GCS1
MCID: CMP072
MIFTS: 34

Camptodactyly Syndrome, Guadalajara, Type I (GCS1)

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

Aliases & Classifications for Camptodactyly Syndrome, Guadalajara, Type I

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

Name: Camptodactyly Syndrome, Guadalajara, Type I 56
Faciothoracoskeletal Syndrome 56 52
Ftss 56 52
Camptodactyly Syndrome, Guadalajara Type 1 58
Camptodactyly Syndrome, Guadalajara Type I 71
Camptodactyly Syndrome Guadalajara Type 1 52
Faciothoracoskeletal Syndrome; Ftss 56
Gcs 1 52
Gcs1 56

Characteristics:

Orphanet epidemiological data:

58
camptodactyly syndrome, guadalajara type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
camptodactyly syndrome, guadalajara, type i:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Camptodactyly Syndrome, Guadalajara, Type I

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1327 Definition Camptodactyly syndrome , Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Epidemiology To date only eight cases have been reported in the literature. Clinical description Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed. Genetic counseling The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

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 The drugs Dopamine and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and brain, and related phenotypes are pectus excavatum and open bite

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:

# Related Disease Score Top Affiliating Genes
1 polykaryocytosis inducer 10.3
2 pectus excavatum 10.2
3 blepharophimosis 10.2
4 malaria 10.2
5 non-alcoholic fatty liver disease 10.2
6 diphtheria 10.2
7 fatty liver disease 10.2
8 alcoholic hepatitis 9.8

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 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
2 open bite 58 31 hallmark (90%) Very frequent (99-80%) HP:0010807
3 dental malocclusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000689
4 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000768
5 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
6 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
7 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
8 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
9 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
10 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
11 abnormality of dental eruption 58 31 hallmark (90%) Very frequent (99-80%) HP:0006292
12 attached earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009907
13 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
14 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
15 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
16 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
17 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
18 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
19 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
20 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
21 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
22 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
23 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
24 hallux valgus 58 31 frequent (33%) Frequent (79-30%) HP:0001822
25 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
26 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
27 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
28 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
29 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
30 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
31 cubitus valgus 58 31 frequent (33%) Frequent (79-30%) HP:0002967
32 melanocytic nevus 58 31 frequent (33%) Frequent (79-30%) HP:0000995
33 short toe 58 31 frequent (33%) Frequent (79-30%) HP:0001831
34 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
35 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
36 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
37 spina bifida 58 31 frequent (33%) Frequent (79-30%) HP:0002414
38 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
39 microcornea 58 31 frequent (33%) Frequent (79-30%) HP:0000482
40 underdeveloped supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0009891
41 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
42 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
43 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
44 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
45 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
46 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
47 short distal phalanx of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009882
48 malar flattening 31 HP:0000272
49 hypertelorism 31 HP:0000316
50 low-set ears 31 HP:0000369

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
telecanthus
synophrys
microcornea
epicanthal folds
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum
twelfth rib hypoplasia
winged scapulae
downslanting ribs

Head And Neck Nose:
depressed nasal bridge
short nose
anteverted nostrils

Growth Height:
short stature

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

Skin Nails Hair Skin:
sacral dimple
pigmented nevi

Head And Neck Face:
flat face
midface hypoplasia

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

Head And Neck Neck:
long neck

Head And Neck Teeth:
malocclusion
abnormal dental eruption

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

Neurologic Central Nervous System:
seizures
mental retardation

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

Growth Other:
intrauterine growth retardation

Head And Neck Head:
microcephaly
brachycephaly

Skeletal Skull:
wormian bones
absent frontal and ethmoidal sinuses

Skeletal Limbs:
cubitus valgus
fibular hypoplasia

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

Skeletal Pelvis:
short femoral neck
hypoplastic iliac wings

Skeletal:
delayed bone age

Clinical features from OMIM:

