MCID: SDD003
MIFTS: 30

Saddan malady

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

Summaries for Saddan

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Genetics Home Reference:23 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, and has symptoms including seizures, cognitive impairment and abnormality of the clavicles. 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:
65Wikipedia, 23Genetics Home Reference, 49Orphanet, 43NIH Rare Diseases, 22GeneTests, 62UMLS, 24GTR, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Saddan, Aliases & Descriptions:

Name: Saddan 65 23 49
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 65 43 22 23 62
Skeleton-Skin-Brain Syndrome 65 23 62
Ssb Syndrome 65 43 23
 
Severe Achondroplasia - Developmental Delay - Acanthosis Nigricans 49 24
Saddan Dysplasia 43 23
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 23
Skeleton Skin Brain Syndrome 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
saddan:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet49 85165
ICD10 via Orphanet28 Q77.4
UMLS via Orphanet63 C2674173

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

Symptoms for Saddan

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Symptoms:

 49 (show all 7)
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • anomalies of bones/skeletal anomalies
  • clavicle absent/abnormal
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly

HPO human phenotypes related to Saddan:

(show all 6)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 cognitive impairment hallmark (90%) HP:0100543
3 abnormality of the clavicles typical (50%) HP:0000889
4 abnormality of the femur typical (50%) HP:0002823
5 abnormality of the fibula typical (50%) HP:0002991
6 abnormality of the tibia typical (50%) HP:0002992

Drugs & Therapeutics for Saddan

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Drug clinical trials:

Search ClinicalTrials for Saddan

Search NIH Clinical Center for Saddan

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)22 FGFR3
2 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans24

Anatomical Context for Saddan

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MalaCards organs/tissues related to Saddan:

33
Skin, Brain, 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
SADDAN syndrome. (22145492)
2011
3
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. (18076102)
2008
4
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:

7 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys)single nucleotide variantPathogenicrs121913484GRCh37Chr 4, 1806092: 1806092
2FGFR3NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
3FGFR3NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
4FGFR3NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
5FGFR3NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met)single nucleotide variantPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
6FGFR3NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys)single nucleotide variantPathogenicrs121913485GRCh37Chr 4, 1806099: 1806099
7FGFR3NM_000142.4(FGFR3): c.1454A> G (p.Gln485Arg)single nucleotide variantPathogenicrs267606808GRCh37Chr 4, 1807123: 1807123
8FGFR3NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
9FGFR3NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu)single nucleotide variantPathogenicrs397515514GRCh37Chr 4, 1808988: 1808988
10FGFR3NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
11FGFR3NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989

Expression for genes affiliated with Saddan

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Search GEO for disease gene expression data for Saddan.

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
  • Proteins
  • Kits and Assays

Sources for Saddan

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet