MCID: SDD003
MIFTS: 16

Saddan malady

Neuronal, Skin, Bone categories

Summaries for Saddan

Sources:
21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities.

MalaCards: Saddan, also known as severe achondroplasia with developmental delay and acanthosis nigricans, is related to acanthosis nigricans and thanatophoric dysplasia type 1. An important gene associated with Saddan is FGFR3 (fibroblast growth factor receptor 3). Affiliated tissues include skin and brain.

Aliases & Classifications for Saddan

Sources:
64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Skin, Bone


Aliases & Descriptions:

saddan 64 21
severe achondroplasia with developmental delay and acanthosis nigricans 64 43 20 22 21 61
ssb syndrome 64 43 21
skeleton-skin-brain syndrome 64 21
saddan dysplasia 43 21
achondroplasia, severe, with developmental delay and acanthosis nigricans 21
skeleton skin brain syndrome 43


Related Diseases for Saddan

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Saddan via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1acanthosis nigricans10.2
2thanatophoric dysplasia type 110.0

Clinical Features for Saddan

Drugs & Therapeutics for Saddan

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

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Drug clinical trials:

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Search CenterWatch for Saddan

Genetic Tests for Saddan

Sources:
20GeneTests, 22GTR
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Genetic tests related to Saddan:

id Genetic test Affiliating Genes
1 Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans (saddan)20 FGFR3
2 Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans22

Anatomical Context for Saddan

Sources:
33MalaCards
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MalaCards organs/tissues related to Saddan:

33
Skin, Brain

Animal Models for Saddan or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Saddan

Sources:
51PubMed
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Articles related to Saddan:

idTitleAuthorsYear
1
SADDAN syndrome. (22145492)
2011
2
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. (18076102)
2008
3
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. (10377013)
1999

Genetic Variations for Saddan

Expression for genes affiliated with Saddan

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Saddan

Search GEO for disease gene expression data for Saddan.

Pathways for genes affiliated with Saddan

Compounds for genes affiliated with Saddan

GO Terms for genes affiliated with Saddan

Products for genes affiliated with Saddan

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Saddan

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