MCID: GLP004
MIFTS: 31

Geleophysic Dysplasia 2

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

Aliases & Classifications for Geleophysic Dysplasia 2

MalaCards integrated aliases for Geleophysic Dysplasia 2:

Name: Geleophysic Dysplasia 2 57 75 29 13 6 73
Gphysd2 57 75
Dysplasia, Geleophysic, Type 2 40
Geleophysic Dysplasia 73
Geleophysic Dwarfism 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
early death in some patients due to cardiorespiratory involvement


HPO:

32
geleophysic dysplasia 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Geleophysic Dysplasia 2

UniProtKB/Swiss-Prot : 75 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 12.2
2 geleophysic dysplasia 11.2
3 geleophysic dysplasia 1 11.1
4 dwarfism 10.0

Symptoms & Phenotypes for Geleophysic Dysplasia 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Abdomen Liver:
hepatomegaly

Growth Height:
short stature

Skeletal Spine:
ovoid vertebral bodies

Skeletal Feet:
toe walking
short feet

Skeletal Hands:
short hands

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

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

Skin Nails Hair Skin:
thick skin

Cardiovascular Vascular:
pulmonary artery hypertension

Respiratory Larynx:
laryngeal stenosis or insufficiency


Clinical features from OMIM:

614185

Human phenotypes related to Geleophysic Dysplasia 2:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 respiratory insufficiency 32 HP:0002093
3 hepatomegaly 32 HP:0002240
4 delayed skeletal maturation 32 HP:0002750
5 joint stiffness 32 HP:0001387
6 short nose 32 HP:0003196
7 smooth philtrum 32 HP:0000319
8 short stature 32 HP:0004322
9 full cheeks 32 HP:0000293
10 long philtrum 32 HP:0000343
11 pulmonary arterial hypertension 32 HP:0002092
12 ovoid vertebral bodies 32 HP:0003300
13 short palm 32 HP:0004279
14 cone-shaped epiphysis 32 HP:0010579
15 short foot 32 HP:0001773
16 mitral regurgitation 32 HP:0001653
17 mitral valve prolapse 32 HP:0001634
18 thin upper lip vermilion 32 HP:0000219
19 aortic valve stenosis 32 HP:0001650
20 mitral stenosis 32 HP:0001718
21 toe walking 32 HP:0040083

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 29 FBN1

Anatomical Context for Geleophysic Dysplasia 2

MalaCards organs/tissues related to Geleophysic Dysplasia 2:

41
Bone, Skin, Liver, Heart, Eye, Trachea

Publications for Geleophysic Dysplasia 2

Articles related to Geleophysic Dysplasia 2:

(show all 39)
# Title Authors Year
1
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. ( 29191498 )
2017
2
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. ( 28917829 )
2017
3
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. ( 27935852 )
2017
4
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. ( 27068007 )
2016
5
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. ( 27057656 )
2016
6
Geleophysic dysplasia: A novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. ( 25850559 )
2015
7
Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia: A novel mouse model providing insights on geleophysic dysplasia. ( 25762570 )
2015
8
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )
2013
9
Geleophysic dysplasia associated with bilateral angle closure glaucoma. ( 23514648 )
2013
10
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. ( 24014090 )
2013
11
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. ( 23124041 )
2013
12
Novel mutations in geleophysic dysplasia. ( 24251637 )
2013
13
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )
2013
14
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. ( 24192049 )
2013
15
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. ( 23133647 )
2012
16
Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. ( 21683322 )
2011
17
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. ( 21415077 )
2011
18
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. ( 18677313 )
2008
19
Clinical and morphological phenotype of geleophysic dysplasia. ( 18510828 )
2008
20
Geleophysic dysplasia: a patient with a severe form of the disorder. ( 16368598 )
2005
21
Natural history of cardiac involvement in geleophysic dysplasia. ( 15690380 )
2005
22
Ocular findings in geleophysic dysplasia. ( 15088061 )
2004
23
Perthes-like changes in geleophysic dysplasia. ( 11943981 )
2002
24
Multiple trigger fingers associated with geleophysic dysplasia. ( 12136306 )
2002
25
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. ( 10440835 )
1999
26
Patients with geleophysic dysplasia are not always geleophysic. ( 9295082 )
1997
27
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. ( 9399356 )
1997
28
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ( 8777926 )
1996
29
Geleophysic dysplasia vs. Myhre syndrome. ( 8923952 )
1996
30
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. ( 8723086 )
1996
31
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. ( 8533820 )
1995
32
Geleophysic Dysplasia ( 20301776 )
1993
33
Geleophysic dysplasia: a further case. ( 2019943 )
1991
34
Geleophysic dysplasia. ( 2090119 )
1990
35
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. ( 2380821 )
1990
36
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ( 3130853 )
1987
37
Familial recurrence of geleophysic dysplasia. ( 6507494 )
1984
38
Geleophysic dysplasia. ( 6507495 )
1984
39
Acrofacial dysplasia resembling geleophysic dysplasia. ( 6507496 )
1984

Variations for Geleophysic Dysplasia 2

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

75
# 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 all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
2 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
3 FBN1 NM_000138.4(FBN1): c.5096A> G (p.Tyr1699Cys) single nucleotide variant Pathogenic rs387906622 GRCh37 Chromosome 15, 48755407: 48755407
4 FBN1 NM_000138.4(FBN1): c.5096A> G (p.Tyr1699Cys) single nucleotide variant Pathogenic rs387906622 GRCh38 Chromosome 15, 48463210: 48463210
5 FBN1 NM_000138.4(FBN1): c.5284G> A (p.Gly1762Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387906623 GRCh37 Chromosome 15, 48752455: 48752455
6 FBN1 NM_000138.4(FBN1): c.5284G> A (p.Gly1762Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387906623 GRCh38 Chromosome 15, 48460258: 48460258
7 FBN1 NM_000138.4(FBN1): c.5182G> A (p.Ala1728Thr) single nucleotide variant Pathogenic rs387906624 GRCh37 Chromosome 15, 48755321: 48755321
8 FBN1 NM_000138.4(FBN1): c.5182G> A (p.Ala1728Thr) single nucleotide variant Pathogenic rs387906624 GRCh38 Chromosome 15, 48463124: 48463124
9 FBN1 NM_000138.4(FBN1): c.5087A> G (p.Tyr1696Cys) single nucleotide variant Pathogenic rs387906625 GRCh37 Chromosome 15, 48755416: 48755416
10 FBN1 NM_000138.4(FBN1): c.5087A> G (p.Tyr1696Cys) single nucleotide variant Pathogenic rs387906625 GRCh38 Chromosome 15, 48463219: 48463219
11 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
12 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
13 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
14 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
15 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
16 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
17 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
18 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
19 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
20 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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