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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Saddan:

Name: Saddan 51 70 25 53 69
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 51 25 69 67
Ssb Syndrome 70 47 24 25
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 47 24 25
Saddan Dysplasia 47 25 69
 
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome 53 26
Skeleton Skin Brain Syndrome 47
Skeletal-Skin-Brain Syndrome 24
Skeleton-Skin-Brain Syndrome 25
Saddan Syndrome 24

Characteristics:

Orphanet epidemiological data:

53
saddan:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

OMIM51 616482
Orphanet53 ORPHA85165
UMLS via Orphanet68 C2674173
ICD10 via Orphanet30 Q77.4
MedGen36 CN231689
MeSH38 D000130

Summaries for Saddan

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UniProtKB/Swiss-Prot:69 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:51 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 for Saddan

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Symptoms by clinical synopsis from OMIM:

616482

Clinical features from OMIM:

616482

Human phenotypes related to Saddan:

 63 53 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures63 hallmark (90%) HP:0001250
2 cognitive impairment63 hallmark (90%) HP:0100543
3 abnormality of the clavicle63 53 typical (50%) Frequent (79-30%) HP:0000889
4 abnormality of the femur63 typical (50%) HP:0002823
5 abnormality of the fibula63 typical (50%) HP:0002991
6 abnormality of the tibia63 typical (50%) HP:0002992
7 exotropia63 rare (5%) HP:0000577
8 congestive heart failure63 rare (5%) HP:0001635
9 gastroesophageal reflux63 rare (5%) HP:0002020
10 pulmonary hypertension63 rare (5%) HP:0002092
11 severe myopia63 rare (5%) HP:0011003
12 hydrocephalus63 HP:0000238
13 wide anterior fontanel63 HP:0000260
14 otitis media63 HP:0000388
15 platyspondyly63 HP:0000926
16 acanthosis nigricans63 53 Very frequent (99-80%) HP:0000956
17 intellectual disability63 HP:0001249
18 global developmental delay63 HP:0001263
19 megalencephaly63 HP:0001355
20 frontal bossing63 HP:0002007
21 hypoplasia of the corpus callosum63 53 Very frequent (99-80%) HP:0002079
22 kyphosis63 HP:0002808
23 central apnea63 HP:0002871
24 lumbar hyperlordosis63 HP:0002938
25 mesomelia63 HP:0003027
26 severe short stature63 HP:0003510
27 depressed nasal bridge63 HP:0005280
28 rhizomelia63 HP:0008905
29 sleep apnea63 HP:0010535
30 midface retrusion63 HP:0011800
31 microcephaly53 Frequent (79-30%)
32 generalized seizures53 Very frequent (99-80%)
33 femoral bowing53 Frequent (79-30%)
34 tibial bowing53 Frequent (79-30%)
35 metaphyseal chondrodysplasia53 Very frequent (99-80%)
36 aplasia/hypoplasia of the mandible53 Very frequent (99-80%)
37 fibular bowing53 Frequent (79-30%)
38 intellectual disability, severe53 Very frequent (99-80%)
39 severe global developmental delay53 Very frequent (99-80%)
40 enlarged cerebellum53 Very frequent (99-80%)
41 brain atrophy53 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 Nigricans26
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:

35
Skin, Brain, Bone, Cerebellum, Heart

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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UniProtKB/Swiss-Prot genetic disease variations for Saddan:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet