MCID: SDD003
MIFTS: 29

Saddan malady

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

Aliases & Classifications for Saddan

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Sources:
49OMIM, 68Wikipedia, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 22GeneTests, 65UMLS, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all MalaCards sources

Aliases & Descriptions for Saddan:

Name: Saddan 49 68 23 51 67
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 68 45 22 23
Ssb Syndrome 68 45 22 23
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 23 67 65
Saddan Dysplasia 45 23 67
 
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome 51 24
Skeleton-Skin-Brain Syndrome 68 23
Skeleton Skin Brain Syndrome 45
Skeletal-Skin-Brain Syndrome 22
Saddan Syndrome 22

Characteristics:

Orphanet epidemiological data:

51
saddan:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

OMIM49 616482
Orphanet51 85165
ICD10 via Orphanet28 Q77.4
UMLS via Orphanet66 C2674173
MedGen34 CN231689
MeSH36 D000130
UMLS65 C2674173

Summaries for Saddan

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UniProtKB/Swiss-Prot:67 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 sarcoma and down syndrome, 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:23 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:49 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
1sarcoma10.4
2down syndrome10.4

Symptoms for Saddan

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Symptoms by clinical synopsis from OMIM:

616482

Clinical features from OMIM:

616482

Symptoms:

 51 (show all 7)
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • anomalies of bones/skeletal anomalies
  • clavicle absent/abnormal
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly

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 Nigricans (saddan)22 FGFR3

Anatomical Context for Saddan

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MalaCards organs/tissues related to Saddan:

33
Skin, Brain, Bone, 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
Caring for the infant with neonatal abstinence syndrome in a community-based setting. (25062515)
2014
2
Expanding the clinical spectrum of MYCN-related Feingold syndrome. (16906565)
2006
3
A splice site mutation in the gene of the human type I hair keratin hHa1 results in the expression of a tailless keratin isoform. (9405442)
1997
4
Characterization of three T-lymphoid cell lines with distinct sensitivities to deoxyadenosine plus deoxycoformycin. (1373528)
1992

Variations for Saddan

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UniProtKB/Swiss-Prot genetic disease variations for Saddan:

67
id Symbol AA change Variation ID SNP ID
1FGFR3p.Lys650MetVAR_004161

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet