GPHYSD2
MCID: GLP004
MIFTS: 30

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 56 73 29 13 6 71
Gphysd2 56 73
Dysplasia, Geleophysic, Type 2 39
Geleophysic Dysplasia 71
Geleophysic Dwarfism 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
early death in some patients due to cardiorespiratory involvement


HPO:

31
geleophysic dysplasia 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Geleophysic Dysplasia 2

UniProtKB/Swiss-Prot : 73 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 geleophysic dysplasia 1, 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 respiratory insufficiency and hepatomegaly

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 12.0
2 geleophysic dysplasia 1 11.7
3 acromicric dysplasia 11.3
4 dwarfism 10.3
5 mucopolysaccharidosis-plus syndrome 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:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 very rare (1%) HP:0002093
2 hepatomegaly 31 very rare (1%) HP:0002240
3 short stature 31 very rare (1%) HP:0004322
4 pulmonary arterial hypertension 31 very rare (1%) HP:0002092
5 aortic valve stenosis 31 very rare (1%) HP:0001650
6 tricuspid stenosis 31 very rare (1%) HP:0010446
7 hypertelorism 31 HP:0000316
8 delayed skeletal maturation 31 HP:0002750
9 joint stiffness 31 HP:0001387
10 short nose 31 HP:0003196
11 smooth philtrum 31 HP:0000319
12 full cheeks 31 HP:0000293
13 long philtrum 31 HP:0000343
14 ovoid vertebral bodies 31 HP:0003300
15 short palm 31 HP:0004279
16 cone-shaped epiphysis 31 HP:0010579
17 short foot 31 HP:0001773
18 thickened skin 31 HP:0001072
19 toe walking 31 HP:0040083
20 mitral valve prolapse 31 HP:0001634
21 thin upper lip vermilion 31 HP:0000219
22 mitral stenosis 31 HP:0001718
23 mitral regurgitation 31 HP:0001653

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56
26860060 2016
2
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 6
25979247 2015
3
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 56
21683322 2011
4
Geleophysic Dysplasia 6
20301776 2009
5
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. 6
1852206 1991
6
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking. 61
31516831 2019
7
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review. 61
26875674 2016
8
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 61
27245183 2016

Variations for Geleophysic Dysplasia 2

ClinVar genetic disease variations for Geleophysic Dysplasia 2:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys)SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
2 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
3 FBN1 NM_000138.4(FBN1):c.5096A>G (p.Tyr1699Cys)SNV Pathogenic 29696 rs387906622 15:48755407-48755407 15:48463210-48463210
4 FBN1 NM_000138.4(FBN1):c.5182G>A (p.Ala1728Thr)SNV Pathogenic 29698 rs387906624 15:48755321-48755321 15:48463124-48463124
5 FBN1 NM_000138.4(FBN1):c.5087A>G (p.Tyr1696Cys)SNV Pathogenic 29699 rs387906625 15:48755416-48755416 15:48463219-48463219
6 FBN1 NM_000138.4(FBN1):c.4786C>T (p.Arg1596Ter)SNV Pathogenic 36082 rs113871094 15:48758017-48758017 15:48465820-48465820
7 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter)SNV Pathogenic 265401 rs140583 15:48787416-48787416 15:48495219-48495219
8 FBN1 NM_000138.4(FBN1):c.5243G>T (p.Cys1748Phe)SNV Pathogenic 590974 rs1566902569 15:48752496-48752496 15:48460299-48460299
9 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs)deletion Pathogenic 625943 rs1566911957 15:48788401-48788411 15:48496204-48496214
10 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys)SNV Pathogenic/Likely pathogenic 264272 rs111984349 15:48707956-48707956 15:48415759-48415759
11 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg)SNV Pathogenic/Likely pathogenic 439708 rs113543334 15:48725141-48725141 15:48432944-48432944
12 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser)SNV Pathogenic/Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
13 FBN1 NM_000138.4(FBN1):c.1468+5G>ASNV Pathogenic/Likely pathogenic 42284 rs397515757 15:48807579-48807579 15:48515382-48515382
14 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg)SNV Pathogenic/Likely pathogenic 457162 rs1555400373 15:48807590-48807590 15:48515393-48515393
15 FBN1 NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr)SNV Pathogenic/Likely pathogenic 36107 rs193922228 15:48722933-48722933 15:48430736-48430736
16 FBN1 NM_000138.4(FBN1):c.4460-8G>ASNV Pathogenic/Likely pathogenic 36075 rs193922204 15:48760739-48760739 15:48468542-48468542
17 FBN1 NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys)SNV Pathogenic/Likely pathogenic 36078 rs111401431 15:48760294-48760294 15:48468097-48468097
18 FBN1 NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys)SNV Pathogenic/Likely pathogenic 36042 rs193922185 15:48797234-48797234 15:48505037-48505037
19 FBN1 NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser)SNV Pathogenic/Likely pathogenic 29697 rs387906623 15:48752455-48752455 15:48460258-48460258
20 FBN1 NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr)SNV Pathogenic/Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
21 FBN1 NM_000138.4(FBN1):c.718C>T (p.Arg240Cys)SNV Pathogenic/Likely pathogenic 16461 rs137854480 15:48829826-48829826 15:48537629-48537629
22 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys)SNV Pathogenic/Likely pathogenic 200191 rs794728334 15:48729266-48729266 15:48437069-48437069
23 FBN1 NM_000138.4(FBN1):c.2645C>T (p.Ala882Val)SNV Pathogenic/Likely pathogenic 200001 rs794728195 15:48787352-48787352 15:48495155-48495155
24 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe)SNV Likely pathogenic 549204 rs1555397718 15:48766763-48766763 15:48474566-48474566
25 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter)SNV Likely pathogenic 626100 rs71467648 15:48730095-48730095 15:48437898-48437898
26 FBN1 NM_000138.4(FBN1):c.5546-1G>ASNV Likely pathogenic 626102 rs1566899590 15:48741091-48741091 15:48448894-48448894
27 FBN1 NM_000138.4(FBN1):c.3509G>A (p.Arg1170His)SNV Conflicting interpretations of pathogenicity 16451 rs137854475 15:48779352-48779352 15:48487155-48487155
28 FBN1 NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn)SNV Conflicting interpretations of pathogenicity 200022 rs794728208 15:48777571-48777571 15:48485374-48485374
29 FBN1 NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu)SNV Conflicting interpretations of pathogenicity 199947 rs138438849 15:48782196-48782196 15:48489999-48489999
30 FBN1 NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly)SNV Conflicting interpretations of pathogenicity 36074 rs61730054 15:48762849-48762849 15:48470652-48470652
31 FBN1 NM_000138.4(FBN1):c.4306G>A (p.Val1436Met)SNV Conflicting interpretations of pathogenicity 42356 rs377338217 15:48764778-48764778 15:48472581-48472581
32 FBN1 NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys)SNV Conflicting interpretations of pathogenicity 42370 rs148888513 15:48758053-48758053 15:48465856-48465856
33 FBN1 NM_000138.4(FBN1):c.4998C>G (p.Thr1666=)SNV Conflicting interpretations of pathogenicity 381319 rs141925790 15:48756163-48756163 15:48463966-48463966
34 FBN1 NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu)SNV Uncertain significance 418202 rs146469379 15:48707757-48707757 15:48415560-48415560
35 FBN1 NM_000138.4(FBN1):c.164+5A>GSNV Uncertain significance 42289 rs397515760 15:48936798-48936798 15:48644601-48644601
36 FBN1 NM_000138.4(FBN1):c.4270C>G (p.Pro1424Ala)SNV Uncertain significance 42355 rs201273753 15:48764814-48764814 15:48472617-48472617
37 FBN1 NM_000138.4(FBN1):c.3462C>T (p.Ile1154=)SNV Uncertain significance 495593 rs144339604 15:48779510-48779510 15:48487313-48487313
38 FBN1 NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu)SNV Uncertain significance 501654 rs368650399 15:48762932-48762932 15:48470735-48470735
39 FBN1 NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser)SNV Uncertain significance 519804 rs145464311 15:48787397-48787397 15:48495200-48495200
40 FBN1 NM_000138.4(FBN1):c.7852G>A (p.Gly2618Arg)SNV Uncertain significance 42434 rs141133182 15:48707932-48707932 15:48415735-48415735
41 FBN1 NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp)SNV Uncertain significance 237085 rs878853678 15:48789550-48789550 15:48497353-48497353
42 FBN1 NM_000138.4(FBN1):c.83A>G (p.Asn28Ser)SNV Uncertain significance 36130 rs193922245 15:48936884-48936884 15:48644687-48644687
43 FBN1 NM_000138.4(FBN1):c.4727T>C (p.Met1576Thr)SNV Uncertain significance 200054 rs776625874 15:48760155-48760155 15:48467958-48467958
44 FBN1 NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu)SNV Uncertain significance 626103 rs1566904712 15:48760729-48760729 15:48468532-48468532
45 FBN1 NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly)SNV Uncertain significance 549070 rs1555399361 15:48789469-48789469 15:48497272-48497272
46 FBN1 NM_000138.4(FBN1):c.6957T>C (p.Asn2319=)SNV Uncertain significance 626101 rs1290478839 15:48720583-48720583 15:48428386-48428386
47 FBN1 NM_000138.4(FBN1):c.793A>T (p.Thr265Ser)SNV Uncertain significance 527175 rs982468949 15:48826346-48826346 15:48534149-48534149
48 FBN1 NM_000138.4(FBN1):c.8138A>G (p.Glu2713Gly)SNV Uncertain significance 548587 rs1555393658 15:48704854-48704854 15:48412657-48412657
49 FBN1 NM_000138.4(FBN1):c.8232G>C (p.Gln2744His)SNV Uncertain significance 457269 rs376119827 15:48703571-48703571 15:48411374-48411374

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

73
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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