ACMICD
MCID: ACR043
MIFTS: 49

Acromicric Dysplasia (ACMICD)

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

Aliases & Classifications for Acromicric Dysplasia

MalaCards integrated aliases for Acromicric Dysplasia:

Name: Acromicric Dysplasia 57 12 73 20 43 58 72 36 29 13 6 44 15 70
Acmicd 57 12 43 72
Acromicric Skeletal Dysplasia 12 20
Dysplasia, Acromicric 39

Characteristics:

Orphanet epidemiological data:

58
acromicric dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

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


HPO:

31
acromicric dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111243
OMIM® 57 102370
KEGG 36 H02228
SNOMED-CT 67 254090007
MESH via Orphanet 45 C535662
ICD10 via Orphanet 33 Q77.8
UMLS via Orphanet 71 C0265287
Orphanet 58 ORPHA969
UMLS 70 C0265287

Summaries for Acromicric Dysplasia

MedlinePlus Genetics : 43 Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.Newborns with acromicric dysplasia are of normal size, but slow growth over time results in short stature. The average height of adults with this disorder is about 4 feet, 2 inches for women and 4 feet, 5 inches for men. The long bones of the arms and legs, and the bones in the hands and feet, are shorter than would be expected for the individual's height. Other skeletal features that occur in this disorder include slowed mineralization of bone (delayed bone age), abnormally shaped bones of the spine (vertebrae), and constrained movement of joints. Affected individuals often develop carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. A misalignment of the hip joints (hip dysplasia) can also occur in this disorder. These skeletal and joint problems may require treatment, but most affected individuals have few limitations in their activities.Children with acromicric dysplasia may have a round face, sharply defined eyebrows, long eyelashes, a bulbous nose with upturned nostrils, a long space between the nose and upper lip (long philtrum), and a small mouth with thick lips. These facial differences become less apparent in adulthood. Intelligence is unaffected in this disorder, and life expectancy is generally normal.

MalaCards based summary : Acromicric Dysplasia, also known as acmicd, is related to geleophysic dysplasia 3 and geleophysic dysplasia 2, and has symptoms including hoarseness and thick skin. An important gene associated with Acromicric Dysplasia is FBN1 (Fibrillin 1), and among its related pathways/superpathways are HIV Life Cycle and Phospholipase-C Pathway. Affiliated tissues include bone and skin, and related phenotypes are short nose and anteverted nares

Disease Ontology : 12 An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has material basis in heterozygous mutation in FBN1 on 15q21.1.

GARD : 20 Acromicric dysplasia affects the growth and development of the bones. Signs and symptoms include short stature, short hands and feet, and distinctive facial features. Overtime, people with acromicric dysplasia may develop limited joint movement and hip dislocations. Acromicric dysplasia does not affect intelligence or learning. Acromicric dysplasia is caused by genetic variants in the FBN1 gene or the LTBP3 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and imaging studies. Diagnosis may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.

OMIM® : 57 Acromicric dysplasia is an autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal (summary by Le Goff et al., 2011). Allelic disorders with overlapping skeletal and joint features include geleophysic dysplasia-2 (GPHYSD2; 614185) and the autosomal dominant form of Weill-Marchesani syndrome (608328). (102370) (Updated 20-May-2021)

KEGG : 36 Acromicric dysplasia is a rare autosomal dominant bone dysplasia characterised by severe short stature, short hands and feet, joint limitations, skin thickening, and distinct facial features. It has been reported that mutations in FBN1 are responsible for this disease.

UniProtKB/Swiss-Prot : 72 Acromicric dysplasia: An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well- defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal.

Wikipedia : 73 Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and... more...

Related Diseases for Acromicric Dysplasia

Diseases related to Acromicric Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 geleophysic dysplasia 3 30.0 TBRG1 LTBP3 LTBP2 ADAMTSL2
2 geleophysic dysplasia 2 29.8 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
3 brachydactyly 29.7 LTBP2 FBN1 ADAMTSL2 ADAMTS17 ADAMTS10
4 stiff skin syndrome 28.7 TBRG1 LTBP3 LOC113939944 FBN2 FBN1 ADAMTSL4
5 geleophysic dysplasia 27.6 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
6 weill-marchesani syndrome 25.8 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
7 marfanoid-progeroid-lipodystrophy syndrome 10.3 LOC113939944 FBN1
8 isolated microspherophakia 10.2 LTBP2 ADAMTS10
9 aortic aneurysm, familial thoracic 2 10.2 FBN2 FBN1
10 carpal tunnel syndrome 10.2
11 tricuspid valve prolapse 10.2 FBN2 FBN1
12 excessive tearing 10.2 LTBP3 LTBP2
13 heritable thoracic aortic disease 10.2 LTBP3 FBN1
14 witkop syndrome 10.2 LTBP3 LTBP2
15 marden-walker syndrome 10.2 FBN2 FBN1
16 hydrophthalmos 10.2 LTBP3 LTBP2
17 brachyolmia 10.2 LTBP3 LTBP2
18 iris disease 10.1 LTBP3 LTBP2 FBN1
19 dwarfism with stiff joints and ocular abnormalities 10.1
20 acromelic dysplasia 10.1
21 aortic valve insufficiency 10.1 FBN2 FBN1
22 postural orthostatic tachycardia syndrome 10.1 TBRG1 FBN2 FBN1
23 weill-marchesani syndrome 1 10.1 LTBP2 FBN1 ADAMTS10
24 cutis laxa 10.1 LTBP3 LTBP1 FBN1
25 enophthalmos 10.1 FBN2 FBN1
26 camurati-engelmann disease 10.1 LTBP3 LTBP2
27 ehlers-danlos syndrome, dermatosparaxis type 10.0 PAPLN ADAMTSL1
28 primary congenital glaucoma 10.0 LTBP3 LTBP2 FBN1 ADAMTS10
29 myhre syndrome 10.0
30 autosomal recessive disease 10.0
31 respiratory failure 10.0
32 mitral valve insufficiency 10.0
33 patent foramen ovale 10.0
34 osteochondrodysplasia 10.0
35 hemophilia 10.0
36 dwarfism 10.0
37 lens position anomaly 10.0 FBN1 ADAMTSL4
38 contractural arachnodactyly, congenital 10.0 FBN3 FBN2 FBN1
39 phacogenic glaucoma 9.9 LTBP3 LTBP2 LTBP1 FBN1
40 autosomal recessive cutis laxa type i 9.9 LTBP3 LTBP2 LTBP1 FBN1
41 glaucoma 3, primary congenital, a 9.9 LTBP3 LTBP2 ADAMTS17 ADAMTS10
42 loeys-dietz syndrome 9.9 LTBP1 LOC113939944 FBN2 FBN1
43 juvenile glaucoma 9.9 LTBP3 LTBP2
44 geleophysic dysplasia 1 9.9 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
45 glaucoma, primary open angle 9.8 LTBP3 LTBP2 FBN1 ADAMTS17 ADAMTS10
46 winchester syndrome 9.8 ADAMTSL3 ADAMTSL1 ADAMTS17
47 aortic aneurysm, familial thoracic 1 9.8 LTBP3 LTBP2 LTBP1 FBN2 FBN1
48 myopia 9.7 LTBP2 FBN2 FBN1 ADAMTS17 ADAMTS10
49 sulfite oxidase deficiency, isolated 9.7 ADAMTSL4 ADAMTS10
50 megalocornea 9.6 LTBP3 LTBP2 LTBP1 FBN1 ADAMTS17 ADAMTS10

Graphical network of the top 20 diseases related to Acromicric Dysplasia:



Diseases related to Acromicric Dysplasia

Symptoms & Phenotypes for Acromicric Dysplasia

Human phenotypes related to Acromicric Dysplasia:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
2 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
3 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
4 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
5 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
6 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
7 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
8 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
9 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
10 abnormal eyebrow morphology 31 hallmark (90%) HP:0000534
11 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
12 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
13 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
14 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
15 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
16 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
17 ovoid vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003300
18 abnormality of femur morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002823
19 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
20 hoarse voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001609
21 short metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010049
22 fifth metacarpal with ulnar notch 58 31 occasional (7.5%) Occasional (29-5%) HP:0005900
23 deep philtrum 31 HP:0002002
24 abnormality of the eyebrow 58 Very frequent (99-80%)
25 short foot 31 HP:0001773
26 cone-shaped epiphysis 31 HP:0010579
27 thickened skin 31 HP:0001072
28 short phalanx of finger 31 HP:0009803
29 short long bone 31 HP:0003026

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
ovoid vertebral bodies

Head And Neck Nose:
bulbous nose
anteverted nostrils

Head And Neck Eyes:
long eyelashes
well-defined eyebrows

Skin Nails Hair Skin:
thick skin

Skeletal Hands:
short hands
short, stubby metacarpals
short, stubby phalanges
second metacarpal notched proximally on radial side
fifth metacarpal notched on ulnar side

Growth Other:
pseudomuscular build

Skeletal:
delayed bone age

Laboratory Abnormalities:
growth cartilage disorganized, with islands of cells and abnormal collagen arrangement

Head And Neck Face:
long philtrum
round face
prominent philtrum
mild facial anomalies

Voice:
hoarse voice

Skin Nails Hair Hair:
long eyelashes
well-defined eyebrows

Skeletal Limbs:
cone-shaped epiphyses
internal notch of femoral head
shortened long tubular bones

Growth Height:
short stature, severe

Head And Neck Mouth:
small mouth
thick lips

Skeletal Feet:
short feet

Clinical features from OMIM®:

102370 (Updated 20-May-2021)

UMLS symptoms related to Acromicric Dysplasia:


hoarseness; thick skin

GenomeRNAi Phenotypes related to Acromicric Dysplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.36 ADAMTS17
2 Decreased viability GR00381-A-1 9.36 ADAMTS17 FBN3 LTBP3
3 Decreased viability GR00381-A-2 9.36 ADAMTS17 FBN3
4 Decreased viability GR00381-A-3 9.36 ADAMTS17 FBN3 LTBP3
5 Decreased viability GR00402-S-2 9.36 ADAMTS17 LTBP3

Drugs & Therapeutics for Acromicric Dysplasia

Search Clinical Trials , NIH Clinical Center for Acromicric Dysplasia

Cochrane evidence based reviews: acromicric dysplasia

Genetic Tests for Acromicric Dysplasia

Genetic tests related to Acromicric Dysplasia:

# Genetic test Affiliating Genes
1 Acromicric Dysplasia 29 FBN1

Anatomical Context for Acromicric Dysplasia

MalaCards organs/tissues related to Acromicric Dysplasia:

40
Bone, Skin

Publications for Acromicric Dysplasia

Articles related to Acromicric Dysplasia:

(show all 30)
# Title Authors PMID Year
1
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 61 57
21683322 2011
2
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. 57 61
11694546 2001
3
Acromicric dysplasia. 61 57
3728563 1986
4
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. 57
26860060 2016
5
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 6
25979247 2015
6
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. 6
1852206 1991
7
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases. 61
33082559 2021
8
Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review. 61
32406602 2020
9
Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders. 61
30887145 2019
10
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. 61
29191498 2018
11
Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment. 61
27834076 2017
12
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. 61
27935852 2017
13
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 61
27068007 2016
14
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review. 61
26875674 2016
15
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 61
27245183 2016
16
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. 61
24442880 2015
17
Children with short-limbed short stature in pediatric endocrinological services in Japan. 61
25244068 2014
18
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia. 61
25142510 2014
19
Orthopedics management of acromicric dysplasia: follow up of nine patients. 61
24339047 2014
20
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. 61
24214363 2013
21
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 61
23897642 2013
22
Bilateral carpal tunnel syndrome in a 9-year-old boy with acromicric dysplasia. 61
23027497 2012
23
From tall to short: the role of TGFβ signaling in growth and its disorders. 61
22791552 2012
24
Genetic and molecular aspects of acromelic dysplasia. 61
19396027 2009
25
Subglottic stenosis in short-statured children: a case for further investigation of airway symptoms in patients with skeletal dysplasias. 61
16105694 2006
26
[Acromicric dysplasia]. 61
11462371 2001
27
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. 61
8777926 1996
28
[The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type]. 61
7493737 1995
29
Moore-Federman syndrome and acromicric dysplasia: are they the same entity? 61
2732993 1989
30
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. 61
3130853 1987

Variations for Acromicric Dysplasia

ClinVar genetic disease variations for Acromicric Dysplasia:

6 (show top 50) (show all 293)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBN1 NM_000138.4(FBN1):c.5096A>G (p.Tyr1699Cys) SNV Pathogenic 29696 rs387906622 GRCh37: 15:48755407-48755407
GRCh38: 15:48463210-48463210
2 FBN1 NM_000138.4(FBN1):c.5182G>A (p.Ala1728Thr) SNV Pathogenic 29698 rs387906624 GRCh37: 15:48755321-48755321
GRCh38: 15:48463124-48463124
3 FBN1 NM_000138.4(FBN1):c.5250T>G (p.Ser1750Arg) SNV Pathogenic 29700 rs1131692052 GRCh37: 15:48752489-48752489
GRCh38: 15:48460292-48460292
4 FBN1 NM_000138.4(FBN1):c.5202_5204dup (p.Gln1735dup) Duplication Pathogenic 29702 rs587776863 GRCh37: 15:48755298-48755299
GRCh38: 15:48463101-48463102
5 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) SNV Pathogenic 36082 rs113871094 GRCh37: 15:48758017-48758017
GRCh38: 15:48465820-48465820
6 FBN1 NM_000138.5(FBN1):c.1948C>T SNV Pathogenic 36042 rs193922185 GRCh37: 15:48797234-48797234
GRCh38: 15:48505037-48505037
7 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) SNV Pathogenic 264272 rs111984349 GRCh37: 15:48707956-48707956
GRCh38: 15:48415759-48415759
8 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) SNV Pathogenic 36107 rs193922228 GRCh37: 15:48722933-48722933
GRCh38: 15:48430736-48430736
9 FBN1 NM_000138.5(FBN1):c.5099A>G SNV Pathogenic 29701 rs387906626 GRCh37: 15:48755404-48755404
GRCh38: 15:48463207-48463207
10 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) Deletion Pathogenic 625943 rs1566911957 GRCh37: 15:48788401-48788411
GRCh38: 15:48496204-48496214
11 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) SNV Pathogenic 163480 rs727503057 GRCh37: 15:48797303-48797303
GRCh38: 15:48505106-48505106
12 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) SNV Pathogenic 180352 rs730880099 GRCh37: 15:48802322-48802322
GRCh38: 15:48510125-48510125
13 FBN1 NM_000138.5(FBN1):c.2645C>T SNV Pathogenic 200001 rs794728195 GRCh37: 15:48787352-48787352
GRCh38: 15:48495155-48495155
14 FBN1 NM_000138.5(FBN1):c.3712G>A SNV Pathogenic 200022 rs794728208 GRCh37: 15:48777571-48777571
GRCh38: 15:48485374-48485374
15 FBN1 NM_000138.5(FBN1):c.1468+5G>A SNV Pathogenic 42284 rs397515757 GRCh37: 15:48807579-48807579
GRCh38: 15:48515382-48515382
16 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) SNV Pathogenic 16461 rs137854480 GRCh37: 15:48829826-48829826
GRCh38: 15:48537629-48537629
17 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) SNV Pathogenic 36078 rs111401431 GRCh37: 15:48760294-48760294
GRCh38: 15:48468097-48468097
18 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) SNV Pathogenic 265401 rs140583 GRCh37: 15:48787416-48787416
GRCh38: 15:48495219-48495219
19 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) SNV Likely pathogenic 523334 rs1555397413 GRCh37: 15:48762902-48762902
GRCh38: 15:48470705-48470705
20 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) SNV Likely pathogenic 626100 rs71467648 GRCh37: 15:48730095-48730095
GRCh38: 15:48437898-48437898
21 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) SNV Likely pathogenic 457162 rs1555400373 GRCh37: 15:48807590-48807590
GRCh38: 15:48515393-48515393
22 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Likely pathogenic 163462 rs727503054 GRCh37: 15:48712949-48712949
GRCh38: 15:48420752-48420752
23 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) Duplication Likely pathogenic 828001 rs1597631624 GRCh37: 15:48902952-48902953
GRCh38: 15:48610755-48610756
24 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser) SNV Likely pathogenic 495590 rs397515791 GRCh37: 15:48779559-48779559
GRCh38: 15:48487362-48487362
25 FBN1 NM_000138.4(FBN1):c.4460-8G>A SNV Likely pathogenic 36075 rs193922204 GRCh37: 15:48760739-48760739
GRCh38: 15:48468542-48468542
26 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) SNV Likely pathogenic 200191 rs794728334 GRCh37: 15:48729266-48729266
GRCh38: 15:48437069-48437069
27 FBN1 NM_000138.4(FBN1):c.5546-1G>A SNV Likely pathogenic 626102 rs1566899590 GRCh37: 15:48741091-48741091
GRCh38: 15:48448894-48448894
28 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) SNV Likely pathogenic 439708 rs113543334 GRCh37: 15:48725141-48725141
GRCh38: 15:48432944-48432944
29 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) SNV Likely pathogenic 549204 rs1555397718 GRCh37: 15:48766763-48766763
GRCh38: 15:48474566-48474566
30 FBN1 NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) SNV Uncertain significance 42355 rs201273753 GRCh37: 15:48764814-48764814
GRCh38: 15:48472617-48472617
31 FBN1 NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu) SNV Uncertain significance 501654 rs368650399 GRCh37: 15:48762932-48762932
GRCh38: 15:48470735-48470735
32 FBN1 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) SNV Uncertain significance 200054 rs776625874 GRCh37: 15:48760155-48760155
GRCh38: 15:48467958-48467958
33 FBN1 NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) SNV Uncertain significance 42434 rs141133182 GRCh37: 15:48707932-48707932
GRCh38: 15:48415735-48415735
34 FBN1 NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu) SNV Uncertain significance 418202 rs146469379 GRCh37: 15:48707757-48707757
GRCh38: 15:48415560-48415560
35 FBN1 NM_000138.4(FBN1):c.8232G>C (p.Gln2744His) SNV Uncertain significance 457269 rs376119827 GRCh37: 15:48703571-48703571
GRCh38: 15:48411374-48411374
36 FBN1 NM_000138.4(FBN1):c.83A>G (p.Asn28Ser) SNV Uncertain significance 36130 rs193922245 GRCh37: 15:48936884-48936884
GRCh38: 15:48644687-48644687
37 FBN1 NM_000138.5(FBN1):c.164+5A>G SNV Uncertain significance 42289 rs397515760 GRCh37: 15:48936798-48936798
GRCh38: 15:48644601-48644601
38 FBN1 NM_000138.4(FBN1):c.793A>T (p.Thr265Ser) SNV Uncertain significance 527175 rs982468949 GRCh37: 15:48826346-48826346
GRCh38: 15:48534149-48534149
39 FBN1 NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp) SNV Uncertain significance 237085 rs878853678 GRCh37: 15:48789550-48789550
GRCh38: 15:48497353-48497353
40 FBN1 NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser) SNV Uncertain significance 519804 rs145464311 GRCh37: 15:48787397-48787397
GRCh38: 15:48495200-48495200
41 FBN1 NM_000138.4(FBN1):c.6957T>C (p.Asn2319=) SNV Uncertain significance 626101 rs1290478839 GRCh37: 15:48720583-48720583
GRCh38: 15:48428386-48428386
42 FBN1 NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) SNV Uncertain significance 828000 rs1052480459 GRCh37: 15:48730034-48730034
GRCh38: 15:48437837-48437837
43 FBN1 NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu) SNV Uncertain significance 626103 rs1566904712 GRCh37: 15:48760729-48760729
GRCh38: 15:48468532-48468532
44 FBN1 NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) SNV Uncertain significance 381319 rs141925790 GRCh37: 15:48756163-48756163
GRCh38: 15:48463966-48463966
45 FBN1 NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr) SNV Uncertain significance 228689 rs765839151 GRCh37: 15:48703260-48703260
GRCh38: 15:48411063-48411063
46 FBN1 NM_000138.4(FBN1):c.6577G>A (p.Glu2193Lys) SNV Uncertain significance 255306 rs201361628 GRCh37: 15:48726830-48726830
GRCh38: 15:48434633-48434633
47 FBN1 NM_000138.4(FBN1):c.5788+4C>A SNV Uncertain significance 316370 rs577301285 GRCh37: 15:48738899-48738899
GRCh38: 15:48446702-48446702
48 FBN1 NM_000138.5(FBN1):c.3224G>A (p.Arg1075His) SNV Uncertain significance 887213 GRCh37: 15:48780423-48780423
GRCh38: 15:48488226-48488226
49 FBN1 NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) SNV Uncertain significance 886456 GRCh37: 15:48719904-48719904
GRCh38: 15:48427707-48427707
50 FBN1 NM_000138.4(FBN1):c.3083A>G (p.Asp1028Gly) SNV Uncertain significance 429319 rs1131691317 GRCh37: 15:48780690-48780690
GRCh38: 15:48488493-48488493

UniProtKB/Swiss-Prot genetic disease variations for Acromicric Dysplasia:

72
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Tyr1699Cys VAR_066528 rs387906622
2 FBN1 p.Tyr1700Cys VAR_066530 rs387906626
3 FBN1 p.Met1714Arg VAR_066532
4 FBN1 p.Ser1722Cys VAR_066534
5 FBN1 p.Gly1726Val VAR_066535 rs106479705
6 FBN1 p.Ala1728Thr VAR_066536 rs387906624
7 FBN1 p.Ser1750Arg VAR_066540 rs113169205
8 FBN1 p.Asp1758Val VAR_066541

Expression for Acromicric Dysplasia

Search GEO for disease gene expression data for Acromicric Dysplasia.

Pathways for Acromicric Dysplasia

Pathways related to Acromicric Dysplasia according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS17
2
Show member pathways
12.87 TBRG1 LTBP3 LTBP2 LTBP1 FBN3 FBN2
3
Show member pathways
12.53 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
4
Show member pathways
12.43 TBRG1 LTBP3 LTBP2 LTBP1
5
Show member pathways
12.13 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS17
6
Show member pathways
12.12 TBRG1 LTBP3 LTBP2 LTBP1
7
Show member pathways
12.01 TBRG1 LTBP3 LTBP2 LTBP1
8
Show member pathways
11.66 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS17
9 11.61 THSD4 LTBP1 FBN1
10
Show member pathways
11.6 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
11 11.47 TBRG1 LTBP3 LTBP2 LTBP1
12
Show member pathways
11.05 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS17
13 10.95 LTBP2 LTBP1 FBN3 FBN2 FBN1
14 10.82 TBRG1 LTBP3 LTBP2 LTBP1 FBN3 FBN2

GO Terms for Acromicric Dysplasia

Cellular components related to Acromicric Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.1 THSD4 PAPLN LTBP3 LTBP2 LTBP1 FBN3
2 collagen-containing extracellular matrix GO:0062023 9.81 THSD4 LTBP3 LTBP2 LTBP1 FBN3 FBN2
3 endoplasmic reticulum lumen GO:0005788 9.62 LTBP1 FBN1 ADAMTSL4 ADAMTSL1
4 extracellular matrix GO:0031012 9.44 THSD4 PAPLN LTBP2 LTBP1 FBN3 FBN2
5 microfibril GO:0001527 9.35 THSD4 LTBP1 FBN2 FBN1 ADAMTS10

Biological processes related to Acromicric Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.56 THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
2 anatomical structure morphogenesis GO:0009653 9.54 FBN3 FBN2 FBN1
3 sequestering of TGFbeta in extracellular matrix GO:0035583 9.33 LTBP1 FBN2 FBN1
4 elastic fiber assembly GO:0048251 9.32 THSD4 LTBP3
5 extracellular matrix organization GO:0030198 9.32 THSD4 PAPLN FBN2 FBN1 ADAMTSL4 ADAMTSL3
6 embryonic eye morphogenesis GO:0048048 9.26 FBN2 FBN1

Molecular functions related to Acromicric Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.73 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
2 growth factor binding GO:0019838 9.5 LTBP3 LTBP2 LTBP1
3 extracellular matrix structural constituent GO:0005201 9.43 THSD4 LTBP2 LTBP1 FBN3 FBN2 FBN1
4 transforming growth factor beta binding GO:0050431 9.4 LTBP3 LTBP1
5 extracellular matrix constituent conferring elasticity GO:0030023 9.37 FBN2 FBN1
6 microfibril binding GO:0050436 9.33 LTBP2 LTBP1 ADAMTSL2
7 metalloendopeptidase activity GO:0004222 9.23 THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1

Sources for Acromicric Dysplasia

3 CDC
7 CNVD
9 Cosmic
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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
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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