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 56 12 74 52 25 58 73 36 29 13 6 43 15 71
Acmicd 56 12 25 73
Acromicric Skeletal Dysplasia 12 52
Dysplasia, Acromicric 39

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 102370
KEGG 36 H02228
SNOMED-CT 67 254090007
MESH via Orphanet 44 C535662
ICD10 via Orphanet 33 Q77.8
UMLS via Orphanet 72 C0265287
Orphanet 58 ORPHA969
UMLS 71 C0265287

Summaries for Acromicric Dysplasia

Genetics Home Reference : 25 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 ERK Signaling and HIV Life Cycle. 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.

NIH Rare Diseases : 52 Acromicric dysplasia is a rare type of skeletal dysplasia characterized by abnormal bone growth. Signs and symptoms include short stature , short hands and feet, mildly distinctive facial features, characteristic X-ray abnormalities of the hands, and other features that occasionally occur. Intelligence is normal. It has recently been found to be caused by mutations in the FBN1 gene and is inherited in an autosomal dominant manner. The prognosis for affected individuals is good; no major complications appear to occur in affected individuals and life expectancy is normal.

OMIM : 56 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)

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 : 73 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 : 74 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 51)
# Related Disease Score Top Affiliating Genes
1 geleophysic dysplasia 3 30.1 TBRG1 LTBP3 LTBP2 ADAMTSL2
2 geleophysic dysplasia 2 29.9 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
3 brachydactyly 29.3 LTBP2 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
4 stiff skin syndrome 28.5 TBRG1 LTBP3 LTBP2 LOC113939944 FBN2 FBN1
5 geleophysic dysplasia 26.8 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
6 weill-marchesani syndrome 24.4 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
7 carpal tunnel syndrome 10.4
8 aortic aneurysm, familial thoracic 2 10.3 FBN2 FBN1
9 tricuspid valve prolapse 10.3 FBN2 FBN1
10 autosomal recessive cutis laxa type i 10.3 LTBP3 FBN1
11 dwarfism with stiff joints and ocular abnormalities 10.3
12 acromelic dysplasia 10.3
13 marden-walker syndrome 10.3 FBN2 FBN1
14 postural orthostatic tachycardia syndrome 10.3 FBN2 FBN1
15 isolated microspherophakia 10.3 LTBP2 ADAMTS10
16 weill-marchesani syndrome 1 10.2 LTBP2 ADAMTS10
17 cutis laxa, autosomal recessive, type ic 10.2 LTBP3 LTBP2
18 hydrophthalmos 10.2 LTBP3 LTBP2
19 familial thoracic aortic aneurysm and aortic dissection 10.2 LOC113939944 FBN2 FBN1
20 juvenile glaucoma 10.1 LTBP3 LTBP2
21 myhre syndrome 10.1
22 autosomal recessive disease 10.1
23 respiratory failure 10.1
24 mitral valve insufficiency 10.1
25 patent foramen ovale 10.1
26 hemophilia 10.1
27 dwarfism 10.1
28 loeys-dietz syndrome 10.1 LOC113939944 FBN2 FBN1
29 iris disease 10.1 LTBP3 LTBP2 FBN1
30 brachyolmia 10.1 LTBP3 LTBP2
31 sulfite oxidase deficiency, isolated 10.1 ADAMTSL4 ADAMTS10
32 camurati-engelmann disease 10.1 LTBP3 LTBP2
33 contractural arachnodactyly, congenital 10.0 FBN2 FBN1
34 primary congenital glaucoma 9.9 LTBP3 LTBP2 FBN1 ADAMTS10
35 phacogenic glaucoma 9.8 LTBP3 LTBP2 LTBP1 FBN1
36 geleophysic dysplasia 1 9.8 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
37 tracheal disease 9.8 TBRG1 FBN1 ADAMTSL2 ADAMTS17 ADAMTS10
38 distal arthrogryposis 9.7 FBN3 FBN2 FBN1
39 odontochondrodysplasia 9.7 TBRG1 FBN1 ADAMTSL2
40 glaucoma, primary open angle 9.7 LTBP3 LTBP2 FBN1 ADAMTS17 ADAMTS10
41 myopia 9.6 LTBP2 FBN2 FBN1 ADAMTS17 ADAMTS10
42 lens subluxation 9.6 LTBP2 FBN1 ADAMTSL4 ADAMTS17 ADAMTS10
43 glaucoma 3, primary congenital, a 9.6 LTBP3 LTBP2 ADAMTSL4 ADAMTS17 ADAMTS10
44 aortic aneurysm, familial thoracic 1 9.6 LTBP3 LTBP2 LTBP1 FBN2 FBN1
45 ectopia lentis 1, isolated, autosomal dominant 9.5 THSD4 FBN1 ADAMTSL4 ADAMTS10
46 ectopia lentis 2, isolated, autosomal recessive 9.5 THSD4 FBN1 ADAMTSL4 ADAMTS10
47 megalocornea 9.4 LTBP3 LTBP2 LTBP1 FBN1 ADAMTS17 ADAMTS10
48 tracheal stenosis 9.3 TBRG1 LTBP3 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17
49 marfan syndrome 8.6 THSD4 LTBP2 LTBP1 LOC113939944 FBN3 FBN2
50 peters-plus syndrome 7.6 THSD4 PAPLN LTBP3 LTBP2 ADAMTSL4 ADAMTSL3

