HRS
MCID: RMR001
MIFTS: 18

Ramer Ladda Syndrome (HRS) malady

Bone, Fetal categories

Summaries for Ramer Ladda Syndrome

Sources:
47OMIM, 33MalaCards
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MalaCards: Ramer Ladda Syndrome, also known as humero-radial synostosis, is related to synostosis and atrichia with papular lesions, and has symptoms including autosomal dominant inheritance, restricted joint mobility/joint stiffness/ankylosis and microcephaly.

Description from OMIM:47 143050,236400

Aliases & Classifications for Ramer Ladda Syndrome

Sources:
43NIH Rare Diseases, 61UMLS, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
humero-radial synostosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

ramer ladda syndrome 43 61
humero-radial synostosis 43 49 47
humeroradial synostosis 43
hrs 43


External Ids:

ICD10 via Orphanet26 Q74.0

Related Diseases for Ramer Ladda Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Ramer Ladda Syndrome:



Diseases related to ramer ladda syndrome

Clinical Features for Ramer Ladda Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

143050,236400

Clinical synopsis from OMIM:

143050

Symptoms:

49 (show all 12)
  • autosomal dominant inheritance
  • restricted joint mobility/joint stiffness/ankylosis
  • microcephaly
  • wrist/carpal anomalies
  • retinoschisis/retinal/chorioretinal coloboma
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • meningocele
  • elbow dislocation
  • thumb hypoplasia/aplasia/absence
  • tarsal anomaly/fusion/synostosis
  • humeroradial fusion

Drugs & Therapeutics for Ramer Ladda Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Ramer Ladda Syndrome

Anatomical Context for Ramer Ladda Syndrome

Animal Models for Ramer Ladda Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Ramer Ladda Syndrome

Genetic Variations for Ramer Ladda Syndrome

Expression for genes affiliated with Ramer Ladda Syndrome

Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Ramer Ladda Syndrome.

Pathways for genes affiliated with Ramer Ladda Syndrome

Compounds for genes affiliated with Ramer Ladda Syndrome

GO Terms for genes affiliated with Ramer Ladda Syndrome

Products for genes affiliated with Ramer Ladda Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ramer Ladda Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet