GPHYSD1
MCID: GLP003
MIFTS: 32

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 73 29 13 6 71
Gphysd1 56 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). Affiliated tissues include skin, bone and heart, and related phenotypes are pectus excavatum and seizures

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:

# Related Disease Score Top Affiliating Genes
1 geleophysic dysplasia 12.0
2 geleophysic dysplasia 2 11.4
3 chromosome 8q22.1 duplication syndrome 11.3
4 dwarfism 10.3
5 mucopolysaccharidosis-plus syndrome 10.2

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 pectus excavatum 31 HP:0000767
2 seizures 31 HP:0001250
3 osteopenia 31 HP:0000938
4 global developmental delay 31 HP:0001263
5 hepatomegaly 31 HP:0002240
6 joint stiffness 31 HP:0001387
7 short nose 31 HP:0003196
8 short stature 31 HP:0004322
9 small nail 31 HP:0001792
10 smooth philtrum 31 HP:0000319
11 anteverted nares 31 HP:0000463
12 long philtrum 31 HP:0000343
13 coxa valga 31 HP:0002673
14 short palm 31 HP:0004279
15 congestive heart failure 31 HP:0001635
16 short long bone 31 HP:0003026
17 lack of skin elasticity 31 HP:0100679
18 short foot 31 HP:0001773
19 thickened skin 31 HP:0001072
20 wide mouth 31 HP:0000154
21 upslanted palpebral fissure 31 HP:0000582
22 tracheal stenosis 31 HP:0002777
23 mitral stenosis 31 HP:0001718
24 round face 31 HP:0000311
25 thickened helices 31 HP:0000391
26 high pitched voice 31 HP:0001620
27 camptodactyly of finger 31 HP:0100490
28 wrist flexion contracture 31 HP:0001239
29 aortic valve stenosis 31 HP:0001650
30 j-shaped sella turcica 31 HP:0002680
31 joint contracture of the hand 31 HP:0009473
32 irregular capital femoral epiphysis 31 HP:0005041
33 tricuspid stenosis 31 HP:0010446
34 hypoplasia of the capital femoral epiphysis 31 HP:0003090
35 short metacarpals with rounded proximal ends 31 HP:0006161

Symptoms via clinical synopsis from OMIM:

56
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal:
osteopenia

Head And Neck Nose:
short nose
anteverted nares

Skeletal Pelvis:
coxa valga

Head And Neck Mouth:
wide mouth

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

Abdomen Liver:
hepatomegaly

Growth Height:
short stature
normal upper/lower segment ratio

Skin Nails Hair Skin:
thickened skin
tight skin

Respiratory Airways:
tracheal stenosis
brainstem bronchi stenosis

Head And Neck Ears:
thickened helices

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

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
Skin, Bone, 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. 56 6
30195254 2018
2
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. 56 6
24014090 2013
3
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 56 6
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 all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTSL2 NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu)SNV Pathogenic 693 rs113994121 9:136405747-136405747 9:133540625-133540625
2 ADAMTSL2 NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His)SNV Pathogenic 694 rs113994122 9:136404921-136404921 9:133539799-133539799
3 ADAMTSL2 NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)SNV Pathogenic 695 rs113994123 9:136404923-136404923 9:133539801-133539801
4 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg)SNV Pathogenic 696 rs113994124 9:136435468-136435468 9:133570346-133570346
5 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter)SNV Pathogenic 697 rs113994125 9:136435623-136435623 9:133570501-133570501
6 ADAMTSL2 NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln)SNV Pathogenic 30944 rs387907064 9:136402651-136402651 9:133537529-133537529
7 ADAMTSL2 NM_014694.4(ADAMTSL2):c.661C>T (p.Arg221Cys)SNV Pathogenic 30945 rs387907065 9:136406102-136406102 9:133540980-133540980
8 ADAMTSL2 NM_014694.4(ADAMTSL2):c.234-2A>GSNV Pathogenic 427943 rs775621284 9:136403469-136403469 9:133538347-133538347
9 ADAMTSL2 NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn)SNV Pathogenic 624558 rs761886575 9:136405806-136405806 9:133540684-133540684
10 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2717C>T (p.Pro906Leu)SNV Uncertain significance 225293 rs969732840 9:136439089-136439089 9:133573967-133573967
11 ADAMTSL2 NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr)SNV Uncertain significance 524194 rs764516811 9:136405800-136405800 9:133540678-133540678
12 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=)SNV Uncertain significance 365599 rs7868941 9:136421044-136421044 9:133555922-133555922
13 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=)SNV Uncertain significance 365611 rs62637566 9:136438985-136438985 9:133573863-133573863
14 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=)SNV Likely benign 518395 rs534165083 9:136433542-136433542 9:133568420-133568420
15 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=)SNV Benign 518396 rs1064975 9:136434598-136434598 9:133569476-133569476
16 ADAMTSL2 NM_014694.4(ADAMTSL2):c.683-12T>GSNV Benign 365578 rs9802778 9:136409580-136409580 9:133544458-133544458
17 ADAMTSL2 NM_014694.4(ADAMTSL2):c.840A>T (p.Ala280=)SNV Benign 365582 rs2073875 9:136412236-136412236 9:133547114-133547114
18 ADAMTSL2 NM_014694.4(ADAMTSL2):c.859A>C (p.Arg287=)SNV Benign 365583 rs2073876 9:136412255-136412255 9:133547133-133547133
19 ADAMTSL2 NM_014694.4(ADAMTSL2):c.774C>T (p.Asp258=)SNV Benign 365581 rs2073874 9:136412170-136412170 9:133547048-133547048
20 ADAMTSL2 NM_014694.4(ADAMTSL2):c.939+11C>TSNV Benign 365585 rs2073878 9:136412346-136412346 9:133547224-133547224

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

GO Terms for Geleophysic Dysplasia 1

Sources for Geleophysic Dysplasia 1

3 CDC
7 CNVD
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11 DGIdb
17 EFO
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63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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