MCID: GRD006
MIFTS: 26

Geroderma Osteodysplastica

Categories: Rare diseases, Skin diseases, Bone diseases

Aliases & Classifications for Geroderma Osteodysplastica

MalaCards integrated aliases for Geroderma Osteodysplastica:

Name: Geroderma Osteodysplastica 53 29 6 40 73
Geroderma Osteodysplasticum 53
Gerodermia Osteodysplastica 53
Walt Disney Dwarfism 53
Go 53

Classifications:



Summaries for Geroderma Osteodysplastica

NIH Rare Diseases : 53 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 aging. An important gene associated with Geroderma Osteodysplastica is GORAB (Golgin, RAB6 Interacting). Affiliated tissues include skin, and related phenotypes are malar flattening and mandibular prognathia

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 11.4
2 aging 10.2
3 autosomal recessive cutis laxa type iii 10.2
4 ehlers-danlos syndrome 10.2
5 type i 10.2

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:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 occasional (7.5%) HP:0000272
2 mandibular prognathia 32 occasional (7.5%) HP:0000303
3 microcornea 32 occasional (7.5%) HP:0000482
4 abnormality of vision 32 occasional (7.5%) HP:0000504
5 pectus carinatum 32 occasional (7.5%) HP:0000768
6 platyspondyly 32 occasional (7.5%) HP:0000926
7 osteoporosis 32 hallmark (90%) HP:0000939
8 thin skin 32 hallmark (90%) HP:0000963
9 hyperextensible skin 32 hallmark (90%) HP:0000974
10 muscular hypotonia 32 frequent (33%) HP:0001252
11 intellectual disability, mild 32 occasional (7.5%) HP:0001256
12 global developmental delay 32 occasional (7.5%) HP:0001263
13 redundant skin 32 hallmark (90%) HP:0001582
14 pes planus 32 occasional (7.5%) HP:0001763
15 talipes 32 occasional (7.5%) HP:0001883
16 scoliosis 32 frequent (33%) HP:0002650
17 recurrent fractures 32 hallmark (90%) HP:0002757
18 hip dislocation 32 frequent (33%) HP:0002827
19 vertebral compression fractures 32 hallmark (90%) HP:0002953
20 severe short stature 32 hallmark (90%) HP:0003510
21 beaking of vertebral bodies 32 hallmark (90%) HP:0004568
22 biconcave vertebral bodies 32 hallmark (90%) HP:0004586
23 joint hyperflexibility 32 hallmark (90%) HP:0005692
24 abnormality of epiphysis morphology 32 occasional (7.5%) HP:0005930
25 prematurely aged appearance 32 occasional (7.5%) HP:0007495
26 hernia 32 occasional (7.5%) HP:0100790

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 29 GORAB

Anatomical Context for Geroderma Osteodysplastica

MalaCards organs/tissues related to Geroderma Osteodysplastica:

41
Skin

Publications for Geroderma Osteodysplastica

Articles related to Geroderma Osteodysplastica:

# Title Authors Year
1
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. ( 28807865 )
2017
2
A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. ( 19681135 )
2009
3
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. ( 19006212 )
2008
4
Photo essay--geroderma osteodysplastica. ( 17640054 )
2007
5
Geroderma osteodysplastica. Report of a new family. ( 17014644 )
2006
6
Altered response to stimuli of the AP-1/DNA binding activity in a syndrome of precocious ageing (geroderma osteodysplastica hereditaria). ( 9541137 )
1998
7
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. ( 9643297 )
1998
8
Is geroderma osteodysplastica underdiagnosed? ( 3236370 )
1988
9
Geroderma osteodysplastica hereditaria (GOH) in a girl. ( 7163276 )
1982
10
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 89)
# 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.188T> G (p.Leu63Arg) single nucleotide variant Uncertain significance rs781535204 GRCh37 Chromosome 1, 170508402: 170508402
15 GORAB NM_152281.2(GORAB): c.188T> G (p.Leu63Arg) single nucleotide variant Uncertain significance rs781535204 GRCh38 Chromosome 1, 170539261: 170539261
16 GORAB NM_152281.2(GORAB): c.263A> G (p.Glu88Gly) single nucleotide variant Uncertain significance rs200333798 GRCh37 Chromosome 1, 170508477: 170508477
17 GORAB NM_152281.2(GORAB): c.263A> G (p.Glu88Gly) single nucleotide variant Uncertain significance rs200333798 GRCh38 Chromosome 1, 170539336: 170539336
18 GORAB NM_152281.2(GORAB): c.357C> G (p.Pro119=) single nucleotide variant Uncertain significance rs767686838 GRCh37 Chromosome 1, 170508571: 170508571
19 GORAB NM_152281.2(GORAB): c.357C> G (p.Pro119=) single nucleotide variant Uncertain significance rs767686838 GRCh38 Chromosome 1, 170539430: 170539430
20 GORAB NM_152281.2(GORAB): c.635G> A (p.Arg212Gln) single nucleotide variant Uncertain significance rs190557815 GRCh37 Chromosome 1, 170513884: 170513884
21 GORAB NM_152281.2(GORAB): c.635G> A (p.Arg212Gln) single nucleotide variant Uncertain significance rs190557815 GRCh38 Chromosome 1, 170544743: 170544743
22 GORAB NM_152281.2(GORAB): c.*349G> A single nucleotide variant Uncertain significance rs886045554 GRCh37 Chromosome 1, 170521952: 170521952
23 GORAB NM_152281.2(GORAB): c.*349G> A single nucleotide variant Uncertain significance rs886045554 GRCh38 Chromosome 1, 170552811: 170552811
24 GORAB NM_152281.2(GORAB): c.*818A> G single nucleotide variant Uncertain significance rs886045558 GRCh37 Chromosome 1, 170522421: 170522421
25 GORAB NM_152281.2(GORAB): c.*818A> G single nucleotide variant Uncertain significance rs886045558 GRCh38 Chromosome 1, 170553280: 170553280
26 GORAB NM_152281.2(GORAB): c.*1063T> A single nucleotide variant Uncertain significance rs577629045 GRCh37 Chromosome 1, 170522666: 170522666
27 GORAB NM_152281.2(GORAB): c.*1063T> A single nucleotide variant Uncertain significance rs577629045 GRCh38 Chromosome 1, 170553525: 170553525
28 GORAB NM_152281.2(GORAB): c.*1160G> A single nucleotide variant Uncertain significance rs550890680 GRCh37 Chromosome 1, 170522763: 170522763
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.*1065A> T single nucleotide variant Likely benign rs12063774 GRCh38 Chromosome 1, 170553527: 170553527
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.*1127T> G single nucleotide variant Uncertain significance rs542501839 GRCh38 Chromosome 1, 170553589: 170553589
33 GORAB NM_152281.2(GORAB): c.*1160G> A single nucleotide variant Uncertain significance rs550890680 GRCh38 Chromosome 1, 170553622: 170553622
34 GORAB NM_152281.2(GORAB): c.*1298T> C single nucleotide variant Uncertain significance rs185248405 GRCh37 Chromosome 1, 170522901: 170522901
35 GORAB NM_152281.2(GORAB): c.*1298T> C single nucleotide variant Uncertain significance rs185248405 GRCh38 Chromosome 1, 170553760: 170553760
36 GORAB NM_152281.2(GORAB): c.732C> T (p.Tyr244=) single nucleotide variant Likely benign rs76365864 GRCh38 Chromosome 1, 170544840: 170544840
37 GORAB NM_152281.2(GORAB): c.*598A> G single nucleotide variant Uncertain significance rs886045555 GRCh38 Chromosome 1, 170553060: 170553060
38 GORAB NM_152281.2(GORAB): c.*653T> C single nucleotide variant Uncertain significance rs886045556 GRCh37 Chromosome 1, 170522256: 170522256
39 GORAB NM_152281.2(GORAB): c.732C> T (p.Tyr244=) single nucleotide variant Likely benign rs76365864 GRCh37 Chromosome 1, 170513981: 170513981
40 GORAB NM_152281.2(GORAB): c.99C> G (p.Phe33Leu) single nucleotide variant Uncertain significance rs151006839 GRCh37 Chromosome 1, 170501388: 170501388
41 GORAB NM_152281.2(GORAB): c.99C> G (p.Phe33Leu) single nucleotide variant Uncertain significance rs151006839 GRCh38 Chromosome 1, 170532247: 170532247
42 GORAB NM_152281.2(GORAB): c.349A> G (p.Thr117Ala) single nucleotide variant Uncertain significance rs759352018 GRCh37 Chromosome 1, 170508563: 170508563
43 GORAB NM_152281.2(GORAB): c.349A> G (p.Thr117Ala) single nucleotide variant Uncertain significance rs759352018 GRCh38 Chromosome 1, 170539422: 170539422
44 GORAB NM_152281.2(GORAB): c.597-9A> T single nucleotide variant Uncertain significance rs185701616 GRCh37 Chromosome 1, 170513837: 170513837
45 GORAB NM_152281.2(GORAB): c.597-9A> T single nucleotide variant Uncertain significance rs185701616 GRCh38 Chromosome 1, 170544696: 170544696
46 GORAB NM_152281.2(GORAB): c.*102G> A single nucleotide variant Uncertain significance rs555373548 GRCh37 Chromosome 1, 170521705: 170521705
47 GORAB NM_152281.2(GORAB): c.*102G> A single nucleotide variant Uncertain significance rs555373548 GRCh38 Chromosome 1, 170552564: 170552564
48 GORAB NM_152281.2(GORAB): c.*598A> G single nucleotide variant Uncertain significance rs886045555 GRCh37 Chromosome 1, 170522201: 170522201
49 GORAB NM_152281.2(GORAB): c.*653T> C single nucleotide variant Uncertain significance rs886045556 GRCh38 Chromosome 1, 170553115: 170553115
50 GORAB NM_152281.2(GORAB): c.*771A> T single nucleotide variant Uncertain significance rs886045557 GRCh37 Chromosome 1, 170522374: 170522374

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....