SADDAN
MCID: ACH043
MIFTS: 59

Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans (SADDAN)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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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 42 73 71
Saddan 57 11 19 42 58 75 73 14 38
Saddan Dysplasia 57 11 19 42 73
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 11 19 42 75
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome 19 58 28 5
Ssb Syndrome 19 42
Skeleton Skin Brain Syndrome 19
Skeleton-Skin-Brain Syndrome 42
Achondroplasia 43

Characteristics:


Inheritance:

Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans: Autosomal dominant 57
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome: Autosomal dominant 58

Prevelance:

Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
clinical overlap with thanatophoric dysplasia i and severe achondroplasia


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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

MedlinePlus Genetics: 42 SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities.All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg bones; a small chest with short ribs and curved collar bones; short, broad fingers; and folds of extra skin on the arms and legs. Structural abnormalities of the brain cause seizures, profound developmental delay, and intellectual disability. Several affected individuals also have had episodes in which their breathing slows or stops for short periods (apnea). Acanthosis nigricans, a progressive skin disorder characterized by thick, dark, velvety skin, is another characteristic feature of SADDAN that develops in infancy or early childhood.

MalaCards based summary: Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans, also known as saddan, is related to achondroplasia and hypochondroplasia, 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 ERK Signaling and Disease. The drugs Hormones and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are intellectual disability, severe and aplasia/hypoplasia of the mandible

GARD: 19 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

Orphanet: 58 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has material basis in heterozygous mutation in the FGFR3 gene on chromosome 4p16.

Wikipedia: 75 Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic... more...

More information 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:

(show top 50) (show all 358)
# Related Disease Score Top Affiliating Genes
1 achondroplasia 32.5 PTH1R NPPC FGFR3 FGFR2 FGFR1
2 hypochondroplasia 30.5 NPR2 NPPC IHH FGFR4 FGFR3 FGFR2
3 nevus, epidermal 30.4 FGFR3 FGFR2 FGFR1
4 crouzon syndrome with acanthosis nigricans 30.3 FGFR3 FGFR2
5 spondyloepiphyseal dysplasia congenita 30.1 TRAPPC2 FGFR3
6 synostosis 30.0 IHH FGFR3 FGFR2 FGFR1
7 plagiocephaly 29.9 FGFR3 FGFR2 FGFR1
8 spondyloepiphyseal dysplasia with congenital joint dislocations 29.9 TRAPPC2 IHH FGFR3
9 enchondromatosis, multiple, ollier type 29.7 PTH1R IHH FGFR3
10 spondyloepimetaphyseal dysplasia, strudwick type 29.7 PTH1R IHH FGFR3
11 bone disease 29.7 TRAPPC2 PTH1R FGFR3 FGFR2 FGFR1
12 scoliosis 29.7 NPR2 FGFR3 FGFR2 FGFR1
13 isolated growth hormone deficiency, type ia 29.7 PTH1R NPR2 NPPC FGFR3 FGFR2
14 muenke syndrome 29.7 FGFR4 FGFR3 FGFR2 FGFR1
15 brittle bone disorder 29.6 PTH1R IHH FGFR3
16 pfeiffer syndrome 29.6 FGFR3 FGFR2 FGFR1
17 dysostosis 29.6 IHH FGFR3 FGFR2 FGFR1
18 tooth agenesis 29.4 PTH1R FGFR2 FGFR1
19 acromesomelic dysplasia 1 29.3 NPR2 NPPC FGFR3
20 lacrimoauriculodentodigital syndrome 29.2 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
21 cleft palate, isolated 29.2 IHH FGFR3 FGFR2 FGFR1 FGF18
22 acromesomelic dysplasia 29.0 NPR2 NPPC IHH FGFR3
23 leri-weill dyschondrosteosis 29.0 NPR2 NPPC IHH FGFR3
24 brachydactyly 28.9 NPR2 IHH FGFR3
25 craniosynostosis 28.8 NPR2 IHH FRS2 FGFR4 FGFR3 FGFR2
26 osteochondrodysplasia 28.4 TRAPPC2 STAT1 PTH1R NPR2 NPPC IHH
27 thanatophoric dysplasia, type i 28.3 STAT1 PTH1R NPR2 NPPC IHH FRS2
28 camptodactyly-tall stature-scoliosis-hearing loss syndrome 28.3 PTH1R NPR2 NPPC IHH FGFR3 FGF18
29 crouzon syndrome 27.7 NPR2 NPPC IHH FRS2 FGFR4 FGFR3
30 short-limb skeletal dysplasia with severe combined immunodeficiency 11.6
31 hydrocephalus, congenital, 1 11.0
32 pseudoachondroplasia 11.0
33 mesomelia 11.0
34 spinal stenosis 10.6
35 hydrocephalus 10.6
36 apnea, obstructive sleep 10.5
37 sleep apnea 10.4
38 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
39 spinal cord disease 10.4
40 acanthosis nigricans 10.3
41 otitis media 10.2
42 hemifacial hyperplasia 10.2 FGFR3 FGFR2
43 testicular spermatocytic seminoma 10.2 FGFR3 FGFR2
44 down syndrome 10.2
45 hypotonia 10.2
46 luteoma 10.2 FGFR3 FGFR2
47 acanthoma 10.2 FGFR3 FGFR2
48 overgrowth syndrome 10.2
49 cartilage disease 10.1
50 radiculopathy 10.1

Graphical network of the top 20 diseases related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans:



Diseases related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans

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

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

58 30 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, severe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010864
2 aplasia/hypoplasia of the mandible 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009118
3 severe global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011344
4 acanthosis nigricans 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000956
5 generalized-onset seizure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002197
6 hypoplasia of the corpus callosum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002079
7 brain atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012444
8 metaphyseal chondrodysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005871
9 enlarged cerebellum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012081
10 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000252
11 femoral bowing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002980
12 tibial bowing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002982
13 fibular bowing 58 30 Frequent (33%) Frequent (79-30%)
HP:0010502
14 abnormal clavicle morphology 30 Frequent (33%) HP:0000889
15 gastroesophageal reflux 30 Occasional (7.5%) HP:0002020
16 congestive heart failure 30 Occasional (7.5%) HP:0001635
17 pulmonary arterial hypertension 30 Occasional (7.5%) HP:0002092
18 high myopia 30 Occasional (7.5%) HP:0011003
19 exotropia 30 Occasional (7.5%) HP:0000577
20 intellectual disability 30 HP:0001249
21 seizure 30 HP:0001250
22 megalencephaly 30 HP:0001355
23 frontal bossing 30 HP:0002007
24 kyphosis 30 HP:0002808
25 sleep apnea 30 HP:0010535
26 hydrocephalus 30 HP:0000238
27 hearing impairment 30 HP:0000365
28 global developmental delay 30 HP:0001263
29 depressed nasal bridge 30 HP:0005280
30 platyspondyly 30 HP:0000926
31 otitis media 30 HP:0000388
32 redundant skin 30 HP:0001582
33 abnormality of the clavicle 58 Frequent (79-30%)
34 midface retrusion 30 HP:0011800
35 wide anterior fontanel 30 HP:0000260
36 lumbar hyperlordosis 30 HP:0002938
37 severe short stature 30 HP:0003510
38 rhizomelia 30 HP:0008905
39 central apnea 30 HP:0002871
40 mesomelia 30 HP:0003027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
megalencephaly
large anterior fontanel

Skeletal Spine:
kyphosis
platyspondyly
lumbar lordosis
cervical spinal stenosis

Neurologic Central Nervous System:
hydrocephalus
central apnea
thin corpus callosum
seizures
developmental delay
more
Head And Neck Ears:
otitis media
hearing loss, mild-to-moderate

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

Cardiovascular Vascular:
pulmonary hypertension (in some patients)

Abdomen Gastrointestinal:
gastroesophageal reflux (in some patients)

Chest External Features:
small chest with flaring costal margins

Skeletal Pelvis:
posterior rotation of hips

Head And Neck Face:
frontal bossing
midface hypoplasia

Respiratory:
sleep apnea
respiratory compromise at birth

Head And Neck Nose:
depressed nasal bridge

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

Growth Height:
dwarfism
short stature, severe disproportionate

Head And Neck Eyes:
exotropia (in some patients)
high myopia (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 (Updated 08-Dec-2022)

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


seizures

GenomeRNAi Phenotypes related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 8.92 FGFR2
2 Decreased substrate adherent cell growth GR00193-A-3 8.92 FGFR2 FGFR3 NPR2

MGI Mouse Phenotypes related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.29 FGF16 FGF18 FGFR1 FGFR2 FGFR3 FGFR4
2 limbs/digits/tail MP:0005371 10.22 FGF18 FGFR1 FGFR2 FGFR3 FRS2 IHH
3 homeostasis/metabolism MP:0005376 10.21 FGF18 FGFR1 FGFR2 FGFR3 FGFR4 NPPC
4 nervous system MP:0003631 10.2 FGFR1 FGFR2 FGFR3 FRS2 IHH NPPC
5 craniofacial MP:0005382 10.13 FGF16 FGF18 FGFR1 FGFR2 FGFR3 FRS2
6 digestive/alimentary MP:0005381 10.06 FGF18 FGFR1 FGFR2 FGFR3 IHH NPR2
7 cellular MP:0005384 10.06 FGF16 FGF18 FGFR1 FGFR2 FGFR3 FGFR4
8 no phenotypic analysis MP:0003012 10.03 FGF16 FGFR1 FGFR2 FGFR3 IHH NPR2
9 cardiovascular system MP:0005385 10.02 FGF16 FGF18 FGFR1 FGFR2 FRS2 IHH
10 muscle MP:0005369 10.01 FGF16 FGFR1 FGFR2 IHH NPR2 STAT1
11 neoplasm MP:0002006 9.97 FGFR2 FGFR3 FGFR4 PTH1R STAT1
12 respiratory system MP:0005388 9.97 FGF18 FGFR2 FGFR3 FGFR4 IHH NPR2
13 hearing/vestibular/ear MP:0005377 9.89 FGF16 FGFR1 FGFR2 FGFR3 FRS2
14 reproductive system MP:0005389 9.86 FGF16 FGFR1 FGFR2 FGFR3 FGFR4 NPPC
15 skeleton MP:0005390 9.81 FGF18 FGFR1 FGFR2 FGFR3 IHH NPPC
16 vision/eye MP:0005391 9.56 FGFR1 FGFR2 FGFR3 FRS2 IHH PTH1R
17 mortality/aging MP:0010768 9.4 FGF16 FGF18 FGFR1 FGFR2 FGFR3 FGFR4

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

Drugs for Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4
2 Hormone Antagonists Phase 4
3 Natriuretic Peptide, C-Type Phase 3
4
Infigratinib Approved, Investigational Phase 2 872511-34-7 53235510
5
Mometasone furoate Approved, Investigational, Vet_approved Phase 2 83919-23-7 4240 441336
6
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 2 133585-56-5, 60-18-4, 556-02-5 1153 6057
7
Resveratrol Investigational Phase 2 501-36-0 445154
8 Mitogens Phase 2
9 Platelet Aggregation Inhibitors Phase 2
10 Antioxidants Phase 2
11 Protective Agents Phase 2

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Open-label, Single Arm Phase IV Clinical Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Children With Achondroplasia Not yet recruiting NCT05353192 Phase 4 Recombinant human growth hormone
2 A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Completed NCT03197766 Phase 3 BMN 111;Placebo
3 A Phase 3, Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03424018 Phase 3 BMN 111
4 A Phase 2b, Multicenter, Double-Blind, Randomized, Placebo-controlled Trial Evaluating Efficacy and Safety of Subcutaneous Doses of TransCon CNP Administered Once Weekly for 52 Weeks in Children With Achondroplasia Followed by an Open Label Extension Period Not yet recruiting NCT05598320 Phase 2, Phase 3 TransCon CNP;Placebo for TransCon CNP
5 A Phase 2, Open-label, Sequential Cohort Dose-escalation Study of BMN 111 in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
6 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia, Age 0 to < 60 Months Completed NCT03583697 Phase 2 BMN 111;Placebo
7 Phase 2, Open-Label, Dose-Escalation and Dose-Expansion Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children With Achondroplasia: PROPEL 2 Recruiting NCT04265651 Phase 2 Infigratinib 0.016 mg/kg;Infigratinib 0.032 mg/kg;Infigratinib 0.064 mg/kg;Infigratinib 0.128 mg/kg
8 A PHASE 2 MULTIPLE DOSE, RANDOMIZED STUDY TO ASSESS THE SAFETY, TOLERABILITY, PHARMACOKINETICS AND EFFICACY OF RECIFERCEPT IN CHILDREN WITH ACHONDROPLASIA Recruiting NCT04638153 Phase 2
9 ACcomplisH China: A Phase 2, Multicenter, Randomized, Placebo-controlled, Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of Multiple Subcutaneous Doses of TransCon CNP Administered Once Weekly in Children With Achondroplasia Recruiting NCT05246033 Phase 2 TransCon CNP;Placebo for TransCon CNP
10 Phase 2, Open-Label, Long-Term, Extension (OLE) Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children With Achondroplasia: PROPEL OLE Recruiting NCT05145010 Phase 2 Infigratinib
11 A Randomized, Controlled, Open-label Clinical Trial With an Open-label Extension to Investigate the Safety of Vosoritide in Infants and Young Children With Achondroplasia at Risk of Requiring Cervicomedullary Decompression Surgery Active, not recruiting NCT04554940 Phase 2
12 A Phase 2, Open-Label, Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of BMN 111 in Children With Achondroplasia Active, not recruiting NCT02724228 Phase 2 BMN 111
13 A PHASE 2 OPEN LABEL EXTENSION STUDY TO ASSESS THE LONG-TERM SAFETY, TOLERABILITY, PHARMACOKINETICS AND EFFICACY OF RECIFERCEPT IN CHILDREN WITH ACHONDROPLASIA Active, not recruiting NCT05116046 Phase 2
14 A Phase 2 Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03989947 Phase 2 Active BMN 111: Subcutaneous injection of recommended dose of BMN 111 based on weight-band dosing once daily.
15 ACcomplisH: A Phase 2, Multicenter, Double-blind, Randomized, Placebo-controlled, Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of Subcutaneous Doses of TransCon CNP Administered Once Weekly for 52 Weeks in Prepubertal Children With Achondroplasia Followed by an Open-Label Extension Period Enrolling by invitation NCT04085523 Phase 2 TransCon CNP;Placebo for TransCon CNP;sWfI Placebo for TransCon CNP
16 Resveratrol Trial for Relief of Pain in Pseudoachondroplasia Terminated NCT03866200 Phase 2 resveratrol;Placebo
17 A Phase 1, Two-Part, Double-Blind, Placebo-Controlled Study to Evaluate Safety, Tolerability, and Pharmacokinetics of Single and Multiple Doses of BMN 111 Administered to Healthy Adult Volunteers Completed NCT01590446 Phase 1 BMN 111;Normal Saline
18 Retrospective Clinical Study to Evaluate of Cranio-vertebral Abnormalities Through Radiological Analysis in Patients With Achondroplasia Treated/Followed at the Hôpital Femme Mère Enfant Unknown status NCT04184817
19 The Norwegian Adult Achondroplasia Study Completed NCT03780153
20 Lifetime Impact Study for Achondroplasia (LISA) Completed NCT03872531
21 Issues Surrounding Prenatal Genetic Testing for Achondroplasia Completed NCT00001536
22 A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Completed NCT01603095
23 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
24 Open-label, Multicenter, Observational, Non-intervention Study to Retrospectively Evaluate the Efficacy of Norditropin® (Adult Height) in Patients With Achondroplasia/Hypochondroplasia Enrolled in the GH-1941 Study [Follow-up Survey] Completed NCT01435629 somatropin
25 Specific Survey of Norditropin® in Achondroplasia: Survey for Long-term Application Completed NCT01516229 somatropin
26 The Impact of Achondroplasia on Quality of Life, Healthcare Resource Use, Clinical, Socio-economic and Psychosocial State of the Individual. Completed NCT03449368
27 ACHieve: A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia Recruiting NCT03875534
28 Local Registry for Data Collection of Patients With Achondroplasia / Hypochondroplasia for Epidemiological, Care and Research Studies Recruiting NCT05328050
29 Prospective Clinical Assessment Study in Children With Achondroplasia: The PROPEL Trial Recruiting NCT04035811
30 Adaption and Testing of the Quality of Life in Short Stature Youth (QoLISSY) Questionnaire for Parents With Children From 0-4 Recruiting NCT05603936
31 An International, Prospective Registry Investigating the Natural History of Participants With Achondroplasia Active, not recruiting NCT03794609
32 Achondroplasia Natural History Multicenter Clinical Study Enrolling by invitation NCT02597881

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

Cochrane evidence based reviews: achondroplasia

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-Developmental Delay-Acanthosis Nigricans Syndrome 28 FGFR3

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

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

MalaCards : Skin, Brain, Bone, Cerebellum, Heart, Bone Marrow

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

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

(show all 32)
# Title Authors PMID Year
1
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. 62 57
18076102 2008
2
Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice. 62 57
11406607 2001
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. 62 57
10377013 1999
4
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. 62 57
10053006 1999
5
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 5
16912704 2006
6
Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLCγ1/Src-mediated paxillin hyperphosphorylation. 62
29242050 2018
7
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations. 62
29019756 2017
8
A new genus and species of scorpion from Burma [Myanmar] (Scorpiones: Scorpiopidae): Implications for the taxonomy of the family. 62
28668484 2017
9
Achondroplasia: Development, pathogenesis, and therapy. 62
27987249 2017
10
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. 62
28181399 2017
11
A reassessment of the PROPATRIA study and its implications for probiotic therapy. 62
26744983 2016
12
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. 62
25119967 2015
13
The paradox of FGFR3 signaling in skeletal dysplasia: why chondrocytes growth arrest while other cells over proliferate. 62
24295726 2014
14
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? 62
25505998 2014
15
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. 62
24352917 2014
16
Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia. 62
24324705 2013
17
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases. 62
21910223 2011
18
SADDAN syndrome. 62
22145492 2011
19
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. 62
20034074 2010
20
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 62
19622626 2009
21
Enumeration of the colony-forming units-fibroblast from mouse and human bone marrow in normal and pathological conditions. 62
19383412 2009
22
[Case of a Japanese female presenting severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) syndrome with a K650M mutation in the fibroblast growth factor receptor 3 gene]. 62
19039991 2008
23
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. 62
17525745 2007
24
Familial acanthosis nigricans due to K650T FGFR3 mutation. 62
17875876 2007
25
Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1. 62
17561467 2007
26
High frequency of FGFR3 mutations in adenoid seborrheic keratoses. 62
16778799 2006
27
K644E/M FGFR3 mutants activate Erk1/2 from the endoplasmic reticulum through FRS2 alpha and PLC gamma-independent pathways. 62
16476447 2006
28
The kinase activity of fibroblast growth factor receptor 3 with activation loop mutations affects receptor trafficking and signaling. 62
15292251 2004
29
Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders. 62
12461689 2002
30
Some chondrodysplasias with short limbs: molecular perspectives. 62
12357475 2002
31
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 62
11055896 2000
32
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. 62
10696568 2000

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

ClinVar genetic disease variations for Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR3 NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV Pathogenic
16358 rs121913116 GRCh37: 4:1801122-1801122
GRCh38: 4:1799395-1799395
2 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic
16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
3 FGFR3 NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic
16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
4 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic
16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
5 FGFR3 NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) SNV Pathogenic
16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
6 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic
16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
7 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic
65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
8 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain Significance
465350 rs764892330 GRCh37: 4:1808017-1808017
GRCh38: 4:1806290-1806290
9 FGFR3 NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu) SNV Uncertain Significance
1172560 GRCh37: 4:1806191-1806191
GRCh38: 4:1804464-1804464
10 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain Significance
546226 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
11 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain Significance
521225 rs139773438 GRCh37: 4:1808395-1808395
GRCh38: 4:1806668-1806668

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

73
# 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 GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 STAT1 IHH FGFR4 FGFR3 FGFR2 FGFR1
2
Show member pathways
13.76 STAT1 IHH FRS2 FGFR4 FGFR3 FGFR2
3 13.72 FGF16 FGF18 FGFR1 FGFR2 FGFR3 FGFR4
4
Show member pathways
13.63 STAT1 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
5
Show member pathways
13.5 FGF16 FGF18 FGFR1 FGFR2 FGFR3 FGFR4
6
Show member pathways
13.48 STAT1 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
7
Show member pathways
13.37 STAT1 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
8
Show member pathways
13.3 NPR2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
9
Show member pathways
13.3 FGF16 FGF18 FGFR1 FGFR2 FGFR3 FGFR4
10
Show member pathways
13.26 FGF16 FGF18 FGFR1 FGFR2 FGFR3 FGFR4
11
Show member pathways
13.25 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF16
12
Show member pathways
13.08 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
13
Show member pathways
13.05 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF16
14
Show member pathways
13.05 STAT1 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
15
Show member pathways
12.95 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF16
16
Show member pathways
12.89 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
17
Show member pathways
12.86 FGFR4 FGFR3 FGFR2 FGFR1
18
Show member pathways
12.77 FGFR4 FGFR3 FGFR2 FGFR1
19 12.75 STAT1 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
20
Show member pathways
12.73 FGF16 FGF18 FGFR1 FGFR2 FGFR3 FGFR4
21 12.71 STAT1 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
22
Show member pathways
12.68 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
23
Show member pathways
12.64 FGFR1 FGFR2 FGFR3 STAT1
24
Show member pathways
12.64 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
25
Show member pathways
12.62 STAT1 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
26
Show member pathways
12.55 FGF16 FGF18 FGFR1 FGFR2 FGFR3 FGFR4
27
Show member pathways
12.47 FGF16 FGF18 FGFR1 FGFR2 FGFR3 FGFR4
28
Show member pathways
12.41 FGFR4 FGFR3 FGFR2 FGFR1
29
Show member pathways
12.4 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF16
30
Show member pathways
12.4 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF16
31 12.4 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF16
32
Show member pathways
12.32 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
33 12.25 FGFR1 FGFR2 FGFR3 FGFR4
34
Show member pathways
12.22 FGFR4 FGFR3 FGFR2 FGFR1
35
Show member pathways
12.2 FGFR4 FGFR3 FGFR2 FGFR1
36 12.17 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
37
Show member pathways
12.14 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
38 12.12 FGFR1 FGFR2 FGFR3 FGFR4
39 12.11 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF16
40
Show member pathways
11.98 FGF18 FGFR1 FGFR3 IHH PTH1R STAT1
41
Show member pathways
11.91 FGFR4 FGFR3 FGFR2 FGFR1
42 11.9 FGFR3 FGFR2 FGFR1
43 11.9 FGFR1 FGFR2 FGFR3 FGFR4
44
Show member pathways
11.84 STAT1 FRS2 FGFR1
45 11.82 FGFR4 FGFR3 FGFR2 FGFR1
46 11.78 FGFR1 FGFR3 FGFR4
47
Show member pathways
11.76 STAT1 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
48 11.75 FGFR4 FGFR3 FGFR2 FGFR1 FGF18 FGF16
49 11.74 FGFR3 FGFR2 FGFR1
50 11.65 STAT1 FRS2 FGFR3 FGFR2

