MCID: GRD005
MIFTS: 28

Geroderma Osteodysplasticum

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

Aliases & Classifications for Geroderma Osteodysplasticum

MalaCards integrated aliases for Geroderma Osteodysplasticum:

Name: Geroderma Osteodysplasticum 57 75 37 13
Gerodermia Osteodysplastica 57 76 75
Geroderma Osteodysplastica 59 73
Walt Disney Dwarfism 57 75
Go 57 75

Characteristics:

Orphanet epidemiological data:

59
geroderma osteodysplastica
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
geroderma osteodysplasticum:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Geroderma Osteodysplasticum

UniProtKB/Swiss-Prot : 75 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 geroderma osteodysplastica and cutis laxa, autosomal dominant 1. 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 : 76 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 geroderma osteodysplastica 11.3
2 cutis laxa, autosomal dominant 1 11.2
3 wrinkly skin syndrome 10.2
4 cutis laxa 10.2

Symptoms & Phenotypes for Geroderma Osteodysplasticum

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Geroderma Osteodysplasticum:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 Occasional (29-5%) HP:0000272
2 mandibular prognathia 59 32 Occasional (29-5%) HP:0000303
3 beaking of vertebral bodies 59 32 Very frequent (99-80%) HP:0004568
4 osteoporosis 59 32 Very frequent (99-80%) HP:0000939
5 platyspondyly 59 32 Occasional (29-5%) HP:0000926
6 recurrent fractures 59 32 Very frequent (99-80%) HP:0002757
7 severe short stature 59 32 Very frequent (99-80%) HP:0003510
8 biconcave vertebral bodies 59 32 Very frequent (99-80%) HP:0004586
9 vertebral compression fractures 59 32 Very frequent (99-80%) HP:0002953
10 abnormality of epiphysis morphology 59 Occasional (29-5%)
11 osteopenia 32 HP:0000938
12 intellectual disability 32 HP:0001249
13 muscular hypotonia 59 Frequent (79-30%)
14 scoliosis 59 Frequent (79-30%)
15 global developmental delay 59 Occasional (29-5%)
16 delayed speech and language development 32 HP:0000750
17 pectus carinatum 59 Occasional (29-5%)
18 pes planus 59 Occasional (29-5%)
19 microcephaly 32 HP:0000252
20 intellectual disability, mild 59 Occasional (29-5%)
21 abnormality of the eye 59 Occasional (29-5%)
22 abnormality of vision 59 Occasional (29-5%)
23 hernia 59 Occasional (29-5%)
24 joint hyperflexibility 59 Very frequent (99-80%)
25 thin skin 59 Very frequent (99-80%)
26 wormian bones 32 HP:0002645
27 abnormal form of the vertebral bodies 59 Very frequent (99-80%)
28 growth delay 59 Frequent (79-30%)
29 hip dislocation 59 Frequent (79-30%)
30 deeply set eye 32 HP:0000490
31 hypoplasia of the maxilla 32 HP:0000327
32 prematurely aged appearance 59 Occasional (29-5%)
33 abnormal bone ossification 59 Very frequent (99-80%)
34 periodontitis 32 HP:0000704
35 redundant skin 59 Very frequent (99-80%)
36 microcornea 59 Occasional (29-5%)
37 hyperextensible skin 59 Very frequent (99-80%)
38 talipes 59 Occasional (29-5%)
39 femoral bowing 32 HP:0002980
40 tibial bowing 32 HP:0002982
41 camptodactyly 32 HP:0012385
42 irregular vertebral endplates 32 HP:0003301
43 cutis laxa 32 HP:0000973
44 hyperextensibility of the finger joints 32 HP:0001187

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:

41
Skin, Bone, Eye

Publications for Geroderma Osteodysplasticum

Articles related to Geroderma Osteodysplasticum:

# Title Authors Year
1
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis. ( 29424602 )
2018
2
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. ( 21204221 )
2011
3
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. ( 18348262 )
2008
4
Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding? ( 8723088 )
1996

Variations for Geroderma Osteodysplasticum

ClinVar genetic disease variations for Geroderma Osteodysplasticum:

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 Osteodysplasticum

Search GEO for disease gene expression data for Geroderma Osteodysplasticum.

Pathways for Geroderma Osteodysplasticum

GO Terms for Geroderma Osteodysplasticum

Sources for Geroderma Osteodysplasticum

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....