MCID: SDD003
MIFTS: 22

Saddan malady

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

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

Aliases & Classifications for Saddan

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Saddan, Aliases & Descriptions:

Name: Saddan 65 21
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 65 42 20 22 21 62
Skeleton-Skin-Brain Syndrome 65 21 62
Ssb Syndrome 65 42 21
 
Saddan Dysplasia 42 21
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 21
Skeleton Skin Brain Syndrome 42


Classifications:



Related Diseases for Saddan

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

idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia10.2
2acanthosis nigricans10.2
3skeletal dysplasias10.2
4thanatophoric dysplasia type 110.2
5thanatophoric dysplasia10.0

Graphical network of diseases related to Saddan:



Diseases related to saddan

Symptoms for Saddan

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Drugs & Therapeutics for Saddan

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Drug clinical trials:

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Genetic Tests for Saddan

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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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MalaCards organs/tissues related to Saddan:

32
Brain, Skin, Bone

Animal Models for Saddan or affiliated genes

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Publications for Saddan

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Articles related to Saddan:

idTitleAuthorsYear
1
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. (25119967)
2014
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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Clinvar genetic disease variations for Saddan:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet