Chondrodysplasia Acromesomelic with Genital Anomalies disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

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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).

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Related Diseases for Chondrodysplasia Acromesomelic with Genital Anomalies

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Symptoms & Phenotypes for Chondrodysplasia Acromesomelic with Genital Anomalies

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Drugs & Therapeutics for Chondrodysplasia Acromesomelic with Genital Anomalies

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

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Genetic Tests for Chondrodysplasia Acromesomelic with Genital Anomalies

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Anatomical Context for Chondrodysplasia Acromesomelic with Genital Anomalies

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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	Stange K...Borck G	26105076	2015
2	Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. ⁶	Graul-Neumann LM...Seemann P	24129431	2014
3	A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. ⁶	Demirhan O...Lehmann K	15805157	2005

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Genes for Chondrodysplasia Acromesomelic with Genital Anomalies

Genes related to Chondrodysplasia Acromesomelic with Genital Anomalies (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	24129431 26105076 15805157

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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

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Expression for Chondrodysplasia Acromesomelic with Genital Anomalies

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

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Pathways for Chondrodysplasia Acromesomelic with Genital Anomalies

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GO Terms for Chondrodysplasia Acromesomelic with Genital Anomalies

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