MCID: ACR034
MIFTS: 26

Acrogeria, Gottron Type

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Acrogeria, Gottron Type

MalaCards integrated aliases for Acrogeria, Gottron Type:

Name: Acrogeria, Gottron Type 56 52 58 71
Acrometageria 56 52 58
Metageria 56 74 52
Acrogeria 52 58 71
Gottron Syndrome 52 58
Familial Acrogeria 52

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 201200
MESH via Orphanet 44 C538187
ICD10 via Orphanet 33 L90.8
UMLS via Orphanet 72 C0238590 C0406584
Orphanet 58 ORPHA2500
UMLS 71 C0238590 C0406584

Summaries for Acrogeria, Gottron Type

NIH Rare Diseases : 52 Acrogeria, Gottron type includes the appearance of premature aging and slow growth. The symptoms include fragile, thin skin on the hands, feet and face. Other symptoms include visible blood vessels, easy bruising, and hair and nail abnormalities. Not many people have been reported with acrogeria, Gottron type but in general, it does not appear to get worse over time. Intelligence is normal. The cause is unknown, although several genes have been associated with it. Both autosomal recessive and autosomal dominant inheritance have been reported. Diagnosis is based on a clinical exam and the symptoms. Treatment is focused on managing the symptoms.

MalaCards based summary : Acrogeria, Gottron Type, also known as acrometageria, is related to ehlers-danlos syndrome, classic-like, 2 and ehlers-danlos syndrome, periodontal type, 1. An important gene associated with Acrogeria, Gottron Type is COL3A1 (Collagen Type III Alpha 1 Chain). Affiliated tissues include skin and bone, and related phenotypes are short stature and lipoatrophy

Wikipedia : 74 Metageria is a cutaneous condition characterized by premature... more...

More information from OMIM: 201200

Related Diseases for Acrogeria, Gottron Type

Diseases related to Acrogeria, Gottron Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic-like, 2 11.4
2 ehlers-danlos syndrome, periodontal type, 1 11.3
3 hutchinson-gilford progeria syndrome 10.4
4 skin atrophy 10.4
5 scleroderma, familial progressive 10.3
6 ehlers-danlos syndrome 10.3
7 perniosis 10.3
8 bunion 10.3
9 ehlers-danlos syndrome, vascular type 10.3
10 werner syndrome 10.3
11 dowling-degos disease 1 10.3
12 premature aging 10.3
13 elastosis perforans serpiginosa 10.2
14 down syndrome 10.2
15 autism spectrum disorder 10.2
16 acroosteolysis 10.1
17 aging 10.1
18 hypothyroidism 10.1
19 hyperuricemia 10.1
20 hypogonadism 10.1
21 ankylosis 10.1
22 arteriosclerosis 10.1
23 exophthalmos 10.1
24 sarcoidosis 1 10.1
25 phenylketonuria 10.1
26 yemenite deaf-blind hypopigmentation syndrome 10.1
27 telangiectasis 10.1
28 skin sarcoidosis 10.1
29 keratosis 10.1
30 cockayne syndrome 10.1
31 myotonia 10.1
32 progeroid syndrome 10.1
33 elastoma 10.1
34 late-onset focal dermal elastosis 10.1
35 avascular necrosis 10.1
36 viral hepatitis 10.0
37 plasmacytoma 10.0
38 scleromyxedema 10.0
39 encephalopathy 10.0

Graphical network of the top 20 diseases related to Acrogeria, Gottron Type:



Diseases related to Acrogeria, Gottron Type

Symptoms & Phenotypes for Acrogeria, Gottron Type

Human phenotypes related to Acrogeria, Gottron Type:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
3 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
4 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
5 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
6 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
7 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
8 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
9 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
10 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
11 convex nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000444
12 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
13 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
14 excessive wrinkled skin 58 31 frequent (33%) Frequent (79-30%) HP:0007392
15 skeletal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002652
16 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
17 prematurely aged appearance 58 Very frequent (99-80%)
18 aplasia/hypoplasia of the skin 58 Very frequent (99-80%)
19 abnormality of the skin 58 Very frequent (99-80%)

Clinical features from OMIM:

201200

Drugs & Therapeutics for Acrogeria, Gottron Type

Search Clinical Trials , NIH Clinical Center for Acrogeria, Gottron Type

Genetic Tests for Acrogeria, Gottron Type

Anatomical Context for Acrogeria, Gottron Type

MalaCards organs/tissues related to Acrogeria, Gottron Type:

40
Skin, Bone

Publications for Acrogeria, Gottron Type

Articles related to Acrogeria, Gottron Type:

(show all 17)
# Title Authors PMID Year
1
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family. 56 61
29595749 2018
2
COL3A1 mutation leading to acrogeria (Gottron Type) 61 56
10819545 2000
3
Acrometageria: a spectrum of "premature aging" syndromes. 61 56
1488981 1992
4
The premature ageing syndromes. Report of eight cases and description of a new entity named metageria. 61 56
4447659 1974
5
A new lamin a mutation associated with acrogeria syndrome. 56
24687084 2014
6
Acrogeria of the Gottron type in a mother and son. 56
10694296 2000
7
Hereditary Gottron's acrogeria with recessive transmission: a report of four cases in one family. 56
9933333 1999
8
Familial acrogeria (Gottron). 56
7426420 1980
9
[Acrogeria]. 56
6046455 1967
10
Sudden death in acrogeria Gottron type. 61
31673870 2019
11
Reduced phosphorylation of transcription factor Elk-1 in cultured fibroblasts of a patient with premature aging syndrome and insulin resistance. 61
15772901 2005
12
Acrogeria (Gottron type): a vascular disorder? 61
15327562 2004
13
[Metageria--clinical manifestations of a premature aging syndrome]. 61
9410852 1997
14
Transforming growth factor-beta reverses deficient expression of type (I) collagen in cultured fibroblasts of a patient with metageria. 61
9061041 1997
15
[Grotton's acrogeria with bone involvement]. 61
2258301 1990
16
[Simultaneous occurrence of metageria and Gottron's acrogeria in one family]. 61
4024679 1985
17
Idiopathic arterial calcification of infancy. 61
521302 1979

Variations for Acrogeria, Gottron Type

Expression for Acrogeria, Gottron Type

Search GEO for disease gene expression data for Acrogeria, Gottron Type.

Pathways for Acrogeria, Gottron Type

GO Terms for Acrogeria, Gottron Type

Sources for Acrogeria, Gottron Type

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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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