1	NM_000138.4(FBN1): c.2895G> A (p.Glu965=)	single nucleotide variant	Benign/Likely benign	rs140591	GRCh37	Chromosome 15, 48782235: 48782235
38	FBN1	NM_000138.4(FBN1): c.2895G> A (p.Glu965=)	single nucleotide variant	Benign/Likely benign	rs140591	GRCh38	Chromosome 15, 48490038: 48490038
39	FBN1	NM_000138.4(FBN1): c.3422C> T (p.Pro1141Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2228241	GRCh37	Chromosome 15, 48779550: 48779550
40	FBN1	NM_000138.4(FBN1): c.3422C> T (p.Pro1141Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2228241	GRCh38	Chromosome 15, 48487353: 48487353
41	FBN1	NM_000138.4(FBN1): c.3423G> A (p.Pro1141=)	single nucleotide variant	Likely benign	rs140396599	GRCh37	Chromosome 15, 48779549: 48779549
42	FBN1	NM_000138.4(FBN1): c.3423G> A (p.Pro1141=)	single nucleotide variant	Likely benign	rs140396599	GRCh38	Chromosome 15, 48487352: 48487352
43	FBN1	NM_000138.4(FBN1): c.3463+3A> G	single nucleotide variant	Benign/Likely benign	rs80344206	GRCh37	Chromosome 15, 48779506: 48779506
44	FBN1	NM_000138.4(FBN1): c.3463+3A> G	single nucleotide variant	Benign/Likely benign	rs80344206	GRCh38	Chromosome 15, 48487309: 48487309
45	FBN1	NM_000138.4(FBN1): c.4640C> T (p.Thr1547Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs183306990	GRCh37	Chromosome 15, 48760242: 48760242
46	FBN1	NM_000138.4(FBN1): c.4640C> T (p.Thr1547Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs183306990	GRCh38	Chromosome 15, 48468045: 48468045
47	FBN1	NM_000138.4(FBN1): c.5442C> T (p.Asn1814=)	single nucleotide variant	Benign/Likely benign	rs397515822	GRCh37	Chromosome 15, 48744862: 48744862
48	FBN1	NM_000138.4(FBN1): c.5442C> T (p.Asn1814=)	single nucleotide variant	Benign/Likely benign	rs397515822	GRCh38	Chromosome 15, 48452665: 48452665
49	FBN1	NM_000138.4(FBN1): c.5788+10C> A	single nucleotide variant	Benign/Likely benign	rs371560107	GRCh37	Chromosome 15, 48738893: 48738893
50	FBN1	NM_000138.4(FBN1): c.5788+10C> A	single nucleotide variant	Benign/Likely benign	rs371560107	GRCh38	Chromosome 15, 48446696: 48446696

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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

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