ACMICD
MCID: ACR043
MIFTS: 35

Acromicric Dysplasia (ACMICD)

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Acromicric Dysplasia

MalaCards integrated aliases for Acromicric Dysplasia:

Name: Acromicric Dysplasia 57 76 53 25 75 29 13 6 73
Acmicd 57 25 75
Acromicric Skeletal Dysplasia 53
Dysplasia, Acromicric 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
acromicric dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acromicric Dysplasia

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 (614185) and the autosomal dominant form of Weill-Marchesani syndrome (608328). (102370)

MalaCards based summary : Acromicric Dysplasia, also known as acmicd, is related to geleophysic dysplasia and geleophysic dwarfism, 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 Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include bone and skin, and related phenotypes are abnormality of epiphysis morphology and delayed skeletal maturation

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

Genetics Home Reference : 25 Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 geleophysic dysplasia 28.1 FBN1 LOC105370809 LTBP3
2 geleophysic dwarfism 11.4
3 geleophysic dysplasia 1 10.2
4 geleophysic dysplasia 2 10.2
5 carpal tunnel syndrome 9.9
6 dwarfism with stiff joints and ocular abnormalities 9.9
7 mononeuropathy of the median nerve, mild 9.9
8 mass syndrome 9.1 FBN1 LOC105370809
9 stiff skin syndrome 8.9 FBN1 LOC105370809

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



Diseases related to Acromicric Dysplasia

Symptoms & Phenotypes for Acromicric Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
long philtrum
round face
prominent philtrum
mild facial anomalies

Head And Neck Nose:
bulbous nose
anteverted nostrils

Head And Neck Eyes:
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

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

Skeletal Spine:
ovoid vertebral bodies

Voice:
hoarse voice

Skin Nails Hair Hair:
long eyelashes
well-defined eyebrows

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

Skin Nails Hair Skin:
thick skin


Clinical features from OMIM:

102370

Human phenotypes related to Acromicric Dysplasia:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 abnormality of epiphysis morphology 32 occasional (7.5%) HP:0005930
2 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
3 joint stiffness 32 occasional (7.5%) HP:0001387
4 short nose 32 hallmark (90%) HP:0003196
5 anteverted nares 32 hallmark (90%) HP:0000463
6 long philtrum 32 hallmark (90%) HP:0000343
7 thick lower lip vermilion 32 frequent (33%) HP:0000179
8 ovoid vertebral bodies 32 occasional (7.5%) HP:0003300
9 short palm 32 hallmark (90%) HP:0004279
10 cone-shaped epiphysis 32 HP:0010579
11 short long bone 32 HP:0003026
12 short foot 32 HP:0001773
13 decreased nerve conduction velocity 32 frequent (33%) HP:0000762
14 small hand 32 hallmark (90%) HP:0200055
15 abnormality of femur morphology 32 occasional (7.5%) HP:0002823
16 narrow mouth 32 frequent (33%) HP:0000160
17 brachydactyly 32 hallmark (90%) HP:0001156
18 round face 32 hallmark (90%) HP:0000311
19 bulbous nose 32 frequent (33%) HP:0000414
20 deep philtrum 32 HP:0002002
21 thickened skin 32 HP:0001072
22 severe short stature 32 hallmark (90%) HP:0003510
23 hoarse voice 32 occasional (7.5%) HP:0001609
24 long eyelashes 32 hallmark (90%) HP:0000527
25 short metacarpal 32 occasional (7.5%) HP:0010049
26 short phalanx of finger 32 HP:0009803
27 fifth metacarpal with ulnar notch 32 occasional (7.5%) HP:0005900
28 abnormal eyebrow morphology 32 hallmark (90%) HP:0000534

UMLS symptoms related to Acromicric Dysplasia:


hoarseness, thick skin

Drugs & Therapeutics for Acromicric Dysplasia

Search Clinical Trials , NIH Clinical Center for 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:

41
Bone, Skin

Publications for Acromicric Dysplasia

Articles related to Acromicric Dysplasia:

# Title Authors Year
1
Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment. ( 27834076 )
2017
2
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. ( 27245183 )
2016
3
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. ( 27068007 )
2016
4
Orthopedics management of acromicric dysplasia: Follow up of nine patients. ( 24339047 )
2014
5
Bilateral carpal tunnel syndrome in a 9-year-old boy with acromicric dysplasia. ( 23027497 )
2012
6
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. ( 11694546 )
2001
7
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ( 8777926 )
1996
8
Moore-Federman syndrome and acromicric dysplasia: are they the same entity? ( 2732993 )
1989
9
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ( 3130853 )
1987
10
Acromicric dysplasia. ( 3728563 )
1986

Variations for Acromicric Dysplasia

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

75
# 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

ClinVar genetic disease variations for Acromicric Dysplasia:

6
(show top 50) (show all 270)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
2 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
3 FBN1 NM_000138.4(FBN1): c.5096A> G (p.Tyr1699Cys) single nucleotide variant Pathogenic rs387906622 GRCh37 Chromosome 15, 48755407: 48755407
4 FBN1 NM_000138.4(FBN1): c.5096A> G (p.Tyr1699Cys) single nucleotide variant Pathogenic rs387906622 GRCh38 Chromosome 15, 48463210: 48463210
5 FBN1 NM_000138.4(FBN1): c.5284G> A (p.Gly1762Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387906623 GRCh37 Chromosome 15, 48752455: 48752455
6 FBN1 NM_000138.4(FBN1): c.5284G> A (p.Gly1762Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387906623 GRCh38 Chromosome 15, 48460258: 48460258
7 FBN1 NM_000138.4(FBN1): c.5182G> A (p.Ala1728Thr) single nucleotide variant Pathogenic rs387906624 GRCh37 Chromosome 15, 48755321: 48755321
8 FBN1 NM_000138.4(FBN1): c.5182G> A (p.Ala1728Thr) single nucleotide variant Pathogenic rs387906624 GRCh38 Chromosome 15, 48463124: 48463124
9 FBN1 NM_000138.4(FBN1): c.5250T> G (p.Ser1750Arg) single nucleotide variant Pathogenic rs1131692052 GRCh37 Chromosome 15, 48752489: 48752489
10 FBN1 NM_000138.4(FBN1): c.5250T> G (p.Ser1750Arg) single nucleotide variant Pathogenic rs1131692052 GRCh38 Chromosome 15, 48460292: 48460292
11 FBN1 NM_000138.4(FBN1): c.5099A> G (p.Tyr1700Cys) single nucleotide variant Pathogenic rs387906626 GRCh37 Chromosome 15, 48755404: 48755404
12 FBN1 NM_000138.4(FBN1): c.5099A> G (p.Tyr1700Cys) single nucleotide variant Pathogenic rs387906626 GRCh38 Chromosome 15, 48463207: 48463207
13 FBN1 NM_000138.4(FBN1): c.5202_5204dupACA (p.Gln1735_Cys1736insGln) duplication Pathogenic rs587776863 GRCh38 Chromosome 15, 48463102: 48463104
14 FBN1 NM_000138.4(FBN1): c.5202_5204dupACA (p.Gln1735_Cys1736insGln) duplication Pathogenic rs587776863 GRCh37 Chromosome 15, 48755299: 48755301
15 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
16 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
17 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
18 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
19 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
20 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
21 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
22 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
23 FBN1 NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn) single nucleotide variant Uncertain significance rs587782945 GRCh38 Chromosome 15, 48472574: 48472574
24 FBN1 NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn) single nucleotide variant Uncertain significance rs587782945 GRCh37 Chromosome 15, 48764771: 48764771
25 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh37 Chromosome 15, 48812976: 48812976
26 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh38 Chromosome 15, 48520779: 48520779
27 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
28 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
29 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh38 Chromosome 15, 48463254: 48463254
30 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh37 Chromosome 15, 48755451: 48755451
31 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh37 Chromosome 15, 48936888: 48936888
32 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh38 Chromosome 15, 48644691: 48644691
33 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh38 Chromosome 15, 48412610: 48412610
34 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh37 Chromosome 15, 48704807: 48704807
35 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh38 Chromosome 15, 48427673: 48427673
36 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh37 Chromosome 15, 48719870: 48719870
37 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Benign/Likely benign rs202158568 GRCh37 Chromosome 15, 48737570: 48737570
38 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Benign/Likely benign rs202158568 GRCh38 Chromosome 15, 48445373: 48445373
39 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh37 Chromosome 15, 48773926: 48773926
40 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh38 Chromosome 15, 48481729: 48481729
41 FBN1 NM_000138.4(FBN1): c.2678-12T> C single nucleotide variant Benign/Likely benign rs200368037 GRCh38 Chromosome 15, 48494266: 48494266
42 FBN1 NM_000138.4(FBN1): c.2678-12T> C single nucleotide variant Benign/Likely benign rs200368037 GRCh37 Chromosome 15, 48786463: 48786463
43 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh38 Chromosome 15, 48526216: 48526216
44 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh37 Chromosome 15, 48818413: 48818413
45 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 GRCh37 Chromosome 15, 48729599: 48729599
46 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 GRCh38 Chromosome 15, 48437402: 48437402
47 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 GRCh37 Chromosome 15, 48704843: 48704843
48 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 GRCh38 Chromosome 15, 48412646: 48412646
49 FBN1 NM_000138.4(FBN1): c.3936C> T (p.Ser1312=) single nucleotide variant Likely benign rs779913610 GRCh37 Chromosome 15, 48773880: 48773880
50 FBN1 NM_000138.4(FBN1): c.3936C> T (p.Ser1312=) single nucleotide variant Likely benign rs779913610 GRCh38 Chromosome 15, 48481683: 48481683

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 FBN1 LTBP3
2
Show member pathways
10.49 FBN1 LTBP3

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 matrix GO:0031012 8.62 FBN1 LTBP3

Sources for Acromicric Dysplasia

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
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