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 thickened skin 31 HP:0001072
24 deep philtrum 31 HP:0002002
25 abnormality of the eyebrow 58 Very frequent (99-80%)
26 short foot 31 HP:0001773
27 cone-shaped epiphysis 31 HP:0010579
28 short phalanx of finger 31 HP:0009803
29 short long bone 31 HP:0003026

Symptoms via clinical synopsis from OMIM:

56
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

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 29)
# Title Authors PMID Year
1
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 61 56
21683322 2011
2
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. 56 61
11694546 2001
3
Acromicric dysplasia. 61 56
3728563 1986
4
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. 56
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
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
8
Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders. 61
30887145 2019
9
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. 61
29191498 2018
10
Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment. 61
27834076 2017
11
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. 61
27935852 2017
12
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 61
27068007 2016
13
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review. 61
26875674 2016
14
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 61
27245183 2016
15
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
16
Children with short-limbed short stature in pediatric endocrinological services in Japan. 61
25244068 2014
17
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia. 61
25142510 2014
18
Orthopedics management of acromicric dysplasia: follow up of nine patients. 61
24339047 2014
19
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. 61
24214363 2013
20
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 61
23897642 2013
21
Bilateral carpal tunnel syndrome in a 9-year-old boy with acromicric dysplasia. 61
23027497 2012
22
From tall to short: the role of TGFβ signaling in growth and its disorders. 61
22791552 2012
23
Genetic and molecular aspects of acromelic dysplasia. 61
19396027 2009
24
Subglottic stenosis in short-statured children: a case for further investigation of airway symptoms in patients with skeletal dysplasias. 61
16105694 2006
25
[Acromicric dysplasia]. 61
11462371 2001
26
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. 61
8777926 1996
27
[The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type]. 61
7493737 1995
28
Moore-Federman syndrome and acromicric dysplasia: are they the same entity? 61
2732993 1989
29
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 286) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.5096A>G (p.Tyr1699Cys)SNV Pathogenic 29696 rs387906622 15:48755407-48755407 15:48463210-48463210
2 FBN1 NM_000138.4(FBN1):c.5182G>A (p.Ala1728Thr)SNV Pathogenic 29698 rs387906624 15:48755321-48755321 15:48463124-48463124
3 FBN1 NM_000138.4(FBN1):c.5250T>G (p.Ser1750Arg)SNV Pathogenic 29700 rs1131692052 15:48752489-48752489 15:48460292-48460292
4 FBN1 NM_000138.4(FBN1):c.5099A>G (p.Tyr1700Cys)SNV Pathogenic 29701 rs387906626 15:48755404-48755404 15:48463207-48463207
5 FBN1 NM_000138.4(FBN1):c.5202_5204dup (p.Gln1735dup)duplication Pathogenic 29702 rs587776863 15:48755298-48755299 15:48463101-48463102
6 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter)SNV Pathogenic 265401 rs140583 15:48787416-48787416 15:48495219-48495219
7 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
8 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
9 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)SNV Pathogenic 36082 rs113871094 15:48758017-48758017 15:48465820-48465820
10 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs)deletion Pathogenic 625943 rs1566911957 15:48788401-48788411 15:48496204-48496214
11 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg)SNV Pathogenic/Likely pathogenic 457162 rs1555400373 15:48807590-48807590 15:48515393-48515393
12 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg)SNV Pathogenic/Likely pathogenic 439708 rs113543334 15:48725141-48725141 15:48432944-48432944
13 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)SNV Pathogenic/Likely pathogenic 36078 rs111401431 15:48760294-48760294 15:48468097-48468097
14 FBN1 NM_000138.4(FBN1):c.4460-8G>ASNV Pathogenic/Likely pathogenic 36075 rs193922204 15:48760739-48760739 15:48468542-48468542
15 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)SNV Pathogenic/Likely pathogenic 16461 rs137854480 15:48829826-48829826 15:48537629-48537629
16 FBN1 NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys)SNV Pathogenic/Likely pathogenic 36042 rs193922185 15:48797234-48797234 15:48505037-48505037
17 FBN1 NM_000138.5(FBN1):c.1468+5G>ASNV Pathogenic/Likely pathogenic 42284 rs397515757 15:48807579-48807579 15:48515382-48515382
