SADDAN
MCID: SDD003
MIFTS: 30

Saddan (SADDAN) malady

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

Aliases & Classifications for Saddan

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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

HPO:

64
saddan:
Inheritance: autosomal dominant inheritance

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, seizures and Array. 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:

 54 64 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 Frequent (79-30%) HP:0000252
2 abnormality of the clavicle64 54 Frequent (79-30%) HP:0000889
3 acanthosis nigricans64 54 Very frequent (99-80%) HP:0000956
4 hypoplasia of the corpus callosum64 54 Very frequent (99-80%) HP:0002079
5 generalized seizures64 54 Very frequent (99-80%) HP:0002197
6 femoral bowing64 54 Frequent (79-30%) HP:0002980
7 tibial bowing64 54 Frequent (79-30%) HP:0002982
8 metaphyseal chondrodysplasia64 54 Very frequent (99-80%) HP:0005871
9 aplasia/hypoplasia of the mandible64 54 Very frequent (99-80%) HP:0009118
10 fibular bowing64 54 Frequent (79-30%) HP:0010502
11 intellectual disability, severe64 54 Very frequent (99-80%) HP:0010864
12 severe global developmental delay64 54 Very frequent (99-80%) HP:0011344
13 enlarged cerebellum64 54 Very frequent (99-80%) HP:0012081
14 brain atrophy64 54 Very frequent (99-80%) HP:0012444
15 hydrocephalus64 HP:0000238
16 wide anterior fontanel64 HP:0000260
17 otitis media64 HP:0000388
18 exotropia64 HP:0000577
19 platyspondyly64 HP:0000926
20 intellectual disability64 HP:0001249
21 seizures64 HP:0001250
22 global developmental delay64 HP:0001263
23 megalencephaly64 HP:0001355
24 congestive heart failure64 HP:0001635
25 frontal bossing64 HP:0002007
26 gastroesophageal reflux64 HP:0002020
27 pulmonary arterial hypertension64 HP:0002092
28 kyphosis64 HP:0002808
29 central apnea64 HP:0002871
30 lumbar hyperlordosis64 HP:0002938
31 mesomelia64 HP:0003027
32 severe short stature64 HP:0003510
33 depressed nasal bridge64 HP:0005280
34 rhizomelia64 HP:0008905
35 sleep apnea64 HP:0010535
36 severe myopia64 HP:0011003
37 midface retrusion64 HP:0011800

UMLS symptoms related to Saddan:


seizures

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