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

Aliases & Descriptions for Saddan:

Name: Saddan 54 71 25 56 66
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 54 25 66 69
Ssb Syndrome 71 50 24 25
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 50 24 25
Saddan Dysplasia 50 25 66
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome 56 29
Skeleton Skin Brain Syndrome 50
Skeletal-Skin-Brain Syndrome 24
Skeleton-Skin-Brain Syndrome 25
Saddan Syndrome 24

Characteristics:

Orphanet epidemiological data:

56
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
saddan:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 616482
Orphanet 56 ORPHA85165
UMLS via Orphanet 70 C2674173
ICD10 via Orphanet 34 Q77.4
MedGen 40 CN231689
MeSH 42 D000130

Summaries for Saddan

UniProtKB/Swiss-Prot : 66 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 brain atrophy, microcephaly and intellectual disability, severe. 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: 616482

Related Diseases for Saddan

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

id Related Disease Score Top Affiliating Genes
1 achondroplasia 9.9
2 acanthosis nigricans 9.9
3 skeletal dysplasias 9.9
4 skeletal dysplasia 9.9

Symptoms & Phenotypes for Saddan

Symptoms by clinical synopsis from OMIM:

616482

Clinical features from OMIM:

616482

Human phenotypes related to Saddan:

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brain atrophy 56 32 Very frequent (99-80%) HP:0012444
2 microcephaly 56 32 Frequent (79-30%) HP:0000252
3 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
4 acanthosis nigricans 56 32 Very frequent (99-80%) HP:0000956
5 severe global developmental delay 56 32 Very frequent (99-80%) HP:0011344
6 aplasia/hypoplasia of the mandible 56 32 Very frequent (99-80%) HP:0009118
7 metaphyseal chondrodysplasia 56 32 Very frequent (99-80%) HP:0005871
8 generalized seizures 56 32 Very frequent (99-80%) HP:0002197
9 abnormality of the clavicle 56 32 Frequent (79-30%) HP:0000889
10 hypoplasia of the corpus callosum 56 32 Very frequent (99-80%) HP:0002079
11 femoral bowing 56 32 Frequent (79-30%) HP:0002980
12 tibial bowing 56 32 Frequent (79-30%) HP:0002982
13 fibular bowing 56 32 Frequent (79-30%) HP:0010502
14 enlarged cerebellum 56 32 Very frequent (99-80%) HP:0012081
15 seizures 32 HP:0001250
16 frontal bossing 32 HP:0002007
17 hydrocephalus 32 HP:0000238
18 intellectual disability 32 HP:0001249
19 megalencephaly 32 HP:0001355
20 kyphosis 32 HP:0002808
21 sleep apnea 32 HP:0010535
22 global developmental delay 32 HP:0001263
23 depressed nasal bridge 32 HP:0005280
24 gastroesophageal reflux 32 HP:0002020
25 platyspondyly 32 HP:0000926
26 congestive heart failure 32 HP:0001635
27 rhizomelia 32 HP:0008905
28 otitis media 32 HP:0000388
29 severe short stature 32 HP:0003510
30 midface retrusion 32 HP:0011800
31 wide anterior fontanel 32 HP:0000260
32 central apnea 32 HP:0002871
33 lumbar hyperlordosis 32 HP:0002938
34 severe myopia 32 HP:0011003
35 mesomelia 32 HP:0003027
36 exotropia 32 HP:0000577
37 pulmonary arterial hypertension 32 HP:0002092

UMLS symptoms related to Saddan:


seizures

Drugs & Therapeutics for Saddan

Search Clinical Trials , NIH Clinical Center for Saddan

Genetic Tests for Saddan

Genetic tests related to Saddan:

id Genetic test Affiliating Genes
1 Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 29
2 Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (saddan) 24 FGFR3

Anatomical Context for Saddan

MalaCards organs/tissues related to Saddan:

39
Skin, Brain, Bone, Heart, Cerebellum

Publications for Saddan

Articles related to Saddan:

id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Saddan:

66
id Symbol AA change Variation ID SNP ID
1 FGFR3 p.Lys650Met VAR_004161 rs121913105

Expression for Saddan

Search GEO for disease gene expression data for Saddan.

Pathways for Saddan

GO Terms for Saddan

Sources for Saddan

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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