AMD3
MCID: ACR129
MIFTS: 32

Acromesomelic Dysplasia 3 (AMD3)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Acromesomelic Dysplasia 3

MalaCards integrated aliases for Acromesomelic Dysplasia 3:

Name: Acromesomelic Dysplasia 3 57 73 28 5
Chondrodysplasia, Acromesomelic, with or Without Genital Anomalies 57 73
Acromesomelic Dysplasia, Demirhan Type 57 73
Amd3 57 73
Amdd 57 73
Acromesomelic Chondrodysplasia, with Genital Anomalies 73
Demirhan-Type Acromesomelic Dysplasia 11
Acromesomelic Dysplasia-3 11

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to brachydactyly, type a2


Classifications:



External Ids:

Disease Ontology 11 DOID:0081237
OMIM® 57 609441
OMIM Phenotypic Series 57 PS602875

Summaries for Acromesomelic Dysplasia 3

UniProtKB/Swiss-Prot: 73 A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD3 is an autosomal recessive form characterized by bilateral aplasia of the fibula, severe brachydactyly, and fusion of carpal and tarsal bones.

MalaCards based summary: Acromesomelic Dysplasia 3, also known as chondrodysplasia, acromesomelic, with or without genital anomalies, is related to brachydactyly, type a2 and brachydactyly. An important gene associated with Acromesomelic Dysplasia 3 is BMPR1B (Bone Morphogenetic Protein Receptor Type 1B). Affiliated tissues include bone, uterus and amygdala, and related phenotypes are delayed skeletal maturation and primary amenorrhea

Disease Ontology: 11 An acromesomelic dysplasia that has material basis in homozygous mutation in the BMPR1B gene on chromosome 4q22.

More information from OMIM: 609441 PS602875

Related Diseases for Acromesomelic Dysplasia 3

Diseases in the Acromesomelic Dysplasia family:

Acromesomelic Dysplasia 2a Acromesomelic Dysplasia 2c
Acromesomelic Dysplasia 2b Acromesomelic Dysplasia 1
Acromesomelic Dysplasia 3 Acromesomelic Dysplasia 4

Diseases related to Acromesomelic Dysplasia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly, type a2 10.3
2 brachydactyly 10.3
3 ovarian disease 10.3
4 hypogonadism 10.3
5 chondrodysplasia acromesomelic with genital anomalies 10.3

Graphical network of the top 20 diseases related to Acromesomelic Dysplasia 3:



Diseases related to Acromesomelic Dysplasia 3

Symptoms & Phenotypes for Acromesomelic Dysplasia 3

Human phenotypes related to Acromesomelic Dysplasia 3:

30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 30 Very rare (1%) HP:0002750
2 primary amenorrhea 30 Very rare (1%) HP:0000786
3 short toe 30 Very rare (1%) HP:0001831
4 brachydactyly 30 Very rare (1%) HP:0001156
5 hypoplasia of the ulna 30 Very rare (1%) HP:0003022
6 short 1st metacarpal 30 Very rare (1%) HP:0010034
7 disproportionate short-limb short stature 30 Very rare (1%) HP:0008873
8 broad foot 30 Very rare (1%) HP:0001769
9 hypergonadotropic hypogonadism 30 Very rare (1%) HP:0000815
10 bilateral talipes equinovarus 30 Very rare (1%) HP:0001776
11 fibular aplasia 30 Very rare (1%) HP:0002990
12 short phalanx of finger 30 Very rare (1%) HP:0009803
13 radial deviation of finger 30 Very rare (1%) HP:0009466
14 hypoplasia of the uterus 30 Very rare (1%) HP:0000013
15 carpal synostosis 30 Very rare (1%) HP:0009702
16 short femoral neck 30 Very rare (1%) HP:0100864
17 elevated circulating follicle stimulating hormone level 30 Very rare (1%) HP:0008232
18 elevated circulating luteinizing hormone level 30 Very rare (1%) HP:0011969
19 widened proximal tibial metaphyses 30 Very rare (1%) HP:0005028
20 tarsal synostosis 30 Very rare (1%) HP:0008368
21 aplasia of the proximal phalanx of the 2nd finger 30 Very rare (1%) HP:0009596
22 talipes equinovarus 30 HP:0001762
23 short finger 30 HP:0009381

