MCID: CHN024
MIFTS: 9

Chondrodysplasia Acromesomelic with Genital Anomalies

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Chondrodysplasia Acromesomelic with Genital Anomalies

MalaCards integrated aliases for Chondrodysplasia Acromesomelic with Genital Anomalies:

Name: Chondrodysplasia Acromesomelic with Genital Anomalies 20 6
Chondrodysplasia, Acromesomelic, with Genital Anomalies 39

Classifications:



Summaries for Chondrodysplasia Acromesomelic with Genital Anomalies

MalaCards based summary : Chondrodysplasia Acromesomelic with Genital Anomalies, is also known as chondrodysplasia, acromesomelic, with genital anomalies. An important gene associated with Chondrodysplasia Acromesomelic with Genital Anomalies is BMPR1B (Bone Morphogenetic Protein Receptor Type 1B).

Related Diseases for Chondrodysplasia Acromesomelic with Genital Anomalies

Symptoms & Phenotypes for Chondrodysplasia Acromesomelic with Genital Anomalies

Drugs & Therapeutics for Chondrodysplasia Acromesomelic with Genital Anomalies

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia Acromesomelic with Genital Anomalies

Genetic Tests for Chondrodysplasia Acromesomelic with Genital Anomalies

Anatomical Context for Chondrodysplasia Acromesomelic with Genital Anomalies

Publications for Chondrodysplasia Acromesomelic with Genital Anomalies

Articles related to Chondrodysplasia Acromesomelic with Genital Anomalies:

# Title Authors PMID Year
1
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. 6
26105076 2015
2
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. 6
24129431 2014
3
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. 6
15805157 2005

Variations for Chondrodysplasia Acromesomelic with Genital Anomalies

ClinVar genetic disease variations for Chondrodysplasia Acromesomelic with Genital Anomalies:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR1B NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs) Deletion Pathogenic 6557 rs863223287 4:96044970-96044977 4:95123819-95123826
2 BMPR1B NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter) SNV Pathogenic 217255 rs863225042 4:96051084-96051084 4:95129933-95129933
3 BMPR1B NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys) SNV Pathogenic 217256 rs745854387 4:96025666-96025666 4:95104515-95104515
4 BMPR1B NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg) SNV Pathogenic 217254 rs863225041 4:96035884-96035884 4:95114733-95114733
5 BMPR1B NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser) SNV Pathogenic 446284 rs1553941890 4:96051067-96051067 4:95129916-95129916
6 BMPR1B NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr) SNV Likely pathogenic 689613 rs1177728492 4:96052575-96052575 4:95131424-95131424
7 BMPR1B NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln) SNV Uncertain significance 441001 rs34970181 4:96069934-96069934 4:95148783-95148783
8 BMPR1B NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu) SNV Uncertain significance 638863 rs766791531 4:96051040-96051040 4:95129889-95129889
9 BMPR1B NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys) SNV Uncertain significance 639889 rs1579119447 4:96046163-96046163 4:95125012-95125012
10 BMPR1B NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu) SNV Uncertain significance 653555 rs376819253 4:96051153-96051153 4:95130002-95130002
11 BMPR1B NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile) SNV Uncertain significance 663972 rs200083866 4:96036840-96036840 4:95115689-95115689
12 BMPR1B NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val) SNV Uncertain significance 850714 4:96051151-96051151 4:95130000-95130000
13 BMPR1B NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) SNV Uncertain significance 350123 rs577188671 4:96069924-96069924 4:95148773-95148773
14 BMPR1B NM_001203.3(BMPR1B):c.671G>A (p.Arg224His) SNV Uncertain significance 350117 rs35973133 4:96051098-96051098 4:95129947-95129947
15 BMPR1B NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) SNV Likely benign 906582 4:96025586-96025586 4:95104435-95104435
16 BMPR1B NM_001203.3(BMPR1B):c.1035T>G (p.Thr345=) SNV Likely benign 772926 rs760647140 4:96052622-96052622 4:95131471-95131471
17 BMPR1B NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) SNV Likely benign 218545 rs138801821 4:96045029-96045029 4:95123878-95123878
18 BMPR1B NM_001203.3(BMPR1B):c.430T>C (p.Leu144=) SNV Likely benign 464044 rs55980670 4:96045041-96045041 4:95123890-95123890
19 BMPR1B NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) SNV Benign 350118 rs56083112 4:96051132-96051132 4:95129981-95129981
20 BMPR1B NM_001203.3(BMPR1B):c.*141C>T SNV Benign 350131 rs1434536 4:96075965-96075965 4:95154814-95154814
21 BMPR1B NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp) SNV Benign 350116 rs34231464 4:96045056-96045056 4:95123905-95123905
22 BMPR1B NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=) SNV Benign 703948 rs140430323 4:96075791-96075791 4:95154640-95154640
23 BMPR1B NM_001203.3(BMPR1B):c.1384-8T>C SNV Benign 350126 rs201359647 4:96075691-96075691 4:95154540-95154540
24 BMPR1B NM_001203.3(BMPR1B):c.247-4A>G SNV Benign 283921 rs570808649 4:96036832-96036832 4:95115681-95115681

Expression for Chondrodysplasia Acromesomelic with Genital Anomalies

Search GEO for disease gene expression data for Chondrodysplasia Acromesomelic with Genital Anomalies.

Pathways for Chondrodysplasia Acromesomelic with Genital Anomalies

GO Terms for Chondrodysplasia Acromesomelic with Genital Anomalies

Sources for Chondrodysplasia Acromesomelic with Genital Anomalies

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72 UMLS via Orphanet
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