ACMICD
MCID: ACR043
MIFTS: 34

Acromicric Dysplasia (ACMICD)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Acromicric Dysplasia

MalaCards integrated aliases for Acromicric Dysplasia:

Name: Acromicric Dysplasia 58 77 54 26 76 38 30 13 6 74
Acmicd 58 26 76
Acromicric Skeletal Dysplasia 54
Dysplasia, Acromicric 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
acromicric dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acromicric Dysplasia

OMIM : 58 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)

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 short nose and anteverted nares

Genetics Home Reference : 26 Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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 : 77 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 all 11)
# Related Disease Score Top Affiliating Genes
1 geleophysic dysplasia 29.5 FBN1 LOC105370809 LTBP3
2 geleophysic dwarfism 11.6
3 geleophysic dysplasia 1 10.3
4 geleophysic dysplasia 2 10.3
5 carpal tunnel syndrome 10.1
6 dwarfism with stiff joints and ocular abnormalities 10.1
7 mononeuropathy of the median nerve, mild 10.1
8 geleophysic dysplasia 3 10.1
9 mass syndrome 9.6 FBN1 LOC105370809
10 tracheal stenosis 9.6 FBN1 LTBP3
11 stiff skin syndrome 9.6 FBN1 LOC105370809

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:

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

Symptoms via clinical synopsis from OMIM:

58
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

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

Skeletal Spine:
ovoid vertebral bodies

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

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 30 FBN1

Anatomical Context for Acromicric Dysplasia

MalaCards organs/tissues related to Acromicric Dysplasia:

42
Bone, Skin

Publications for Acromicric Dysplasia

Articles related to Acromicric Dysplasia:

(show all 12)
# Title Authors Year
1
Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment. ( 27834076 )
2017
2
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. ( 27068007 )
2016
3
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. ( 27245183 )
2016
4
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. ( 25979247 )
2015
5
Orthopedics management of acromicric dysplasia: follow up of nine patients. ( 24339047 )
2014
6
Bilateral carpal tunnel syndrome in a 9-year-old boy with acromicric dysplasia. ( 23027497 )
2012
7
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. ( 11694546 )
2001
8
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ( 8777926 )
1996
9
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. ( 1852206 )
1991
10
Moore-Federman syndrome and acromicric dysplasia: are they the same entity? ( 2732993 )
1989
11
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ( 3130853 )
1987
12
Acromicric dysplasia. ( 3728563 )
1986

Variations for Acromicric Dysplasia

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

76
# 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 424)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh37 Chromosome 15, 48704816: 48704816
2 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh38 Chromosome 15, 48412619: 48412619
3 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh37 Chromosome 15, 48779352: 48779352
4 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh38 Chromosome 15, 48487155: 48487155
5 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
6 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh37 Chromosome 15, 48800870: 48800870
7 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh38 Chromosome 15, 48508673: 48508673
8 FBN1 NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922185 GRCh37 Chromosome 15, 48797234: 48797234
9 FBN1 NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922185 GRCh38 Chromosome 15, 48505037: 48505037
10 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh37 Chromosome 15, 48782174: 48782174
11 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh38 Chromosome 15, 48489977: 48489977
12 FBN1 NM_000138.4(FBN1): c.3675G> A (p.Pro1225=) single nucleotide variant Benign/Likely benign rs148147223 GRCh37 Chromosome 15, 48777608: 48777608
13 FBN1 NM_000138.4(FBN1): c.3675G> A (p.Pro1225=) single nucleotide variant Benign/Likely benign rs148147223 GRCh38 Chromosome 15, 48485411: 48485411
14 FBN1 NM_000138.4(FBN1): c.3965-8T> C single nucleotide variant Benign/Likely benign rs140637 GRCh37 Chromosome 15, 48766855: 48766855
15 FBN1 NM_000138.4(FBN1): c.3965-8T> C single nucleotide variant Benign/Likely benign rs140637 GRCh38 Chromosome 15, 48474658: 48474658
16 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh37 Chromosome 15, 48762849: 48762849
17 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
18 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
19 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
20 FBN1 NM_000138.4(FBN1): c.4905C> G (p.Thr1635=) single nucleotide variant Benign/Likely benign rs113115949 GRCh37 Chromosome 15, 48757802: 48757802
21 FBN1 NM_000138.4(FBN1): c.4905C> G (p.Thr1635=) single nucleotide variant Benign/Likely benign rs113115949 GRCh38 Chromosome 15, 48465605: 48465605
22 FBN1 NM_000138.4(FBN1): c.510C> T (p.Tyr170=) single nucleotide variant Conflicting interpretations of pathogenicity rs111671429 GRCh37 Chromosome 15, 48888508: 48888508
23 FBN1 NM_000138.4(FBN1): c.510C> T (p.Tyr170=) single nucleotide variant Conflicting interpretations of pathogenicity rs111671429 GRCh38 Chromosome 15, 48596311: 48596311
24 FBN1 NM_000138.4(FBN1): c.6594C> T (p.Pro2198=) single nucleotide variant Benign/Likely benign rs111844882 GRCh37 Chromosome 15, 48726813: 48726813
25 FBN1 NM_000138.4(FBN1): c.6594C> T (p.Pro2198=) single nucleotide variant Benign/Likely benign rs111844882 GRCh38 Chromosome 15, 48434616: 48434616
26 FBN1 NM_000138.4(FBN1): c.6700G> A (p.Val2234Met) single nucleotide variant Conflicting interpretations of pathogenicity rs112084407 GRCh37 Chromosome 15, 48725102: 48725102
27 FBN1 NM_000138.4(FBN1): c.6700G> A (p.Val2234Met) single nucleotide variant Conflicting interpretations of pathogenicity rs112084407 GRCh38 Chromosome 15, 48432905: 48432905
28 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
29 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
30 FBN1 NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser) single nucleotide variant Benign/Likely benign rs363835 GRCh37 Chromosome 15, 48722907: 48722907
31 FBN1 NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser) single nucleotide variant Benign/Likely benign rs363835 GRCh38 Chromosome 15, 48430710: 48430710
32 FBN1 NM_000138.4(FBN1): c.8283A> T (p.Thr2761=) single nucleotide variant Benign/Likely benign rs146120912 GRCh37 Chromosome 15, 48703520: 48703520
33 FBN1 NM_000138.4(FBN1): c.8283A> T (p.Thr2761=) single nucleotide variant Benign/Likely benign rs146120912 GRCh38 Chromosome 15, 48411323: 48411323
34 FBN1 NM_000138.4(FBN1): c.83A> G (p.Asn28Ser) single nucleotide variant Uncertain significance rs193922245 GRCh37 Chromosome 15, 48936884: 48936884
35 FBN1 NM_000138.4(FBN1): c.83A> G (p.Asn28Ser) single nucleotide variant Uncertain significance rs193922245 GRCh38 Chromosome 15, 48644687: 48644687
36 FBN1 NM_000138.4(FBN1): c.8502T> C (p.Thr2834=) single nucleotide variant Benign/Likely benign rs363847 GRCh37 Chromosome 15, 48703301: 48703301
37 FBN1 NM_000138.4(FBN1): c.8502T> C (p.Thr2834=) single nucleotide variant Benign/Likely benign rs363847 GRCh38 Chromosome 15, 48411104: 48411104
38 FBN1 NM_000138.4(FBN1): c.986T> C (p.Ile329Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12324002 GRCh37 Chromosome 15, 48818329: 48818329
39 FBN1 NM_000138.4(FBN1): c.986T> C (p.Ile329Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12324002 GRCh38 Chromosome 15, 48526132: 48526132
40 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
41 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
42 FBN1 NM_000138.4(FBN1): c.156G> T (p.Ala52=) single nucleotide variant Benign rs25398 GRCh37 Chromosome 15, 48936811: 48936811
43 FBN1 NM_000138.4(FBN1): c.156G> T (p.Ala52=) single nucleotide variant Benign rs25398 GRCh38 Chromosome 15, 48644614: 48644614
44 FBN1 NM_000138.4(FBN1): c.164+5A> G single nucleotide variant Uncertain significance rs397515760 GRCh37 Chromosome 15, 48936798: 48936798
45 FBN1 NM_000138.4(FBN1): c.164+5A> G single nucleotide variant Uncertain significance rs397515760 GRCh38 Chromosome 15, 48644601: 48644601
46 FBN1 NM_000138.4(FBN1): c.1875T> C (p.Asn625=) single nucleotide variant Benign rs25458 GRCh37 Chromosome 15, 48797307: 48797307
47 FBN1 NM_000138.4(FBN1): c.1875T> C (p.Asn625=) single nucleotide variant Benign rs25458 GRCh38 Chromosome 15, 48505110: 48505110
48 FBN1 NM_000138.4(FBN1): c.2175T> C (p.Asn725=) single nucleotide variant Benign/Likely benign rs140606 GRCh37 Chromosome 15, 48789581: 48789581
49 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
50 FBN1 NM_000138.4(FBN1): c.4460-8G> A single nucleotide variant Pathogenic/Likely pathogenic rs193922204 GRCh38 Chromosome 15, 48468542: 48468542

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
3 10.06 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 8.32 FBN1

Sources for Acromicric Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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