MCID: SDD003
MIFTS: 20

Saddan malady

Neuronal diseases, Skin diseases, Bone diseases categories

Summaries for Saddan

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21Genetics Home Reference, 32MalaCards
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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, brain and bone.

Aliases & Classifications for Saddan

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Sources:
63Wikipedia, 21Genetics Home Reference, 42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS
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Classifications:

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


Aliases & Descriptions:

saddan 63 21
severe achondroplasia with developmental delay and acanthosis nigricans 63 42 20 22 21 60
ssb syndrome 63 42 21
skeleton-skin-brain syndrome 63 21
saddan dysplasia 42 21
achondroplasia, severe, with developmental delay and acanthosis nigricans 21
skeleton skin brain syndrome 42


Related Diseases for Saddan

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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

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Drugs & Therapeutics for Saddan

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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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32MalaCards
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MalaCards organs/tissues related to Saddan:

32
Skin, Brain, Bone

Animal Models for Saddan or affiliated genes

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Publications for Saddan

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50PubMed
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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

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Expression for genes affiliated with Saddan

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet