MCID: ACH043
MIFTS: 31

Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans

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

Aliases & Classifications for Achondroplasia, Severe, with Developmental Delay and Acanthosis...

MalaCards integrated aliases for Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans:

Name: Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 57 25 75 73
Saddan 57 12 76 25 59 75 37 40
Saddan Dysplasia 57 12 53 25 75
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 12 53 25 29
Ssb Syndrome 53 25
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome 59
Skeleton Skin Brain Syndrome 53
Skeleton-Skin-Brain Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
clinical overlap with thanatophoric dysplasia i and severe achondroplasia


HPO:

32
achondroplasia, severe, with developmental delay and acanthosis nigricans:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Achondroplasia, Severe, with Developmental Delay and Acanthosis...

UniProtKB/Swiss-Prot : 75 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 : Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans, also known as saddan, is related to acanthosis nigricans and achondroplasia, and has symptoms including seizures An important gene associated with Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are MAPK signaling pathway and Ras signaling pathway. Affiliated tissues include skin, brain and bone, and related phenotypes are microcephaly and abnormality of the clavicle

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.

Disease Ontology : 12 An autosomal dominant disease characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has material basis in heterozygous mutation in the FGFR3 gene on chromosome 4p16.

Wikipedia : 76 Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), is a very rare genetic... more...

Description from OMIM: 616482

Related Diseases for Achondroplasia, Severe, with Developmental Delay and Acanthosis...

Diseases related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acanthosis nigricans 10.0
2 achondroplasia 10.0
3 skeletal dysplasias 10.0
4 thanatophoric dysplasia, type i 9.9

Symptoms & Phenotypes for Achondroplasia, Severe, with Developmental Delay and Acanthosis...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
midface hypoplasia

Head And Neck Head:
megalencephaly
large anterior fontanel

Respiratory:
sleep apnea
respiratory compromise at birth

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

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

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

Cardiovascular Vascular:
pulmonary hypertension (in some patients)

Chest External Features:
small chest with flaring costal margins

Skeletal Pelvis:
posterior rotation of hips

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

Head And Neck Nose:
depressed nasal bridge

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

Growth Height:
dwarfism
short stature, severe disproportionate

Abdomen Gastrointestinal:
gastroesophageal reflux (in some patients)

Cardiovascular Heart:
congestive heart failure (in some patients)

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


Clinical features from OMIM:

616482

Human phenotypes related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
2 abnormality of the clavicle 59 32 frequent (33%) Frequent (79-30%) HP:0000889
3 acanthosis nigricans 59 32 hallmark (90%) Very frequent (99-80%) HP:0000956
4 hypoplasia of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002079
5 generalized seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002197
6 femoral bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002980
7 tibial bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002982
8 metaphyseal chondrodysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005871
9 aplasia/hypoplasia of the mandible 59 32 hallmark (90%) Very frequent (99-80%) HP:0009118
10 fibular bowing 59 32 frequent (33%) Frequent (79-30%) HP:0010502
11 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
12 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
13 enlarged cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0012081
14 brain atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0012444
15 hydrocephalus 32 HP:0000238
16 wide anterior fontanel 32 HP:0000260
17 hearing impairment 32 HP:0000365
18 otitis media 32 HP:0000388
19 exotropia 32 occasional (7.5%) HP:0000577
20 platyspondyly 32 HP:0000926
21 intellectual disability 32 HP:0001249
22 seizures 32 HP:0001250
23 global developmental delay 32 HP:0001263
24 megalencephaly 32 HP:0001355
25 congestive heart failure 32 occasional (7.5%) HP:0001635
26 frontal bossing 32 HP:0002007
27 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
28 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
29 kyphosis 32 HP:0002808
30 central apnea 32 HP:0002871
31 lumbar hyperlordosis 32 HP:0002938
32 mesomelia 32 HP:0003027
33 severe short stature 32 HP:0003510
34 depressed nasal bridge 32 HP:0005280
35 rhizomelia 32 HP:0008905
36 sleep apnea 32 HP:0010535
37 high myopia 32 occasional (7.5%) HP:0011003
38 midface retrusion 32 HP:0011800

UMLS symptoms related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans:


seizures

Drugs & Therapeutics for Achondroplasia, Severe, with Developmental Delay and Acanthosis...

Search Clinical Trials , NIH Clinical Center for Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans

Genetic Tests for Achondroplasia, Severe, with Developmental Delay and Acanthosis...

Genetic tests related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans:

# Genetic test Affiliating Genes
1 Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 29 FGFR3

Anatomical Context for Achondroplasia, Severe, with Developmental Delay and Acanthosis...

MalaCards organs/tissues related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans:

41
Skin, Brain, Bone, Heart, Cerebellum

Publications for Achondroplasia, Severe, with Developmental Delay and Acanthosis...

Articles related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans:

# Title Authors Year
1
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. ( 24352917 )
2014
2
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. ( 18076102 )
2008
3
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 Achondroplasia, Severe, with Developmental Delay and Acanthosis...

UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans:

75
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Lys650Met VAR_004161 rs121913105

Expression for Achondroplasia, Severe, with Developmental Delay and Acanthosis...

Search GEO for disease gene expression data for Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans.

Pathways for Achondroplasia, Severe, with Developmental Delay and Acanthosis...

Pathways related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Ras signaling pathway hsa04014
3 Rap1 signaling pathway hsa04015
4 PI3K-Akt signaling pathway hsa04151
5 Regulation of actin cytoskeleton hsa04810

GO Terms for Achondroplasia, Severe, with Developmental Delay and Acanthosis...

Sources for Achondroplasia, Severe, with Developmental Delay and Acanthosis...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....