MCID: GLP003
MIFTS: 33

Geleophysic Dysplasia 1

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

Aliases & Classifications for Geleophysic Dysplasia 1

MalaCards integrated aliases for Geleophysic Dysplasia 1:

Name: Geleophysic Dysplasia 1 57 75 29 13 6 73
Gphysd1 57 75
Geleophysic Dysplasia 73
Geleophysic Dwarfism 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
geleophysic dysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Geleophysic Dysplasia 1

OMIM : 57 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 : 75 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 12.2
2 geleophysic dysplasia 11.2
3 geleophysic dysplasia 2 11.1
4 chromosome 8q22.1 duplication syndrome 11.0
5 dwarfism 10.0

Graphical network of the top 20 diseases related to Geleophysic Dysplasia 1:



Diseases related to Geleophysic Dysplasia 1

Symptoms & Phenotypes for Geleophysic Dysplasia 1

Symptoms via clinical synopsis from OMIM:

57
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
finger contractures
wrist 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

Human phenotypes related to Geleophysic Dysplasia 1:

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

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:

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

Publications for Geleophysic Dysplasia 1

Articles related to Geleophysic Dysplasia 1:

(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 1

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

75 (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
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 38)
# 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 GRCh37 Chromosome 9, 136412346: 136412346
26 ADAMTSL2 NM_014694.3(ADAMTSL2): c.939+11C> T single nucleotide variant Benign rs2073878 GRCh38 Chromosome 9, 133547224: 133547224
27 ADAMTSL2 NM_014694.3(ADAMTSL2): c.1641C> T (p.His547=) single nucleotide variant Uncertain significance rs7868941 GRCh37 Chromosome 9, 136421044: 136421044
28 ADAMTSL2 NM_014694.3(ADAMTSL2): c.1641C> T (p.His547=) single nucleotide variant Uncertain significance rs7868941 GRCh38 Chromosome 9, 133555922: 133555922
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

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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