MCID: CHR347
MIFTS: 17

Chrondrodysplasia, Acromesomelic, with Genital Anomalies malady

Genetic diseases, Rare diseases categories

Summaries for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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MalaCards based summary: Chrondrodysplasia, Acromesomelic, with Genital Anomalies, is also known as chondrodysplasia, acromesomelic, with genital anomalies, and has symptoms including autosomal recessive inheritance, hypoplasia of the uterus and primary amenorrhea. An important gene associated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies is BMPR1B (bone morphogenetic protein receptor, type IB). Affiliated tissues include bone and uterus.

Description from OMIM:47 609441

Aliases & Classifications for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Chrondrodysplasia, Acromesomelic, with Genital Anomalies, Aliases & Descriptions:

Name: Chrondrodysplasia, Acromesomelic, with Genital Anomalies 47 11
Chondrodysplasia, Acromesomelic, with Genital Anomalies 47
 
Chondrodysplasia Acromesomelic with Genital Anomalies 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM47 609441

Related Diseases for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Symptoms for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Symptoms by clinical synopsis from OMIM:

609441

Clinical features from OMIM:

609441

HPO human phenotypes related to Chrondrodysplasia, Acromesomelic, with Genital Anomalies:

(show all 19)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypoplasia of the uterus HP:0000013
3 primary amenorrhea HP:0000786
4 hypergonadotropic hypogonadism HP:0000815
5 talipes equinovarus HP:0001762
6 broad foot HP:0001769
7 short toe HP:0001831
8 fibular aplasia HP:0002990
9 hypoplasia of the ulna HP:0003022
10 widened proximal tibial metaphyses HP:0005028
11 aplasia/hypoplasia involving the metacarpal bones HP:0005914
12 tarsal synostosis HP:0008368
13 disproportionate short-limb short stature HP:0008873
14 short finger HP:0009381
15 radial deviation of finger HP:0009466
16 carpal synostosis HP:0009702
17 short phalanx of finger HP:0009803
18 aplasia of the proximal phalanges of the hand HP:0010242
19 short femoral neck HP:0100864

Drugs & Therapeutics for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Drug clinical trials:

Search ClinicalTrials for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

Search NIH Clinical Center for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

Genetic Tests for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Anatomical Context for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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MalaCards organs/tissues related to Chrondrodysplasia, Acromesomelic, with Genital Anomalies:

33
Bone, Uterus

Animal Models for Chrondrodysplasia, Acromesomelic, with Genital Anomalies or affiliated genes

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Publications for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Variations for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Clinvar genetic disease variations for Chrondrodysplasia, Acromesomelic, with Genital Anomalies:

7
id Gene Variation Type Significance SNP ID Assembly Location
1BMPR1BBMPR1B, 8-BP DEL, NT359deletionPathogenic

Expression for genes affiliated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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

Pathways for genes affiliated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Compounds for genes affiliated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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GO Terms for genes affiliated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Products for genes affiliated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet