AMDD
MCID: ACR096
MIFTS: 30

Acromesomelic Dysplasia, Demirhan Type (AMDD)

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Acromesomelic Dysplasia, Demirhan Type

MalaCards integrated aliases for Acromesomelic Dysplasia, Demirhan Type:

Name: Acromesomelic Dysplasia, Demirhan Type 57 72 36 29 6
Chondrodysplasia, Acromesomelic, with or Without Genital Anomalies 57 72
Amdd 57 72
Acromesomelic Chondrodysplasia, with Genital Anomalies 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
allelic to brachydactyly, type a2


HPO:

31
acromesomelic dysplasia, demirhan type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Acromesomelic Dysplasia, Demirhan Type

UniProtKB/Swiss-Prot : 72 Acromesomelic dysplasia, Demirhan type: A form of chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders 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). AMDD inheritance is autosomal recessive.

MalaCards based summary : Acromesomelic Dysplasia, Demirhan Type, 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, Demirhan Type is BMPR1B (Bone Morphogenetic Protein Receptor Type 1B), and among its related pathways/superpathways is TGF-beta signaling pathway. Affiliated tissues include uterus, bone and amygdala, and related phenotypes are primary amenorrhea and short toe

KEGG : 36 Acromesomelic dysplasia with genital anomalies is a condition that shows severe limb malformation with brachydactyly. Hypogonadism is also present. It is caused by homozygous mutation of BMPR1B.

More information from OMIM: 609441

Related Diseases for Acromesomelic Dysplasia, Demirhan Type

Diseases related to Acromesomelic Dysplasia, Demirhan Type 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, Demirhan Type:



Diseases related to Acromesomelic Dysplasia, Demirhan Type

Symptoms & Phenotypes for Acromesomelic Dysplasia, Demirhan Type

Human phenotypes related to Acromesomelic Dysplasia, Demirhan Type:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 31 HP:0000786
2 short toe 31 HP:0001831
3 talipes equinovarus 31 HP:0001762
4 brachydactyly 31 HP:0001156
5 short finger 31 HP:0009381
6 hypoplasia of the ulna 31 HP:0003022
7 tarsal synostosis 31 HP:0008368
8 disproportionate short-limb short stature 31 HP:0008873
9 broad foot 31 HP:0001769
10 hypergonadotropic hypogonadism 31 HP:0000815
11 aplasia/hypoplasia involving the metacarpal bones 31 HP:0005914
12 fibular aplasia 31 HP:0002990
13 short phalanx of finger 31 HP:0009803
14 radial deviation of finger 31 HP:0009466
15 hypoplasia of the uterus 31 HP:0000013
16 carpal synostosis 31 HP:0009702
17 aplasia of the proximal phalanges of the hand 31 HP:0010242
18 short femoral neck 31 HP:0100864
19 widened proximal tibial metaphyses 31 HP:0005028

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

Drugs & Therapeutics for Acromesomelic Dysplasia, Demirhan Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Targeted Intervention to Improve Medication Adherence in Cognitively Impaired Patients With Heart Failure Completed NCT01602731

Search NIH Clinical Center for Acromesomelic Dysplasia, Demirhan Type

Genetic Tests for Acromesomelic Dysplasia, Demirhan Type

Genetic tests related to Acromesomelic Dysplasia, Demirhan Type:

# Genetic test Affiliating Genes
1 Acromesomelic Dysplasia, Demirhan Type 29 BMPR1B

Anatomical Context for Acromesomelic Dysplasia, Demirhan Type

MalaCards organs/tissues related to Acromesomelic Dysplasia, Demirhan Type:

40
Uterus, Bone, Amygdala

Publications for Acromesomelic Dysplasia, Demirhan Type

Articles related to Acromesomelic Dysplasia, Demirhan Type:

(show all 25)
# Title Authors PMID Year
1
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. 57 6
26105076 2015
2
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. 57 6
24129431 2014
3
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. 57 6
15805157 2005
4
Strengthening and monitoring health system's capacity to improve availability, utilization and quality of emergency obstetric care in northern Nigeria. 61
30726275 2019
5
Practice of emergency obstetric care signal functions and reasons for non-provision among health centers and hospitals in Lake and Western zones of Tanzania. 61
30518357 2018
6
Anti-Impulse-Noise Edge Detection via Anisotropic Morphological Directional Derivatives. 61
28715330 2017
7
Facial emotion recognition, theory of mind and the role of facial mimicry in depression. 61
28024224 2017
8
Maximizing the productivity of the microalgae Scenedesmus AMDD cultivated in a continuous photobioreactor using an online flow rate control. 61
27628425 2017
9
Quetiapine Extended Release Open-Label Treatment Associated Changes in Amygdala Activation and Connectivity in Anxious Depression: An fMRI Study. 61
27768670 2016
10
Emergency obstetric and neonatal care needs assessment: Results of the 2010 and 2014 surveys in Burkina Faso. 61
27836077 2016
11
A randomized, placebo-controlled pilot trial of the delta opioid receptor agonist AZD2327 in anxious depression. 61
26728893 2016
12
Acidogenic fermentation of Scenedesmus sp.-AMDD: Comparison of volatile fatty acids yields between mesophilic and thermophilic conditions. 61
26551650 2016
13
White matter abnormalities in major depressive disorder with melancholic and atypical features: A diffusion tensor imaging study. 61
25384997 2015
14
Simultaneous remediation of nutrients from liquid anaerobic digestate and municipal wastewater by the microalga Scenedesmus sp. AMDD grown in continuous chemostats. 61
25363842 2015
15
Animal models of disc degeneration and major genetic strategies. 61
23703425 2013
16
AMDD: antimicrobial drug database. 61
23317704 2012
17
Availability and quality of emergency obstetric and neonatal care services in Afghanistan. 61
22196990 2012
18
Visual hallucinations in a patient with adult onset acid maltase deficiency disorder. 61
19252955 2009
19
The challenges of improving emergency obstetric care in two rural districts in Mali. 61
17904144 2007
20
Strengthening emergency obstetric care in Ayacucho, Peru. 61
16442113 2006
21
Making EmOC a reality--CARE's experiences in areas of high maternal mortality in Africa. 61
16442536 2006
22
Improving the availability of emergency obstetric care in conflict-affected settings. 61
19153908 2006
23
Planning and implementing a program of renovations of emergency obstetric care facilities: experiences in Rajasthan, India. 61
12384278 2002
24
The AMDD program: history, focus and structure. 61
11502285 2001
25
Depression and axis II disorders: comorbidity and relationship to cooperativeness. 61
9166654 1996

Variations for Acromesomelic Dysplasia, Demirhan Type

ClinVar genetic disease variations for Acromesomelic Dysplasia, Demirhan Type:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BMPR1B NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs) Deletion Pathogenic 6557 rs863223287 GRCh37: 4:96044970-96044977
GRCh38: 4:95123819-95123826
2 BMPR1B NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter) SNV Pathogenic 217255 rs863225042 GRCh37: 4:96051084-96051084
GRCh38: 4:95129933-95129933
3 BMPR1B NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys) SNV Pathogenic 217256 rs745854387 GRCh37: 4:96025666-96025666
GRCh38: 4:95104515-95104515
4 BMPR1B NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg) SNV Pathogenic 217254 rs863225041 GRCh37: 4:96035884-96035884
GRCh38: 4:95114733-95114733
5 BMPR1B NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser) SNV Pathogenic 446284 rs1553941890 GRCh37: 4:96051067-96051067
GRCh38: 4:95129916-95129916
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.1112G>A (p.Arg371Gln) SNV Uncertain significance 441001 rs34970181 GRCh37: 4:96069934-96069934
GRCh38: 4:95148783-95148783
8 BMPR1B NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu) SNV Uncertain significance 638863 rs766791531 GRCh37: 4:96051040-96051040
GRCh38: 4:95129889-95129889
9 BMPR1B NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys) SNV Uncertain significance 639889 rs1579119447 GRCh37: 4:96046163-96046163
GRCh38: 4:95125012-95125012
10 BMPR1B NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu) SNV Uncertain significance 653555 rs376819253 GRCh37: 4:96051153-96051153
GRCh38: 4:95130002-95130002
11 BMPR1B NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile) SNV Uncertain significance 663972 rs200083866 GRCh37: 4:96036840-96036840
GRCh38: 4:95115689-95115689
12 BMPR1B NM_001203.3(BMPR1B):c.671G>A (p.Arg224His) SNV Uncertain significance 350117 rs35973133 GRCh37: 4:96051098-96051098
GRCh38: 4:95129947-95129947
13 BMPR1B NM_001203.3(BMPR1B):c.508A>G (p.Ile170Val) SNV Uncertain significance 1001619 GRCh37: 4:96046195-96046195
GRCh38: 4:95125044-95125044
14 BMPR1B NM_001203.3(BMPR1B):c.358G>A (p.Asp120Asn) SNV Uncertain significance 1005167 GRCh37: 4:96044969-96044969
GRCh38: 4:95123818-95123818
15 BMPR1B NM_001203.3(BMPR1B):c.1235G>A (p.Arg412Lys) SNV Uncertain significance 1005597 GRCh37: 4:96070057-96070057
GRCh38: 4:95148906-95148906
16 BMPR1B NM_001203.3(BMPR1B):c.829C>G (p.Leu277Val) SNV Uncertain significance 1007561 GRCh37: 4:96052416-96052416
GRCh38: 4:95131265-95131265
17 BMPR1B NM_001203.3(BMPR1B):c.74C>G (p.Pro25Arg) SNV Uncertain significance 1008542 GRCh37: 4:96025649-96025649
GRCh38: 4:95104498-95104498
18 BMPR1B NM_001203.3(BMPR1B):c.334C>T (p.Pro112Ser) SNV Uncertain significance 1010451 GRCh37: 4:96036923-96036923
GRCh38: 4:95115772-95115772
19 BMPR1B NM_001203.3(BMPR1B):c.391T>A (p.Ser131Thr) SNV Uncertain significance 1011960 GRCh37: 4:96045002-96045002
GRCh38: 4:95123851-95123851
20 BMPR1B NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) SNV Uncertain significance 906582 GRCh37: 4:96025586-96025586
GRCh38: 4:95104435-95104435
21 BMPR1B NM_001203.3(BMPR1B):c.1075A>G (p.Ser359Gly) SNV Uncertain significance 1041425 GRCh37: 4:96052662-96052662
GRCh38: 4:95131511-95131511
22 BMPR1B NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr) SNV Uncertain significance 1043555 GRCh37: 4:96025591-96025591
GRCh38: 4:95104440-95104440
23 BMPR1B NM_001203.3(BMPR1B):c.1366C>T (p.Arg456Trp) SNV Uncertain significance 1046226 GRCh37: 4:96073907-96073907
GRCh38: 4:95152756-95152756
24 BMPR1B NM_001203.3(BMPR1B):c.1174T>G (p.Phe392Val) SNV Uncertain significance 1060472 GRCh37: 4:96069996-96069996
GRCh38: 4:95148845-95148845
25 BMPR1B NM_001203.3(BMPR1B):c.745C>G (p.Gln249Glu) SNV Uncertain significance 1064229 GRCh37: 4:96051172-96051172
GRCh38: 4:95130021-95130021
26 BMPR1B NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val) SNV Uncertain significance 850714 GRCh37: 4:96051151-96051151
GRCh38: 4:95130000-95130000
27 BMPR1B NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) SNV Uncertain significance 350123 rs577188671 GRCh37: 4:96069924-96069924
GRCh38: 4:95148773-95148773
28 BMPR1B NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) SNV Likely benign 906582 GRCh37: 4:96025586-96025586
GRCh38: 4:95104435-95104435
29 BMPR1B NM_001203.3(BMPR1B):c.1035T>G (p.Thr345=) SNV Likely benign 772926 rs760647140 GRCh37: 4:96052622-96052622
GRCh38: 4:95131471-95131471
30 BMPR1B NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) SNV Likely benign 218545 rs138801821 GRCh37: 4:96045029-96045029
GRCh38: 4:95123878-95123878
31 BMPR1B NM_001203.3(BMPR1B):c.430T>C (p.Leu144=) SNV Likely benign 464044 rs55980670 GRCh37: 4:96045041-96045041
GRCh38: 4:95123890-95123890
32 BMPR1B NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) SNV Benign 350118 rs56083112 GRCh37: 4:96051132-96051132
GRCh38: 4:95129981-95129981
33 BMPR1B NM_001203.3(BMPR1B):c.*141C>T SNV Benign 350131 rs1434536 GRCh37: 4:96075965-96075965
GRCh38: 4:95154814-95154814
34 BMPR1B NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp) SNV Benign 350116 rs34231464 GRCh37: 4:96045056-96045056
GRCh38: 4:95123905-95123905
35 BMPR1B NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=) SNV Benign 703948 rs140430323 GRCh37: 4:96075791-96075791
GRCh38: 4:95154640-95154640
36 BMPR1B NM_001203.3(BMPR1B):c.1384-8T>C SNV Benign 350126 rs201359647 GRCh37: 4:96075691-96075691
GRCh38: 4:95154540-95154540
37 BMPR1B NM_001203.3(BMPR1B):c.247-4A>G SNV Benign 283921 rs570808649 GRCh37: 4:96036832-96036832
GRCh38: 4:95115681-95115681

UniProtKB/Swiss-Prot genetic disease variations for Acromesomelic Dysplasia, Demirhan Type:

72
# Symbol AA change Variation ID SNP ID
1 BMPR1B p.Cys53Arg VAR_075521 rs863225041

Expression for Acromesomelic Dysplasia, Demirhan Type

Search GEO for disease gene expression data for Acromesomelic Dysplasia, Demirhan Type.

Pathways for Acromesomelic Dysplasia, Demirhan Type

Pathways related to Acromesomelic Dysplasia, Demirhan Type according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

GO Terms for Acromesomelic Dysplasia, Demirhan Type

Sources for Acromesomelic Dysplasia, Demirhan Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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