GPHYSD1
MCID: GLP003
MIFTS: 43

Geleophysic Dysplasia 1 (GPHYSD1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Geleophysic Dysplasia 1

MalaCards integrated aliases for Geleophysic Dysplasia 1:

Name: Geleophysic Dysplasia 1 56 12 73 29 13 6 15 71
Gphysd1 56 12 73
Geleophysic Dysplasia 71
Geleophysic Dwarfism 73

Characteristics:

OMIM:

56
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 : 56 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)

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 bone, skin and heart, and related phenotypes are global developmental delay and hepatomegaly

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 33)
# Related Disease Score Top Affiliating Genes
1 geleophysic dysplasia 30.1 TSR2 TSR1 TBRG1 LTBP3 LTBP2 FBN1
2 geleophysic dysplasia 2 29.1 TSR2 TSR1 TBRG1 LTBP3 LTBP2 FBN1
3 chromosome 8q22.1 duplication syndrome 11.3
4 dwarfism 10.3
5 mucopolysaccharidosis-plus syndrome 10.2
6 cutis laxa, autosomal recessive, type ic 10.0 LTBP3 LTBP2
7 hydrophthalmos 10.0 LTBP3 LTBP2
8 juvenile glaucoma 10.0 LTBP3 LTBP2
9 brachyolmia 9.9 LTBP3 LTBP2
10 camurati-engelmann disease 9.9 LTBP3 LTBP2
11 glaucoma 3, primary congenital, a 9.9 LTBP3 LTBP2
12 lens subluxation 9.8 LTBP2 FBN1
13 axenfeld-rieger syndrome 9.8 LTBP3 LTBP2
14 autosomal recessive cutis laxa type i 9.8 LTBP3 FBN1
15 bone development disease 9.7 FBN1 ADAMTSL2
16 tracheal disease 9.7 TBRG1 FBN1 ADAMTSL2
17 intraocular pressure quantitative trait locus 9.6 LTBP2 FBN1
18 odontochondrodysplasia 9.6 TBRG1 FBN1 ADAMTSL2
19 phacogenic glaucoma 9.6 LTBP3 LTBP2 FBN1
20 brachydactyly 9.6 LTBP2 FBN1 ADAMTSL2
21 megalocornea 9.6 LTBP3 LTBP2 FBN1
22 iris disease 9.6 LTBP3 LTBP2 FBN1
23 primary congenital glaucoma 9.5 LTBP3 LTBP2 FBN1
24 aortic aneurysm, familial thoracic 1 9.5 LTBP3 LTBP2 FBN1
25 glaucoma, primary open angle 9.5 LTBP3 LTBP2 FBN1
26 marfan syndrome 9.5 LTBP2 FBN1
27 peters-plus syndrome 9.4 TSR1 LTBP3 LTBP2 ADAMTSL2
28 tracheal stenosis 9.3 TBRG1 LTBP3 FBN1 ADAMTSL2
29 acromicric dysplasia 9.0 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
30 stiff skin syndrome 9.0 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
31 isolated ectopia lentis 9.0 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
32 weill-marchesani syndrome 9.0 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
33 geleophysic dysplasia 3 8.4 TSR2 TSR1 TBRG1 LTBP3 LTBP2 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 global developmental delay 31 HP:0001263
2 hepatomegaly 31 HP:0002240
3 joint stiffness 31 HP:0001387
4 short nose 31 HP:0003196
5 smooth philtrum 31 HP:0000319
6 anteverted nares 31 HP:0000463
7 short stature 31 HP:0004322
8 congestive heart failure 31 HP:0001635
9 thickened skin 31 HP:0001072
10 lack of skin elasticity 31 HP:0100679
11 osteopenia 31 HP:0000938
12 pectus excavatum 31 HP:0000767
13 wide mouth 31 HP:0000154
14 upslanted palpebral fissure 31 HP:0000582
15 long philtrum 31 HP:0000343
16 round face 31 HP:0000311
17 high pitched voice 31 HP:0001620
18 wrist flexion contracture 31 HP:0001239
19 coxa valga 31 HP:0002673
20 camptodactyly of finger 31 HP:0100490
21 thickened helices 31 HP:0000391
22 short foot 31 HP:0001773
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:

56
Abdomen Liver:
hepatomegaly

Head And Neck Nose:
short nose
anteverted nares

Skin Nails Hair Skin:
thickened skin
tight skin

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Pelvis:
coxa valga

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

Neurologic Central Nervous System:
seizures
developmental delay

Growth Height:
short stature
normal upper/lower segment ratio

Skeletal:
osteopenia

Head And Neck Mouth:
wide mouth

Head And Neck Ears:
thickened helices

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

UMLS symptoms related to Geleophysic Dysplasia 1:


seizures, thick skin

MGI Mouse Phenotypes related to Geleophysic Dysplasia 1:

45
# 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
Bone, Skin, Heart, Liver, Trachea

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. 6 56
30195254 2018
2
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. 6 56
24014090 2013
3
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 6 56
21415077 2011
4
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 56
21683322 2011
5
Geleophysic Dysplasia 6
20301776 2009
6
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 56
18677313 2008
7
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. 56
10440835 1999
8
Patients with geleophysic dysplasia are not always geleophysic. 56
9295082 1997
9
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. 56
8723086 1996
10
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. 56
8533820 1995
11
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. 56
2380821 1990
12
Geleophysic dysplasia. 56
2090119 1990
13
Familial recurrence of geleophysic dysplasia. 56
6507494 1984
14
Geleophysic dysplasia. 56
6507495 1984
15
Acrofacial dysplasia resembling geleophysic dysplasia. 56
6507496 1984
16
Geleophysic dwarfism--a "focal" mucopolysaccharidosis? 56
4104008 1971
17
Mitral stenosis in an atypical case of gargoylism: a case report with pathologic and histochemical studies of the cardiac tissues. 56
13841169 1960
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 131) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTSL2 NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn)SNV Pathogenic 624558 rs761886575 9:136405806-136405806 9:133540684-133540684
2 ADAMTSL2 NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter)SNV Pathogenic 915302 9:136405836-136405836 9:133540714-133540714
3 ADAMTSL2 NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu)SNV Pathogenic 693 rs113994121 9:136405747-136405747 9:133540625-133540625
4 ADAMTSL2 NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His)SNV Pathogenic 694 rs113994122 9:136404921-136404921 9:133539799-133539799
5 ADAMTSL2 NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)SNV Pathogenic 695 rs113994123 9:136404923-136404923 9:133539801-133539801
6 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg)SNV Pathogenic 696 rs113994124 9:136435468-136435468 9:133570346-133570346
7 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter)SNV Pathogenic 697 rs113994125 9:136435623-136435623 9:133570501-133570501
8 ADAMTSL2 NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln)SNV Pathogenic 30944 rs387907064 9:136402651-136402651 9:133537529-133537529
9 ADAMTSL2 NM_014694.4(ADAMTSL2):c.661C>T (p.Arg221Cys)SNV Pathogenic 30945 rs387907065 9:136406102-136406102 9:133540980-133540980
10 ADAMTSL2 NM_014694.4(ADAMTSL2):c.234-2A>GSNV Pathogenic 427943 rs775621284 9:136403469-136403469 9:133538347-133538347
11 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=)SNV Uncertain significance 518396 rs1064975 9:136434598-136434598 9:133569476-133569476
12 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=)SNV Uncertain significance 518395 rs534165083 9:136433542-136433542 9:133568420-133568420
13 ADAMTSL2 NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr)SNV Uncertain significance 524194 rs764516811 9:136405800-136405800 9:133540678-133540678
14 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*242C>TSNV Uncertain significance 365616 rs372143951 9:136440228-136440228 9:133575106-133575106
15 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*490C>TSNV Uncertain significance 365621 rs886063651 9:136440476-136440476 9:133575354-133575354
16 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*635G>TSNV Uncertain significance 365629 rs886063656 9:136440621-136440621 9:133575499-133575499
17 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1074C>T (p.Ala358=)SNV Uncertain significance 365588 rs370480318 9:136419613-136419613 9:133554491-133554491
18 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2049C>T (p.Pro683=)SNV Uncertain significance 365601 rs886063644 9:136433569-136433569 9:133568447-133568447
19 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2142G>A (p.Ser714=)SNV Uncertain significance 365603 rs11542920 9:136433778-136433778 9:133568656-133568656
20 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2506G>A (p.Glu836Lys)SNV Uncertain significance 365606 rs886063646 9:136435543-136435543 9:133570421-133570421
21 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2520C>T (p.Ala840=)SNV Uncertain significance 365609 rs368922820 9:136435557-136435557 9:133570435-133570435
22 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2689G>A (p.Val897Ile)SNV Uncertain significance 365612 rs886063649 9:136439061-136439061 9:133573939-133573939
23 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*566G>ASNV Uncertain significance 365623 rs886063652 9:136440552-136440552 9:133575430-133575430
24 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*577G>ASNV Uncertain significance 365624 rs886063653 9:136440563-136440563 9:133575441-133575441
25 ADAMTSL2 NM_014694.4(ADAMTSL2):c.690T>C (p.Ser230=)SNV Uncertain significance 365579 rs142777315 9:136409599-136409599 9:133544477-133544477
26 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1477G>A (p.Glu493Lys)SNV Uncertain significance 365596 rs886063642 9:136420880-136420880 9:133555758-133555758
27 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1557C>T (p.Ser519=)SNV Uncertain significance 365597 rs62637565 9:136420960-136420960 9:133555838-133555838
28 ADAMTSL2 NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile)SNV Uncertain significance 365571 rs145897018 9:136401892-136401892 9:133536770-133536770
29 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=)SNV Uncertain significance 365599 rs7868941 9:136421044-136421044 9:133555922-133555922
30 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2436C>T (p.Arg812=)SNV Uncertain significance 365605 rs61733946 9:136435473-136435473 9:133570351-133570351
31 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2512G>A (p.Gly838Arg)SNV Uncertain significance 365607 rs886063647 9:136435549-136435549 9:133570427-133570427
32 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=)SNV Uncertain significance 365611 rs62637566 9:136438985-136438985 9:133573863-133573863
33 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*610G>ASNV Uncertain significance 365627 rs746098742 9:136440596-136440596 9:133575474-133575474
34 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*622C>GSNV Uncertain significance 365628 rs886063655 9:136440608-136440608 9:133575486-133575486
35 ADAMTSL2 NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr)SNV Uncertain significance 365570 rs200378599 9:136401845-136401845 9:133536723-133536723
36 ADAMTSL2 NM_014694.4(ADAMTSL2):c.255C>T (p.Pro85=)SNV Uncertain significance 365572 rs777495910 9:136403492-136403492 9:133538370-133538370
37 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1276+5C>GSNV Uncertain significance 365593 rs886063640 9:136419820-136419820 9:133554698-133554698
38 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1280G>A (p.Arg427His)SNV Uncertain significance 365594 rs540447841 9:136420683-136420683 9:133555561-133555561
39 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1590A>G (p.Pro530=)SNV Uncertain significance 365598 rs886063643 9:136420993-136420993 9:133555871-133555871
40 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2042G>A (p.Arg681Gln)SNV Uncertain significance 365600 rs553955759 9:136433562-136433562 9:133568440-133568440
41 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*280C>ASNV Uncertain significance 365618 rs886063650 9:136440266-136440266 9:133575144-133575144
42 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*496C>TSNV Uncertain significance 365622 rs865954704 9:136440482-136440482 9:133575360-133575360
43 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*595G>ASNV Uncertain significance 365625 rs538282848 9:136440581-136440581 9:133575459-133575459
44 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*609C>TSNV Uncertain significance 365626 rs886063654 9:136440595-136440595 9:133575473-133575473
45 ADAMTSL2 NM_014694.4(ADAMTSL2):c.763+7A>GSNV Uncertain significance 365580 rs776668079 9:136409679-136409679 9:133544557-133544557
46 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2717C>T (p.Pro906Leu)SNV Uncertain significance 225293 rs969732840 9:136439089-136439089 9:133573967-133573967
47 ADAMTSL2 NM_014694.4(ADAMTSL2):c.441G>A (p.Pro147=)SNV Uncertain significance 365577 rs372783597 9:136405748-136405748 9:133540626-133540626
48 ADAMTSL2 NM_014694.4(ADAMTSL2):c.954C>T (p.Asn318=)SNV Uncertain significance 365586 rs886063638 9:136419493-136419493 9:133554371-133554371
49 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1006G>A (p.Glu336Lys)SNV Uncertain significance 365587 rs753606710 9:136419545-136419545 9:133554423-133554423
50 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1095G>A (p.Pro365=)SNV Uncertain significance 365589 rs776340163 9:136419634-136419634 9:133554512-133554512

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 8.96 LTBP3 LTBP2
2 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 8.62 TSR2 TSR1

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
28 GO
29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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