GPHYSD2
MCID: GLP004
MIFTS: 30

Geleophysic Dysplasia 2 (GPHYSD2)

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

Aliases & Classifications for Geleophysic Dysplasia 2

MalaCards integrated aliases for Geleophysic Dysplasia 2:

Name: Geleophysic Dysplasia 2 57 74 29 13 6 72
Gphysd2 57 74
Dysplasia, Geleophysic, Type 2 40
Geleophysic Dysplasia 72
Geleophysic Dwarfism 74

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:



External Ids:

MeSH 44 D004392
MedGen 42 C3280054
UMLS 72 C3280054 C3489726

Summaries for Geleophysic Dysplasia 2

UniProtKB/Swiss-Prot : 74 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 dysplasia and acromicric 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 skin and bone, and related phenotypes are hypertelorism and respiratory insufficiency

More information from OMIM: 614185 PS231050

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 dysplasia 32.0 LOC105370809 FBN1
2 acromicric dysplasia 31.0 LOC105370809 FBN1
3 geleophysic dwarfism 12.5
4 geleophysic dysplasia 1 11.7
5 dwarfism 10.3
6 mucopolysaccharidosis-plus syndrome 10.2
7 stiff skin syndrome 9.2 LOC105370809 FBN1

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:

32 (show all 22)
# 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 thickened skin 32 HP:0001072
17 toe walking 32 HP:0040083
18 mitral valve prolapse 32 HP:0001634
19 mitral regurgitation 32 HP:0001653
20 thin upper lip vermilion 32 HP:0000219
21 aortic valve stenosis 32 HP:0001650
22 mitral stenosis 32 HP:0001718

Symptoms via clinical synopsis from OMIM:

57
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
Head And Neck Mouth:
thin upper lip

Skeletal Hands:
short hands

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 Limbs:
cone-shaped epiphyses
short long tubular bones

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 29 FBN1

Anatomical Context for Geleophysic Dysplasia 2

MalaCards organs/tissues related to Geleophysic Dysplasia 2:

41
Skin, Bone

Publications for Geleophysic Dysplasia 2

Articles related to Geleophysic Dysplasia 2:

# Title Authors PMID Year
1
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. 8
26860060 2016
2
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 71
25979247 2015
3
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 8
21683322 2011
4
Geleophysic Dysplasia 71
20301776 2009
5
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. 71
1852206 1991
6
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review. 38
26875674 2016
7
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 38
27245183 2016

Variations for Geleophysic Dysplasia 2

ClinVar genetic disease variations for Geleophysic Dysplasia 2:

6 (show all 49)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1): c.5096A> G (p.Tyr1699Cys) single nucleotide variant Pathogenic rs387906622 15:48755407-48755407 15:48463210-48463210
2 FBN1 NM_000138.4(FBN1): c.5182G> A (p.Ala1728Thr) single nucleotide variant Pathogenic rs387906624 15:48755321-48755321 15:48463124-48463124
3 FBN1 NM_000138.4(FBN1): c.5087A> G (p.Tyr1696Cys) single nucleotide variant Pathogenic rs387906625 15:48755416-48755416 15:48463219-48463219
4 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 15:48758017-48758017 15:48465820-48465820
5 FBN1 NM_000138.4(FBN1): c.1879C> T (p.Arg627Cys) single nucleotide variant Pathogenic rs727503057 15:48797303-48797303 15:48505106-48505106
6 FBN1 NM_000138.4(FBN1): c.5243G> T (p.Cys1748Phe) single nucleotide variant Pathogenic 15:48752496-48752496 15:48460299-48460299
7 FBN1 NM_000138.4(FBN1): c.2305_2315del (p.Cys769fs) deletion Pathogenic 15:48788401-48788411 15:48496208-48496218
8 FBN1 NM_000138.4(FBN1): c.2581C> T (p.Arg861Ter) single nucleotide variant Pathogenic rs140583 15:48787416-48787416 15:48495219-48495219
9 FBN1 NM_000138.4(FBN1): c.1633C> T (p.Arg545Cys) single nucleotide variant Pathogenic rs730880099 15:48802322-48802322 15:48510125-48510125
10 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 15:48807579-48807579 15:48515382-48515382
11 FBN1 NM_000138.4(FBN1): c.2645C> T (p.Ala882Val) single nucleotide variant Pathogenic/Likely pathogenic rs794728195 15:48787352-48787352 15:48495155-48495155
12 FBN1 NM_000138.4(FBN1): c.6388G> A (p.Glu2130Lys) single nucleotide variant Pathogenic/Likely pathogenic rs794728334 15:48729266-48729266 15:48437069-48437069
13 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 15:48712949-48712949 15:48420752-48420752
14 FBN1 NM_000138.4(FBN1): c.4460-8G> A single nucleotide variant Pathogenic/Likely pathogenic rs193922204 15:48760739-48760739 15:48468542-48468542
15 FBN1 NM_000138.4(FBN1): c.5284G> A (p.Gly1762Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387906623 15:48752455-48752455 15:48460258-48460258
16 FBN1 NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922185 15:48797234-48797234 15:48505037-48505037
17 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137854480 15:48829826-48829826 15:48537629-48537629
18 FBN1 NM_000138.4(FBN1): c.4388A> G (p.Asn1463Ser) single nucleotide variant Pathogenic/Likely pathogenic rs1555397413 15:48762902-48762902 15:48470705-48470705
19 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 15:48722933-48722933 15:48430736-48430736
20 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 15:48760294-48760294 15:48468097-48468097
21 FBN1 NM_000138.4(FBN1): c.1462T> C (p.Cys488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1555400373 15:48807590-48807590 15:48515393-48515393
22 FBN1 NM_000138.4(FBN1): c.6661T> C (p.Cys2221Arg) single nucleotide variant Pathogenic/Likely pathogenic rs113543334 15:48725141-48725141 15:48432944-48432944
23 FBN1 NM_000138.4(FBN1): c.7828G> A (p.Glu2610Lys) single nucleotide variant Pathogenic/Likely pathogenic rs111984349 15:48707956-48707956 15:48415759-48415759
24 FBN1 NM_000138.4(FBN1): c.5546-1G> A single nucleotide variant Likely pathogenic 15:48741091-48741091 15:48448894-48448894
25 FBN1 NM_000138.4(FBN1): c.4049G> T (p.Cys1350Phe) single nucleotide variant Likely pathogenic rs1555397718 15:48766763-48766763 15:48474566-48474566
26 FBN1 NM_000138.4(FBN1): c.6183T> A (p.Cys2061Ter) single nucleotide variant Likely pathogenic 15:48730095-48730095 15:48437898-48437898
27 FBN1 NM_000138.4(FBN1): c.4306G> A (p.Val1436Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377338217 15:48764778-48764778 15:48472581-48472581
28 FBN1 NM_000138.4(FBN1): c.3712G> A (p.Asp1238Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs794728208 15:48777571-48777571 15:48485374-48485374
29 FBN1 NM_000138.4(FBN1): c.4750G> A (p.Glu1584Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148888513 15:48758053-48758053 15:48465856-48465856
30 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 15:48779352-48779352 15:48487155-48487155
31 FBN1 NM_000138.4(FBN1): c.2934C> G (p.Asp978Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs138438849 15:48782196-48782196 15:48489999-48489999
32 FBN1 NM_000138.4(FBN1): c.4998C> G (p.Thr1666=) single nucleotide variant Conflicting interpretations of pathogenicity rs141925790 15:48756163-48756163 15:48463966-48463966
33 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 15:48762849-48762849 15:48470652-48470652
34 FBN1 NM_000138.4(FBN1): c.8027C> T (p.Pro2676Leu) single nucleotide variant Uncertain significance rs146469379 15:48707757-48707757 15:48415560-48415560
35 FBN1 NM_000138.4(FBN1): c.2600A> G (p.Asn867Ser) single nucleotide variant Uncertain significance rs145464311 15:48787397-48787397 15:48495200-48495200
36 FBN1 NM_000138.4(FBN1): c.3462C> T (p.Ile1154=) single nucleotide variant Uncertain significance rs144339604 15:48779510-48779510 15:48487313-48487313
37 FBN1 NM_000138.4(FBN1): c.7852G> A (p.Gly2618Arg) single nucleotide variant Uncertain significance rs141133182 15:48707932-48707932 15:48415735-48415735
38 FBN1 NM_000138.4(FBN1): c.2287T> G (p.Cys763Gly) single nucleotide variant Uncertain significance rs1555399361 15:48789469-48789469 15:48497272-48497272
39 FBN1 NM_000138.4(FBN1): c.8232G> C (p.Gln2744His) single nucleotide variant Uncertain significance rs376119827 15:48703571-48703571 15:48411374-48411374
40 FBN1 NM_000138.4(FBN1): c.4358C> T (p.Pro1453Leu) single nucleotide variant Uncertain significance rs368650399 15:48762932-48762932 15:48470735-48470735
41 FBN1 NM_000138.4(FBN1): c.793A> T (p.Thr265Ser) single nucleotide variant Uncertain significance rs982468949 15:48826346-48826346 15:48534149-48534149
42 FBN1 NM_000138.4(FBN1): c.8138A> G (p.Glu2713Gly) single nucleotide variant Uncertain significance rs1555393658 15:48704854-48704854 15:48412657-48412657
43 FBN1 NM_000138.4(FBN1): c.4727T> C (p.Met1576Thr) single nucleotide variant Uncertain significance rs776625874 15:48760155-48760155 15:48467958-48467958
44 FBN1 NM_000138.4(FBN1): c.2206A> G (p.Asn736Asp) single nucleotide variant Uncertain significance rs878853678 15:48789550-48789550 15:48497353-48497353
45 FBN1 NM_000138.4(FBN1): c.6957T> C (p.Asn2319=) single nucleotide variant Uncertain significance 15:48720583-48720583 15:48428386-48428386
46 FBN1 NM_000138.4(FBN1): c.4270C> G (p.Pro1424Ala) single nucleotide variant Uncertain significance rs201273753 15:48764814-48764814 15:48472617-48472617
47 FBN1 NM_000138.4(FBN1): c.164+5A> G single nucleotide variant Uncertain significance rs397515760 15:48936798-48936798 15:48644601-48644601
48 FBN1 NM_000138.4(FBN1): c.4462G> T (p.Val1488Leu) single nucleotide variant Uncertain significance 15:48760729-48760729 15:48468532-48468532
49 FBN1 NM_000138.4(FBN1): c.83A> G (p.Asn28Ser) single nucleotide variant Uncertain significance rs193922245 15:48936884-48936884 15:48644687-48644687

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

74
# 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

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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73 UMLS via Orphanet
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