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

Cellular components related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.98 PTH1R NPR2 FRS2 FGFR4 FGFR3 FGFR2
2 plasma membrane GO:0005887 9.98 PTH1R NPR2 FRS2 FGFR4 FGFR3 FGFR2
3 receptor complex GO:0043235 9.32 PTH1R FGFR4 FGFR3 FGFR2 FGFR1

Biological processes related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.22 FGFR4 FGFR3 FGFR2 FGF18
2 cell-cell signaling GO:0007267 10.22 IHH FGFR3 FGFR2 FGF18 FGF16
3 protein phosphorylation GO:0006468 10.19 NPR2 FGFR4 FGFR3 FGFR2 FGFR1
4 protein autophosphorylation GO:0046777 10.19 FGFR1 FGFR2 FGFR3 FGFR4
5 positive regulation of MAPK cascade GO:0043410 10.17 FRS2 FGFR3 FGFR2 FGFR1
6 peptidyl-tyrosine phosphorylation GO:0018108 10.16 FGFR1 FGFR2 FGFR3 FGFR4
7 skeletal system development GO:0001501 10.13 FGFR1 FGFR3 IHH PTH1R TRAPPC2
8 positive regulation of kinase activity GO:0033674 10.1 FGFR4 FGFR3 FGFR2 FGFR1
9 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.1 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
10 positive regulation of cell population proliferation GO:0008284 10.06 FGF16 FGF18 FGFR1 FGFR2 FGFR3 FGFR4
11 bone mineralization GO:0030282 10.05 PTH1R FGFR3 FGFR2
12 positive regulation of mesenchymal cell proliferation GO:0002053 9.99 FGFR2 IHH STAT1
13 embryonic digestive tract morphogenesis GO:0048557 9.95 IHH FGFR2
14 chondrocyte proliferation GO:0035988 9.94 IHH FGFR3
15 cGMP biosynthetic process GO:0006182 9.94 NPR2 NPPC
16 receptor guanylyl cyclase signaling pathway GO:0007168 9.93 NPR2 NPPC
17 endochondral bone growth GO:0003416 9.93 FGFR2 FGFR3
18 chondrocyte differentiation GO:0002062 9.93 PTH1R IHH FGFR3 FGF18
19 positive regulation of cGMP-mediated signaling GO:0010753 9.91 NPR2 NPPC
20 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.88 FRS2 FGFR2
21 ossification GO:0001503 9.87 FGF18 IHH NPPC NPR2 PTH1R
22 negative regulation of oocyte maturation GO:1900194 9.85 NPR2 NPPC
23 positive regulation of phospholipase activity GO:0010518 9.85 FGFR3 FGFR2 FGFR1
24 negative regulation of meiotic cell cycle GO:0051447 9.84 NPR2 NPPC
25 multicellular organism development GO:0007275 9.78 FGFR4 FGFR3 FGFR2 FGFR1
26 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.73 FGFR1 FGF18 FGF16
27 reproductive process GO:0022414 9.62 NPR2 NPPC
28 regulation of sprouting angiogenesis GO:1903670 9.61 FGF18 FGF16
29 regulation of endothelial cell proliferation GO:0001936 9.6 FGF18 FGF16
30 fibroblast growth factor receptor signaling pathway GO:0008543 9.47 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF18
31 cellular response to endogenous stimulus GO:0071495 9.26 FGFR4 FGFR3 FGFR2 FGFR1

Molecular functions related to Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.87 FGFR4 FGFR3 FGFR2 FGFR1
2 protein kinase activity GO:0004672 9.85 NPR2 FGFR4 FGFR3 FGFR2 FGFR1
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.76 FGFR1 FGFR2 FGFR3 FGFR4
4 fibroblast growth factor receptor binding GO:0005104 9.73 FRS2 FGF18 FGF16
5 fibroblast growth factor binding GO:0017134 9.56 FGFR4 FGFR3 FGFR2 FGFR1
6 fibroblast growth factor receptor activity GO:0005007 9.23 FGFR4 FGFR3 FGFR2 FGFR1

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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