SADDAN
MCID: ACH043
MIFTS: 58

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

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin 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 58 26 76 74
Saddan 58 12 77 54 26 60 76 38 15 41
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans 12 54 26 30 6
Saddan Dysplasia 58 12 54 26 76
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome 54 60
Ssb Syndrome 54 26
Skeleton Skin Brain Syndrome 54
Skeleton-Skin-Brain Syndrome 26
Achondroplasia 45

Characteristics:

Orphanet epidemiological data:

60
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
clinical overlap with thanatophoric dysplasia i and severe achondroplasia


HPO:

33
achondroplasia, severe, with developmental delay and acanthosis nigricans:
Inheritance autosomal dominant inheritance


Classifications:



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

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85165Disease definitionSevere achondroplasia-developmental delay-acanthosis nigricanssyndrome 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).Visit the Orphanet disease page for more resources.

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 MAPK signaling pathway and Ras signaling pathway. Affiliated tissues include skin, brain and bone, and related phenotypes are brain atrophy and intellectual disability, severe

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.

Genetics Home Reference : 26 SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 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:

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 achondroplasia 34.8 FGFR1 FGFR2 FGFR3
2 hypochondroplasia 33.1 FGFR1 FGFR2 FGFR3
3 thanatophoric dysplasia, type i 30.4 FGF13 FGFR1 FGFR2 FGFR3 STAT1
4 synostosis 30.2 FGFR1 FGFR2 FGFR3
5 thanatophoric dysplasia, type ii 30.0 FGFR3 STAT1
6 crouzon syndrome 29.8 FGF13 FGFR1 FGFR2 FGFR3
7 pfeiffer syndrome 29.7 FGFR1 FGFR2 FGFR3
8 bone disease 29.5 FGFR2 FGFR3 PTHLH SRC
9 short-limb skeletal dysplasia with severe combined immunodeficiency 12.0
10 dwarfism 11.6
11 pseudoachondroplasia 11.4
12 hydrocephalus, congenital, 1 11.4
13 atelosteogenesis, type i 11.0
14 boomerang dysplasia 11.0
15 mesomelia 11.0
16 hemifacial hyperplasia 10.4 FGFR2 FGFR3
17 hydrocephalus 10.4
18 spinal stenosis 10.3
19 sleep apnea 10.3
20 acanthosis nigricans 10.3
21 nevus, epidermal 10.3
22 plagiocephaly 10.2 FGFR1 FGFR2 FGFR3
23 luteoma 10.1 FGFR2 FGFR3
24 osteoglophonic dysplasia 10.1 FGFR1 FGFR2 FGFR3
25 jackson-weiss syndrome 10.1 FGFR1 FGFR2 FGFR3
26 radioulnar synostosis 10.1 FGFR1 FGFR2 FGFR3
27 spondyloepiphyseal dysplasia congenita 10.1
28 down syndrome 10.1
29 apert syndrome 10.1 FGFR1 FGFR2 FGFR3
30 bone development disease 10.1 FGFR1 FGFR2 FGFR3
31 spondyloepiphyseal dysplasia with congenital joint dislocations 10.1
32 pulmonary hypertension 10.1
33 craniosynostosis 10.1
34 skeletal dysplasias 10.1
35 lacrimoauriculodentodigital syndrome 10.1 FGFR1 FGFR2 FGFR3
36 beare-stevenson cutis gyrata syndrome 10.0 FGFR2 FGFR3
37 saethre-chotzen syndrome 10.0 FGFR1 FGFR2 FGFR3
38 brittle bone disorder 10.0
39 body mass index quantitative trait locus 1 10.0
40 rickets 10.0
41 col1a1/2-related osteogenesis imperfecta 10.0
42 gastric signet ring cell adenocarcinoma 10.0 FGF13 HPSE SNAI1
43 osteochondroma 9.9 FGFR1 FGFR3 PTHLH
44 coloboma of macula 9.9
45 legg-calve-perthes disease 9.9
46 crouzon syndrome with acanthosis nigricans 9.9
47 osteoarthritis 9.9
48 achondrogenesis 9.9
49 lipomatosis 9.9
50 pelvic lipomatosis 9.9

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:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brain atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0012444
2 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
3 acanthosis nigricans 60 33 hallmark (90%) Very frequent (99-80%) HP:0000956
4 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
5 aplasia/hypoplasia of the mandible 60 33 hallmark (90%) Very frequent (99-80%) HP:0009118
6 metaphyseal chondrodysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005871
7 hypoplasia of the corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002079
8 enlarged cerebellum 60 33 hallmark (90%) Very frequent (99-80%) HP:0012081
9 generalized-onset seizure 33 hallmark (90%) HP:0002197
10 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
11 abnormality of the clavicle 60 33 frequent (33%) Frequent (79-30%) HP:0000889
12 femoral bowing 60 33 frequent (33%) Frequent (79-30%) HP:0002980
13 tibial bowing 60 33 frequent (33%) Frequent (79-30%) HP:0002982
14 fibular bowing 60 33 frequent (33%) Frequent (79-30%) HP:0010502
15 gastroesophageal reflux 33 occasional (7.5%) HP:0002020
16 pulmonary arterial hypertension 33 occasional (7.5%) HP:0002092
17 congestive heart failure 33 occasional (7.5%) HP:0001635
18 exotropia 33 occasional (7.5%) HP:0000577
19 high myopia 33 occasional (7.5%) HP:0011003
20 frontal bossing 33 HP:0002007
21 hydrocephalus 33 HP:0000238
22 intellectual disability 33 HP:0001249
23 seizures 33 HP:0001250
24 megalencephaly 33 HP:0001355
25 kyphosis 33 HP:0002808
26 sleep apnea 33 HP:0010535
27 hearing impairment 33 HP:0000365
28 global developmental delay 33 HP:0001263
29 depressed nasal bridge 33 HP:0005280
30 platyspondyly 33 HP:0000926
31 rhizomelia 33 HP:0008905
32 generalized seizures 60 Very frequent (99-80%)
33 otitis media 33 HP:0000388
34 severe short stature 33 HP:0003510
35 redundant skin 33 HP:0001582
36 midface retrusion 33 HP:0011800
37 wide anterior fontanel 33 HP:0000260
38 lumbar hyperlordosis 33 HP:0002938
39 mesomelia 33 HP:0003027
40 central apnea 33 HP:0002871

Symptoms via clinical synopsis from OMIM:

58
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

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:

27 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.91 MAPK3
2 Decreased substrate adherent cell growth GR00193-A-2 9.91 FGFR2 MAPK3 PTK2B
3 Decreased substrate adherent cell growth GR00193-A-3 9.91 FGFR2 FGFR3 MAPK3 PTK2B
4 Decreased substrate adherent cell growth GR00193-A-4 9.91 PTK2B
5 Decreased cell migration GR00055-A-1 9.88 FGFR3 JAK1 MAPK3 PLCG1 PTK2B PXN
6 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.72 FGFR1 FGFR2 FGFR3 JAK1 MAPK3
7 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 9.54 JAK1 PTK2 PTK2B
8 Decreased telomerase activity GR00156-A 9.33 FGFR3 MAPK3 SRC
9 Decreased viability in HMC1.1 cells GR00105-A-0 9.26 JAK1 PTK2 PTK2B SRC
10 Decreased viability with paclitaxel GR00179-A-1 8.92 MAPK3 PTK2 SRC
11 Decreased viability with paclitaxel GR00179-A-3 8.92 MAPK3

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

47 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.49 FGF13 FGFR1 FGFR2 FGFR3 FOXM1 FRS2
2 cardiovascular system MP:0005385 10.44 FGFR1 FGFR2 FOXM1 FRS2 HPSE JAK1
3 growth/size/body region MP:0005378 10.36 FGFR1 FGFR2 FGFR3 FRS2 JAK1 MAPK3
4 hematopoietic system MP:0005397 10.34 FGF1 FGFR1 FGFR2 FGFR3 HPSE JAK1
5 digestive/alimentary MP:0005381 10.32 FGFR1 FGFR2 FGFR3 FOXM1 MAPK3 PLCG1
6 immune system MP:0005387 10.32 FGFR1 FGFR2 FGFR3 FOXM1 HPSE JAK1
7 mortality/aging MP:0010768 10.31 FGF13 FGFR1 FGFR2 FGFR3 FOXM1 FRS2
8 behavior/neurological MP:0005386 10.3 CLSTN2 FGF13 FGFR1 FGFR2 FGFR3 JAK1
9 endocrine/exocrine gland MP:0005379 10.3 FGFR1 FGFR2 FOXM1 HPSE JAK1 MAPK3
10 craniofacial MP:0005382 10.24 FGFR1 FGFR2 FGFR3 FRS2 JAK1 MAPK3
11 integument MP:0010771 10.24 FGFR1 FGFR2 FGFR3 HPSE JAK1 MAPK3
12 embryo MP:0005380 10.22 FGFR1 FGFR2 FRS2 MAPK3 PLCG1 PTK2
13 limbs/digits/tail MP:0005371 10.13 FGFR1 FGFR2 FGFR3 FRS2 JAK1 PTHLH
14 nervous system MP:0003631 10.13 CLSTN2 FGF1 FGF13 FGFR1 FGFR2 FGFR3
15 hearing/vestibular/ear MP:0005377 10.08 FGFR1 FGFR2 FGFR3 FRS2 JAK1 MAPK3
16 liver/biliary system MP:0005370 10 FGFR2 FOXM1 JAK1 MAPK3 PTHLH PTK2
17 neoplasm MP:0002006 9.97 FGFR2 FGFR3 FOXM1 MAPK3 PTHLH PTK2
18 muscle MP:0005369 9.95 FGFR1 FGFR2 FOXM1 MAPK3 PTK2 PTK2B
19 normal MP:0002873 9.91 FGF1 FGFR1 FGFR2 FGFR3 JAK1 PTHLH
20 respiratory system MP:0005388 9.81 FGFR2 FGFR3 FOXM1 HPSE JAK1 MAPK3
21 skeleton MP:0005390 9.65 FGFR1 FGFR2 FGFR3 FRS2 JAK1 MAPK3
22 vision/eye MP:0005391 9.23 FGFR1 FGFR2 FGFR3 FRS2 MAPK3 PTHLH

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

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 with Developmental Delay and Acanthosis Nigricans 30 FGFR3

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

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

42
Skin, Brain, Bone, Heart, Cerebellum, Kidney, Spinal Cord

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

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

# Title Authors Year
1
Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLCĪ³1/Src-mediated paxillin hyperphosphorylation. ( 29242050 )
2018
2
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. ( 25119967 )
2015
3
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. ( 24352917 )
2014
4
SADDAN syndrome. ( 22145492 )
2011
5
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. ( 18076102 )
2008
6
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:

76
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Lys650Met VAR_004161 rs121913105

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

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
2 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
3 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
4 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh38 Chromosome 4, 1801837: 1801837
5 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
6 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
7 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh37 Chromosome 4, 1803568: 1803568
8 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh38 Chromosome 4, 1801841: 1801841
9 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
10 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
11 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
12 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh38 Chromosome 4, 1806163: 1806163
13 FGFR3 NM_000142.4(FGFR3): c.1993G> T (p.Ala665Ser) single nucleotide variant Uncertain significance rs764892330 GRCh37 Chromosome 4, 1808017: 1808017
14 FGFR3 NM_000142.4(FGFR3): c.1993G> T (p.Ala665Ser) single nucleotide variant Uncertain significance rs764892330 GRCh38 Chromosome 4, 1806290: 1806290
15 FGFR3 NM_000142.4(FGFR3): c.2153A> G (p.Asn718Ser) single nucleotide variant Uncertain significance rs139773438 GRCh37 Chromosome 4, 1808395: 1808395
16 FGFR3 NM_000142.4(FGFR3): c.2153A> G (p.Asn718Ser) single nucleotide variant Uncertain significance rs139773438 GRCh38 Chromosome 4, 1806668: 1806668
17 FGFR3 NM_000142.4(FGFR3): c.200G> A (p.Gly67Asp) single nucleotide variant Uncertain significance rs369232922 GRCh37 Chromosome 4, 1801071: 1801071
18 FGFR3 NM_000142.4(FGFR3): c.200G> A (p.Gly67Asp) single nucleotide variant Uncertain significance rs369232922 GRCh38 Chromosome 4, 1799344: 1799344

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:

38
# 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

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

(show top 50) (show all 145)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.3 FGF1 FGFR1 FGFR2 FGFR3 FRS2 JAK1
2
Show member pathways
14.16 FGF1 FGFR1 FGFR2 FGFR3 FRS2 HPSE
3
Show member pathways
14 FGF1 FGF13 FGFR1 FGFR2 FGFR3 JAK1
4
Show member pathways
13.95 FGF1 FGF13 FGFR1 FGFR2 FGFR3 JAK1
5
Show member pathways
13.83 FGF1 FGF13 FGFR1 FGFR2 FGFR3 JAK1
6
Show member pathways
13.82 FGF1 FGFR1 FGFR2 FGFR3 FRS2 MAPK3
7
Show member pathways
13.69 FGF1 FGF13 FGFR1 FGFR2 FGFR3 MAPK3
8
Show member pathways
13.68 FGF1 FGF13 FGFR1 FGFR2 FGFR3 JAK1
9
Show member pathways
13.65 FGF1 FGFR1 FGFR2 FGFR3 FRS2 JAK1
10
Show member pathways
13.56 FGF1 FGFR1 FGFR2 FGFR3 FRS2 MAPK3
11
Show member pathways
13.52 JAK1 MAPK3 PLCG1 PTK2 PTK2B PXN
12
Show member pathways
13.5 FGF1 FGF13 FGFR1 FGFR2 FGFR3 JAK1
13
Show member pathways
13.45 FGF1 FGF13 FGFR1 FGFR2 FGFR3 MAPK3
14
Show member pathways
13.44 FGF1 FGFR1 FGFR2 FGFR3 FRS2 JAK1
15
Show member pathways
13.41 FGF1 FGF13 FGFR1 FGFR2 FGFR3 MAPK3
16
Show member pathways
13.35 FGF1 FGF13 FGFR1 FGFR2 FGFR3 MAPK3
17
Show member pathways
13.13 FGF1 FGFR1 FGFR2 FGFR3 JAK1 MAPK3
18
Show member pathways
13.12 MAPK3 PLCG1 PTK2 PTK2B PXN SRC
19
Show member pathways
13.12 JAK1 MAPK3 PLCG1 PTK2 PTK2B PXN
20
Show member pathways
13.11 FGF1 FGF13 FGFR1 FGFR2 FGFR3 MAPK3
21
Show member pathways
13.1 FGFR1 FGFR2 FGFR3 PTK2 PTK2B SRC
22
Show member pathways
13.06 MAPK3 PLCG1 PTK2 PTK2B PXN SRC
23
Show member pathways
13.06 FGF1 FGF13 FGFR1 FGFR2 FGFR3 JAK1
24
Show member pathways
13.04 MAPK3 PLCG1 PTK2 PTK2B PXN SRC
25
Show member pathways
13.03 JAK1 MAPK3 PTK2 PTK2B SRC STAT1
26
Show member pathways
13.03 FGFR1 FGFR2 JAK1 MAPK3 PTK2 PXN
27
Show member pathways
13.02 MAPK3 PLCG1 PTK2 PTK2B PXN SRC
28
Show member pathways
13 FGFR1 FGFR2 FGFR3 JAK1 MAPK3 PLCG1
29
Show member pathways
12.99 MAPK3 PTK2 PTK2B PXN SRC
30
Show member pathways
12.99 FGF1 FGFR1 FGFR2 FGFR3 FRS2 PLCG1
31
Show member pathways
12.98 FGF1 FRS2 MAPK3 PTK2 PXN SRC
32 12.97 FGF1 FGFR1 FGFR2 FGFR3 JAK1 MAPK3
33
Show member pathways
12.89 FGF1 FGFR1 FGFR2 FGFR3 MAPK3 PLCG1
34 12.87 FGF1 FGFR1 FGFR2 FGFR3 MAPK3
35
Show member pathways
12.87 FGF1 FGFR1 FGFR2 MAPK3 PLCG1
36
Show member pathways
12.87 FGF1 FGFR1 FGFR2 FGFR3 FRS2 MAPK3
37
Show member pathways
12.86 FRS2 MAPK3 PLCG1 PTK2 PTK2B PXN
38
Show member pathways
12.82 MAPK3 PLCG1 PTK2 PTK2B PXN SRC
39
Show member pathways
12.82 FGF1 FGFR1 FGFR2 FGFR3 JAK1 MAPK3
40
Show member pathways
12.81 FGF1 FGF13 FGFR1 FGFR2 FGFR3
41
Show member pathways
12.78 MAPK3 PLCG1 PTK2 PTK2B SRC
42
Show member pathways
12.77 PLCG1 PTK2 PTK2B PXN SRC
43
Show member pathways
12.76 JAK1 MAPK3 PLCG1 PTK2 SRC STAT1
44
Show member pathways
12.76 JAK1 MAPK3 PTK2 PTK2B PXN SRC
45
Show member pathways
12.75 MAPK3 PTK2 PXN SNAI1 SRC
46
Show member pathways
12.71 MAPK3 PLCG1 PTK2 PXN SRC
47 12.71 FGF1 FGF13 FGFR1 FGFR2 FGFR3 MAPK3
48
Show member pathways
12.7 MAPK3 PTK2 PTK2B PXN SRC
49
Show member pathways
12.7 JAK1 MAPK3 PLCG1 PTK2 PXN SRC
50
Show member pathways
12.65 JAK1 MAPK3 PLCG1 PTK2 PXN SRC

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 cytoplasm GO:0005737 9.86 FGF1 FGF13 FGFR1 FGFR2 FGFR3 FRS2
2 lamellipodium GO:0030027 9.67 PLCG1 PTK2 PTK2B PXN
3 focal adhesion GO:0005925 9.63 FGFR3 JAK1 MAPK3 PTK2 PTK2B PXN
4 cell cortex GO:0005938 9.02 FGF1 FGFR2 PTK2 PTK2B PXN
5 nucleus GO:0005634 10.2 FGF1 FGF13 FGFR1 FGFR2 FGFR3 FOXM1
6 plasma membrane GO:0005886 10.18 CLSTN2 FGF13 FGFR1 FGFR2 FGFR3 FRS2
7 cytosol GO:0005829 10.1 FGF1 FGF13 FGFR1 FRS2 JAK1 MAPK3

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

(show top 50) (show all 64)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.99 FGF13 FGFR2 FGFR3 PTHLH
2 cell migration GO:0016477 9.97 FGFR1 PLCG1 SNAI1 SRC
3 angiogenesis GO:0001525 9.97 FGF1 FGFR1 FGFR2 PTK2 PTK2B
4 axon guidance GO:0007411 9.97 FRS2 MAPK3 PLCG1 PTK2 SRC
5 cell differentiation GO:0030154 9.93 FGF1 PTK2 PTK2B SRC
6 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.92 MAPK3 PLCG1 PTK2 SRC
7 neuron migration GO:0001764 9.91 FGF13 FGFR1 PTK2
8 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 FGFR2 FGFR3 MAPK3 PTK2B SRC
9 transforming growth factor beta receptor signaling pathway GO:0007179 9.9 PTK2 PXN SRC
10 lung development GO:0030324 9.9 FGF1 FGFR1 FGFR2
11 integrin-mediated signaling pathway GO:0007229 9.89 PTK2 PTK2B SRC
12 protein autophosphorylation GO:0046777 9.88 FGFR1 FGFR2 FGFR3 PTK2 PTK2B SRC
13 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.86 FGFR1 PTK2 SRC
14 response to mechanical stimulus GO:0009612 9.86 PTK2B SRC STAT1
15 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.86 PTK2 PTK2B PXN SRC
16 positive regulation of MAP kinase activity GO:0043406 9.84 FGF1 FGFR1 SRC
17 cellular response to transforming growth factor beta stimulus GO:0071560 9.84 FGFR2 PTK2 SRC
18 epidermal growth factor receptor signaling pathway GO:0007173 9.84 PLCG1 PTK2 PTK2B SRC
19 response to hydrogen peroxide GO:0042542 9.83 PTK2B SRC STAT1
20 bone mineralization GO:0030282 9.8 FGFR2 FGFR3 PTHLH
21 negative regulation of apoptotic process GO:0043066 9.8 PTK2 PTK2B SRC
22 cellular response to reactive oxygen species GO:0034614 9.79 MAPK3 PXN SRC
23 endothelial cell migration GO:0043542 9.77 PTK2 PXN STAT1
24 positive regulation of mesenchymal cell proliferation GO:0002053 9.76 FGFR1 FGFR2 STAT1
25 peptidyl-tyrosine autophosphorylation GO:0038083 9.76 MAPK3 PTK2 PTK2B SRC
26 positive regulation of ubiquitin-dependent protein catabolic process GO:2000060 9.73 PTK2 PTK2B
27 stress fiber assembly GO:0043149 9.73 PTK2B SRC
28 interleukin-6-mediated signaling pathway GO:0070102 9.73 JAK1 STAT1
29 positive regulation of DNA biosynthetic process GO:2000573 9.73 PTK2B SRC
30 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.73 FGFR3 PTK2 PTK2B SRC
31 fibroblast growth factor receptor signaling pathway GO:0008543 9.73 FGF1 FGFR1 FGFR2 FGFR3 FRS2 MAPK3
32 regulation of osteoblast differentiation GO:0045667 9.72 FGFR2 PTK2
33 positive regulation of phospholipase C activity GO:0010863 9.72 FGFR1 PLCG1
34 organ induction GO:0001759 9.72 FGF1 FGFR1 FRS2
35 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.71 JAK1 STAT1
36 branching involved in salivary gland morphogenesis GO:0060445 9.71 FGFR1 FGFR2
37 cellular response to fluid shear stress GO:0071498 9.71 PTK2B SRC
38 growth hormone receptor signaling pathway GO:0060396 9.71 PTK2 PXN
39 interleukin-27-mediated signaling pathway GO:0070106 9.71 JAK1 STAT1
40 interleukin-2-mediated signaling pathway GO:0038110 9.7 JAK1 PTK2B
41 interleukin-35-mediated signaling pathway GO:0070757 9.7 JAK1 STAT1
42 mesenchymal cell differentiation GO:0048762 9.7 FGFR1 FGFR2
43 positive regulation of phospholipase activity GO:0010518 9.7 FGFR1 FGFR2 FGFR3
44 peptidyl-tyrosine phosphorylation GO:0018108 9.7 FGFR1 FGFR2 FGFR3 JAK1 PTK2 PTK2B
45 interleukin-9-mediated signaling pathway GO:0038113 9.69 JAK1 STAT1
46 outer ear morphogenesis GO:0042473 9.69 FGFR1 MAPK3
47 interleukin-21-mediated signaling pathway GO:0038114 9.68 JAK1 STAT1
48 lung-associated mesenchyme development GO:0060484 9.68 FGFR1 FGFR2
49 positive regulation of intracellular signal transduction GO:1902533 9.67 FGF1 SRC
50 endochondral bone growth GO:0003416 9.66 FGFR2 FGFR3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.92 FOXM1 PLCG1 PTK2 PXN SRC
2 kinase activity GO:0016301 9.92 FGFR1 FGFR2 FGFR3 JAK1 MAPK3 PTK2
3 ubiquitin protein ligase binding GO:0031625 9.86 JAK1 PTK2B PXN SRC
4 nucleotide binding GO:0000166 9.8 FGFR1 FGFR2 FGFR3 JAK1 MAPK3 PTK2
5 protein phosphatase binding GO:0019903 9.72 JAK1 PTK2 PXN
6 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.67 JAK1 PTK2 PTK2B SRC
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.65 FGFR1 FGFR2 FGFR3
8 fibroblast growth factor binding GO:0017134 9.58 FGFR1 FGFR2 FGFR3
9 protein kinase activity GO:0004672 9.56 FGFR1 FGFR2 FGFR3 JAK1 MAPK3 PTK2
10 CCR5 chemokine receptor binding GO:0031730 9.51 JAK1 STAT1
11 neurotrophin TRKA receptor binding GO:0005168 9.49 FRS2 PLCG1
12 fibroblast growth factor-activated receptor activity GO:0005007 9.33 FGFR1 FGFR2 FGFR3
13 protein tyrosine kinase activity GO:0004713 9.17 FGFR1 FGFR2 FGFR3 JAK1 PTK2 PTK2B
14 protein binding GO:0005515 10.36 FGF1 FGF13 FGFR1 FGFR2 FGFR3 FOXM1
15 transferase activity GO:0016740 10.14 FGFR1 FGFR2 FGFR3 JAK1 MAPK3 PTK2
16 ATP binding GO:0005524 10.06 FGFR1 FGFR2 FGFR3 JAK1 MAPK3 PTK2

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

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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