MCID: SDD003
MIFTS: 20

Saddan malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Bone diseases categories
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Summaries for Saddan

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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 achondroplasia. An important gene associated with Saddan is FGFR3 (fibroblast growth factor receptor 3). Affiliated tissues include brain and skin.

Aliases & Classifications for Saddan

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Sources:
65Wikipedia, 21Genetics Home Reference, 43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS
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Classifications:



Aliases & Descriptions:

saddan 65 21
severe achondroplasia with developmental delay and acanthosis nigricans 65 43 20 22 21 62
ssb syndrome 65 43 21
skeleton-skin-brain syndrome 65 21
saddan dysplasia 43 21
achondroplasia, severe, with developmental delay and acanthosis nigricans 21
skeleton skin brain syndrome 43


Related Diseases for Saddan

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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
2achondroplasia10.2
3skeletal dysplasias10.0
4thanatophoric dysplasia type 110.0

Symptoms for Saddan

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Drugs & Therapeutics for Saddan

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Saddan

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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

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33MalaCards
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MalaCards organs/tissues related to Saddan:

33
Brain, Skin

Animal Models for Saddan or affiliated genes

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Publications for Saddan

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52PubMed
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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

Variations for Saddan

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Saddan:

1
id Gene Name Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met)single nucleotide variantPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890

Expression for genes affiliated with Saddan

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Saddan

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Pathways for genes affiliated with Saddan

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Compounds for genes affiliated with Saddan

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GO Terms for genes affiliated with Saddan

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Products for genes affiliated with Saddan

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Saddan

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet