GCS1
MCID: CMP072
MIFTS: 32

Camptodactyly Syndrome, Guadalajara, Type I (GCS1)

Categories: Bone diseases, Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Camptodactyly Syndrome, Guadalajara, Type I

MalaCards integrated aliases for Camptodactyly Syndrome, Guadalajara, Type I:

Name: Camptodactyly Syndrome, Guadalajara, Type I 57
Faciothoracoskeletal Syndrome 57 19
Ftss 57 19
Camptodactyly Syndrome, Guadalajara Type 1 58
Camptodactyly Syndrome, Guadalajara Type I 71
Camptodactyly Syndrome Guadalajara Type 1 19
Gcs 1 19
Gcs1 57

Characteristics:


Inheritance:

Camptodactyly Syndrome, Guadalajara, Type I: Autosomal recessive 57
Camptodactyly Syndrome, Guadalajara Type 1: Autosomal recessive 58

Prevelance:

Camptodactyly Syndrome, Guadalajara Type 1: <1/1000000 (Worldwide) 58

Age Of Onset:

Camptodactyly Syndrome, Guadalajara Type 1: Neonatal 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Camptodactyly Syndrome, Guadalajara, Type I

GARD: 19 Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.

MalaCards based summary: Camptodactyly Syndrome, Guadalajara, Type I, also known as faciothoracoskeletal syndrome, is related to polykaryocytosis inducer and pectus excavatum, and has symptoms including seizures Affiliated tissues include bone, olfactory bulb and skeletal muscle, and related phenotypes are open bite and dental malocclusion

Orphanet: 58 Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.

More information from OMIM: 211910

Related Diseases for Camptodactyly Syndrome, Guadalajara, Type I

Diseases in the Camptodactyly Syndrome, Guadalajara, Type I family:

Camptodactyly Syndrome, Guadalajara, Type Ii Camptodactyly Syndrome, Guadalajara, Type Iii

Diseases related to Camptodactyly Syndrome, Guadalajara, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 polykaryocytosis inducer 10.2
2 pectus excavatum 10.0
3 blepharophimosis 10.0
4 malaria 9.9
5 zika fever 9.9
6 non-alcoholic fatty liver disease 9.9
7 diphtheria 9.9
8 dengue disease 9.9
9 male infertility 9.9
10 rubella 9.9
11 fatty liver disease 9.9
12 stomatitis 9.9

Graphical network of the top 20 diseases related to Camptodactyly Syndrome, Guadalajara, Type I:



Diseases related to Camptodactyly Syndrome, Guadalajara, Type I

Symptoms & Phenotypes for Camptodactyly Syndrome, Guadalajara, Type I

Human phenotypes related to Camptodactyly Syndrome, Guadalajara, Type I:

58 30 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 open bite 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010807
2 dental malocclusion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000689
3 pectus carinatum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000768
4 microtia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008551
5 abnormal form of the vertebral bodies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003312
6 flat face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012368
7 pectus excavatum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000767
8 telecanthus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000506
9 midface retrusion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011800
10 camptodactyly of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100490
11 abnormality of dental eruption 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006292
12 attached earlobe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009907
13 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
14 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
15 high palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000218
16 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
17 delayed skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002750
18 depressed nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005280
19 mandibular prognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000303
20 short nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0003196
21 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000252
22 anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
HP:0000463
23 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
24 brachycephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000248
25 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
26 cubitus valgus 58 30 Frequent (33%) Frequent (79-30%)
HP:0002967
27 epicanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000286
28 melanocytic nevus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000995
29 short toe 58 30 Frequent (33%) Frequent (79-30%)
HP:0001831
30 scapular winging 58 30 Frequent (33%) Frequent (79-30%)
HP:0003691
31 narrow face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000275
32 narrow mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000160
33 brachydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001156
34 downturned corners of mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0002714
35 spina bifida 58 30 Frequent (33%) Frequent (79-30%)
HP:0002414
36 hallux valgus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001822
37 narrow chest 58 30 Frequent (33%) Frequent (79-30%)
HP:0000774
38 microcornea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000482
39 underdeveloped supraorbital ridges 58 30 Frequent (33%) Frequent (79-30%)
HP:0009891
40 toe syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001770
41 low-set, posteriorly rotated ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000368
42 highly arched eyebrow 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002553
43 long face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000276
44 blepharophimosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000581
45 sacral dimple 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000960
46 short distal phalanx of finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009882
47 synophrys 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000664
48 hypertelorism 30 HP:0000316
49 low-set ears 30 HP:0000369
50 upslanted palpebral fissure 30 HP:0000582

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Nose:
depressed nasal bridge
short nose
anteverted nostrils

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum
twelfth rib hypoplasia
winged scapulae
downslanting ribs

Growth Height:
short stature

Growth Other:
intrauterine growth retardation

Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears
hypoplastic lobules

Skin Nails Hair Skin:
sacral dimple
pigmented nevi

Skeletal Spine:
spina bifida occulta
lumbar hyperlordosis
hypoplastic 5th lumbar vertebrae
horizontal sacrum
reduced anterior-posterior diameter of vertebral bodies

Head And Neck Mouth:
bifid uvula
high-arched palate
small, downturned mouth

Skeletal Pelvis:
short femoral neck
hypoplastic iliac wings

Head And Neck Teeth:
malocclusion
abnormal dental eruption

Head And Neck Eyes:
hypertelorism
telecanthus
microcornea
synophrys
epicanthal folds
more
Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Face:
flat face
midface hypoplasia

Skeletal Limbs:
cubitus valgus
fibular hypoplasia

Skeletal Hands:
brachydactyly
tubular metacarpal bones
short hands
camptodactyly (2nd-5th fingers)

Skeletal Feet:
hallux valgus
syndactyly
short feet
short metatarsals (4th-5th)

Skeletal Skull:
wormian bones
absent frontal and ethmoidal sinuses

Head And Neck Neck:
long neck

Neurologic Central Nervous System:
seizures
mental retardation

Skeletal:
delayed bone age

Clinical features from OMIM®:

211910 (Updated 08-Dec-2022)

UMLS symptoms related to Camptodactyly Syndrome, Guadalajara, Type I:


seizures

Drugs & Therapeutics for Camptodactyly Syndrome, Guadalajara, Type I

Search Clinical Trials, NIH Clinical Center for Camptodactyly Syndrome, Guadalajara, Type I

Genetic Tests for Camptodactyly Syndrome, Guadalajara, Type I

Anatomical Context for Camptodactyly Syndrome, Guadalajara, Type I

Organs/tissues related to Camptodactyly Syndrome, Guadalajara, Type I:

MalaCards : Bone, Olfactory Bulb, Skeletal Muscle, Ovary, Breast, Lung, Cortex

Publications for Camptodactyly Syndrome, Guadalajara, Type I

Articles related to Camptodactyly Syndrome, Guadalajara, Type I:

(show top 50) (show all 247)
# Title Authors PMID Year
1
Are the faciothoracoskeletal syndrome and the Guadalajara camptodactyly syndrome type I distinct entities? 62 57
8533835 1995
2
Newly recognized autosomal recessive faciothoracoskeletal syndrome. 62 57
8116673 1994
3
Guadalajara camptodactyly syndrome type I: report on a new case. 57
12002144 2002
4
Guadalajara camptodactyly syndrome type I. A corroborative family. 57
7681735 1993
5
Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder. 57
7192193 1980
6
DMP8 and 9 regulate HAP2/GCS1 trafficking for the timely acquisition of sperm fusion competence. 62
36322734 2022
7
Eukaryotic fertilization and gamete fusion at a glance. 62
36416181 2022
8
Tools for Understanding and Predicting the Affinity of Per- and Polyfluoroalkyl Substances for Anion-Exchange Sorbents. 62
36265138 2022
9
[Finite element analysis of optimal selection of cannulated threaded screw for the prevention of femoral neck shortening after internal fixation for femoral neck fracture]. 62
36415189 2022
10
Elucidation of the nematicidal mode of action of grammicin on Caenorhabditis elegans. 62
36464355 2022
11
Might non-transferrin-bound iron in blood plasma and sera be a non-proteinaceous high-molecular-mass FeIII aggregate? 62
36334631 2022
12
Utility of in silico prediction of target suppression for antibodies against soluble targets: static versus dynamic models. 62
36416938 2022
13
MEKK-3 Acts Cooperatively with NSY-1 in SKN-1-Dependent Manner against Oxidative Stress and Aging in Caenorhabditis elegans. 62
36290429 2022
14
Application of High-Resolution Mass Spectrometry to Evaluate UV-Sulfite-Induced Transformations of Per- and Polyfluoroalkyl Substances (PFASs) in Aqueous Film-Forming Foam (AFFF). 62
36162863 2022
15
Uncovering an ancestral green ménage à trois: Contributions of Chlamydomonas to the discovery of a broadly conserved triad of plant fertilization proteins. 62
36007296 2022
16
Optimization of the heterologous expression and purification of Plasmodium falciparum generative cell specific 1 in Escherichia coli. 62
35661702 2022
17
The N-glycosylation-related genes as potential targets for RNAi-mediated pest control of the Colorado potato beetle (Leptinotarsa decemlineata). 62
34821017 2022
18
Exposure to per- and polyfluoroalkyl substances as a risk factor for gestational diabetes mellitus through interference with glucose homeostasis. 62
35691348 2022
19
Flavonoids from Lycium barbarum Leaves Exhibit Anti-Aging Effects through the Redox-Modulation. 62
35956901 2022
20
Effects of Home-Based Nine-Square Step Exercises for Fall Prevention in Thai Community-Dwelling Older Adults during a COVID-19 Lockdown: A Pilot Randomized Controlled Study. 62
36078234 2022
21
Exogenous Adenosine Modulates Behaviors and Stress Response in Caenorhabditis elegans. 62
36018438 2022
22
A Retrospective Review of the Timing of Glasgow Coma Scale Documentation in a Trauma Database: Implications for Patient Care, Research, and Performance Metrics. 62
35405314 2022
23
Discovery of archaeal fusexins homologous to eukaryotic HAP2/GCS1 gamete fusion proteins. 62
35794124 2022
24
Discovery and Biochemical Characterization of N-methyltransferase Genes Involved in Purine Alkaloid Biosynthetic Pathway of Camellia gymnogyna Hung T.Chang (Theaceae) from Dayao Mountain. 62
35378107 2022
25
Apigenin glycosides from green pepper enhance longevity and stress resistance in Caenorhabditis elegans. 62
35366456 2022
26
The ability of eight frailty instruments to identify adverse outcomes across different settings: the FRAILTOOLS project. 62
35429109 2022
27
Enhanced Uptake of Arsenic Induces Increased Toxicity with Cadmium at Non-Toxic Concentrations on Caenorhabditis elegans. 62
35324758 2022
28
Capsaicinoid-Glucosides of Fresh Hot Pepper Promotes Stress Resistance and Longevity in Caenorhabditis elegans. 62
35119578 2022
29
Early Postoperative Rehabilitation Using the Hybrid Assistive Limb (HAL) Lumbar Type in Patients With Hip Fracture: A Pilot Study. 62
35371681 2022
30
Integrated mRNA and Small RNA Sequencing Reveals microRNAs Associated With Xylem Development in Dalbergia odorifera. 62
35547261 2022
31
Three-dimensional spatial distribution of legacy and novel poly/perfluoroalkyl substances in the Tibetan Plateau soil: Implications for transport and sources. 62
34991266 2022
32
Incidence, clinical spectrum, and immunotherapy of non-ischemic cerebral enhancing lesions after endovascular therapy. 62
35126670 2022
33
Design and development of a self-assembling protein nanoparticle displaying PfHAP2 antigenic determinants recognized by natural acquired antibodies. 62
36094917 2022
34
Three Models of Vaccination Strategies Against Cryptococcosis in Immunocompromised Hosts Using Heat-Killed Cryptococcus neoformans Δsgl1. 62
35615354 2022
35
N-γ-(L-glutamyl)-L-selenomethionine shows neuroprotective effects against Parkinson's disease associated with SKN-1/Nrf2 and TRXR-1 in Caenorhabditis elegans. 62
34537465 2021
36
Direct Detection of the Labile Nickel Pool in Escherichia coli: New Perspectives on Labile Metal Pools. 62
34723500 2021
37
On-chip monolithic Fourier transform spectrometers assisted by cGAN spectral prediction. 62
34469996 2021
38
Developmental changes and metabolic reprogramming during establishment of infection and progression of Trypanosoma brucei brucei through its insect host. 62
34543277 2021
39
Extracellular matrix protein N-glycosylation mediates immune self-tolerance in Drosophila melanogaster. 62
34544850 2021
40
Use of C. elegans as a 3R-compliant in vivo model for the chemoprevention of cisplatin-induced neurotoxicity. 62
33753139 2021
41
Sphingolipid Δ4-desaturation is an important metabolic step for glycosylceramide formation in Physcomitrium patens. 62
34111292 2021
42
Physical performance across the cognitive spectrum and between dementia subtypes in a population-based sample of older adults: The HUNT study. 62
33798998 2021
43
Low-molecular-mass labile metal pools in Escherichia coli: advances using chromatography and mass spectrometry. 62
33963934 2021
44
Sequential production of gametes during meiosis in trypanosomes. 62
33976359 2021
45
High sensitivity static Fourier transform spectrometer. 62
34154166 2021
46
Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation. 62
32677746 2021
47
Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. 62
33261925 2021
48
An Age-Friendly Health System. 62
33275785 2021
49
An Association between Lower Extremity Function and Cognitive Frailty: A Sample Population from the KFACS Study. 62
33498760 2021
50
Fusexins, HAP2/GCS1 and Evolution of Gamete Fusion. 62
35083224 2021

Variations for Camptodactyly Syndrome, Guadalajara, Type I

Expression for Camptodactyly Syndrome, Guadalajara, Type I

Search GEO for disease gene expression data for Camptodactyly Syndrome, Guadalajara, Type I.

Pathways for Camptodactyly Syndrome, Guadalajara, Type I

GO Terms for Camptodactyly Syndrome, Guadalajara, Type I

Sources for Camptodactyly Syndrome, Guadalajara, Type I

2 CDC
6 CNVD
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9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
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29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
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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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