GPHYSD2
MCID: GLP004
MIFTS: 31

Geleophysic Dysplasia 2 (GPHYSD2)

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

Aliases & Classifications for Geleophysic Dysplasia 2

MalaCards integrated aliases for Geleophysic Dysplasia 2:

Name: Geleophysic Dysplasia 2 58 76 30 13 6 74
Gphysd2 58 76
Dysplasia, Geleophysic, Type 2 41
Geleophysic Dysplasia 74
Geleophysic Dwarfism 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
early death in some patients due to cardiorespiratory involvement


HPO:

33
geleophysic dysplasia 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Geleophysic Dysplasia 2

UniProtKB/Swiss-Prot : 76 Geleophysic dysplasia 2: An autosomal dominant 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.

MalaCards based summary : Geleophysic Dysplasia 2, also known as gphysd2, is related to geleophysic dwarfism and geleophysic dysplasia, and has symptoms including joint stiffness and thick skin. An important gene associated with Geleophysic Dysplasia 2 is FBN1 (Fibrillin 1). Affiliated tissues include bone, skin and liver, and related phenotypes are hypertelorism and respiratory insufficiency

Description from OMIM: 614185

Related Diseases for Geleophysic Dysplasia 2

Diseases in the Geleophysic Dysplasia family:

Geleophysic Dysplasia 1 Geleophysic Dysplasia 2
Geleophysic Dysplasia 3

Diseases related to Geleophysic Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 geleophysic dwarfism 12.4
2 geleophysic dysplasia 11.8
3 geleophysic dysplasia 1 11.3
4 acromicric dysplasia 11.2
5 mucopolysaccharidosis-plus syndrome 10.2
6 dwarfism 10.2

Graphical network of the top 20 diseases related to Geleophysic Dysplasia 2:



Diseases related to Geleophysic Dysplasia 2

Symptoms & Phenotypes for Geleophysic Dysplasia 2

Human phenotypes related to Geleophysic Dysplasia 2:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 respiratory insufficiency 33 HP:0002093
3 hepatomegaly 33 HP:0002240
4 delayed skeletal maturation 33 HP:0002750
5 joint stiffness 33 HP:0001387
6 short nose 33 HP:0003196
7 smooth philtrum 33 HP:0000319
8 short stature 33 HP:0004322
9 full cheeks 33 HP:0000293
10 long philtrum 33 HP:0000343
11 pulmonary arterial hypertension 33 HP:0002092
12 ovoid vertebral bodies 33 HP:0003300
13 short palm 33 HP:0004279
14 cone-shaped epiphysis 33 HP:0010579
15 short foot 33 HP:0001773
16 toe walking 33 HP:0040083
17 mitral valve prolapse 33 HP:0001634
18 mitral regurgitation 33 HP:0001653
19 thin upper lip vermilion 33 HP:0000219
20 aortic valve stenosis 33 HP:0001650
21 mitral stenosis 33 HP:0001718

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

Abdomen Liver:
hepatomegaly

Growth Height:
short stature

Skeletal Spine:
ovoid vertebral bodies

Cardiovascular Heart:
mitral valve prolapse
aortic valve stenosis
mitral valve insufficiency
mitral valve stenosis
valvular thickening, progressive
more
Skeletal Limbs:
cone-shaped epiphyses
short long tubular bones

Head And Neck Mouth:
thin upper lip

Head And Neck Nose:
shortened nose

Laboratory Abnormalities:
lysosomal-like storage vacuoles in various tissues

Respiratory Lung:
respiratory insufficiency

Skeletal:
joint stiffness
delayed bone age
decreased joint mobility

Head And Neck Face:
full cheeks
long philtrum
flat philtrum
'happy' face

Skeletal Feet:
toe walking
short feet

Skin Nails Hair Skin:
thick skin

Skeletal Hands:
short hands

Cardiovascular Vascular:
pulmonary artery hypertension

Respiratory Larynx:
laryngeal stenosis or insufficiency

Clinical features from OMIM:

614185

UMLS symptoms related to Geleophysic Dysplasia 2:


joint stiffness, thick skin

Drugs & Therapeutics for Geleophysic Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Geleophysic Dysplasia 2

Genetic Tests for Geleophysic Dysplasia 2

Genetic tests related to Geleophysic Dysplasia 2:

# Genetic test Affiliating Genes
1 Geleophysic Dysplasia 2 30 FBN1

Anatomical Context for Geleophysic Dysplasia 2

MalaCards organs/tissues related to Geleophysic Dysplasia 2:

42
Bone, Skin, Liver, Heart, Eye, Trachea

Publications for Geleophysic Dysplasia 2

Articles related to Geleophysic Dysplasia 2:

(show all 42)
# 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 )
2019
2
Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia. ( 30415012 )
2018
3
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. ( 29191498 )
2018
4
The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes. ( 30057829 )
2018
5
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. ( 30195254 )
2018
6
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. ( 27935852 )
2017
7
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. ( 28917829 )
2017
8
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. ( 27068007 )
2016
9
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. ( 27057656 )
2016
10
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. ( 24192049 )
2015
11
Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia. ( 25762570 )
2015
12
Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. ( 25850559 )
2015
13
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. ( 25979247 )
2015
14
Novel mutations in geleophysic dysplasia type 1. ( 24251637 )
2014
15
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. ( 23124041 )
2013
16
Geleophysic dysplasia associated with bilateral angle closure glaucoma. ( 23514648 )
2013
17
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. ( 24014090 )
2013
18
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )
2013
19
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )
2013
20
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. ( 21415077 )
2011
21
Clinical and morphological phenotype of geleophysic dysplasia. ( 18510828 )
2008
22
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. ( 18677313 )
2008
23
Natural history of cardiac involvement in geleophysic dysplasia. ( 15690380 )
2005
24
Geleophysic dysplasia: a patient with a severe form of the disorder. ( 16368598 )
2005
25
Ocular findings in geleophysic dysplasia. ( 15088061 )
2004
26
Perthes-like changes in geleophysic dysplasia. ( 11943981 )
2002
27
Multiple trigger fingers associated with geleophysic dysplasia. ( 12136306 )
2002
28
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. ( 10440835 )
1999
29
Patients with geleophysic dysplasia are not always geleophysic. ( 9295082 )
1997
30
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. ( 9399356 )
1997
31
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ( 8777926 )
1996
32
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. ( 8723086 )
1996
33
Geleophysic dysplasia vs. Myhre syndrome. ( 8923952 )
1996
34
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. ( 8533820 )
1995
35
Geleophysic dysplasia: a further case. ( 2019943 )
1991
36
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. ( 1852206 )
1991
37
Geleophysic dysplasia. ( 2090119 )
1990
38
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. ( 2380821 )
1990
39
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ( 3130853 )
1987
40
Acrofacial dysplasia resembling geleophysic dysplasia. ( 6507496 )
1984
41
Familial recurrence of geleophysic dysplasia. ( 6507494 )
1984
42
Geleophysic dysplasia. ( 6507495 )
1984

Variations for Geleophysic Dysplasia 2

UniProtKB/Swiss-Prot genetic disease variations for Geleophysic Dysplasia 2:

76
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Tyr1696Cys VAR_066527
2 FBN1 p.Tyr1699Cys VAR_066528
3 FBN1 p.Tyr1699Asp VAR_066529
4 FBN1 p.Cys1706Tyr VAR_066531
5 FBN1 p.Cys1719Trp VAR_066533
6 FBN1 p.Ala1728Thr VAR_066536
7 FBN1 p.Ala1728Val VAR_066537
8 FBN1 p.Cys1733Tyr VAR_066538
9 FBN1 p.Gly1762Ser VAR_066542

ClinVar genetic disease variations for Geleophysic Dysplasia 2:

6 (show top 50) (show all 98)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh37 Chromosome 15, 48779352: 48779352
2 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh38 Chromosome 15, 48487155: 48487155
3 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
4 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
5 FBN1 NM_000138.4(FBN1): c.5096A> G (p.Tyr1699Cys) single nucleotide variant Pathogenic rs387906622 GRCh37 Chromosome 15, 48755407: 48755407
6 FBN1 NM_000138.4(FBN1): c.5096A> G (p.Tyr1699Cys) single nucleotide variant Pathogenic rs387906622 GRCh38 Chromosome 15, 48463210: 48463210
7 FBN1 NM_000138.4(FBN1): c.5284G> A (p.Gly1762Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387906623 GRCh37 Chromosome 15, 48752455: 48752455
8 FBN1 NM_000138.4(FBN1): c.5284G> A (p.Gly1762Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387906623 GRCh38 Chromosome 15, 48460258: 48460258
9 FBN1 NM_000138.4(FBN1): c.5182G> A (p.Ala1728Thr) single nucleotide variant Pathogenic rs387906624 GRCh37 Chromosome 15, 48755321: 48755321
10 FBN1 NM_000138.4(FBN1): c.5182G> A (p.Ala1728Thr) single nucleotide variant Pathogenic rs387906624 GRCh38 Chromosome 15, 48463124: 48463124
11 FBN1 NM_000138.4(FBN1): c.5087A> G (p.Tyr1696Cys) single nucleotide variant Pathogenic rs387906625 GRCh37 Chromosome 15, 48755416: 48755416
12 FBN1 NM_000138.4(FBN1): c.5087A> G (p.Tyr1696Cys) single nucleotide variant Pathogenic rs387906625 GRCh38 Chromosome 15, 48463219: 48463219
13 FBN1 NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922185 GRCh37 Chromosome 15, 48797234: 48797234
14 FBN1 NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922185 GRCh38 Chromosome 15, 48505037: 48505037
15 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh37 Chromosome 15, 48762849: 48762849
16 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh38 Chromosome 15, 48470652: 48470652
17 FBN1 NM_000138.4(FBN1): c.4460-8G> A single nucleotide variant Pathogenic/Likely pathogenic rs193922204 GRCh37 Chromosome 15, 48760739: 48760739
18 FBN1 NM_000138.4(FBN1): c.4460-8G> A single nucleotide variant Pathogenic/Likely pathogenic rs193922204 GRCh38 Chromosome 15, 48468542: 48468542
19 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
20 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
21 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
22 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
23 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
24 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
25 FBN1 NM_000138.4(FBN1): c.83A> G (p.Asn28Ser) single nucleotide variant Uncertain significance rs193922245 GRCh37 Chromosome 15, 48936884: 48936884
26 FBN1 NM_000138.4(FBN1): c.83A> G (p.Asn28Ser) single nucleotide variant Uncertain significance rs193922245 GRCh38 Chromosome 15, 48644687: 48644687
27 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
28 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
29 FBN1 NM_000138.4(FBN1): c.164+5A> G single nucleotide variant Uncertain significance rs397515760 GRCh37 Chromosome 15, 48936798: 48936798
30 FBN1 NM_000138.4(FBN1): c.164+5A> G single nucleotide variant Uncertain significance rs397515760 GRCh38 Chromosome 15, 48644601: 48644601
31 FBN1 NM_000138.4(FBN1): c.4270C> G (p.Pro1424Ala) single nucleotide variant Uncertain significance rs201273753 GRCh37 Chromosome 15, 48764814: 48764814
32 FBN1 NM_000138.4(FBN1): c.4270C> G (p.Pro1424Ala) single nucleotide variant Uncertain significance rs201273753 GRCh38 Chromosome 15, 48472617: 48472617
33 FBN1 NM_000138.4(FBN1): c.4306G> A (p.Val1436Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377338217 GRCh37 Chromosome 15, 48764778: 48764778
34 FBN1 NM_000138.4(FBN1): c.4306G> A (p.Val1436Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377338217 GRCh38 Chromosome 15, 48472581: 48472581
35 FBN1 NM_000138.4(FBN1): c.4750G> A (p.Glu1584Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148888513 GRCh37 Chromosome 15, 48758053: 48758053
36 FBN1 NM_000138.4(FBN1): c.4750G> A (p.Glu1584Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148888513 GRCh38 Chromosome 15, 48465856: 48465856
37 FBN1 NM_000138.4(FBN1): c.7852G> A (p.Gly2618Arg) single nucleotide variant Uncertain significance rs141133182 GRCh37 Chromosome 15, 48707932: 48707932
38 FBN1 NM_000138.4(FBN1): c.7852G> A (p.Gly2618Arg) single nucleotide variant Uncertain significance rs141133182 GRCh38 Chromosome 15, 48415735: 48415735
39 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
40 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
41 FBN1 NM_000138.4(FBN1): c.1879C> T (p.Arg627Cys) single nucleotide variant Pathogenic rs727503057 GRCh37 Chromosome 15, 48797303: 48797303
42 FBN1 NM_000138.4(FBN1): c.1879C> T (p.Arg627Cys) single nucleotide variant Pathogenic rs727503057 GRCh38 Chromosome 15, 48505106: 48505106
43 FBN1 NM_000138.4(FBN1): c.1633C> T (p.Arg545Cys) single nucleotide variant Pathogenic rs730880099 GRCh38 Chromosome 15, 48510125: 48510125
44 FBN1 NM_000138.4(FBN1): c.1633C> T (p.Arg545Cys) single nucleotide variant Pathogenic rs730880099 GRCh37 Chromosome 15, 48802322: 48802322
45 FBN1 NM_000138.4(FBN1): c.6388G> A (p.Glu2130Lys) single nucleotide variant Pathogenic/Likely pathogenic rs794728334 GRCh38 Chromosome 15, 48437069: 48437069
46 FBN1 NM_000138.4(FBN1): c.6388G> A (p.Glu2130Lys) single nucleotide variant Pathogenic/Likely pathogenic rs794728334 GRCh37 Chromosome 15, 48729266: 48729266
47 FBN1 NM_000138.4(FBN1): c.4727T> C (p.Met1576Thr) single nucleotide variant Uncertain significance rs776625874 GRCh38 Chromosome 15, 48467958: 48467958
48 FBN1 NM_000138.4(FBN1): c.4727T> C (p.Met1576Thr) single nucleotide variant Uncertain significance rs776625874 GRCh37 Chromosome 15, 48760155: 48760155
49 FBN1 NM_000138.4(FBN1): c.3712G> A (p.Asp1238Asn) single nucleotide variant Pathogenic/Likely pathogenic rs794728208 GRCh37 Chromosome 15, 48777571: 48777571
50 FBN1 NM_000138.4(FBN1): c.3712G> A (p.Asp1238Asn) single nucleotide variant Pathogenic/Likely pathogenic rs794728208 GRCh38 Chromosome 15, 48485374: 48485374

Expression for Geleophysic Dysplasia 2

Search GEO for disease gene expression data for Geleophysic Dysplasia 2.

Pathways for Geleophysic Dysplasia 2

GO Terms for Geleophysic Dysplasia 2

Sources for Geleophysic Dysplasia 2

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