MCID: ACR043
MIFTS: 37

Acromicric Dysplasia

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Acromicric Dysplasia

MalaCards integrated aliases for Acromicric Dysplasia:

Name: Acromicric Dysplasia 53 72 49 24 71 28 13 69
Acmicd 53 24 71
Acromicric Skeletal Dysplasia 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
acromicric dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acromicric Dysplasia

OMIM : 53 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 dysplasia 1, and has symptoms including joint stiffness, abnormality of epiphysis morphology and delayed skeletal maturation. An important gene associated with Acromicric Dysplasia is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include bone and skin, and related phenotype is craniofacial.

UniProtKB/Swiss-Prot : 71 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 : 49 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. Last updated: 1/30/2012

Genetics Home Reference : 24 Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.

Wikipedia : 72 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 29.3 FBN1 LTBP3
2 geleophysic dysplasia 1 10.2
3 geleophysic dysplasia 2 10.2
4 carpal tunnel syndrome 9.9
5 dwarfism with stiff joints and ocular abnormalities 9.9
6 mononeuropathy of the median nerve, mild 9.9

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:

53
Skin Nails Hair Skin:
thick skin

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

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

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


Clinical features from OMIM:

102370

Human phenotypes related to Acromicric Dysplasia:

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

UMLS symptoms related to Acromicric Dysplasia:


thick skin, hoarseness

MGI Mouse Phenotypes related to Acromicric Dysplasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.62 FBN1 LTBP3

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 28 FBN1

Anatomical Context for Acromicric Dysplasia

MalaCards organs/tissues related to Acromicric Dysplasia:

38
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:

71
# 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 all 11)
# 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.5096A> G (p.Tyr1699Cys) single nucleotide variant Pathogenic rs387906622 GRCh37 Chromosome 15, 48755407: 48755407
3 FBN1 NM_000138.4(FBN1): c.5182G> A (p.Ala1728Thr) single nucleotide variant Pathogenic rs387906624 GRCh37 Chromosome 15, 48755321: 48755321
4 FBN1 NM_000138.4(FBN1): c.5250T> G (p.Ser1750Arg) single nucleotide variant Pathogenic rs1131692052 GRCh37 Chromosome 15, 48752489: 48752489
5 FBN1 NM_000138.4(FBN1): c.5099A> G (p.Tyr1700Cys) single nucleotide variant Pathogenic rs387906626 GRCh37 Chromosome 15, 48755404: 48755404
6 FBN1 NM_000138.4(FBN1): c.5202_5204dupACA (p.Gln1735_Cys1736insGln) duplication Pathogenic rs587776863 GRCh38 Chromosome 15, 48463102: 48463104
7 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
8 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
9 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
10 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
11 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949

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
12.15 FBN1 LTBP3
2
Show member pathways
11.61 FBN1 LTBP3
3
Show member pathways
10.49 FBN1 LTBP3
4 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 8.62 FBN1 LTBP3

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 8.62 FBN1 LTBP3

Sources for Acromicric Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....