MCID: SDD003
MIFTS: 30

Saddan malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Saddan

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Sources:
24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Saddan:

Name: Saddan 52 71 25 54 70
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 52 25 70 68
Ssb Syndrome 71 48 24 25
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 48 24 25
Saddan Dysplasia 48 25 70
 
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome 54 27
Skeleton Skin Brain Syndrome 48
Skeletal-Skin-Brain Syndrome 24
Skeleton-Skin-Brain Syndrome 25
Saddan Syndrome 24

Characteristics:

Orphanet epidemiological data:

54
saddan:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

OMIM52 616482
Orphanet54 ORPHA85165
UMLS via Orphanet69 C2674173
ICD10 via Orphanet31 Q77.4
MedGen37 CN231689
MeSH39 D000130

Summaries for Saddan

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UniProtKB/Swiss-Prot:70 Achondroplasia, severe, with developmental delay and acanthosis nigricans: A severe form of achondroplasia associated with developmental delay and acanthosis nigricans. Patients manifest short-limb dwarfism, with a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. Acanthosis nigricans is a skin condition characterized by brown-pigmented, velvety verrucosities in body folds and creases.

MalaCards based summary: Saddan, also known as achondroplasia, severe, with developmental delay and acanthosis nigricans, is related to achondroplasia and acanthosis nigricans, and has symptoms including seizures, cognitive impairment and abnormality of the clavicle. An important gene associated with Saddan is FGFR3 (Fibroblast Growth Factor Receptor 3). Affiliated tissues include skin, brain and bone.

Genetics Home Reference:25 SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities.

Description from OMIM:52 616482

Related Diseases for Saddan

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

idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia9.9
2acanthosis nigricans9.9
3skeletal dysplasias9.9
4skeletal dysplasia9.9

Symptoms & Phenotypes for Saddan

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Symptoms by clinical synopsis from OMIM:

616482

Clinical features from OMIM:

616482

Human phenotypes related to Saddan:

 64 54 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures64 hallmark (90%) HP:0001250
2 cognitive impairment64 hallmark (90%) HP:0100543
3 abnormality of the clavicle64 54 typical (50%) Frequent (79-30%) HP:0000889
4 abnormality of the femur64 typical (50%) HP:0002823
5 abnormality of the fibula64 typical (50%) HP:0002991
6 abnormality of the tibia64 typical (50%) HP:0002992
7 exotropia64 rare (5%) HP:0000577
8 congestive heart failure64 rare (5%) HP:0001635
9 gastroesophageal reflux64 rare (5%) HP:0002020
10 pulmonary hypertension64 rare (5%) HP:0002092
11 severe myopia64 rare (5%) HP:0011003
12 hydrocephalus64 HP:0000238
13 wide anterior fontanel64 HP:0000260
14 otitis media64 HP:0000388
15 platyspondyly64 HP:0000926
16 acanthosis nigricans64 54 Very frequent (99-80%) HP:0000956
17 intellectual disability64 HP:0001249
18 global developmental delay64 HP:0001263
19 megalencephaly64 HP:0001355
20 frontal bossing64 HP:0002007
21 hypoplasia of the corpus callosum64 54 Very frequent (99-80%) HP:0002079
22 kyphosis64 HP:0002808
23 central apnea64 HP:0002871
24 lumbar hyperlordosis64 HP:0002938
25 mesomelia64 HP:0003027
26 severe short stature64 HP:0003510
27 depressed nasal bridge64 HP:0005280
28 rhizomelia64 HP:0008905
29 sleep apnea64 HP:0010535
30 midface retrusion64 HP:0011800
31 microcephaly54 Frequent (79-30%)
32 generalized seizures54 Very frequent (99-80%)
33 femoral bowing54 Frequent (79-30%)
34 tibial bowing54 Frequent (79-30%)
35 metaphyseal chondrodysplasia54 Very frequent (99-80%)
36 aplasia/hypoplasia of the mandible54 Very frequent (99-80%)
37 fibular bowing54 Frequent (79-30%)
38 intellectual disability, severe54 Very frequent (99-80%)
39 severe global developmental delay54 Very frequent (99-80%)
40 enlarged cerebellum54 Very frequent (99-80%)
41 brain atrophy54 Very frequent (99-80%)

Drugs & Therapeutics for Saddan

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Interventional clinical trials:

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 Nigricans27
2 Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (saddan)24 FGFR3

Anatomical Context for Saddan

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MalaCards organs/tissues related to Saddan:

36
Skin, Brain, Bone, Cerebellum, Heart

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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UniProtKB/Swiss-Prot genetic disease variations for Saddan:

70
id Symbol AA change Variation ID SNP ID
1FGFR3p.Lys650MetVAR_004161rs121913105

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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GO Terms for genes affiliated with Saddan

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Sources for Saddan

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet