GO
MCID: GRD005
MIFTS: 30

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 58 76 38 13
Gerodermia Osteodysplastica 58 77 76
Geroderma Osteodysplastica 60 74
Walt Disney Dwarfism 58 76
Go 58 76

Characteristics:

Orphanet epidemiological data:

60
geroderma osteodysplastica
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
geroderma osteodysplasticum:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Geroderma Osteodysplasticum

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Geroderma Osteodysplasticum, also known as gerodermia osteodysplastica, is related to cutis laxa, autosomal recessive, type iib and autosomal recessive cutis laxa type iii. An important gene associated with Geroderma Osteodysplasticum is GORAB (Golgin, RAB6 Interacting). Affiliated tissues include skin, bone and eye, and related phenotypes are malar flattening and mandibular prognathia

Wikipedia : 77 Gerodermia osteodysplastica (GO), also called geroderma osteodysplasticum and Walt Disney dwarfism, is a... more...

Description from OMIM: 231070

Related Diseases for Geroderma Osteodysplasticum

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

# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iib 30.0 GORAB PYCR1
2 autosomal recessive cutis laxa type iii 29.8 GORAB PYCR1
3 geroderma osteodysplastica 11.8
4 cutis laxa, autosomal dominant 1 11.4
5 autosomal recessive cutis laxa type i 11.4
6 wrinkly skin syndrome 10.4
7 cutis laxa 10.4
8 cutis laxa, autosomal dominant 3 10.4
9 ehlers-danlos syndrome 10.4

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:

60 33 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 Occasional (29-5%) HP:0000272
2 mandibular prognathia 60 33 Occasional (29-5%) HP:0000303
3 beaking of vertebral bodies 60 33 Very frequent (99-80%) HP:0004568
4 osteoporosis 60 33 Very frequent (99-80%) HP:0000939
5 platyspondyly 60 33 Occasional (29-5%) HP:0000926
6 recurrent fractures 60 33 Very frequent (99-80%) HP:0002757
7 severe short stature 60 33 Very frequent (99-80%) HP:0003510
8 biconcave vertebral bodies 60 33 Very frequent (99-80%) HP:0004586
9 vertebral compression fractures 60 33 Very frequent (99-80%) HP:0002953
10 abnormality of epiphysis morphology 60 Occasional (29-5%)
11 osteopenia 33 HP:0000938
12 intellectual disability 33 HP:0001249
13 muscular hypotonia 60 Frequent (79-30%)
14 scoliosis 60 Frequent (79-30%)
15 global developmental delay 60 Occasional (29-5%)
16 delayed speech and language development 33 HP:0000750
17 pectus carinatum 60 Occasional (29-5%)
18 pes planus 60 Occasional (29-5%)
19 microcephaly 33 HP:0000252
20 intellectual disability, mild 60 Occasional (29-5%)
21 abnormality of the eye 60 Occasional (29-5%)
22 abnormality of vision 60 Occasional (29-5%)
23 hernia 60 Occasional (29-5%)
24 joint hyperflexibility 60 Very frequent (99-80%)
25 thin skin 60 Very frequent (99-80%)
26 wormian bones 33 HP:0002645
27 abnormal form of the vertebral bodies 60 Very frequent (99-80%)
28 growth delay 60 Frequent (79-30%)
29 kyphoscoliosis 33 HP:0002751
30 hip dislocation 60 Frequent (79-30%)
31 deeply set eye 33 HP:0000490
32 hypoplasia of the maxilla 33 HP:0000327
33 prematurely aged appearance 60 Occasional (29-5%)
34 abnormal bone ossification 60 Very frequent (99-80%)
35 periodontitis 33 HP:0000704
36 redundant skin 60 Very frequent (99-80%)
37 microcornea 60 Occasional (29-5%)
38 hyperextensible skin 60 Very frequent (99-80%)
39 talipes 60 Occasional (29-5%)
40 femoral bowing 33 HP:0002980
41 tibial bowing 33 HP:0002982
42 camptodactyly 33 HP:0012385
43 irregular vertebral endplates 33 HP:0003301
44 progeroid facial appearance 33 HP:0005328
45 cutis laxa 33 HP:0000973
46 hyperextensibility of the finger joints 33 HP:0001187

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Geroderma Osteodysplasticum

Search Clinical Trials , NIH Clinical Center for Geroderma Osteodysplasticum

Genetic Tests for Geroderma Osteodysplasticum

Anatomical Context for Geroderma Osteodysplasticum

MalaCards organs/tissues related to Geroderma Osteodysplasticum:

42
Skin, Bone, Eye

Publications for Geroderma Osteodysplasticum

Articles related to Geroderma Osteodysplasticum:

(show all 13)
# Title Authors Year
1
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis. ( 29424602 )
2018
2
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. ( 29561836 )
2018
3
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. ( 21204221 )
2011
4
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. ( 18348262 )
2008
5
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. ( 18304158 )
2008
6
Pregnancy in a gerodermia osteodysplastica patient: a case report. ( 18166294 )
2008
7
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. ( 18997784 )
2008
8
Gerodermia Osteodysplastica. ( 15630332 )
2004
9
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? ( 11424136 )
2001
10
Gerodermia osteodysplastica in a Bedouin sibship: further delineation of the syndrome. ( 9018419 )
1997
11
Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding? ( 8723088 )
1996
12
Gerodermia osteodysplastica: report on two patients and surgical correction of facial deformity. ( 8213917 )
1993
13
Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review. ( 474638 )
1979

Variations for Geroderma Osteodysplasticum

ClinVar genetic disease variations for Geroderma Osteodysplasticum:

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 Osteodysplasticum

Search GEO for disease gene expression data for Geroderma Osteodysplasticum.

Pathways for Geroderma Osteodysplasticum

GO Terms for Geroderma Osteodysplasticum

Sources for Geroderma Osteodysplasticum

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