MCID: ATS448
MIFTS: 11

Autosomal Recessive Brachyolmia

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Brachyolmia

MalaCards integrated aliases for Autosomal Recessive Brachyolmia:

Name: Autosomal Recessive Brachyolmia 59
Brachyolmia, Hobaek/toledo Type 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive brachyolmia
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q76.3
Orphanet 59 ORPHA448242

Summaries for Autosomal Recessive Brachyolmia

MalaCards based summary : Autosomal Recessive Brachyolmia, also known as brachyolmia, hobaek/toledo type, is related to brachyolmia and skeletal dysplasias. An important gene associated with Autosomal Recessive Brachyolmia is PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2). Affiliated tissues include bone.

Related Diseases for Autosomal Recessive Brachyolmia

Diseases in the Brachyolmia family:

Brachyolmia Type 3 Brachyolmia Type 2
Autosomal Recessive Brachyolmia

Diseases related to Autosomal Recessive Brachyolmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachyolmia 11.9
2 skeletal dysplasias 10.3
3 pyle disease 10.2
4 brachyolmia type 4 with mild epiphyseal and metaphyseal changes 10.2

Symptoms & Phenotypes for Autosomal Recessive Brachyolmia

Drugs & Therapeutics for Autosomal Recessive Brachyolmia

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Brachyolmia

Genetic Tests for Autosomal Recessive Brachyolmia

Anatomical Context for Autosomal Recessive Brachyolmia

MalaCards organs/tissues related to Autosomal Recessive Brachyolmia:

41
Bone

Publications for Autosomal Recessive Brachyolmia

Articles related to Autosomal Recessive Brachyolmia:

# Title Authors PMID Year
1
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases. 38
31313512 2019
2
Autosomal recessive brachyolmia: early radiological findings. 38
27544198 2016
3
PAPSS2 mutations cause autosomal recessive brachyolmia. 38
22791835 2012

Variations for Autosomal Recessive Brachyolmia

Expression for Autosomal Recessive Brachyolmia

Search GEO for disease gene expression data for Autosomal Recessive Brachyolmia.

Pathways for Autosomal Recessive Brachyolmia

GO Terms for Autosomal Recessive Brachyolmia

Sources for Autosomal Recessive Brachyolmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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