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GO
MCID: GRD005
MIFTS: 50

Geroderma Osteodysplasticum (GO)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Geroderma Osteodysplasticum

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MalaCards integrated aliases for Geroderma Osteodysplasticum:

Name: Geroderma Osteodysplasticum 57 11 19 73 12 14 38 75
Gerodermia Osteodysplastica 57 11 19 75 73 43
Geroderma Osteodysplastica 11 19 58 28 5 71
Walt Disney Dwarfism 57 11 19 73
Go 57 11 19 73
Type of Gerodermia Osteodysplastica 5

Characteristics:


Inheritance:

Geroderma Osteodysplasticum: Autosomal recessive 57
Geroderma Osteodysplastica: Autosomal recessive 58

Prevelance:

Geroderma Osteodysplastica: <1/1000000 (Worldwide) 58

Age Of Onset:

Geroderma Osteodysplastica: Neonatal 58

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Skin diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Geroderma Osteodysplasticum

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GARD: 19 Geroderma osteodysplastica is a rare disease characterized by lax, wrinkled skin, loose joints, and a typical face with a prematurely aged appearance. Bone problems may include severe osteoporosis leading to frequent fractures, underdeveloped cheekbones and jaw (malar and mandibular hypoplasia), and a variable degree of growth deficiency. This condition is caused by genetic changes in the GORAB gene. Inheritance is autosomal recessive.

MalaCards based summary: Geroderma Osteodysplasticum, also known as gerodermia osteodysplastica, is related to cutis laxa, autosomal dominant 1 and cutis laxa, autosomal dominant 3. An important gene associated with Geroderma Osteodysplasticum is GORAB (Golgin, RAB6 Interacting), and among its related pathways/superpathways are Golgi-to-ER retrograde transport and Vesicle-mediated transport. Affiliated tissues include skin, bone and eye, and related phenotypes are beaking of vertebral bodies and osteoporosis

OMIM®: 57 Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged (summary by Rajab et al., 2008). (231070) (Updated 08-Dec-2022)

Disease Ontology: 11 A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has material basis in homozygous or compound heterozygous mutation in GORAB on 1q24.2.

Orphanet: 58 Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

UniProtKB/Swiss-Prot: 73 A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.

Wikipedia: 75 Gerodermia osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder included in... more...
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Related Diseases for Geroderma Osteodysplasticum

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal dominant 1 32.0 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
2 cutis laxa, autosomal dominant 3 30.6 PYCR1 ATP6V1E1 ALDH18A1
3 congenital disorder of glycosylation, type in 30.6 GORAB GOLPH3 COG7 ATP6V0A2
4 cutis laxa, autosomal recessive, type ia 30.5 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
5 ehlers-danlos syndrome 30.5 MIA2 FBLN5 EFEMP2 B3GAT3
6 wrinkly skin syndrome 30.4 PYCR1 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
7 cutis laxa, autosomal recessive, type iiia 30.4 RIN2 PYCR1 LTBP4 GORAB ATP6V0A2 ALDH18A1
8 immunodeficiency 47 30.4 PYCR1 COG7 ATP6V1E1 ATP6V0A2 ALDH18A1
9 cutis laxa 30.3 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
10 cutis laxa, autosomal recessive, type iib 30.3 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
11 autosomal recessive cutis laxa type iii 30.2 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
12 autosomal recessive cutis laxa type i 30.1 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5
13 cutis laxa, autosomal recessive, type iia 29.8 RIN2 RAB6A PYCR1 MIA2 LTBP4 GORAB
14 connective tissue disease 10.4
15 fbln5-related cutis laxa 10.4
16 ureteric orifice cancer 10.3 FBLN5 EFEMP2
17 cutis laxa, autosomal dominant 2 10.3 FBLN5 EFEMP2
18 leukodystrophy, hypomyelinating, 10 10.3 PYCR1 ALDH18A1
19 achondrogenesis 10.3 TRIP11 MIA2 GORAB
20 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 10.3 MIA2 B3GAT3
21 ehlers-danlos syndrome, vascular type 10.2 FBLN5 EFEMP2
22 bladder diverticulum 10.2 LTBP4 FBLN5 EFEMP2
23 macs syndrome 10.2 RIN2 FBLN5
24 arterial tortuosity syndrome 10.2 LTBP4 FBLN5 EFEMP2
25 supravalvular aortic stenosis 10.2 LTBP4 FBLN5 EFEMP2
26 loeys-dietz syndrome 10.2 LTBP4 FBLN5 EFEMP2
27 bone mineral density quantitative trait locus 16 10.2
28 hypercementosis 10.2
29 atp6v0a2-related cutis laxa 10.2
30 premature aging 10.2
31 craniolenticulosutural dysplasia 10.2 MIA2 GOLPH3
32 contractural arachnodactyly, congenital 10.2
33 hypertelorism 10.2
34 cutis laxa, autosomal recessive, type iie 10.2
35 scoliosis 10.2
36 oto-palatal-digital syndrome 10.2
37 retinal drusen 10.2 FBLN5 EFEMP2
38 brittle bone disorder 10.2
39 bone mineral density quantitative trait locus 3 10.2
40 spinal stenosis 10.2
41 cataract 10.2
42 diaphragmatic hernia, congenital 10.2 LTBP4 EFEMP2 B3GAT3
43 spondyloepiphyseal dysplasia tarda, x-linked 10.2 TRIP11 MIA2 GORAB GOLPH3
44 anemia, congenital dyserythropoietic, type ii 10.1 MIA2 GOLPH3
45 cutis laxa, autosomal recessive, type iid 10.1 RIN2 GORAB ATP6V1E1 ATP6V0A2 ALDH18A1
46 inguinal hernia 10.1 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V0A2
47 dyggve-melchior-clausen disease 10.1 TRIP11 GOLPH3
48 cutis laxa, autosomal recessive, type iiib 10.0 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
49 cutis laxa, autosomal recessive, type ic 10.0 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2
50 cutis laxa, autosomal recessive, type ib 10.0 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2

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



Diseases related to Geroderma Osteodysplasticum
Sources

Symptoms & Phenotypes for Geroderma Osteodysplasticum

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Human phenotypes related to Geroderma Osteodysplasticum:

58 30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 beaking of vertebral bodies 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0004568
2 osteoporosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000939
3 recurrent fractures 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0002757
4 joint hyperflexibility 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005692
5 redundant skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001582
6 hyperextensible skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000974
7 severe short stature 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003510
8 biconcave vertebral bodies 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0004586
9 thin skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000963
10 vertebral compression fracture 30 Hallmark (90%) HP:0002953
11 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002650
12 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001252
13 hip dislocation 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002827
14 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001263
15 mandibular prognathia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000303
16 pectus carinatum 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000768
17 pes planus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001763
18 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001256
19 hernia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100790
20 prematurely aged appearance 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007495
21 abnormality of vision 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000504
22 talipes 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001883
23 platyspondyly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000926
24 malar flattening 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000272
25 microcornea 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000482
26 abnormal epiphysis morphology 30 Occasional (7.5%) HP:0005930
27 intellectual disability 30 Very rare (1%) HP:0001249
28 osteopenia 30 Very rare (1%) HP:0000938
29 delayed speech and language development 30 Very rare (1%) HP:0000750
30 microcephaly 30 Very rare (1%) HP:0000252
31 deeply set eye 30 Very rare (1%) HP:0000490
32 hypoplasia of the maxilla 30 Very rare (1%) HP:0000327
33 recurrent lower respiratory tract infections 30 Very rare (1%) HP:0002783
34 hyperextensibility of the finger joints 30 Very rare (1%) HP:0001187
35 neonatal wrinkled skin of hands and feet 30 Very rare (1%) HP:0007414
36 abnormal form of the vertebral bodies 58 Very frequent (99-80%)
37 growth delay 58 Frequent (79-30%)
38 kyphoscoliosis 30 HP:0002751
39 abnormality of the eye 58 Occasional (29-5%)
40 periodontitis 30 HP:0000704
41 abnormality of epiphysis morphology 58 Occasional (29-5%)
42 femoral bowing 30 HP:0002980
43 cutis laxa 30 HP:0000973
44 vertebral compression fractures 58 Very frequent (99-80%)
45 tibial bowing 30 HP:0002982
46 camptodactyly 30 HP:0012385
47 abnormal bone ossification 58 Very frequent (99-80%)
48 irregular vertebral endplates 30 HP:0003301
49 progeroid facial appearance 30 HP:0005328

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal:
osteopenia
frequent fractures

Skeletal Hands:
camptodactyly
hyperextensible fingers

Skeletal Spine:
vertebral collapse
progressive kyphoscoliosis
platyspondyly (in adults)
irregular endplates (in adults)

Skin Nails Hair Hair:
normal hair

Head And Neck Teeth:
normal teeth

Skeletal Limbs:
bowed tibia
bowed femur

Laboratory Abnormalities:
normal isoelectric focusing of serum transferrin

Head And Neck Head:
microcephaly
normal fontanels

Head And Neck Face:
maxillary hypoplasia
premature aged appearance
'droopy' face
relative prognathism

Neurologic Central Nervous System:
mental retardation
speech delay

Head And Neck Eyes:
deep-set eyes

Head And Neck Mouth:
periodontal disease

Skin Nails Hair Skin:
skin wrinkling (limited to dorsum of hands and feet and abdomen)

Clinical features from OMIM®:

231070 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Geroderma Osteodysplasticum according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 ALDH18A1 ARF5 ATP6V0A2 ATP6V1E1 B3GAT3 COG7
2 no effect GR00402-S-2 10.14 ARF5 ATP6V1E1 B3GAT3 COG7 COPB2 GOLPH3

MGI Mouse Phenotypes related to Geroderma Osteodysplasticum:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.47 ALDH18A1 ATP6V1E1 B3GAT3 COG7 COPB2 EFEMP2
Sources

Drugs & Therapeutics for Geroderma Osteodysplasticum

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Search Clinical Trials, NIH Clinical Center for Geroderma Osteodysplasticum

Cochrane evidence based reviews: gerodermia osteodysplastica

Sources

Genetic Tests for Geroderma Osteodysplasticum

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Genetic tests related to Geroderma Osteodysplasticum:

# Genetic test Affiliating Genes
1 Geroderma Osteodysplastica 28 GORAB
Sources

Anatomical Context for Geroderma Osteodysplasticum

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Organs/tissues related to Geroderma Osteodysplasticum:

MalaCards : Skin, Bone, Eye
Sources

Publications for Geroderma Osteodysplasticum

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Articles related to Geroderma Osteodysplasticum:

(show all 44)
# Title Authors PMID Year
1
A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. 62 57 5
19681135 2009
2
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 62 57 5
18997784 2008
3
Geroderma osteodysplastica. A report of two affected families. 62 57 5
631850 1978
4
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 62 57
19006212 2008
5
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. 62 57
18348262 2008
6
Gerodermia osteodysplastica in a Bedouin sibship: further delineation of the syndrome. 62 57
9018419 1997
7
Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding? 62 57
8723088 1996
8
Gerodermia osteodysplastica: report on two patients and surgical correction of facial deformity. 62 57
8213917 1993
9
Is geroderma osteodysplastica underdiagnosed? 62 57
3236370 1988
10
Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review. 62 57
474638 1979
11
Mutations in PYCR1 cause cutis laxa with progeroid features. 57
19648921 2009
12
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 5
18157129 2008
13
Congenital cutis laxa with retardation of growth and development. 57
3669050 1987
14
Congenital cutis laxa and osteoporosis. 57
6846273 1983
15
[Osteodysplasic geroderma of sex-linked heredity, a new clinical and genetic entity]. 57
4980119 1969
16
[A sex-linked disorder: hereditary osteodysplastic geroderma (20 years of observation)]. 57
5730495 1968
17
A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings. 62
35707774 2022
18
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. 62
31438591 2019
19
GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation. 62
30631079 2019
20
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis. 62
29424602 2018
21
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. 62
29561836 2018
22
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. 62
28807865 2017
23
Examining tissue composition, whole-bone morphology and mechanical behavior of GorabPrx1 mice tibiae: A mouse model of premature aging. 62
29108851 2017
24
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. 62
28409271 2017
25
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. 62
28294978 2017
26
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. 62
27604556 2017
27
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. 62
26000619 2015
28
The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity. 62
26538727 2015
29
Transcriptional profiling and dynamical regulation analysis identify potential kernel target genes of SCYL1-BP1 in HEK293T cells. 62
25234469 2014
30
Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism. 62
23954411 2014
31
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 62
24035636 2013
32
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). 62
21739576 2011
33
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. 62
21204221 2011
34
Decreased bone density and treatment in patients with autosomal recessive cutis laxa. 62
19055655 2009
35
Pregnancy in a gerodermia osteodysplastica patient: a case report. 62
18166294 2008
36
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. 62
18304158 2008
37
Photo essay--geroderma osteodysplastica. 62
17640054 2007
38
Geroderma osteodysplastica. Report of a new family. 62
17014644 2006
39
Gerodermia Osteodysplastica. 62
15630332 2004
40
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? 62
11424136 2001
41
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. 62
9643297 1998
42
Altered response to stimuli of the AP-1/DNA binding activity in a syndrome of precocious ageing (geroderma osteodysplastica hereditaria). 62
9541137 1998
43
Geroderma osteodysplastica hereditaria (GOH) in a girl. 62
7163276 1982
44
[Radiographic findings in geroderma osteodysplastica hereditaria]. 62
5692663 1968
Sources

Variations for Geroderma Osteodysplasticum

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ClinVar genetic disease variations for Geroderma Osteodysplasticum:

5 (show top 50) (show all 81)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GORAB NM_152281.3(GORAB):c.367G>T (p.Glu123Ter) SNV Pathogenic
 2650 rs119455951 GRCh37: 1:170508656-170508656
GRCh38: 1:170539515-170539515
2 GORAB NM_152281.3(GORAB):c.784C>T (p.Arg262Ter) SNV Pathogenic
 2652 rs119455952 GRCh37: 1:170521277-170521277
GRCh38: 1:170552136-170552136
3 GORAB NM_152281.3(GORAB):c.662+5G>C SNV Pathogenic
 2653 rs1330106644 GRCh37: 1:170513991-170513991
GRCh38: 1:170544850-170544850
4 GORAB NM_152281.3(GORAB):c.658G>C (p.Ala220Pro) SNV Pathogenic
 218115 rs183596463 GRCh37: 1:170513982-170513982
GRCh38: 1:170544841-170544841
5 GORAB NM_152281.3(GORAB):c.231dup (p.Pro78fs) DUP Pathogenic
 800784 rs1571243797 GRCh37: 1:170508515-170508516
GRCh38: 1:170539374-170539375
6 GORAB NM_152281.3(GORAB):c.420-2A>G SNV Pathogenic
 1323029 GRCh37: 1:170511630-170511630
GRCh38: 1:170542489-170542489
7 GORAB GORAB, 1-BP DEL, 257C DEL Pathogenic
 2654 GRCh37:
GRCh38:
8 ATP6V0A2 NM_012463.4(ATP6V0A2):c.294+1G>A SNV Pathogenic
 21499 rs80356751 GRCh37: 12:124206996-124206996
GRCh38: 12:123722449-123722449
9 GORAB, GORAB-AS1 NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?)) INDEL Pathogenic/Likely Pathogenic
 623306 rs1557999318 GRCh37: 1:170501289-170501290
GRCh38: 1:170532148-170532149
10 GORAB NM_152281.3(GORAB):c.408_409del (p.Lys137fs) DEL Likely Pathogenic
 225381 rs1085307068 GRCh37: 1:170508696-170508697
GRCh38: 1:170539555-170539556
11 GORAB-AS1, GORAB NM_152281.3(GORAB):c.5del (p.Ala2fs) DEL Likely Pathogenic
 804379 rs1571232872 GRCh37: 1:170501369-170501369
GRCh38: 1:170532228-170532228
12 GORAB NM_152281.3(GORAB):c.596T>G (p.Val199Gly) SNV Uncertain Significance
 816877 rs764819857 GRCh37: 1:170513920-170513920
GRCh38: 1:170544779-170544779
13 GORAB NM_152281.3(GORAB):c.*998A>G SNV Uncertain Significance
 873977 rs1364927513 GRCh37: 1:170522601-170522601
GRCh38: 1:170553460-170553460
14 GORAB NM_152281.3(GORAB):c.625C>T (p.Arg209Trp) SNV Uncertain Significance
 288166 rs138502097 GRCh37: 1:170513949-170513949
GRCh38: 1:170544808-170544808
15 GORAB NM_152281.3(GORAB):c.*1305T>C SNV Uncertain Significance
 874914 rs1330502353 GRCh37: 1:170522908-170522908
GRCh38: 1:170553767-170553767
16 GORAB NM_152281.3(GORAB):c.*404A>G SNV Uncertain Significance
 875796 rs1308965013 GRCh37: 1:170522007-170522007
GRCh38: 1:170552866-170552866
17 GORAB-AS1, GORAB NM_152281.3(GORAB):c.-57T>C SNV Uncertain Significance
 876745 rs188031069 GRCh37: 1:170501308-170501308
GRCh38: 1:170532167-170532167
18 GORAB-AS1, GORAB NM_152281.3(GORAB):c.61+13G>T SNV Uncertain Significance
 876747 rs202005173 GRCh37: 1:170501438-170501438
GRCh38: 1:170532297-170532297
19 GORAB NM_152281.3(GORAB):c.82C>T (p.Arg28Cys) SNV Uncertain Significance
 876748 rs761243601 GRCh37: 1:170508371-170508371
GRCh38: 1:170539230-170539230
20 GORAB-AS1, GORAB NM_152281.3(GORAB):c.61G>T (p.Asp21Tyr) SNV Uncertain Significance
 931046 rs1648727549 GRCh37: 1:170501425-170501425
GRCh38: 1:170532284-170532284
21 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp) SNV Uncertain Significance
 982811 rs780465961 GRCh37: 12:124239014-124239014
GRCh38: 12:123754467-123754467
22 GORAB NM_152281.3(GORAB):c.785G>A (p.Arg262Gln) SNV Uncertain Significance
 1032478 rs145193965 GRCh37: 1:170521278-170521278
GRCh38: 1:170552137-170552137
23 GORAB NM_152281.3(GORAB):c.113T>G (p.Leu38Arg) SNV Uncertain Significance
 293650 rs781535204 GRCh37: 1:170508402-170508402
GRCh38: 1:170539261-170539261
24 GORAB NM_152281.3(GORAB):c.*944A>G SNV Uncertain Significance
 293675 rs371932538 GRCh37: 1:170522547-170522547
GRCh38: 1:170553406-170553406
25 GORAB NM_152281.3(GORAB):c.*818A>G SNV Uncertain Significance
 293672 rs886045558 GRCh37: 1:170522421-170522421
GRCh38: 1:170553280-170553280
26 GORAB NM_152281.3(GORAB):c.*653T>C SNV Uncertain Significance
 293669 rs886045556 GRCh37: 1:170522256-170522256
GRCh38: 1:170553115-170553115
27 GORAB NM_152281.3(GORAB):c.276C>T (p.Thr92=) SNV Uncertain Significance
 293653 rs370271267 GRCh37: 1:170508565-170508565
GRCh38: 1:170539424-170539424
28 GORAB NM_152281.3(GORAB):c.*1127T>G SNV Uncertain Significance
 293681 rs542501839 GRCh37: 1:170522730-170522730
GRCh38: 1:170553589-170553589
29 GORAB NM_152281.3(GORAB):c.*1063T>A SNV Uncertain Significance
 293678 rs577629045 GRCh37: 1:170522666-170522666
GRCh38: 1:170553525-170553525
30 GORAB NM_152281.3(GORAB):c.*102G>A SNV Uncertain Significance
 293664 rs555373548 GRCh37: 1:170521705-170521705
GRCh38: 1:170552564-170552564
31 GORAB-AS1, GORAB NM_152281.3(GORAB):c.24C>G (p.Phe8Leu) SNV Uncertain Significance
 293648 rs151006839 GRCh37: 1:170501388-170501388
GRCh38: 1:170532247-170532247
32 GORAB NM_152281.3(GORAB):c.*980A>T SNV Uncertain Significance
 293676 rs544243091 GRCh37: 1:170522583-170522583
GRCh38: 1:170553442-170553442
33 GORAB NM_152281.3(GORAB):c.*771A>T SNV Uncertain Significance
 293670 rs886045557 GRCh37: 1:170522374-170522374
GRCh38: 1:170553233-170553233
34 GORAB NM_152281.3(GORAB):c.941C>T (p.Ala314Val) SNV Uncertain Significance
 293662 rs187680628 GRCh37: 1:170521434-170521434
GRCh38: 1:170552293-170552293
35 GORAB NM_152281.3(GORAB):c.*1160G>A SNV Uncertain Significance
 293682 rs550890680 GRCh37: 1:170522763-170522763
GRCh38: 1:170553622-170553622
36 GORAB NM_152281.3(GORAB):c.*222G>T SNV Uncertain Significance
 293665 rs886045553 GRCh37: 1:170521825-170521825
GRCh38: 1:170552684-170552684
37 GORAB NM_152281.3(GORAB):c.*803T>C SNV Uncertain Significance
 293671 rs753455699 GRCh37: 1:170522406-170522406
GRCh38: 1:170553265-170553265
38 GORAB NM_152281.3(GORAB):c.*598A>G SNV Uncertain Significance
 293668 rs886045555 GRCh37: 1:170522201-170522201
GRCh38: 1:170553060-170553060
39 GORAB NM_152281.3(GORAB):c.274A>G (p.Thr92Ala) SNV Uncertain Significance
 293652 rs759352018 GRCh37: 1:170508563-170508563
GRCh38: 1:170539422-170539422
40 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) SNV Uncertain Significance
 451817 rs781305219 GRCh37: 12:124221798-124221798
GRCh38: 12:123737251-123737251
41 GORAB-AS1, GORAB NM_152281.3(GORAB):c.-48dup DUP Uncertain Significance
 632087 rs759432675 GRCh37: 1:170501316-170501317
GRCh38: 1:170532175-170532176
42 GORAB NM_152281.3(GORAB):c.118C>T (p.Arg40Ter) SNV Uncertain Significance
 632088 rs369967804 GRCh37: 1:170508407-170508407
GRCh38: 1:170539266-170539266
43 GORAB NM_152281.3(GORAB):c.626G>A (p.Arg209Gln) SNV Uncertain Significance
 293658 rs200802067 GRCh37: 1:170513950-170513950
GRCh38: 1:170544809-170544809
44 GORAB NM_152281.3(GORAB):c.461G>A (p.Arg154Gln) SNV Uncertain Significance
 293655 rs749838967 GRCh37: 1:170511673-170511673
GRCh38: 1:170542532-170542532
45 GORAB NM_152281.3(GORAB):c.649T>C (p.Tyr217His) SNV Uncertain Significance
 523030 rs749490786 GRCh37: 1:170513973-170513973
GRCh38: 1:170544832-170544832
46 GORAB NM_152281.3(GORAB):c.522-9A>T SNV Uncertain Significance
 293656 rs185701616 GRCh37: 1:170513837-170513837
GRCh38: 1:170544696-170544696
47 GORAB NM_152281.3(GORAB):c.188A>G (p.Glu63Gly) SNV Uncertain Significance
 293651 rs200333798 GRCh37: 1:170508477-170508477
GRCh38: 1:170539336-170539336
48 GORAB NM_152281.3(GORAB):c.560G>A (p.Arg187Gln) SNV Uncertain Significance
 293657 rs190557815 GRCh37: 1:170513884-170513884
GRCh38: 1:170544743-170544743
49 GORAB NM_152281.3(GORAB):c.282C>G (p.Pro94=) SNV Uncertain Significance
 293654 rs767686838 GRCh37: 1:170508571-170508571
GRCh38: 1:170539430-170539430
50 ATP6V0A2 NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) SNV Uncertain Significance
 307578 rs144499089 GRCh37: 12:124209215-124209215
GRCh38: 12:123724668-123724668
Sources

Expression for Geroderma Osteodysplasticum

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Search GEO for disease gene expression data for Geroderma Osteodysplasticum.
Sources

Pathways for Geroderma Osteodysplasticum

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Pathways related to Geroderma Osteodysplasticum according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Golgi-to-ER retrograde transport 66
Show member pathways
 12.45 TRIP11 RAB6A COPB2 COG7 ARF5
2
Vesicle-mediated transport 66
Show member pathways
 12.28 TRIP11 RIN2 RAB6A MIA2 COPB2 COG7
3
Elastic fibre formation 66
Show member pathways
 11.04 LTBP4 FBLN5 EFEMP2
4
Glutamate and glutamine metabolism 66
Show member pathways
 10.72 PYCR1 ALDH18A1
Sources

GO Terms for Geroderma Osteodysplasticum

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Cellular components related to Geroderma Osteodysplasticum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.77 ATP6V0A2 B3GAT3 COG7 COPB2 GOLPH3 RAB6A
2 cis-Golgi network GO:0005801 9.73 TRIP11 SCYL1 B3GAT3
3 COPI vesicle coat GO:0030126 9.67 SCYL1 COPB2
4 microfibril GO:0001527 9.62 LTBP4 EFEMP2
5 Golgi apparatus GO:0005794 9.6 TRIP11 SCYL2 SCYL1 RAB6A GORAB GOLPH3
6 elastic fiber GO:0071953 9.46 FBLN5 EFEMP2

Biological processes related to Geroderma Osteodysplasticum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.73 SCYL1 RIN2 RAB6A COPB2 ARF5
2 Golgi ribbon formation GO:0090161 9.67 TRIP11 GOLPH3
3 L-proline biosynthetic process GO:0055129 9.62 PYCR1 ALDH18A1
4 proline biosynthetic process GO:0006561 9.46 PYCR1 ALDH18A1
5 amino acid biosynthetic process GO:0008652 9.4 PYCR1 ALDH18A1
6 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum GO:0006890 9.4 SCYL1 RAB6A GOLPH3 COPB2 COG7 ARF5
7 elastic fiber assembly GO:0048251 9.35 LTBP4 FBLN5 EFEMP2
Sources

Sources for Geroderma Osteodysplasticum

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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