GO
MCID: GRD005
MIFTS: 48

Geroderma Osteodysplasticum (GO)

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

Aliases & Classifications for Geroderma Osteodysplasticum

MalaCards integrated aliases for Geroderma Osteodysplasticum:

Name: Geroderma Osteodysplasticum 57 12 20 72 36 13 15
Geroderma Osteodysplastica 12 20 58 29 6 39 70
Gerodermia Osteodysplastica 57 12 73 20 72 44
Walt Disney Dwarfism 57 12 20 72
Go 57 12 20 72
Type of Gerodermia Osteodysplastica 6

Characteristics:

Orphanet epidemiological data:

58
geroderma osteodysplastica
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
geroderma osteodysplasticum:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Geroderma Osteodysplasticum

GARD : 20 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 mutations in the GORAB gene. Inheritance is autosomal recessive.

MalaCards based summary : Geroderma Osteodysplasticum, also known as geroderma osteodysplastica, is related to cutis laxa, autosomal dominant 1 and autosomal recessive cutis laxa type i. 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 Amino Acid metabolism. Affiliated tissues include bone, eye and skin, and related phenotypes are beaking of vertebral bodies and osteoporosis

Disease Ontology : 12 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.

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 20-May-2021)

KEGG : 36 Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin and severe osteopenia with spontaneous fractures and the lack of large open fontanels. Mutations have been discovered in SCYL1BP1, which localizes to the Golgi apparatus and is expressed in skin and osteoblasts.

UniProtKB/Swiss-Prot : 72 Geroderma osteodysplasticum: 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 : 73 Gerodermia osteodysplastica (GO), is a rare autosomal recessive connective tissue disorder included in... more...

Related Diseases for Geroderma Osteodysplasticum

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal dominant 1 32.1 FBLN5 EFEMP2 ALDH18A1
2 autosomal recessive cutis laxa type i 31.4 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
3 fbln5-related cutis laxa 30.8 FBLN5 EFEMP2
4 wrinkly skin syndrome 30.8 PYCR1 ATP6V0A2
5 congenital disorder of glycosylation, type in 30.4 GORAB COG7 ATP6V0A2
6 cutis laxa, autosomal recessive, type iib 30.0 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
7 cutis laxa 29.8 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
8 autosomal recessive cutis laxa type iii 29.6 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5
9 spastic paraplegia 9b, autosomal recessive 10.3 PYCR1 ALDH18A1
10 ureteric orifice cancer 10.3 FBLN5 EFEMP2
11 tricuspid valve prolapse 10.2 FBLN5 EFEMP2
12 spastic paraplegia 9a, autosomal dominant 10.2 PYCR1 ALDH18A1
13 leukodystrophy, hypomyelinating, 10 10.2 PYCR1 ALDH18A1
14 hypertelorism 10.2
15 autosomal recessive disease 10.2
16 ltbp4-related cutis laxa 10.2
17 autosomal recessive cutis laxa type 2 10.2
18 hypercementosis 10.2
19 atp6v0a2-related cutis laxa 10.2
20 premature aging 10.2
21 brittle bone disorder 10.2
22 bone mineral density quantitative trait locus 3 10.2
23 cutis laxa, autosomal dominant 3 10.2
24 ehlers-danlos syndrome 10.2
25 spinal stenosis 10.2
26 cataract 10.2
27 arterial tortuosity syndrome 10.1 LTBP4 FBLN5 EFEMP2
28 supravalvular aortic stenosis 10.1 LTBP4 FBLN5 EFEMP2
29 proximal spinal muscular atrophy 10.1 RAB6A FBLN5
30 loeys-dietz syndrome 10.1 LTBP4 FBLN5 EFEMP2
31 macs syndrome 10.1 RIN2 FBLN5
32 bladder diverticulum 10.0 LTBP4 FBLN5 EFEMP2 ATP6V0A2
33 cutis laxa, autosomal recessive, type iiia 10.0 RIN2 PYCR1 GORAB ATP6V0A2 ALDH18A1
34 cutis laxa, autosomal recessive, type iiib 9.9 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2 ALDH18A1
35 occipital horn syndrome 9.9 RIN2 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
36 cutis laxa, autosomal recessive, type iid 9.8 RIN2 LTBP4 GORAB ATP6V1A ATP6V0A2 ALDH18A1
37 immunodeficiency 47 9.8 COG7 ATP6V1A ATP6V0A2
38 cutis laxa, autosomal recessive, type ib 9.7 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
39 cutis laxa, autosomal recessive, type ic 9.7 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
40 cutis laxa, autosomal recessive, type iia 9.6 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5
41 cutis laxa, autosomal recessive, type ia 9.6 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5
42 autosomal recessive cutis laxa type ii classic type 9.3 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5

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



Diseases related to Geroderma Osteodysplasticum

Symptoms & Phenotypes for Geroderma Osteodysplasticum

Human phenotypes related to Geroderma Osteodysplasticum:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 beaking of vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0004568
2 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
3 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
4 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
5 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
6 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
7 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
8 biconcave vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0004586
9 vertebral compression fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002953
10 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
11 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
12 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
13 hypotonia 31 frequent (33%) HP:0001252
14 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
15 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
16 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
17 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
18 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
19 hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100790
20 prematurely aged appearance 58 31 occasional (7.5%) Occasional (29-5%) HP:0007495
21 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
22 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
23 platyspondyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000926
24 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
25 malar flattening 58 31 occasional (7.5%) Occasional (29-5%) HP:0000272
26 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
27 intellectual disability 31 HP:0001249
28 osteopenia 31 HP:0000938
29 muscular hypotonia 58 Frequent (79-30%)
30 delayed speech and language development 31 HP:0000750
31 microcephaly 31 HP:0000252
32 abnormal form of the vertebral bodies 58 Very frequent (99-80%)
33 growth delay 58 Frequent (79-30%)
34 kyphoscoliosis 31 HP:0002751
35 hypoplasia of the maxilla 31 HP:0000327
36 abnormality of the eye 58 Occasional (29-5%)
37 deeply set eye 31 HP:0000490
38 periodontitis 31 HP:0000704
39 wormian bones 31 HP:0002645
40 femoral bowing 31 HP:0002980
41 cutis laxa 31 HP:0000973
42 tibial bowing 31 HP:0002982
43 camptodactyly 31 HP:0012385
44 abnormal bone ossification 58 Very frequent (99-80%)
45 irregular vertebral endplates 31 HP:0003301
46 progeroid facial appearance 31 HP:0005328
47 hyperextensibility of the finger joints 31 HP:0001187

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

MGI Mouse Phenotypes related to Geroderma Osteodysplasticum:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.23 ALDH18A1 ATP6V0A2 DSE EFEMP2 FBLN5 GOLPH3

Drugs & Therapeutics for Geroderma Osteodysplasticum

Search Clinical Trials , NIH Clinical Center for Geroderma Osteodysplasticum

Cochrane evidence based reviews: gerodermia osteodysplastica

Genetic Tests for Geroderma Osteodysplasticum

Genetic tests related to Geroderma Osteodysplasticum:

# Genetic test Affiliating Genes
1 Geroderma Osteodysplastica 29 GORAB

Anatomical Context for Geroderma Osteodysplasticum

MalaCards organs/tissues related to Geroderma Osteodysplasticum:

40
Bone, Eye, Skin

Publications for Geroderma Osteodysplasticum

Articles related to Geroderma Osteodysplasticum:

(show all 29)
# Title Authors PMID Year
1
A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. 61 57 6
19681135 2009
2
Geroderma osteodysplastica. A report of two affected families. 61 6 57
631850 1978
3
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 6 57
18997784 2008
4
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 61 57
19006212 2008
5
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. 61 57
18348262 2008
6
Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding? 57 61
8723088 1996
7
Is geroderma osteodysplastica underdiagnosed? 57 61
3236370 1988
8
Mutations in PYCR1 cause cutis laxa with progeroid features. 57
19648921 2009
9
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 6
18157129 2008
10
Gerodermia osteodysplastica in a Bedouin sibship: further delineation of the syndrome. 57
9018419 1997
11
Gerodermia osteodysplastica: report on two patients and surgical correction of facial deformity. 57
8213917 1993
12
Congenital cutis laxa with retardation of growth and development. 57
3669050 1987
13
Congenital cutis laxa and osteoporosis. 57
6846273 1983
14
Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review. 57
474638 1979
15
[Osteodysplasic geroderma of sex-linked heredity, a new clinical and genetic entity]. 57
4980119 1969
16
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. 61
31438591 2019
17
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis. 61
29424602 2018
18
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. 61
28807865 2017
19
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. 61
28294978 2017
20
Transcriptional profiling and dynamical regulation analysis identify potential kernel target genes of SCYL1-BP1 in HEK293T cells. 61
25234469 2014
21
Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism. 61
23954411 2014
22
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. 61
21204221 2011
23
Decreased bone density and treatment in patients with autosomal recessive cutis laxa. 61
19055655 2009
24
Photo essay--geroderma osteodysplastica. 61
17640054 2007
25
Geroderma osteodysplastica. Report of a new family. 61
17014644 2006
26
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. 61
9643297 1998
27
Altered response to stimuli of the AP-1/DNA binding activity in a syndrome of precocious ageing (geroderma osteodysplastica hereditaria). 61
9541137 1998
28
Geroderma osteodysplastica hereditaria (GOH) in a girl. 61
7163276 1982
29
[Radiographic findings in geroderma osteodysplastica hereditaria]. 61
5692663 1968

Variations for Geroderma Osteodysplasticum

ClinVar genetic disease variations for Geroderma Osteodysplasticum:

6 (show top 50) (show all 74)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V0A2 NM_012463.4(ATP6V0A2):c.294+1G>A SNV Pathogenic 21499 rs80356751 GRCh37: 12:124206996-124206996
GRCh38: 12:123722449-123722449
2 GORAB NM_001320252.2(GORAB):c.-99G>T SNV Pathogenic 2650 rs119455951 GRCh37: 1:170508656-170508656
GRCh38: 1:170539515-170539515
3 GORAB GORAB, 2-BP DEL/2-BP INS, NT-1 Indel Pathogenic 2651 GRCh37:
GRCh38:
4 GORAB NM_152281.2(GORAB):c.859C>T (p.Arg287Ter) SNV Pathogenic 2652 rs119455952 GRCh37: 1:170521277-170521277
GRCh38: 1:170552136-170552136
5 GORAB NM_152281.2(GORAB):c.737+5G>C SNV Pathogenic 2653 rs1330106644 GRCh37: 1:170513991-170513991
GRCh38: 1:170544850-170544850
6 GORAB GORAB, 1-BP DEL, 257C Deletion Pathogenic 2654 GRCh37:
GRCh38:
7 GORAB NM_152281.2(GORAB):c.733G>C (p.Ala245Pro) SNV Pathogenic 218115 rs183596463 GRCh37: 1:170513982-170513982
GRCh38: 1:170544841-170544841
8 GORAB NM_152281.3(GORAB):c.231dup (p.Pro78fs) Duplication Pathogenic 800784 rs1571243797 GRCh37: 1:170508515-170508516
GRCh38: 1:170539374-170539375
9 GORAB NM_152281.3(GORAB):c.190C>T (p.Gln64Ter) SNV Pathogenic 1032476 GRCh37: 1:170508479-170508479
GRCh38: 1:170539338-170539338
10 GORAB NM_152281.3(GORAB):c.483del (p.Lys161fs) Deletion Pathogenic 1032477 GRCh37: 1:170511693-170511693
GRCh38: 1:170542552-170542552
11 GORAB-AS1 , GORAB NM_152281.3(GORAB):c.5del (p.Ala2fs) Deletion Likely pathogenic 804379 rs1571232872 GRCh37: 1:170501369-170501369
GRCh38: 1:170532228-170532228
12 GORAB NM_001320252.2(GORAB):c.-58_-57del Deletion Likely pathogenic 225381 rs1085307068 GRCh37: 1:170508696-170508697
GRCh38: 1:170539555-170539556
13 GORAB-AS1 , GORAB NM_152281.2(GORAB):c.-1_1delinsCT (p.Met1Leu) Indel Likely pathogenic 623306 rs1557999318 GRCh37: 1:170501289-170501290
GRCh38: 1:170532148-170532149
14 ATP6V0A2 NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) SNV Uncertain significance 307578 rs144499089 GRCh37: 12:124209215-124209215
GRCh38: 12:123724668-123724668
15 ATP6V0A2 NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) SNV Uncertain significance 390767 rs143509747 GRCh37: 12:124209328-124209328
GRCh38: 12:123724781-123724781
16 ATP6V0A2 NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) SNV Uncertain significance 307580 rs143802431 GRCh37: 12:124212422-124212422
GRCh38: 12:123727875-123727875
17 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) SNV Uncertain significance 451817 rs781305219 GRCh37: 12:124221798-124221798
GRCh38: 12:123737251-123737251
18 GORAB-AS1 , GORAB NM_001320252.2(GORAB):c.-813dup Duplication Uncertain significance 632087 rs759432675 GRCh37: 1:170501316-170501317
GRCh38: 1:170532175-170532176
19 GORAB NM_152281.2(GORAB):c.193C>T (p.Arg65Ter) SNV Uncertain significance 632088 rs369967804 GRCh37: 1:170508407-170508407
GRCh38: 1:170539266-170539266
20 GORAB NM_152281.2(GORAB):c.724T>C (p.Tyr242His) SNV Uncertain significance 523030 rs749490786 GRCh37: 1:170513973-170513973
GRCh38: 1:170544832-170544832
21 GORAB NM_152281.2(GORAB):c.*349G>A SNV Uncertain significance 293666 rs886045554 GRCh37: 1:170521952-170521952
GRCh38: 1:170552811-170552811
22 GORAB NM_152281.2(GORAB):c.*1160G>A SNV Uncertain significance 293682 rs550890680 GRCh37: 1:170522763-170522763
GRCh38: 1:170553622-170553622
23 GORAB NM_152281.2(GORAB):c.*222G>T SNV Uncertain significance 293665 rs886045553 GRCh37: 1:170521825-170521825
GRCh38: 1:170552684-170552684
24 GORAB NM_152281.2(GORAB):c.*1039A>G SNV Uncertain significance 293677 rs777070030 GRCh37: 1:170522642-170522642
GRCh38: 1:170553501-170553501
25 GORAB NM_152281.2(GORAB):c.701G>A (p.Arg234Gln) SNV Uncertain significance 293658 rs200802067 GRCh37: 1:170513950-170513950
GRCh38: 1:170544809-170544809
26 GORAB NM_152281.2(GORAB):c.536G>A (p.Arg179Gln) SNV Uncertain significance 293655 rs749838967 GRCh37: 1:170511673-170511673
GRCh38: 1:170542532-170542532
27 GORAB NM_152281.3(GORAB):c.596T>G (p.Val199Gly) SNV Uncertain significance 816877 rs764819857 GRCh37: 1:170513920-170513920
GRCh38: 1:170544779-170544779
28 GORAB NM_152281.3(GORAB):c.*998A>G SNV Uncertain significance 873977 GRCh37: 1:170522601-170522601
GRCh38: 1:170553460-170553460
29 GORAB NM_152281.3(GORAB):c.785G>A (p.Arg262Gln) SNV Uncertain significance 1032478 GRCh37: 1:170521278-170521278
GRCh38: 1:170552137-170552137
30 GORAB NM_152281.2(GORAB):c.700C>T (p.Arg234Trp) SNV Uncertain significance 288166 rs138502097 GRCh37: 1:170513949-170513949
GRCh38: 1:170544808-170544808
31 GORAB NM_152281.3(GORAB):c.*1305T>C SNV Uncertain significance 874914 GRCh37: 1:170522908-170522908
GRCh38: 1:170553767-170553767
32 GORAB-AS1 , GORAB NC_000001.11:g.170532151G>A SNV Uncertain significance 875751 GRCh37: 1:170501292-170501292
GRCh38: 1:170532151-170532151
33 GORAB NM_152281.3(GORAB):c.1064G>T (p.Cys355Phe) SNV Uncertain significance 875795 GRCh37: 1:170521557-170521557
GRCh38: 1:170552416-170552416
34 GORAB NM_152281.3(GORAB):c.*404A>G SNV Uncertain significance 875796 GRCh37: 1:170522007-170522007
GRCh38: 1:170552866-170552866
35 GORAB-AS1 , GORAB NM_152281.3(GORAB):c.-57T>C SNV Uncertain significance 876745 GRCh37: 1:170501308-170501308
GRCh38: 1:170532167-170532167
36 GORAB-AS1 , GORAB NM_152281.3(GORAB):c.-53C>A SNV Uncertain significance 876746 GRCh37: 1:170501312-170501312
GRCh38: 1:170532171-170532171
37 GORAB-AS1 , GORAB NM_152281.3(GORAB):c.61+13G>T SNV Uncertain significance 876747 GRCh37: 1:170501438-170501438
GRCh38: 1:170532297-170532297
38 GORAB NM_152281.3(GORAB):c.82C>T (p.Arg28Cys) SNV Uncertain significance 876748 GRCh37: 1:170508371-170508371
GRCh38: 1:170539230-170539230
39 GORAB NM_152281.3(GORAB):c.*612A>G SNV Uncertain significance 876790 GRCh37: 1:170522215-170522215
GRCh38: 1:170553074-170553074
40 GORAB-AS1 , GORAB NM_152281.3(GORAB):c.61G>T (p.Asp21Tyr) SNV Uncertain significance 931046 GRCh37: 1:170501425-170501425
GRCh38: 1:170532284-170532284
41 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp) SNV Uncertain significance 982811 GRCh37: 12:124239014-124239014
GRCh38: 12:123754467-123754467
42 GORAB NM_152281.2(GORAB):c.188T>G (p.Leu63Arg) SNV Uncertain significance 293650 rs781535204 GRCh37: 1:170508402-170508402
GRCh38: 1:170539261-170539261
43 GORAB NM_152281.2(GORAB):c.*944A>G SNV Uncertain significance 293675 rs371932538 GRCh37: 1:170522547-170522547
GRCh38: 1:170553406-170553406
44 GORAB NM_152281.2(GORAB):c.*818A>G SNV Uncertain significance 293672 rs886045558 GRCh37: 1:170522421-170522421
GRCh38: 1:170553280-170553280
45 GORAB NM_152281.2(GORAB):c.*653T>C SNV Uncertain significance 293669 rs886045556 GRCh37: 1:170522256-170522256
GRCh38: 1:170553115-170553115
46 GORAB NM_152281.2(GORAB):c.351C>T (p.Thr117=) SNV Uncertain significance 293653 rs370271267 GRCh37: 1:170508565-170508565
GRCh38: 1:170539424-170539424
47 GORAB NM_152281.2(GORAB):c.*1127T>G SNV Uncertain significance 293681 rs542501839 GRCh37: 1:170522730-170522730
GRCh38: 1:170553589-170553589
48 GORAB NM_152281.2(GORAB):c.*1063T>A SNV Uncertain significance 293678 rs577629045 GRCh37: 1:170522666-170522666
GRCh38: 1:170553525-170553525
49 GORAB NM_152281.2(GORAB):c.597-9A>T SNV Uncertain significance 293656 rs185701616 GRCh37: 1:170513837-170513837
GRCh38: 1:170544696-170544696
50 GORAB NM_152281.2(GORAB):c.*102G>A SNV Uncertain significance 293664 rs555373548 GRCh37: 1:170521705-170521705
GRCh38: 1:170552564-170552564

Expression for Geroderma Osteodysplasticum

Search GEO for disease gene expression data for Geroderma Osteodysplasticum.

Pathways for Geroderma Osteodysplasticum

GO Terms for Geroderma Osteodysplasticum

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

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.63 RAB6A GOLGA1 FTCD DSE COPE COG7
2 Golgi apparatus GO:0005794 9.36 SCYL2 SCYL1 RAB6A GORAB GOLPH3 GOLGA1
3 COPI vesicle coat GO:0030126 9.32 SCYL1 COPE
4 microfibril GO:0001527 9.26 LTBP4 EFEMP2
5 elastic fiber GO:0071953 8.96 FBLN5 EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.8 RAB6A GOLPH3 COPE COG7 ARF5
2 vesicle-mediated transport GO:0016192 9.67 SCYL1 RAB6A COPE ARF5
3 phagosome acidification GO:0090383 9.46 ATP6V1A ATP6V0A2
4 protein localization to Golgi apparatus GO:0034067 9.43 RAB6A COG7
5 L-proline biosynthetic process GO:0055129 9.32 PYCR1 ALDH18A1
6 cellular response to increased oxygen levels GO:0036295 9.26 ATP6V1A ATP6V0A2
7 proline biosynthetic process GO:0006561 9.16 PYCR1 ALDH18A1
8 elastic fiber assembly GO:0048251 9.13 LTBP4 FBLN5 EFEMP2
9 retrograde vesicle-mediated transport, Golgi to ER GO:0006890 9.1 SCYL1 RAB6A GOLPH3 COPE COG7 ARF5

Molecular functions related to Geroderma Osteodysplasticum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton-transporting ATPase activity, rotational mechanism GO:0046961 8.62 ATP6V1A ATP6V0A2

Sources for Geroderma Osteodysplasticum

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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