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endocrine Features:
primary amenorrhea
hypergonadotropic hypogonadism

Skeletal Hands:
radially deviated fingers
carpal bone fusion
severe brachydactyly
hypoplastic phalanges (fingers 2-5)
absent proximal phalanges (finger 2)
more
Skeletal Pelvis:
short femoral necks

Genitourinary Internal Genitalia Female:
hypoplastic uterus (in some patients)
absent ovaries (in some patients)

Skeletal Limbs:
fibular aplasia
widened proximal tibial metaphyses
short ulna

Skeletal Feet:
clubfeet
short toes
tarsal bone fusion
small broad feet

Growth Height:
short limb dwarfism, disproportionate

Clinical features from OMIM®:

609441 (Updated 08-Dec-2022)

Drugs & Therapeutics for Acromesomelic Dysplasia 3

Search Clinical Trials, NIH Clinical Center for Acromesomelic Dysplasia 3

Genetic Tests for Acromesomelic Dysplasia 3

Genetic tests related to Acromesomelic Dysplasia 3:

# Genetic test Affiliating Genes
1 Acromesomelic Dysplasia 3 28 BMPR1B

Anatomical Context for Acromesomelic Dysplasia 3

Organs/tissues related to Acromesomelic Dysplasia 3:

MalaCards : Bone, Uterus, Amygdala

Publications for Acromesomelic Dysplasia 3

Articles related to Acromesomelic Dysplasia 3:

(show all 29)
# Title Authors PMID Year
1
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. 62 57 5
15805157 2005
2
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. 57 5
26105076 2015
3
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. 57 5
24129431 2014
4
Aberrant intrinsic hippocampal and orbitofrontal connectivity in drug-naive adolescent patients with major depressive disorder. 62
36115899 2022
5
Strengthening and monitoring health system's capacity to improve availability, utilization and quality of emergency obstetric care in northern Nigeria. 62
30726275 2019
6
Practice of emergency obstetric care signal functions and reasons for non-provision among health centers and hospitals in Lake and Western zones of Tanzania. 62
30518357 2018
7
Design of Azomethine Diols for Efficient Self-Healing of Strong Polyurethane Elastomers. 62
30423985 2018
8
Anti-Impulse-Noise Edge Detection via Anisotropic Morphological Directional Derivatives. 62
28715330 2017
9
Facial emotion recognition, theory of mind and the role of facial mimicry in depression. 62
28024224 2017
10
Maximizing the productivity of the microalgae Scenedesmus AMDD cultivated in a continuous photobioreactor using an online flow rate control. 62
27628425 2017
11
Quetiapine Extended Release Open-Label Treatment Associated Changes in Amygdala Activation and Connectivity in Anxious Depression: An fMRI Study. 62
27768670 2016
12
Emergency obstetric and neonatal care needs assessment: Results of the 2010 and 2014 surveys in Burkina Faso. 62
27836077 2016
13
Developing a genetic manipulation system for the Antarctic archaeon, Halorubrum lacusprofundi: investigating acetamidase gene function. 62
27708407 2016
14
A randomized, placebo-controlled pilot trial of the delta opioid receptor agonist AZD2327 in anxious depression. 62
26728893 2016
15
Acidogenic fermentation of Scenedesmus sp.-AMDD: Comparison of volatile fatty acids yields between mesophilic and thermophilic conditions. 62
26551650 2016
16
White matter abnormalities in major depressive disorder with melancholic and atypical features: A diffusion tensor imaging study. 62
25384997 2015
17
Simultaneous remediation of nutrients from liquid anaerobic digestate and municipal wastewater by the microalga Scenedesmus sp. AMDD grown in continuous chemostats. 62
25363842 2015
18
Animal models of disc degeneration and major genetic strategies. 62
23703425 2013
19
AMDD: antimicrobial drug database. 62
23317704 2012
20
Availability and quality of emergency obstetric and neonatal care services in Afghanistan. 62
22196990 2012
21
Visual hallucinations in a patient with adult onset acid maltase deficiency disorder. 62
19252955 2009
22
The challenges of improving emergency obstetric care in two rural districts in Mali. 62
17904144 2007
23
Making EmOC a reality--CARE's experiences in areas of high maternal mortality in Africa. 62
16442536 2006
24
Strengthening emergency obstetric care in Ayacucho, Peru. 62
16442113 2006
25
Improving the availability of emergency obstetric care in conflict-affected settings. 62
19153908 2006
26
Planning and implementing a program of renovations of emergency obstetric care facilities: experiences in Rajasthan, India. 62
12384278 2002
27
The AMDD program: history, focus and structure. 62
11502285 2001
28
Structure and activity of mouse S-adenosylmethionine decarboxylase gene promoters and properties of the encoded proteins. 62
9620866 1998
29
Depression and axis II disorders: comorbidity and relationship to cooperativeness. 62
9166654 1996

