MCID: GRD006
MIFTS: 22

Geroderma Osteodysplastica

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Geroderma Osteodysplastica

MalaCards integrated aliases for Geroderma Osteodysplastica:

Name: Geroderma Osteodysplastica 54 30 6 41 74
Geroderma Osteodysplasticum 54
Gerodermia Osteodysplastica 54
Walt Disney Dwarfism 54
Go 54

Classifications:



Summaries for Geroderma Osteodysplastica

NIH Rare Diseases : 54 Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a variable degree of growth deficiency. This condition is caused by mutations in the GORAB gene.

MalaCards based summary : Geroderma Osteodysplastica, also known as geroderma osteodysplasticum, is related to geroderma osteodysplasticum and cutis laxa, autosomal dominant 1. An important gene associated with Geroderma Osteodysplastica is GORAB (Golgin, RAB6 Interacting). Affiliated tissues include skin and bone, and related phenotypes are beaking of vertebral bodies and osteoporosis

Related Diseases for Geroderma Osteodysplastica

Diseases related to Geroderma Osteodysplastica via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 geroderma osteodysplasticum 11.6
2 cutis laxa, autosomal dominant 1 11.4
3 autosomal recessive cutis laxa type i 11.4
4 wrinkly skin syndrome 10.4
5 cutis laxa, autosomal recessive, type iib 10.4
6 cutis laxa 10.4
7 cutis laxa, autosomal dominant 3 10.4
8 autosomal recessive cutis laxa type iii 10.4
9 ehlers-danlos syndrome 10.4

Graphical network of the top 20 diseases related to Geroderma Osteodysplastica:



Diseases related to Geroderma Osteodysplastica

Symptoms & Phenotypes for Geroderma Osteodysplastica

Human phenotypes related to Geroderma Osteodysplastica:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 beaking of vertebral bodies 33 hallmark (90%) HP:0004568
2 osteoporosis 33 hallmark (90%) HP:0000939
3 joint hyperflexibility 33 hallmark (90%) HP:0005692
4 thin skin 33 hallmark (90%) HP:0000963
5 recurrent fractures 33 hallmark (90%) HP:0002757
6 severe short stature 33 hallmark (90%) HP:0003510
7 redundant skin 33 hallmark (90%) HP:0001582
8 hyperextensible skin 33 hallmark (90%) HP:0000974
9 biconcave vertebral bodies 33 hallmark (90%) HP:0004586
10 vertebral compression fractures 33 hallmark (90%) HP:0002953
11 muscular hypotonia 33 frequent (33%) HP:0001252
12 scoliosis 33 frequent (33%) HP:0002650
13 hip dislocation 33 frequent (33%) HP:0002827
14 malar flattening 33 occasional (7.5%) HP:0000272
15 abnormality of epiphysis morphology 33 occasional (7.5%) HP:0005930
16 mandibular prognathia 33 occasional (7.5%) HP:0000303
17 global developmental delay 33 occasional (7.5%) HP:0001263
18 pectus carinatum 33 occasional (7.5%) HP:0000768
19 pes planus 33 occasional (7.5%) HP:0001763
20 intellectual disability, mild 33 occasional (7.5%) HP:0001256
21 abnormality of vision 33 occasional (7.5%) HP:0000504
22 hernia 33 occasional (7.5%) HP:0100790
23 platyspondyly 33 occasional (7.5%) HP:0000926
24 prematurely aged appearance 33 occasional (7.5%) HP:0007495
25 microcornea 33 occasional (7.5%) HP:0000482
26 talipes 33 occasional (7.5%) HP:0001883

Drugs & Therapeutics for Geroderma Osteodysplastica

Search Clinical Trials , NIH Clinical Center for Geroderma Osteodysplastica

Genetic Tests for Geroderma Osteodysplastica

Genetic tests related to Geroderma Osteodysplastica:

# Genetic test Affiliating Genes
1 Geroderma Osteodysplastica 30 GORAB

Anatomical Context for Geroderma Osteodysplastica

MalaCards organs/tissues related to Geroderma Osteodysplastica:

42
Skin, Bone

Publications for Geroderma Osteodysplastica

Articles related to Geroderma Osteodysplastica:

(show all 15)
# Title Authors Year
1
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis. ( 29424602 )
2018
2
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. ( 28807865 )
2017
3
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. ( 21204221 )
2011
4
A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. ( 19681135 )
2009
5
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. ( 18348262 )
2008
6
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. ( 19006212 )
2008
7
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. ( 18997784 )
2008
8
Photo essay--geroderma osteodysplastica. ( 17640054 )
2007
9
Geroderma osteodysplastica. Report of a new family. ( 17014644 )
2006
10
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. ( 9643297 )
1998
11
Altered response to stimuli of the AP-1/DNA binding activity in a syndrome of precocious ageing (geroderma osteodysplastica hereditaria). ( 9541137 )
1998
12
Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding? ( 8723088 )
1996
13
Is geroderma osteodysplastica underdiagnosed? ( 3236370 )
1988
14
Geroderma osteodysplastica hereditaria (GOH) in a girl. ( 7163276 )
1982
15
Geroderma osteodysplastica. A report of two affected families. ( 631850 )
1978

Variations for Geroderma Osteodysplastica

ClinVar genetic disease variations for Geroderma Osteodysplastica:

6 (show top 50) (show all 91)
# Gene Variation Type Significance SNP ID Assembly Location
1 GORAB NM_152281.2(GORAB): c.442G> T (p.Glu148Ter) single nucleotide variant Pathogenic rs119455951 GRCh37 Chromosome 1, 170508656: 170508656
2 GORAB NM_152281.2(GORAB): c.442G> T (p.Glu148Ter) single nucleotide variant Pathogenic rs119455951 GRCh38 Chromosome 1, 170539515: 170539515
3 GORAB GORAB, 2-BP DEL/2-BP INS, NT-1 indel Pathogenic
4 GORAB NM_152281.2(GORAB): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic rs119455952 GRCh37 Chromosome 1, 170521277: 170521277
5 GORAB NM_152281.2(GORAB): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic rs119455952 GRCh38 Chromosome 1, 170552136: 170552136
6 GORAB GORAB, IVS4, G-C, +5 single nucleotide variant Pathogenic
7 GORAB GORAB, 1-BP DEL, 257C deletion Pathogenic
8 GORAB NM_152281.2(GORAB): c.733G> C (p.Ala245Pro) single nucleotide variant Pathogenic rs183596463 GRCh37 Chromosome 1, 170513982: 170513982
9 GORAB NM_152281.2(GORAB): c.733G> C (p.Ala245Pro) single nucleotide variant Pathogenic rs183596463 GRCh38 Chromosome 1, 170544841: 170544841
10 GORAB NM_001146039.1(GORAB): c.483_484delGA (p.Lys162Serfs) deletion Likely pathogenic rs1085307068 GRCh38 Chromosome 1, 170539556: 170539557
11 GORAB NM_001146039.1(GORAB): c.483_484delGA (p.Lys162Serfs) deletion Likely pathogenic rs1085307068 GRCh37 Chromosome 1, 170508697: 170508698
12 GORAB NM_152281.2(GORAB): c.958G> A (p.Glu320Lys) single nucleotide variant Benign rs913257 GRCh38 Chromosome 1, 170552235: 170552235
13 GORAB NM_152281.2(GORAB): c.958G> A (p.Glu320Lys) single nucleotide variant Benign rs913257 GRCh37 Chromosome 1, 170521376: 170521376
14 GORAB NM_152281.2(GORAB): c.*818A> G single nucleotide variant Uncertain significance rs886045558 GRCh38 Chromosome 1, 170553280: 170553280
15 GORAB NM_152281.2(GORAB): c.188T> G (p.Leu63Arg) single nucleotide variant Uncertain significance rs781535204 GRCh37 Chromosome 1, 170508402: 170508402
16 GORAB NM_152281.2(GORAB): c.188T> G (p.Leu63Arg) single nucleotide variant Uncertain significance rs781535204 GRCh38 Chromosome 1, 170539261: 170539261
17 GORAB NM_152281.2(GORAB): c.263A> G (p.Glu88Gly) single nucleotide variant Uncertain significance rs200333798 GRCh37 Chromosome 1, 170508477: 170508477
18 GORAB NM_152281.2(GORAB): c.263A> G (p.Glu88Gly) single nucleotide variant Uncertain significance rs200333798 GRCh38 Chromosome 1, 170539336: 170539336
19 GORAB NM_152281.2(GORAB): c.357C> G (p.Pro119=) single nucleotide variant Uncertain significance rs767686838 GRCh37 Chromosome 1, 170508571: 170508571
20 GORAB NM_152281.2(GORAB): c.357C> G (p.Pro119=) single nucleotide variant Uncertain significance rs767686838 GRCh38 Chromosome 1, 170539430: 170539430
21 GORAB NM_152281.2(GORAB): c.*818A> G single nucleotide variant Uncertain significance rs886045558 GRCh37 Chromosome 1, 170522421: 170522421
22 GORAB NM_152281.2(GORAB): c.635G> A (p.Arg212Gln) single nucleotide variant Uncertain significance rs190557815 GRCh37 Chromosome 1, 170513884: 170513884
23 GORAB NM_152281.2(GORAB): c.635G> A (p.Arg212Gln) single nucleotide variant Uncertain significance rs190557815 GRCh38 Chromosome 1, 170544743: 170544743
24 GORAB NM_152281.2(GORAB): c.*349G> A single nucleotide variant Uncertain significance rs886045554 GRCh38 Chromosome 1, 170552811: 170552811
25 GORAB NM_152281.2(GORAB): c.*349G> A single nucleotide variant Uncertain significance rs886045554 GRCh37 Chromosome 1, 170521952: 170521952
26 GORAB NM_152281.2(GORAB): c.*1063T> A single nucleotide variant Uncertain significance rs577629045 GRCh38 Chromosome 1, 170553525: 170553525
27 GORAB NM_152281.2(GORAB): c.*1063T> A single nucleotide variant Uncertain significance rs577629045 GRCh37 Chromosome 1, 170522666: 170522666
28 GORAB NM_152281.2(GORAB): c.*1065A> T single nucleotide variant Likely benign rs12063774 GRCh38 Chromosome 1, 170553527: 170553527
29 GORAB NM_152281.2(GORAB): c.*1065A> T single nucleotide variant Likely benign rs12063774 GRCh37 Chromosome 1, 170522668: 170522668
30 GORAB NM_152281.2(GORAB): c.*1127T> G single nucleotide variant Uncertain significance rs542501839 GRCh38 Chromosome 1, 170553589: 170553589
31 GORAB NM_152281.2(GORAB): c.*1127T> G single nucleotide variant Uncertain significance rs542501839 GRCh37 Chromosome 1, 170522730: 170522730
32 GORAB NM_152281.2(GORAB): c.*1160G> A single nucleotide variant Uncertain significance rs550890680 GRCh38 Chromosome 1, 170553622: 170553622
33 GORAB NM_152281.2(GORAB): c.*1160G> A single nucleotide variant Uncertain significance rs550890680 GRCh37 Chromosome 1, 170522763: 170522763
34 GORAB NM_152281.2(GORAB): c.*1298T> C single nucleotide variant Uncertain significance rs185248405 GRCh38 Chromosome 1, 170553760: 170553760
35 GORAB NM_152281.2(GORAB): c.*1298T> C single nucleotide variant Uncertain significance rs185248405 GRCh37 Chromosome 1, 170522901: 170522901
36 GORAB NM_152281.2(GORAB): c.*803T> C single nucleotide variant Uncertain significance rs753455699 GRCh37 Chromosome 1, 170522406: 170522406
37 GORAB NM_152281.2(GORAB): c.*1039A> G single nucleotide variant Uncertain significance rs777070030 GRCh38 Chromosome 1, 170553501: 170553501
38 GORAB NM_152281.2(GORAB): c.*1039A> G single nucleotide variant Uncertain significance rs777070030 GRCh37 Chromosome 1, 170522642: 170522642
39 GORAB NM_152281.2(GORAB): c.*1217T> C single nucleotide variant Likely benign rs77280970 GRCh38 Chromosome 1, 170553679: 170553679
40 GORAB NM_152281.2(GORAB): c.*1217T> C single nucleotide variant Likely benign rs77280970 GRCh37 Chromosome 1, 170522820: 170522820
41 GORAB NM_152281.2(GORAB): c.99C> G (p.Phe33Leu) single nucleotide variant Uncertain significance rs151006839 GRCh37 Chromosome 1, 170501388: 170501388
42 GORAB NM_152281.2(GORAB): c.99C> G (p.Phe33Leu) single nucleotide variant Uncertain significance rs151006839 GRCh38 Chromosome 1, 170532247: 170532247
43 GORAB NM_152281.2(GORAB): c.349A> G (p.Thr117Ala) single nucleotide variant Uncertain significance rs759352018 GRCh37 Chromosome 1, 170508563: 170508563
44 GORAB NM_152281.2(GORAB): c.349A> G (p.Thr117Ala) single nucleotide variant Uncertain significance rs759352018 GRCh38 Chromosome 1, 170539422: 170539422
45 GORAB NM_152281.2(GORAB): c.597-9A> T single nucleotide variant Uncertain significance rs185701616 GRCh37 Chromosome 1, 170513837: 170513837
46 GORAB NM_152281.2(GORAB): c.597-9A> T single nucleotide variant Uncertain significance rs185701616 GRCh38 Chromosome 1, 170544696: 170544696
47 GORAB NM_152281.2(GORAB): c.732C> T (p.Tyr244=) single nucleotide variant Likely benign rs76365864 GRCh38 Chromosome 1, 170544840: 170544840
48 GORAB NM_152281.2(GORAB): c.732C> T (p.Tyr244=) single nucleotide variant Likely benign rs76365864 GRCh37 Chromosome 1, 170513981: 170513981
49 GORAB NM_152281.2(GORAB): c.*102G> A single nucleotide variant Uncertain significance rs555373548 GRCh38 Chromosome 1, 170552564: 170552564
50 GORAB NM_152281.2(GORAB): c.*102G> A single nucleotide variant Uncertain significance rs555373548 GRCh37 Chromosome 1, 170521705: 170521705

Expression for Geroderma Osteodysplastica

Search GEO for disease gene expression data for Geroderma Osteodysplastica.

Pathways for Geroderma Osteodysplastica

GO Terms for Geroderma Osteodysplastica

Sources for Geroderma Osteodysplastica

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