GPHYSD1
MCID: GLP003
MIFTS: 44

Geleophysic Dysplasia 1 (GPHYSD1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Geleophysic Dysplasia 1

MalaCards integrated aliases for Geleophysic Dysplasia 1:

Name: Geleophysic Dysplasia 1 57 12 73 29 13 6 15 71
Gphysd1 57 12 73
Geleophysic Dysplasia 71
Geleophysic Dwarfism 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
lysosomal storage vacuoles in trachea, liver, cartilage, and heart


HPO:

31
geleophysic dysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Geleophysic Dysplasia 1

OMIM® : 57 Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues (summary by Le Goff et al., 2011). (231050) (Updated 05-Mar-2021)

MalaCards based summary : Geleophysic Dysplasia 1, also known as gphysd1, is related to geleophysic dysplasia and geleophysic dysplasia 2, and has symptoms including seizures and thick skin. An important gene associated with Geleophysic Dysplasia 1 is ADAMTSL2 (ADAMTS Like 2), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include heart, liver and trachea, and related phenotypes are osteopenia and global developmental delay

Disease Ontology : 12 A geleophysic dysplasia that has material basis in homozygous or compound heterozygous mutation in ADAMTSL2 on chromosome 9q34.2.

UniProtKB/Swiss-Prot : 73 Geleophysic dysplasia 1: An autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.

Related Diseases for Geleophysic Dysplasia 1

Diseases in the Geleophysic Dysplasia family:

Geleophysic Dysplasia 1 Geleophysic Dysplasia 2
Geleophysic Dysplasia 3

Diseases related to Geleophysic Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 geleophysic dysplasia 30.2 TSR3 TSR2 TBRG1 LTBP3 LTBP2 FBN1
2 geleophysic dysplasia 2 29.9 TSR2 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
3 chromosome 8q22.1 duplication syndrome 11.0
4 dwarfism 10.2
5 mucopolysaccharidosis-plus syndrome 10.0
6 excessive tearing 9.9 LTBP3 LTBP2
7 witkop syndrome 9.9 LTBP3 LTBP2
8 hydrophthalmos 9.9 LTBP3 LTBP2
9 brachyolmia 9.9 LTBP3 LTBP2
10 camurati-engelmann disease 9.9 LTBP3 LTBP2
11 juvenile glaucoma 9.8 LTBP3 LTBP2
12 postural orthostatic tachycardia syndrome 9.8 TBRG1 FBN1
13 glaucoma 3, primary congenital, a 9.8 LTBP3 LTBP2
14 bone development disease 9.7 FBN1 ADAMTSL2
15 weill-marchesani syndrome 1 9.7 LTBP2 FBN1
16 axenfeld-rieger syndrome 9.7 LTBP3 LTBP2
17 autosomal recessive cutis laxa type i 9.7 LTBP3 FBN1
18 cutis laxa 9.7 LTBP3 FBN1
19 anterior segment dysgenesis 9.7 LTBP3 LTBP2 ADAMTSL2
20 exfoliation syndrome 9.7 LTBP2 FBN1
21 tracheal disease 9.7 TBRG1 FBN1 ADAMTSL2
22 lens subluxation 9.6 LTBP2 FBN1 ADAMTSL2
23 odontochondrodysplasia 9.6 TBRG1 FBN1 ADAMTSL2
24 aniridia 1 9.6 LTBP3 LTBP2
25 intraocular pressure quantitative trait locus 9.6 LTBP2 FBN1
26 brachydactyly 9.6 LTBP2 FBN1 ADAMTSL2
27 peters-plus syndrome 9.5 TSR3 LTBP3 LTBP2 ADAMTSL2
28 phacogenic glaucoma 9.5 LTBP3 LTBP2 FBN1
29 megalocornea 9.5 LTBP3 LTBP2 FBN1
30 iris disease 9.5 LTBP3 LTBP2 FBN1
31 primary congenital glaucoma 9.5 LTBP3 LTBP2 FBN1
32 aortic aneurysm, familial thoracic 1 9.5 LTBP3 LTBP2 FBN1
33 glaucoma, primary open angle 9.5 LTBP3 LTBP2 FBN1
34 tracheal stenosis 9.3 TBRG1 LTBP3 FBN1 ADAMTSL2
35 stiff skin syndrome 9.3 TBRG1 LTBP3 FBN1 ADAMTSL2
36 geleophysic dysplasia 3 9.2 TSR2 TBRG1 LTBP3 LTBP2 ADAMTSL2
37 acromicric dysplasia 9.1 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
38 isolated ectopia lentis 9.1 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
39 weill-marchesani syndrome 9.1 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2

Graphical network of the top 20 diseases related to Geleophysic Dysplasia 1:



Diseases related to Geleophysic Dysplasia 1

Symptoms & Phenotypes for Geleophysic Dysplasia 1

Human phenotypes related to Geleophysic Dysplasia 1:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 HP:0000938
2 global developmental delay 31 HP:0001263
3 hepatomegaly 31 HP:0002240
4 joint stiffness 31 HP:0001387
5 short nose 31 HP:0003196
6 smooth philtrum 31 HP:0000319
7 anteverted nares 31 HP:0000463
8 short stature 31 HP:0004322
9 congestive heart failure 31 HP:0001635
10 pectus excavatum 31 HP:0000767
11 wide mouth 31 HP:0000154
12 upslanted palpebral fissure 31 HP:0000582
13 long philtrum 31 HP:0000343
14 round face 31 HP:0000311
15 high pitched voice 31 HP:0001620
16 wrist flexion contracture 31 HP:0001239
17 coxa valga 31 HP:0002673
18 camptodactyly of finger 31 HP:0100490
19 thickened helices 31 HP:0000391
20 short foot 31 HP:0001773
21 lack of skin elasticity 31 HP:0100679
22 thickened skin 31 HP:0001072
23 short palm 31 HP:0004279
24 mitral stenosis 31 HP:0001718
25 aortic valve stenosis 31 HP:0001650
26 tracheal stenosis 31 HP:0002777
27 small nail 31 HP:0001792
28 short long bone 31 HP:0003026
29 j-shaped sella turcica 31 HP:0002680
30 tricuspid stenosis 31 HP:0010446
31 hypoplasia of the capital femoral epiphysis 31 HP:0003090
32 joint contracture of the hand 31 HP:0009473
33 irregular capital femoral epiphysis 31 HP:0005041
34 seizure 31 HP:0001250
35 short metacarpals with rounded proximal ends 31 HP:0006161

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
developmental delay

Abdomen Liver:
hepatomegaly

Growth Height:
short stature
normal upper/lower segment ratio

Head And Neck Mouth:
wide mouth

Head And Neck Ears:
thickened helices

Cardiovascular Heart:
mitral stenosis
tricuspid stenosis
cardiac failure

Skeletal Skull:
j-shaped sella turcica

Growth Weight:
normal birth weight

Skeletal Feet:
short feet
short, plump tubular bones

Voice:
high-pitched voice

Head And Neck Face:
long, smooth philtrum
round, full face
'pleasant, happy-nature' appearance

Head And Neck Head:
normal head circumference

Skeletal:
osteopenia

Head And Neck Nose:
short nose
anteverted nares

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Pelvis:
coxa valga

Skin Nails Hair Skin:
thickened skin
tight skin

Respiratory Airways:
tracheal stenosis
brainstem bronchi stenosis

Skeletal Hands:
short metacarpals with rounded proximal ends
short hands
wrist contractures
finger contractures

Skeletal Limbs:
shortened long tubular bones
small, irregular capital femoral epiphyses

Cardiovascular Vascular:
aortic stenosis

Skin Nails Hair Nails:
small nails

Head And Neck Eyes:
upward slanting palpebral fissures

Clinical features from OMIM®:

231050 (Updated 05-Mar-2021)

UMLS symptoms related to Geleophysic Dysplasia 1:


seizures, thick skin

MGI Mouse Phenotypes related to Geleophysic Dysplasia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.92 ADAMTSL2 FBN1 LTBP2 LTBP3

Drugs & Therapeutics for Geleophysic Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Geleophysic Dysplasia 1

Genetic Tests for Geleophysic Dysplasia 1

Genetic tests related to Geleophysic Dysplasia 1:

# Genetic test Affiliating Genes
1 Geleophysic Dysplasia 1 29 ADAMTSL2

Anatomical Context for Geleophysic Dysplasia 1

MalaCards organs/tissues related to Geleophysic Dysplasia 1:

40
Heart, Liver, Trachea, Bone, Skin

Publications for Geleophysic Dysplasia 1

Articles related to Geleophysic Dysplasia 1:

(show all 18)
# Title Authors PMID Year
1
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. 57 6
30195254 2018
2
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. 57 6
24014090 2013
3
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 6 57
21415077 2011
4
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 57
21683322 2011
5
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 57
18677313 2008
6
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. 57
10440835 1999
7
Patients with geleophysic dysplasia are not always geleophysic. 57
9295082 1997
8
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. 57
8723086 1996
9
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. 57
8533820 1995
10
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. 57
2380821 1990
11
Geleophysic dysplasia. 57
2090119 1990
12
Geleophysic dysplasia. 57
6507495 1984
13
Acrofacial dysplasia resembling geleophysic dysplasia. 57
6507496 1984
14
Familial recurrence of geleophysic dysplasia. 57
6507494 1984
15
Geleophysic dwarfism--a "focal" mucopolysaccharidosis? 57
4104008 1971
16
Mitral stenosis in an atypical case of gargoylism: a case report with pathologic and histochemical studies of the cardiac tissues. 57
13841169 1960
17
O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations. 61
32913123 2020
18
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking. 61
31516831 2019

Variations for Geleophysic Dysplasia 1

ClinVar genetic disease variations for Geleophysic Dysplasia 1:

6 (show top 50) (show all 142)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTSL2 NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu) SNV Pathogenic 693 rs113994121 9:136405747-136405747 9:133540625-133540625
2 ADAMTSL2 NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His) SNV Pathogenic 694 rs113994122 9:136404921-136404921 9:133539799-133539799
3 ADAMTSL2 NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) SNV Pathogenic 695 rs113994123 9:136404923-136404923 9:133539801-133539801
4 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg) SNV Pathogenic 696 rs113994124 9:136435468-136435468 9:133570346-133570346
5 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter) SNV Pathogenic 697 rs113994125 9:136435623-136435623 9:133570501-133570501
6 ADAMTSL2 NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln) SNV Pathogenic 30944 rs387907064 9:136402651-136402651 9:133537529-133537529
7 ADAMTSL2 NM_014694.4(ADAMTSL2):c.661C>T (p.Arg221Cys) SNV Pathogenic 30945 rs387907065 9:136406102-136406102 9:133540980-133540980
8 ADAMTSL2 NM_014694.4(ADAMTSL2):c.234-2A>G SNV Pathogenic 427943 rs775621284 9:136403469-136403469 9:133538347-133538347
9 ADAMTSL2 NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn) SNV Pathogenic 624558 rs761886575 9:136405806-136405806 9:133540684-133540684
10 ADAMTSL2 NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter) SNV Pathogenic 915302 9:136405836-136405836 9:133540714-133540714
11 ADAMTSL2 NM_014694.4(ADAMTSL2):c.475C>T (p.Arg159Trp) SNV Uncertain significance 930268 9:136405782-136405782 9:133540660-133540660
12 ADAMTSL2 NM_014694.4(ADAMTSL2):c.845C>T (p.Thr282Met) SNV Uncertain significance 930269 9:136412241-136412241 9:133547119-133547119
13 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2839A>G (p.Arg947Gly) SNV Uncertain significance 931256 9:136439969-136439969 9:133574847-133574847
14 ADAMTSL2 NM_014694.4(ADAMTSL2):c.286C>T (p.Arg96Trp) SNV Uncertain significance 976587 9:136403523-136403523 9:133538401-133538401
15 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) SNV Uncertain significance 518395 rs534165083 9:136433542-136433542 9:133568420-133568420
16 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) SNV Uncertain significance 518396 rs1064975 9:136434598-136434598 9:133569476-133569476
17 ADAMTSL2 NM_014694.4(ADAMTSL2):c.412+10G>A SNV Uncertain significance 912855 9:136405005-136405005 9:133539883-133539883
18 ADAMTSL2 NM_014694.4(ADAMTSL2):c.541G>A (p.Val181Met) SNV Uncertain significance 912856 9:136405848-136405848 9:133540726-133540726
19 ADAMTSL2 NM_014694.4(ADAMTSL2):c.565G>A (p.Gly189Ser) SNV Uncertain significance 912857 9:136406006-136406006 9:133540884-133540884
20 ADAMTSL2 NM_014694.4(ADAMTSL2):c.651G>A (p.Thr217=) SNV Uncertain significance 912858 9:136406092-136406092 9:133540970-133540970
21 ADAMTSL2 NM_014694.4(ADAMTSL2):c.682+10A>G SNV Uncertain significance 912859 9:136406133-136406133 9:133541011-133541011
22 ADAMTSL2 NM_014694.4(ADAMTSL2):c.682+13G>A SNV Uncertain significance 912860 9:136406136-136406136 9:133541014-133541014
23 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1068C>T (p.Asp356=) SNV Uncertain significance 912900 9:136419607-136419607 9:133554485-133554485
24 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) SNV Uncertain significance 365611 rs62637566 9:136438985-136438985 9:133573863-133573863
25 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) SNV Uncertain significance 365599 rs7868941 9:136421044-136421044 9:133555922-133555922
26 ADAMTSL2 NM_014694.4(ADAMTSL2):c.441G>A (p.Pro147=) SNV Uncertain significance 365577 rs372783597 9:136405748-136405748 9:133540626-133540626
27 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*566G>A SNV Uncertain significance 365623 rs886063652 9:136440552-136440552 9:133575430-133575430
28 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2042G>A (p.Arg681Gln) SNV Uncertain significance 365600 rs553955759 9:136433562-136433562 9:133568440-133568440
29 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2717C>T (p.Pro906Leu) SNV Uncertain significance 225293 rs969732840 9:136439089-136439089 9:133573967-133573967
30 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1557C>T (p.Ser519=) SNV Uncertain significance 365597 rs62637565 9:136420960-136420960 9:133555838-133555838
31 ADAMTSL2 NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile) SNV Uncertain significance 365571 rs145897018 9:136401892-136401892 9:133536770-133536770
32 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1006G>A (p.Glu336Lys) SNV Uncertain significance 365587 rs753606710 9:136419545-136419545 9:133554423-133554423
33 ADAMTSL2 NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr) SNV Uncertain significance 365570 rs200378599 9:136401845-136401845 9:133536723-133536723
34 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2142G>A (p.Ser714=) SNV Uncertain significance 365603 rs11542920 9:136433778-136433778 9:133568656-133568656
35 ADAMTSL2 NM_014694.4(ADAMTSL2):c.763+7A>G SNV Uncertain significance 365580 rs776668079 9:136409679-136409679 9:133544557-133544557
36 ADAMTSL2 NM_014694.4(ADAMTSL2):c.318G>A (p.Pro106=) SNV Uncertain significance 976603 9:136404901-136404901 9:133539779-133539779
37 ADAMTSL2 NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr) SNV Uncertain significance 524194 rs764516811 9:136405800-136405800 9:133540678-133540678
38 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*609C>T SNV Uncertain significance 365626 rs886063654 9:136440595-136440595 9:133575473-133575473
39 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2520C>T (p.Ala840=) SNV Uncertain significance 365609 rs368922820 9:136435557-136435557 9:133570435-133570435
40 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*635G>T SNV Uncertain significance 365629 rs886063656 9:136440621-136440621 9:133575499-133575499
41 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2689G>A (p.Val897Ile) SNV Uncertain significance 365612 rs886063649 9:136439061-136439061 9:133573939-133573939
42 ADAMTSL2 NM_014694.4(ADAMTSL2):c.954C>T (p.Asn318=) SNV Uncertain significance 365586 rs886063638 9:136419493-136419493 9:133554371-133554371
43 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2506G>A (p.Glu836Lys) SNV Uncertain significance 365606 rs886063646 9:136435543-136435543 9:133570421-133570421
44 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1242C>A (p.Ala414=) SNV Uncertain significance 365592 rs199582731 9:136419781-136419781 9:133554659-133554659
45 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1095G>A (p.Pro365=) SNV Uncertain significance 365589 rs776340163 9:136419634-136419634 9:133554512-133554512
46 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1590A>G (p.Pro530=) SNV Uncertain significance 365598 rs886063643 9:136420993-136420993 9:133555871-133555871
47 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*280C>A SNV Uncertain significance 365618 rs886063650 9:136440266-136440266 9:133575144-133575144
48 ADAMTSL2 NM_014694.4(ADAMTSL2):c.255C>T (p.Pro85=) SNV Uncertain significance 365572 rs777495910 9:136403492-136403492 9:133538370-133538370
49 ADAMTSL2 NM_014694.4(ADAMTSL2):c.325G>A (p.Gly109Arg) SNV Uncertain significance 365575 rs199663387 9:136404908-136404908 9:133539786-133539786
50 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*610G>A SNV Uncertain significance 365627 rs746098742 9:136440596-136440596 9:133575474-133575474

UniProtKB/Swiss-Prot genetic disease variations for Geleophysic Dysplasia 1:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 ADAMTSL2 p.Arg113His VAR_054874 rs113994122
2 ADAMTSL2 p.Glu114Lys VAR_054875 rs113994123
3 ADAMTSL2 p.Pro147Leu VAR_054876 rs113994121
4 ADAMTSL2 p.Gly811Arg VAR_054877 rs113994124
5 ADAMTSL2 p.Trp50Cys VAR_066543 rs139521976
6 ADAMTSL2 p.Arg72Gln VAR_066544 rs387907064
7 ADAMTSL2 p.Arg159Trp VAR_066545 rs776178041
8 ADAMTSL2 p.Ala165Thr VAR_066546 rs764516811
9 ADAMTSL2 p.Cys171Arg VAR_066547
10 ADAMTSL2 p.Arg221Cys VAR_066548 rs387907065
11 ADAMTSL2 p.Ala239Thr VAR_066549
12 ADAMTSL2 p.Arg593Cys VAR_066551
13 ADAMTSL2 p.Ser635Leu VAR_066552
14 ADAMTSL2 p.Pro906Leu VAR_066553 rs969732840

Expression for Geleophysic Dysplasia 1

Search GEO for disease gene expression data for Geleophysic Dysplasia 1.

Pathways for Geleophysic Dysplasia 1

Pathways related to Geleophysic Dysplasia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 TBRG1 LTBP3 LTBP2 FBN1
2
Show member pathways
12.26 LTBP3 LTBP2 FBN1
3
Show member pathways
12.2 TBRG1 LTBP3 LTBP2
4
Show member pathways
11.93 TBRG1 LTBP3 LTBP2
5
Show member pathways
11.75 TBRG1 LTBP3 LTBP2
6 11.19 TBRG1 LTBP3 LTBP2
7
Show member pathways
10.66 LTBP3 LTBP2 FBN1
8 10.55 LTBP2 FBN1
9 10.16 TBRG1 LTBP3 LTBP2 FBN1

GO Terms for Geleophysic Dysplasia 1

Cellular components related to Geleophysic Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.13 LTBP3 LTBP2 FBN1
2 extracellular matrix GO:0031012 8.8 LTBP2 FBN1 ADAMTSL2

Biological processes related to Geleophysic Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 8.62 LTBP3 LTBP2

Molecular functions related to Geleophysic Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.96 LTBP3 LTBP2
2 microfibril binding GO:0050436 8.62 LTBP2 ADAMTSL2

Sources for Geleophysic Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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