18 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)SNV Pathogenic/Likely pathogenic 36107 rs193922228 15:48722933-48722933 15:48430736-48430736
19 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)SNV Pathogenic/Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
20 FBN1 NM_000138.4(FBN1):c.2645C>T (p.Ala882Val)SNV Pathogenic/Likely pathogenic 200001 rs794728195 15:48787352-48787352 15:48495155-48495155
21 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys)SNV Pathogenic/Likely pathogenic 200191 rs794728334 15:48729266-48729266 15:48437069-48437069
22 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys)SNV Pathogenic/Likely pathogenic 264272 rs111984349 15:48707956-48707956 15:48415759-48415759
23 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser)SNV Pathogenic/Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
24 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)duplication Likely pathogenic 828001 15:48902952-48902953 15:48610755-48610756
25 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser)SNV Likely pathogenic 495590 rs397515791 15:48779559-48779559 15:48487362-48487362
26 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe)SNV Likely pathogenic 549204 rs1555397718 15:48766763-48766763 15:48474566-48474566
27 FBN1 NM_000138.4(FBN1):c.5546-1G>ASNV Likely pathogenic 626102 rs1566899590 15:48741091-48741091 15:48448894-48448894
28 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter)SNV Likely pathogenic 626100 rs71467648 15:48730095-48730095 15:48437898-48437898
29 FBN1 NM_000138.5(FBN1):c.*2045G>ASNV Conflicting interpretations of pathogenicity 884619 15:48701142-48701142 15:48408945-48408945
30 FBN1 NM_000138.4(FBN1):c.5826C>A (p.Cys1942Ter)SNV Conflicting interpretations of pathogenicity 547334 rs363806 15:48737664-48737664 15:48445467-48445467
31 FBN1 NM_000138.4(FBN1):c.7820-4G>ASNV Conflicting interpretations of pathogenicity 514647 rs750036723 15:48707968-48707968 15:48415771-48415771
32 FBN1 NM_000138.4(FBN1):c.3337+11G>ASNV Conflicting interpretations of pathogenicity 316378 rs368726848 15:48780299-48780299 15:48488102-48488102
33 FBN1 NM_000138.4(FBN1):c.396T>C (p.Asp132=)SNV Conflicting interpretations of pathogenicity 316392 rs147481356 15:48892382-48892382 15:48600185-48600185
34 FBN1 NM_000138.4(FBN1):c.538+4A>GSNV Conflicting interpretations of pathogenicity 316391 rs375721252 15:48888476-48888476 15:48596279-48596279
35 FBN1 NM_000138.4(FBN1):c.4211-10C>TSNV Conflicting interpretations of pathogenicity 457205 rs28730793 15:48764883-48764883 15:48472686-48472686
36 FBN1 NM_000138.4(FBN1):c.7560G>A (p.Thr2520=)SNV Conflicting interpretations of pathogenicity 457263 rs760425899 15:48714159-48714159 15:48421962-48421962
37 FBN1 NM_000138.4(FBN1):c.2950G>A (p.Val984Ile)SNV Conflicting interpretations of pathogenicity 457184 rs747713929 15:48782180-48782180 15:48489983-48489983
38 FBN1 NM_000138.4(FBN1):c.7516G>A (p.Gly2506Ser)SNV Conflicting interpretations of pathogenicity 457262 rs756295016 15:48714203-48714203 15:48422006-48422006
39 FBN1 NM_000138.4(FBN1):c.3740A>T (p.Asn1247Ile)SNV Conflicting interpretations of pathogenicity 316376 rs568625812 15:48776113-48776113 15:48483916-48483916
40 FBN1 NM_000138.4(FBN1):c.5724A>G (p.Thr1908=)SNV Conflicting interpretations of pathogenicity 316371 rs141219664 15:48738967-48738967 15:48446770-48446770
41 FBN1 NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)SNV Conflicting interpretations of pathogenicity 316364 rs199522781 15:48713793-48713793 15:48421596-48421596
42 FBN1 NM_000138.4(FBN1):c.*1580G>ASNV Conflicting interpretations of pathogenicity 316328 rs17352989 15:48701607-48701607 15:48409410-48409410
43 FBN1 NM_000138.4(FBN1):c.*1949T>CSNV Conflicting interpretations of pathogenicity 316320 rs534577080 15:48701238-48701238 15:48409041-48409041
44 FBN1 NM_000138.4(FBN1):c.*2024A>GSNV Conflicting interpretations of pathogenicity 316316 rs558488257 15:48701163-48701163 15:48408966-48408966
45 FBN1 NM_000138.4(FBN1):c.*2395G>ASNV Conflicting interpretations of pathogenicity 316306 rs184719603 15:48700792-48700792 15:48408595-48408595
46 FBN1 NM_000138.4(FBN1):c.4321G>A (p.Gly1441Arg)SNV Conflicting interpretations of pathogenicity 495607 rs372118067 15:48764763-48764763 15:48472566-48472566
47 FBN1 NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)SNV Conflicting interpretations of pathogenicity 36104 rs112084407 15:48725102-48725102 15:48432905-48432905
48 FBN1 NM_000138.5(FBN1):c.510C>T (p.Tyr170=)SNV Conflicting interpretations of pathogenicity 36086 rs111671429 15:48888508-48888508 15:48596311-48596311
49 FBN1 NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)SNV Conflicting interpretations of pathogenicity 36133 rs12324002 15:48818329-48818329 15:48526132-48526132
50 FBN1 NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)SNV Conflicting interpretations of pathogenicity 36132 rs363847 15:48703301-48703301 15:48411104-48411104

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

73
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Tyr1699Cys VAR_066528
2 FBN1 p.Tyr1700Cys VAR_066530
3 FBN1 p.Met1714Arg VAR_066532
4 FBN1 p.Ser1722Cys VAR_066534
5 FBN1 p.Gly1726Val VAR_066535
6 FBN1 p.Ala1728Thr VAR_066536
7 FBN1 p.Ser1750Arg VAR_066540
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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 TBRG1 LTBP3 LTBP2 LTBP1 FBN3 FBN2
2
Show member pathways
13.45 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS17
3
Show member pathways
12.87 TBRG1 LTBP3 LTBP2 LTBP1 FBN3 FBN2
4
Show member pathways
12.53 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
5
Show member pathways
12.43 TBRG1 LTBP3 LTBP2 LTBP1
6
Show member pathways
12.13 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS17
7
Show member pathways
12.12 TBRG1 LTBP3 LTBP2 LTBP1
8
Show member pathways
12.01 TBRG1 LTBP3 LTBP2 LTBP1
9
Show member pathways
11.66 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS17
10 11.61 THSD4 LTBP1 FBN1
11
Show member pathways
11.6 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
12 11.47 TBRG1 LTBP3 LTBP2 LTBP1
13
Show member pathways
11.05 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS17
14 10.95 LTBP2 LTBP1 FBN3 FBN2 FBN1
15 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 THSD4 PAPLN LTBP3 LTBP2 LTBP1 FBN3
2 collagen-containing extracellular matrix GO:0062023 9.86 THSD4 LTBP3 LTBP2 LTBP1 FBN2 FBN1
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 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS17
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 9.8 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
2 peptidase activity GO:0008233 9.76 THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
3 growth factor binding GO:0019838 9.54 LTBP3 LTBP2 LTBP1
4 transforming growth factor beta binding GO:0050431 9.43 LTBP3 LTBP1
5 microfibril binding GO:0050436 9.43 LTBP2 LTBP1 ADAMTSL2
6 extracellular matrix structural constituent GO:0005201 9.43 THSD4 LTBP2 LTBP1 FBN3 FBN2 FBN1
7 extracellular matrix constituent conferring elasticity GO:0030023 9.4 FBN2 FBN1
8 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....