MCID: SDD003
MIFTS: 20

Saddan malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Bone diseases categories

Summaries for Saddan

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22Genetics Home Reference, 34MalaCards
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Genetics Home Reference:22 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:
66Wikipedia, 22Genetics Home Reference, 44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS
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Classifications:



Aliases & Descriptions:

saddan 66 22
severe achondroplasia with developmental delay and acanthosis nigricans 66 44 21 23 22 63
ssb syndrome 66 44 22
skeleton-skin-brain syndrome 66 22
saddan dysplasia 44 22
achondroplasia, severe, with developmental delay and acanthosis nigricans 22
skeleton skin brain syndrome 44


Related Diseases for Saddan

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Sources:
18GeneCards, 19GeneDecks
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Saddan

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21GeneTests, 23GTR
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Genetic tests related to Saddan:

id Genetic test Affiliating Genes
1 Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (saddan)21 FGFR3
2 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans23

Anatomical Context for Saddan

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34MalaCards
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MalaCards organs/tissues related to Saddan:

34
Brain, Skin

Animal Models for Saddan or affiliated genes

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Publications for Saddan

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53PubMed
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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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Sources:
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet