MCID: SDD003
MIFTS: 32

Saddan

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

Aliases & Classifications for Saddan

MalaCards integrated aliases for Saddan:

Name: Saddan 54 72 25 56 71
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 50 24 25 29
Ssb Syndrome 72 50 24 25
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 25 71 69
Saddan Dysplasia 50 25 71
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome 56
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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
clinical overlap with thanatophoric dysplasia i and severe achondroplasia


HPO:

32
saddan:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Saddan

UniProtKB/Swiss-Prot : 71 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 severe achondroplasia with developmental delay and acanthosis nigricans, is related to achondroplasia and acanthosis nigricans, and has symptoms including intellectual disability, severe, generalized seizures and microcephaly. 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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
thin corpus callosum
developmental delay
seizures
hydrocephalus
central apnea
more
Skeletal- Spine:
platyspondyly
kyphosis
lumbar lordosis
cervical spinal stenosis

Cardiovascular- Heart:
congestive heart failure (in some patients)

Head And Neck- Ears:
otitis media
hearing loss, mild-to-moderate

Head And Neck- Head:
large anterior fontanel
megalencephaly

Growth- Height:
dwarfism
short stature, severe disproportionate

Respiratory:
respiratory compromise at birth
sleep apnea

Abdomen- Gastroin testinal:
gastroesophageal reflux (in some patients)

Skeletal- Pelvis:
posterior rotation of hips

Head And Neck- Nose:
depressed nasal bridge

Head And Neck- Face:
midface hypoplasia
frontal bossing

Head And Neck- Eyes:
high myopia (in some patients)
exotropia (in some patients)

Skeletal- Limbs:
mesomelia
rhizomelia
anterior bowing of femora
posterior bowing of tibiae

Skin Nails & Hair- Skin:
acanthosis nigricans
redundant skin folds on upper and lower limbs

Cardiovascular- Vascular:
pulmonary hypertension (in some patients)

Chest- External Features:
small chest with flaring costal margins

Skeletal- Skull:
overgrowth of mandible in adults
pneumatization of the sinuses


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 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
2 generalized seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002197
3 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
4 femoral bowing 56 32 frequent (33%) Frequent (79-30%) HP:0002980
5 tibial bowing 56 32 frequent (33%) Frequent (79-30%) HP:0002982
6 hypoplasia of the corpus callosum 56 32 hallmark (90%) Very frequent (99-80%) HP:0002079
7 brain atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0012444
8 acanthosis nigricans 56 32 hallmark (90%) Very frequent (99-80%) HP:0000956
9 enlarged cerebellum 56 32 hallmark (90%) Very frequent (99-80%) HP:0012081
10 metaphyseal chondrodysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0005871
11 severe global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0011344
12 aplasia/hypoplasia of the mandible 56 32 hallmark (90%) Very frequent (99-80%) HP:0009118
13 abnormality of the clavicle 56 32 frequent (33%) Frequent (79-30%) HP:0000889
14 fibular bowing 56 32 frequent (33%) Frequent (79-30%) HP:0010502
15 seizures 32 HP:0001250
16 hydrocephalus 32 HP:0000238
17 depressed nasal bridge 32 HP:0005280
18 lumbar hyperlordosis 32 HP:0002938
19 platyspondyly 32 HP:0000926
20 kyphosis 32 HP:0002808
21 frontal bossing 32 HP:0002007
22 global developmental delay 32 HP:0001263
23 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
24 intellectual disability 32 HP:0001249
25 congestive heart failure 32 occasional (7.5%) HP:0001635
26 midface retrusion 32 HP:0011800
27 wide anterior fontanel 32 HP:0000260
28 otitis media 32 HP:0000388
29 mesomelia 32 HP:0003027
30 rhizomelia 32 HP:0008905
31 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
32 exotropia 32 occasional (7.5%) HP:0000577
33 megalencephaly 32 HP:0001355
34 sleep apnea 32 HP:0010535
35 central apnea 32 HP:0002871
36 severe myopia 32 occasional (7.5%) HP:0011003
37 severe short stature 32 HP:0003510

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:

71
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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