Variations for Acromesomelic Dysplasia 3

ClinVar genetic disease variations for Acromesomelic Dysplasia 3:

5 (show top 50) (show all 100)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BMPR1B NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser) SNV Pathogenic
446284 rs1553941890 GRCh37: 4:96051067-96051067
GRCh38: 4:95129916-95129916
2 BMPR1B NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs) DEL Pathogenic
6557 rs863223287 GRCh37: 4:96044970-96044977
GRCh38: 4:95123819-95123826
3 BMPR1B NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter) SNV Pathogenic
217255 rs863225042 GRCh37: 4:96051084-96051084
GRCh38: 4:95129933-95129933
4 BMPR1B NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys) SNV Pathogenic
217256 rs745854387 GRCh37: 4:96025666-96025666
GRCh38: 4:95104515-95104515
5 BMPR1B NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg) SNV Pathogenic
217254 rs863225041 GRCh37: 4:96035884-96035884
GRCh38: 4:95114733-95114733
6 BMPR1B NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr) SNV Likely Pathogenic
689613 rs1177728492 GRCh37: 4:96052575-96052575
GRCh38: 4:95131424-95131424
7 BMPR1B NM_001203.3(BMPR1B):c.244C>T (p.Arg82Trp) SNV Uncertain Significance
1679389 GRCh37: 4:96035971-96035971
GRCh38: 4:95114820-95114820
8 BMPR1B NM_001203.3(BMPR1B):c.1118G>A (p.Gly373Asp) SNV Uncertain Significance
1683474 GRCh37: 4:96069940-96069940
GRCh38: 4:95148789-95148789
9 BMPR1B NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val) SNV Uncertain Significance
850714 rs761226009 GRCh37: 4:96051151-96051151
GRCh38: 4:95130000-95130000
10 BMPR1B NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) SNV Uncertain Significance
350123 rs577188671 GRCh37: 4:96069924-96069924
GRCh38: 4:95148773-95148773
11 BMPR1B NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu) SNV Uncertain Significance
638863 rs766791531 GRCh37: 4:96051040-96051040
GRCh38: 4:95129889-95129889
12 BMPR1B NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys) SNV Uncertain Significance
639889 rs1579119447 GRCh37: 4:96046163-96046163
GRCh38: 4:95125012-95125012
13 BMPR1B NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu) SNV Uncertain Significance
653555 rs376819253 GRCh37: 4:96051153-96051153
GRCh38: 4:95130002-95130002
14 BMPR1B NM_001203.3(BMPR1B):c.74C>G (p.Pro25Arg) SNV Uncertain Significance
1008542 rs145700191 GRCh37: 4:96025649-96025649
GRCh38: 4:95104498-95104498
15 BMPR1B NM_001203.3(BMPR1B):c.334C>T (p.Pro112Ser) SNV Uncertain Significance
1010451 rs1225550138 GRCh37: 4:96036923-96036923
GRCh38: 4:95115772-95115772
16 BMPR1B NM_001203.3(BMPR1B):c.1075A>G (p.Ser359Gly) SNV Uncertain Significance
1041425 rs201289177 GRCh37: 4:96052662-96052662
GRCh38: 4:95131511-95131511
17 BMPR1B NM_001203.3(BMPR1B):c.745C>G (p.Gln249Glu) SNV Uncertain Significance
1064229 GRCh37: 4:96051172-96051172
GRCh38: 4:95130021-95130021
18 BMPR1B NM_001203.3(BMPR1B):c.92G>A (p.Arg31His) SNV Uncertain Significance
350113 rs200035802 GRCh37: 4:96025667-96025667
GRCh38: 4:95104516-95104516
19 BMPR1B NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp) SNV Uncertain Significance
350124 rs778257341 GRCh37: 4:96069927-96069927
GRCh38: 4:95148776-95148776
20 BMPR1B NM_001203.3(BMPR1B):c.769A>G (p.Asn257Asp) SNV Uncertain Significance
418063 rs201034260 GRCh37: 4:96051196-96051196
GRCh38: 4:95130045-95130045
21 BMPR1B NM_001203.3(BMPR1B):c.497A>G (p.Asp166Gly) SNV Uncertain Significance
1316061 GRCh37: 4:96046184-96046184
GRCh38: 4:95125033-95125033
22 BMPR1B NC_000004.11:g.(?_96069879)_(96075824_?)dup DUP Uncertain Significance
1373779 GRCh37: 4:96069879-96075824
GRCh38:
23 BMPR1B NM_001203.3(BMPR1B):c.1367G>A (p.Arg456Gln) SNV Uncertain Significance
1383565 GRCh37: 4:96073908-96073908
GRCh38: 4:95152757-95152757
24 BMPR1B NM_001203.3(BMPR1B):c.15T>G (p.Ser5Arg) SNV Uncertain Significance
1405714 GRCh37: 4:96025590-96025590
GRCh38: 4:95104439-95104439
25 BMPR1B NM_001203.3(BMPR1B):c.901A>G (p.Met301Val) SNV Uncertain Significance
1489806 GRCh37: 4:96052488-96052488
GRCh38: 4:95131337-95131337
26 BMPR1B NM_001203.3(BMPR1B):c.487T>A (p.Leu163Ile) SNV Uncertain Significance
1501366 GRCh37: 4:96046174-96046174
GRCh38: 4:95125023-95125023
27 BMPR1B NM_001203.3(BMPR1B):c.670C>T (p.Arg224Cys) SNV Uncertain Significance
1514600 GRCh37: 4:96051097-96051097
GRCh38: 4:95129946-95129946
28 BMPR1B NM_001203.3(BMPR1B):c.1234A>G (p.Arg412Gly) SNV Uncertain Significance
905062 rs1190618723 GRCh37: 4:96070056-96070056
GRCh38: 4:95148905-95148905
29 BMPR1B NM_001203.3(BMPR1B):c.508A>G (p.Ile170Val) SNV Uncertain Significance
1001619 rs778170724 GRCh37: 4:96046195-96046195
GRCh38: 4:95125044-95125044
30 BMPR1B NM_001203.3(BMPR1B):c.358G>A (p.Asp120Asn) SNV Uncertain Significance
1005167 rs1422671894 GRCh37: 4:96044969-96044969
GRCh38: 4:95123818-95123818
31 BMPR1B NM_001203.3(BMPR1B):c.1235G>A (p.Arg412Lys) SNV Uncertain Significance
1005597 rs561948192 GRCh37: 4:96070057-96070057
GRCh38: 4:95148906-95148906
32 BMPR1B NM_001203.3(BMPR1B):c.829C>G (p.Leu277Val) SNV Uncertain Significance
1007561 rs755942515 GRCh37: 4:96052416-96052416
GRCh38: 4:95131265-95131265
33 BMPR1B NM_001203.3(BMPR1B):c.391T>A (p.Ser131Thr) SNV Uncertain Significance
1011960 rs561117066 GRCh37: 4:96045002-96045002
GRCh38: 4:95123851-95123851
34 BMPR1B NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) SNV Uncertain Significance
Likely Benign
906582 rs150974461 GRCh37: 4:96025586-96025586
GRCh38: 4:95104435-95104435
35 BMPR1B NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr) SNV Uncertain Significance
1043555 rs143885868 GRCh37: 4:96025591-96025591
GRCh38: 4:95104440-95104440
36 BMPR1B NM_001203.3(BMPR1B):c.1366C>T (p.Arg456Trp) SNV Uncertain Significance
1046226 rs780280883 GRCh37: 4:96073907-96073907
GRCh38: 4:95152756-95152756
37 BMPR1B NM_001203.3(BMPR1B):c.1174T>G (p.Phe392Val) SNV Uncertain Significance
1060472 GRCh37: 4:96069996-96069996
GRCh38: 4:95148845-95148845
38 BMPR1B NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser) SNV Uncertain Significance
350120 rs200198618 GRCh37: 4:96051189-96051189
GRCh38: 4:95130038-95130038
39 BMPR1B NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg) SNV Uncertain Significance
522761 rs757312834 GRCh37: 4:96025655-96025655
GRCh38: 4:95104504-95104504
40 BMPR1B NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr) SNV Uncertain Significance
1357550 GRCh37: 4:96052479-96052479
GRCh38: 4:95131328-95131328
41 BMPR1B NM_001203.3(BMPR1B):c.895A>G (p.Lys299Glu) SNV Uncertain Significance
1320798 GRCh37: 4:96052482-96052482
GRCh38: 4:95131331-95131331
42 BMPR1B NM_001203.3(BMPR1B):c.580C>G (p.Leu194Val) SNV Uncertain Significance
1400741 GRCh37: 4:96046267-96046267
GRCh38: 4:95125116-95125116
43 BMPR1B NM_001203.3(BMPR1B):c.470C>G (p.Pro157Arg) SNV Uncertain Significance
1398984 GRCh37: 4:96046157-96046157
GRCh38: 4:95125006-95125006
44 BMPR1B NM_001203.3(BMPR1B):c.734C>A (p.Thr245Lys) SNV Uncertain Significance
1364353 GRCh37: 4:96051161-96051161
GRCh38: 4:95130010-95130010
45 BMPR1B NM_001203.3(BMPR1B):c.724T>C (p.Phe242Leu) SNV Uncertain Significance
1418665 GRCh37: 4:96051151-96051151
GRCh38: 4:95130000-95130000
46 BMPR1B NM_001203.3(BMPR1B):c.1081A>G (p.Thr361Ala) SNV Uncertain Significance
1435152 GRCh37: 4:96069903-96069903
GRCh38: 4:95148752-95148752
47 BMPR1B NM_001203.3(BMPR1B):c.907A>C (p.Lys303Gln) SNV Uncertain Significance
1497633 GRCh37: 4:96052494-96052494
GRCh38: 4:95131343-95131343
48 BMPR1B NM_001203.3(BMPR1B):c.1100C>G (p.Pro367Arg) SNV Uncertain Significance
1489198 GRCh37: 4:96069922-96069922
GRCh38: 4:95148771-95148771
49 BMPR1B NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu) SNV Uncertain Significance
1512018 GRCh37: 4:96025618-96025618
GRCh38: 4:95104467-95104467
50 BMPR1B NM_001203.3(BMPR1B):c.737A>T (p.Glu246Val) SNV Uncertain Significance
1513747 GRCh37: 4:96051164-96051164
GRCh38: 4:95130013-95130013

UniProtKB/Swiss-Prot genetic disease variations for Acromesomelic Dysplasia 3:

73
# Symbol AA change Variation ID SNP ID
1 BMPR1B p.Cys53Arg VAR_075521 rs863225041

Expression for Acromesomelic Dysplasia 3

Search GEO for disease gene expression data for Acromesomelic Dysplasia 3.

Pathways for Acromesomelic Dysplasia 3

GO Terms for Acromesomelic Dysplasia 3

Sources for Acromesomelic Dysplasia 3

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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35 IUPHAR
36 LifeMap
38 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
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55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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