GPHYSD1
MCID: GLP003
MIFTS: 33

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 58 76 30 13 6 74
Gphysd1 58 76
Geleophysic Dysplasia 74
Geleophysic Dwarfism 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
lysosomal storage vacuoles in trachea, liver, cartilage, and heart


HPO:

33
geleophysic dysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Geleophysic Dysplasia 1

OMIM : 58 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 dwarfism and geleophysic dysplasia, 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 osteopenia

UniProtKB/Swiss-Prot : 76 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 dwarfism 12.4
2 geleophysic dysplasia 11.8
3 geleophysic dysplasia 2 11.3
4 chromosome 8q22.1 duplication syndrome 11.2
5 mucopolysaccharidosis-plus syndrome 10.2
6 dwarfism 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:

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

Symptoms via clinical synopsis from OMIM:

58
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Neurologic Central Nervous System:
seizures
developmental delay

Head And Neck Nose:
short nose
anteverted nares

Skeletal Pelvis:
coxa valga

Skin Nails Hair Skin:
thickened skin
tight skin

Head And Neck Ears:
thickened helices

Skeletal Skull:
j-shaped sella turcica

Skeletal Hands:
short hands
wrist contractures
finger contractures
short metacarpals with rounded proximal ends

Skeletal Feet:
short feet
short, plump tubular bones

Cardiovascular Vascular:
aortic stenosis

Head And Neck Face:
long, smooth philtrum
round, full face
'pleasant, happy-nature' appearance

Head And Neck Head:
normal head circumference

Skeletal:
osteopenia

Abdomen Liver:
hepatomegaly

Growth Height:
short stature
normal upper/lower segment ratio

Head And Neck Mouth:
wide mouth

Respiratory Airways:
tracheal stenosis
brainstem bronchi stenosis

Cardiovascular Heart:
mitral stenosis
tricuspid stenosis
cardiac failure

Growth Weight:
normal birth weight

Skeletal Limbs:
shortened long tubular bones
small, irregular capital femoral epiphyses

Voice:
high-pitched voice

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 30 ADAMTSL2

Anatomical Context for Geleophysic Dysplasia 1

MalaCards organs/tissues related to Geleophysic Dysplasia 1:

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

Publications for Geleophysic Dysplasia 1

Articles related to Geleophysic Dysplasia 1:

(show all 40)
# 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
Novel mutations in geleophysic dysplasia type 1. ( 24251637 )
2014
14
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. ( 23124041 )
2013
15
Geleophysic dysplasia associated with bilateral angle closure glaucoma. ( 23514648 )
2013
16
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. ( 24014090 )
2013
17
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )
2013
18
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )
2013
19
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. ( 21415077 )
2011
20
Clinical and morphological phenotype of geleophysic dysplasia. ( 18510828 )
2008
21
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. ( 18677313 )
2008
22
Natural history of cardiac involvement in geleophysic dysplasia. ( 15690380 )
2005
23
Geleophysic dysplasia: a patient with a severe form of the disorder. ( 16368598 )
2005
24
Ocular findings in geleophysic dysplasia. ( 15088061 )
2004
25
Perthes-like changes in geleophysic dysplasia. ( 11943981 )
2002
26
Multiple trigger fingers associated with geleophysic dysplasia. ( 12136306 )
2002
27
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. ( 10440835 )
1999
28
Patients with geleophysic dysplasia are not always geleophysic. ( 9295082 )
1997
29
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. ( 9399356 )
1997
30
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ( 8777926 )
1996
31
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. ( 8723086 )
1996
32
Geleophysic dysplasia vs. Myhre syndrome. ( 8923952 )
1996
33
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. ( 8533820 )
1995
34
Geleophysic dysplasia: a further case. ( 2019943 )
1991
35
Geleophysic dysplasia. ( 2090119 )
1990
36
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. ( 2380821 )
1990
37
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ( 3130853 )
1987
38
Acrofacial dysplasia resembling geleophysic dysplasia. ( 6507496 )
1984
39
Familial recurrence of geleophysic dysplasia. ( 6507494 )
1984
40
Geleophysic dysplasia. ( 6507495 )
1984

Variations for Geleophysic Dysplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Geleophysic Dysplasia 1:

76 (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

ClinVar genetic disease variations for Geleophysic Dysplasia 1:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.440C> T (p.Pro147Leu) single nucleotide variant Pathogenic rs113994121 GRCh37 Chromosome 9, 136405747: 136405747
2 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.440C> T (p.Pro147Leu) single nucleotide variant Pathogenic rs113994121 GRCh38 Chromosome 9, 133540625: 133540625
3 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.338G> A (p.Arg113His) single nucleotide variant Pathogenic rs113994122 GRCh37 Chromosome 9, 136404921: 136404921
4 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.338G> A (p.Arg113His) single nucleotide variant Pathogenic rs113994122 GRCh38 Chromosome 9, 133539799: 133539799
5 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.340G> A (p.Glu114Lys) single nucleotide variant Pathogenic rs113994123 GRCh37 Chromosome 9, 136404923: 136404923
6 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.340G> A (p.Glu114Lys) single nucleotide variant Pathogenic rs113994123 GRCh38 Chromosome 9, 133539801: 133539801
7 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.2431G> A (p.Gly811Arg) single nucleotide variant Pathogenic rs113994124 GRCh37 Chromosome 9, 136435468: 136435468
8 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.2431G> A (p.Gly811Arg) single nucleotide variant Pathogenic rs113994124 GRCh38 Chromosome 9, 133570346: 133570346
9 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.2586G> A (p.Trp862Ter) single nucleotide variant Pathogenic rs113994125 GRCh37 Chromosome 9, 136435623: 136435623
10 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.2586G> A (p.Trp862Ter) single nucleotide variant Pathogenic rs113994125 GRCh38 Chromosome 9, 133570501: 133570501
11 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.215G> A (p.Arg72Gln) single nucleotide variant Pathogenic rs387907064 GRCh37 Chromosome 9, 136402651: 136402651
12 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.215G> A (p.Arg72Gln) single nucleotide variant Pathogenic rs387907064 GRCh38 Chromosome 9, 133537529: 133537529
13 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.661C> T (p.Arg221Cys) single nucleotide variant Pathogenic rs387907065 GRCh37 Chromosome 9, 136406102: 136406102
14 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.661C> T (p.Arg221Cys) single nucleotide variant Pathogenic rs387907065 GRCh38 Chromosome 9, 133540980: 133540980
15 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.2717C> T (p.Pro906Leu) single nucleotide variant Uncertain significance rs969732840 GRCh38 Chromosome 9, 133573967: 133573967
16 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.2717C> T (p.Pro906Leu) single nucleotide variant Uncertain significance rs969732840 GRCh37 Chromosome 9, 136439089: 136439089
17 ADAMTSL2 NM_014694.3(ADAMTSL2): c.683-12T> G single nucleotide variant Benign rs9802778 GRCh38 Chromosome 9, 133544458: 133544458
18 ADAMTSL2 NM_014694.3(ADAMTSL2): c.683-12T> G single nucleotide variant Benign rs9802778 GRCh37 Chromosome 9, 136409580: 136409580
19 ADAMTSL2 NM_014694.3(ADAMTSL2): c.840A> T (p.Ala280=) single nucleotide variant Benign rs2073875 GRCh38 Chromosome 9, 133547114: 133547114
20 ADAMTSL2 NM_014694.3(ADAMTSL2): c.840A> T (p.Ala280=) single nucleotide variant Benign rs2073875 GRCh37 Chromosome 9, 136412236: 136412236
21 ADAMTSL2 NM_014694.3(ADAMTSL2): c.859A> C (p.Arg287=) single nucleotide variant Benign rs2073876 GRCh38 Chromosome 9, 133547133: 133547133
22 ADAMTSL2 NM_014694.3(ADAMTSL2): c.859A> C (p.Arg287=) single nucleotide variant Benign rs2073876 GRCh37 Chromosome 9, 136412255: 136412255
23 ADAMTSL2 NM_014694.3(ADAMTSL2): c.774C> T (p.Asp258=) single nucleotide variant Benign rs2073874 GRCh38 Chromosome 9, 133547048: 133547048
24 ADAMTSL2 NM_014694.3(ADAMTSL2): c.774C> T (p.Asp258=) single nucleotide variant Benign rs2073874 GRCh37 Chromosome 9, 136412170: 136412170
25 ADAMTSL2 NM_014694.3(ADAMTSL2): c.939+11C> T single nucleotide variant Benign rs2073878 GRCh38 Chromosome 9, 133547224: 133547224
26 ADAMTSL2 NM_014694.3(ADAMTSL2): c.939+11C> T single nucleotide variant Benign rs2073878 GRCh37 Chromosome 9, 136412346: 136412346
27 ADAMTSL2 NM_014694.3(ADAMTSL2): c.1641C> T (p.His547=) single nucleotide variant Uncertain significance rs7868941 GRCh38 Chromosome 9, 133555922: 133555922
28 ADAMTSL2 NM_014694.3(ADAMTSL2): c.1641C> T (p.His547=) single nucleotide variant Uncertain significance rs7868941 GRCh37 Chromosome 9, 136421044: 136421044
29 ADAMTSL2 NM_014694.3(ADAMTSL2): c.2613G> A (p.Val871=) single nucleotide variant Uncertain significance rs62637566 GRCh37 Chromosome 9, 136438985: 136438985
30 ADAMTSL2 NM_014694.3(ADAMTSL2): c.2613G> A (p.Val871=) single nucleotide variant Uncertain significance rs62637566 GRCh38 Chromosome 9, 133573863: 133573863
31 ADAMTSL2 NM_014694.3(ADAMTSL2): c.234-2A> G single nucleotide variant Pathogenic rs775621284 GRCh38 Chromosome 9, 133538347: 133538347
32 ADAMTSL2 NM_014694.3(ADAMTSL2): c.234-2A> G single nucleotide variant Pathogenic rs775621284 GRCh37 Chromosome 9, 136403469: 136403469
33 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.2022C> T (p.Pro674=) single nucleotide variant Likely benign rs534165083 GRCh37 Chromosome 9, 136433542: 136433542
34 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.2022C> T (p.Pro674=) single nucleotide variant Likely benign rs534165083 GRCh38 Chromosome 9, 133568420: 133568420
35 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.2313A> G (p.Val771=) single nucleotide variant Benign rs1064975 GRCh37 Chromosome 9, 136434598: 136434598
36 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.2313A> G (p.Val771=) single nucleotide variant Benign rs1064975 GRCh38 Chromosome 9, 133569476: 133569476
37 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.493G> A (p.Ala165Thr) single nucleotide variant Uncertain significance rs764516811 GRCh37 Chromosome 9, 136405800: 136405800
38 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.493G> A (p.Ala165Thr) single nucleotide variant Uncertain significance rs764516811 GRCh38 Chromosome 9, 133540678: 133540678
39 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.499G> A (p.Asp167Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 136405806: 136405806
40 ADAMTSL2 NM_001145320.1(ADAMTSL2): c.499G> A (p.Asp167Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 133540684: 133540684

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

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