211910

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


seizures

Drugs & Therapeutics for Camptodactyly Syndrome, Guadalajara, Type I

Drugs for Camptodactyly Syndrome, Guadalajara, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
2
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
3
Methamphetamine Approved, Illicit Phase 3 537-46-2 10836
4
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
5
leucovorin Approved Phase 3 58-05-9 6006 143
6
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
7
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
8 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
9
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
10
Adalimumab Approved Phase 3 331731-18-1 16219006
11
Infliximab Approved Phase 3 170277-31-3
12
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
13
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
14 Sympathomimetics Phase 3
15 Immunologic Factors Phase 3
16 Dopamine Uptake Inhibitors Phase 3
17 Methylprednisolone Acetate Phase 3
18 Dopamine Agents Phase 3
19 Antiemetics Phase 3
20 Neurotransmitter Agents Phase 3
21 Central Nervous System Stimulants Phase 3
22 Gastrointestinal Agents Phase 3
23 Folic Acid Antagonists Phase 3
24 Hormone Antagonists Phase 3
25 Dermatologic Agents Phase 3
26 Neuroprotective Agents Phase 3
27 Vitamin B Complex Phase 3
28 Vitamin B9 Phase 3
29 Folate Phase 3
30 Anti-Inflammatory Agents Phase 3
31 Autonomic Agents Phase 3
32 Protective Agents Phase 3
33 Antineoplastic Agents, Hormonal Phase 3
34 Antirheumatic Agents Phase 3
35 Immunosuppressive Agents Phase 3
36 glucocorticoids Phase 3
37 Antimetabolites Phase 3
38 Adrenergic Agents Phase 3
39 Hormones Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Controlled Clinical Trial of Low Dose Corticosteroids vs Anti TNF Treatment in Methotrexate Inadequate Responder Rheumatoid Arthritis Patient- a Pilot Study Unknown status NCT01724268 Phase 3 Pred + Meth;Anti TNF + Meth
2 Activité Physique et prévention de la Chute du Patient âGé hospItalisé en Court séjouR: Etude de faisabilité (AGIR) Completed NCT02393014
3 Functional Connectivity Measurement After Severe Traumatic Brain Injury Completed NCT02647996

Search 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

MalaCards organs/tissues related to Camptodactyly Syndrome, Guadalajara, Type I:

40
Bone, Liver, Brain, Lung, Ovary, Breast

Publications for Camptodactyly Syndrome, Guadalajara, Type I

Articles related to Camptodactyly Syndrome, Guadalajara, Type I:

(show top 50) (show all 91)
# Title Authors PMID Year
1
Guadalajara camptodactyly syndrome type I: report on a new case. 56
12002144 2002
2
Are the faciothoracoskeletal syndrome and the Guadalajara camptodactyly syndrome type I distinct entities? 56
8533835 1995
3
Newly recognized autosomal recessive faciothoracoskeletal syndrome. 56
8116673 1994
4
Guadalajara camptodactyly syndrome type I. A corroborative family. 56
7681735 1993
5
Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder. 56
7192193 1980
6
Alternative primers are required for pullulan biosynthesis in Aureobasidium melanogenum P16. 61
31923483 2020
7
The molecular foundations of zygosis. 61
31203379 2020
8
Dissection of GTPase-activating proteins reveals functional asymmetry in the COPI coat of budding yeast. 61
31331965 2019
9
HAP2/GCS1: Mounting evidence of our true biological EVE? 61
30125288 2018
10
An investigation into the possible regulation of the expression of genes by yapA in Talaromyces marneffei using the qRT- PCR method. 61
29228272 2018
11
p32 regulates ER stress and lipid homeostasis by down-regulating GCS1 expression. 61
29465311 2018
12
Balanced trafficking between the ER and the Golgi apparatus increases protein secretion in yeast. 61
29532188 2018
13
The effects of amantadine on traumatic brain injury outcome: a double-blind, randomized, controlled, clinical trial. 61
29790790 2018
14
Hap2, a novel gene in Babesia bigemina is expressed in tick stages, and specific antibodies block zygote formation. 61
29132437 2017
15
Loss of GCS1/HAP2 does not affect the ovule-targeting behavior of pollen tubes. 61
28791484 2017
16
Understanding of decreased sialylation of Fc-fusion protein in hyperosmotic recombinant Chinese hamster ovary cell culture: N-glycosylation gene expression and N-linked glycan antennary profile. 61
28266015 2017
17
Structure-Function Studies Link Class II Viral Fusogens with the Ancestral Gamete Fusion Protein HAP2. 61
28238660 2017
18
Arabidopsis HAP2/GCS1 is a gamete fusion protein homologous to somatic and viral fusogens. 61
28137780 2017
19
[Analysis of the Gamete-Fusion Genes in the Haploid-inducing ZMS-P Maize Line]. 61
30277363 2017
20
The Ancient Gamete Fusogen HAP2 Is a Eukaryotic Class II Fusion Protein. 61
28235200 2017
21
Worldwide population genetic analysis and natural selection in the Plasmodium vivax Generative Cell Specific 1 (PvGCS1) as a transmission-blocking vaccine candidate. 61
27180894 2016
22
Two HAP2-GCS1 homologs responsible for gamete interactions in the cellular slime mold with multiple mating types: Implication for common mechanisms of sexual reproduction shared by plants and protozoa and for male-female differentiation. 61
27189178 2016
23
Transmembrane transporter expression regulated by the glucosylceramide pathway in Cryptococcus neoformans. 61
26572681 2015
24
Gamete Dialogs in Green Lineages. 61
26145252 2015
25
Generation of a homozygous fertilization-defective gcs1 mutant by heat-inducible removal of a rescue gene. 61
25673573 2015
26
The cytoplasmic domain of the gamete membrane fusion protein HAP2 targets the protein to the fusion site in Chlamydomonas and regulates the fusion reaction. 61
25655701 2015
27
Response differences between Ectocarpus siliculosus populations to copper stress involve cellular exclusion and induction of the phytochelatin biosynthetic pathway. 61
25546007 2015
28
Evidence for participation of GCS1 in fertilization of the starlet sea anemone Nematostella vectensis: implication of a common mechanism of sperm-egg fusion in plants and animals. 61
25111819 2014
29
Sex-specific posttranslational regulation of the gamete fusogen GCS1 in the isogamous volvocine alga Gonium pectorale. 61
24632243 2014
30
Limited genetic diversity and purifying selection in Iranian Plasmodium falciparum Generative Cell Specific 1 (PfGCS1), a potential target for transmission-blocking vaccine. 61
24462906 2014
31
Phosphatidylserine flipping enhances membrane curvature and negative charge required for vesicular transport. 61
24019533 2013
32
Analysis of gamete membrane dynamics during double fertilization of Arabidopsis. 61
23076439 2013
33
Comparative genomics in Chlamydomonas and Plasmodium identifies an ancient nuclear envelope protein family essential for sexual reproduction in protists, fungi, plants, and vertebrates. 61
23699412 2013
34
Long-term follow-up of a large series of patients with type 1 gastric carcinoid tumors: data from a multicenter study. 61
23132699 2013
35
Egg cell-secreted EC1 triggers sperm cell activation during double fertilization. 61
23180860 2012
36
Gamete fusion is required to block multiple pollen tubes from entering an Arabidopsis ovule. 61
22608506 2012
37
Distribution of events of positive selection and population differentiation in a metabolic pathway: the case of asparagine N-glycosylation. 61
22731960 2012
38
Methylation of glycosylated sphingolipid modulates membrane lipid topography and pathogenicity of Cryptococcus neoformans. 61
22151739 2012
39
Dysregulated Arl1, a regulator of post-Golgi vesicle tethering, can inhibit endosomal transport and cell proliferation in yeast. 61
21562219 2011
40
The yeast Arf GTPase-activating protein Age1 is regulated by phospholipase D for post-Golgi vesicular transport. 61
21135091 2011
41
Surface localization of glucosylceramide during Cryptococcus neoformans infection allows targeting as a potential antifungal. 61
21283686 2011
42
The functional domain of GCS1-based gamete fusion resides in the amino terminus in plant and parasite species. 61
21209845 2010
43
Candida albicans AGE3, the ortholog of the S. cerevisiae ARF-GAP-encoding gene GCS1, is required for hyphal growth and drug resistance. 61
20700541 2010
44
Fertilization is a novel attacking site for the transmission blocking of malaria parasites. 61
19665985 2010
45
Role of host sphingosine kinase 1 in the lung response against Cryptococcosis. 61
20194596 2010
46
Membrane fusion triggers rapid degradation of two gamete-specific, fusion-essential proteins in a membrane block to polygamy in Chlamydomonas. 61
20335357 2010
47
HAP2(GCS1)-dependent gamete fusion requires a positively charged carboxy-terminal domain. 61
20333238 2010
48
Is HAP2-GCS1 an ancestral gamete fusogen? 61
20080406 2010
49
Studying the ArfGAP-dependent conformational changes in SNAREs. 61
20419422 2010
50
Green tea extract supplement inhibition of HMGB1 release in rats exposed to cigarette smoke. 61
20578506 2010

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....