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:
50OMIM, 69Wikipedia, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH
See all MalaCards sources

Aliases & Descriptions for Saddan:

Name: Saddan 50 69 24 52 68
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 50 24 68 66
Ssb Syndrome 69 46 23 24
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 46 23 24
Saddan Dysplasia 46 24 68
 
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome 52 25
Skeleton Skin Brain Syndrome 46
Skeletal-Skin-Brain Syndrome 23
Skeleton-Skin-Brain Syndrome 24
Saddan Syndrome 23

Characteristics:

Orphanet epidemiological data:

52
saddan:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

OMIM50 616482
Orphanet52 ORPHA85165
ICD10 via Orphanet29 Q77.4
UMLS via Orphanet67 C2674173
MedGen35 CN231689
MeSH37 D000130

Summaries for Saddan

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UniProtKB/Swiss-Prot:68 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:24 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:50 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
1achondroplasia10.1
2acanthosis nigricans10.1
3skeletal dysplasias10.1
4skeletal dysplasia10.1

Symptoms for Saddan

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Symptoms by clinical synopsis from OMIM:

616482

Clinical features from OMIM:

616482

Symptoms:

 52 (show all 14)
  • microcephaly
  • abnormality of the clavicle
  • acanthosis nigricans
  • hypoplasia of the corpus callosum
  • generalized seizures
  • femoral bowing
  • tibial bowing
  • metaphyseal chondrodysplasia
  • aplasia/hypoplasia of the mandible
  • fibular bowing
  • intellectual disability, severe
  • severe global developmental delay
  • enlarged cerebellum
  • brain atrophy

HPO human phenotypes related to Saddan:

(show all 31)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 cognitive impairment hallmark (90%) HP:0100543
3 abnormality of the clavicle 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
7 exotropia rare (5%) HP:0000577
8 congestive heart failure rare (5%) HP:0001635
9 gastroesophageal reflux rare (5%) HP:0002020
10 pulmonary hypertension rare (5%) HP:0002092
11 severe myopia rare (5%) HP:0011003
12 hydrocephalus HP:0000238
13 wide anterior fontanel HP:0000260
14 otitis media HP:0000388
15 platyspondyly HP:0000926
16 acanthosis nigricans HP:0000956
17 intellectual disability HP:0001249
18 seizures HP:0001250
19 global developmental delay HP:0001263
20 megalencephaly HP:0001355
21 frontal bossing HP:0002007
22 hypoplasia of the corpus callosum HP:0002079
23 kyphosis HP:0002808
24 central apnea HP:0002871
25 lumbar hyperlordosis HP:0002938
26 mesomelia HP:0003027
27 severe short stature HP:0003510
28 depressed nasal bridge HP:0005280
29 rhizomelia HP:0008905
30 sleep apnea HP:0010535
31 midface retrusion HP:0011800

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 Nigricans25
2 Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (saddan)23 FGFR3

Anatomical Context for Saddan

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MalaCards organs/tissues related to Saddan:

34
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:

68
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet