ASSA
MCID: AMN014
MIFTS: 33

Aminopterin Syndrome Sine Aminopterin (ASSA)

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

Aliases & Classifications for Aminopterin Syndrome Sine Aminopterin

MalaCards integrated aliases for Aminopterin Syndrome Sine Aminopterin:

Name: Aminopterin Syndrome Sine Aminopterin 56 52 71
Pseudoaminopterin Syndrome 56 52 58
Assa 56 52 58
Aminopterin Syndrome-Like Sine Aminopterin 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
about a dozen patients have been reported (as of march 2012)


HPO:

31
aminopterin syndrome sine aminopterin:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Aminopterin Syndrome Sine Aminopterin

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221120 Definition Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly , syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature . Visit the Orphanet disease page for more resources.

MalaCards based summary : Aminopterin Syndrome Sine Aminopterin, also known as pseudoaminopterin syndrome, is related to cleft palate, isolated and hypertelorism. Affiliated tissues include bone, kidney and skin, and related phenotypes are intellectual disability and hypertelorism

OMIM : 56 The pseudoaminopterin syndrome (aminopterin syndrome sine aminopterin; ASSA) is a multiple congenital anomaly disorder characterized by ossification defects of the skull, dysmorphic facial features, delayed development, and variable limb defects. The clinical features resemble the embryopathy caused by maternal treatment with the folic acid antagonist aminopterin, which has been recognized since 1952 (Thiersch, 1952) when aminopterin was used as an abortifacient. The characteristic phenotype of the children who survived infancy after having been exposed to aminopterin or its methyl derivative, methotrexate, in early pregnancy included a very unusual facies, skull anomalies, and skeletal defects (summary by Fraser et al., 1987). (600325)

Related Diseases for Aminopterin Syndrome Sine Aminopterin

Diseases related to Aminopterin Syndrome Sine Aminopterin via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.3
2 hypertelorism 10.3
3 chromosome 2q35 duplication syndrome 10.3
4 crane-heise syndrome 10.3
5 cryptorchidism, unilateral or bilateral 10.3
6 microcephaly 10.3
7 kala-azar 1 10.1
8 pachyonychia congenita 3 10.1
9 withdrawal disorder 10.1
10 pertussis 10.1
11 contact dermatitis 10.1
12 hyperglycemia 10.1
13 peripheral nervous system disease 10.1
14 bronchitis 10.1
15 neuropathy 10.1
16 leishmaniasis 10.1
17 brachydactyly 10.1
18 tooth agenesis 10.1
19 ptosis 10.1
20 patent foramen ovale 10.1
21 craniosynostosis 10.1
22 alopecia 10.1
23 chromosomal triplication 10.1
24 horseshoe kidney 10.1

Graphical network of the top 20 diseases related to Aminopterin Syndrome Sine Aminopterin:



Diseases related to Aminopterin Syndrome Sine Aminopterin

Symptoms & Phenotypes for Aminopterin Syndrome Sine Aminopterin

Human phenotypes related to Aminopterin Syndrome Sine Aminopterin:

58 31 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
3 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
4 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
5 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
6 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
7 limited elbow movement 58 31 frequent (33%) Frequent (79-30%) HP:0002996
8 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
9 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
10 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
11 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
12 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
13 underdeveloped supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0009891
14 abnormal temporal bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0009911
15 frontal upsweep of hair 58 31 frequent (33%) Frequent (79-30%) HP:0002236
16 patchy reduction of bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0010657
17 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
18 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
19 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
20 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
21 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
22 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
23 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
24 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
25 short 4th metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010044
26 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
27 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
28 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
29 inverted nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0003186
30 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
31 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
32 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
33 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
34 sparse scalp hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002209
35 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
36 nasal speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001611
37 broad forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000337
38 short thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009778
39 synostosis of carpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0005048
40 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
41 asplenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001746
42 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
43 prominent sternum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000884
44 poor suck 58 31 occasional (7.5%) Occasional (29-5%) HP:0002033
45 absent earlobe 58 31 occasional (7.5%) Occasional (29-5%) HP:0000387
46 slender finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001238
47 fatigable weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003473
48 sacrococcygeal pilonidal abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0010767
49 hypoplasia of the antihelix 58 31 occasional (7.5%) Occasional (29-5%) HP:0009739
50 clinodactyly of the 5th toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0001864

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
hypoplastic supraorbital ridges
small palpebral fissures

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Teeth:
oligodontia
irregularly placed teeth

Skin Nails Hair Hair:
arched eyebrows
upswept frontal hairline

Growth Other:
poor growth

Skeletal Skull:
cranial bone defects

Head And Neck Head:
macrocephaly
microcephaly
brachycephaly
frontal bossing
bitemporal narrowing

Head And Neck Mouth:
cleft palate
high-arched palate

Head And Neck Face:
micrognathia

Skeletal Hands:
brachydactyly
clinodactyly
syndactyly
hypoplastic thumbs

Growth Weight:
low weight

Skeletal Limbs:
limited joint flexion

Neurologic Central Nervous System:
delayed development

Clinical features from OMIM:

600325

Drugs & Therapeutics for Aminopterin Syndrome Sine Aminopterin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Platelet Lysate on Corneal Epithelial Wound healing---the Collection of Human Serum From Volunteers Unknown status NCT02720146
2 Early Intervention Therapy for Children With Delayed Development: Enabling Access in India's Rural Communities Completed NCT03202966

Search NIH Clinical Center for Aminopterin Syndrome Sine Aminopterin

Genetic Tests for Aminopterin Syndrome Sine Aminopterin

Anatomical Context for Aminopterin Syndrome Sine Aminopterin

MalaCards organs/tissues related to Aminopterin Syndrome Sine Aminopterin:

40
Bone, Kidney, Skin, Breast, Heart, Smooth Muscle, Lung

Publications for Aminopterin Syndrome Sine Aminopterin

Articles related to Aminopterin Syndrome Sine Aminopterin:

(show top 50) (show all 145)
# Title Authors PMID Year
1
Pseudoaminopterin syndrome: clinical report with new characteristics. 56 61
19938091 2009
2
Fetus with features of Crane-Heise syndrome and aminopterin syndrome sine aminopterin (ASSAS). 56 61
7894742 1994
3
Aminopterin Syndrome Sine Aminopterin (ASSA) syndrome in two siblings: further delineation of the syndrome and review of the literature. 56 61
7888136 1994
4
An aminopterin-like syndrome without aminopterin (ASSAS). 61 56
3621652 1987
5
Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10. 56
2260592 1990
6
New syndrome in three affected siblings. 56
7267231 1981
7
Therapeutic abortions with a folic acid antagonist, 4-aminopteroylglutamic acid (4-amino P.G.A) administered by the oral route. 56
14933487 1952
8
Evaluation of the potential aphrodisiac activity of sesquiterpenoids from roots of Ferula huber-morathii PeĊŸmen in male rats. 61
32298751 2020
9
The volatile oils from the oleo-gum-resins of Ferula assa-foetida and Ferula gummosa: A comprehensive investigation of their insecticidal activity and eco-toxicological effects. 61
32247803 2020
10
Effects of innovation and insurance coverage on price elasticity of demand for prescription drugs: Recent evidence from pharmacoeconomics. 61
32432950 2020
11
Downregulation of S100 calcium binding protein A12 inhibits the growth of glioma cells. 61
32228516 2020
12
Adaptive Spoofing Suppression Algorithm for GNSS Based on Multiple Antennas Array. 61
32085647 2020
13
Methanogenic biodegradation of C9 to C12n-alkanes initiated by Smithella via fumarate addition mechanism. 61
32008120 2020
14
Western herbal medicines in the treatment of irritable bowel syndrome: A systematic review and meta-analysis. 61
31987249 2020
15
NMR-based metabolomic study of asafoetida. 61
31629871 2019
16
Chemical composition and biological effects of three different types (tear, paste, and mass) of bitter Ferula assa-foetida Linn. gum. 61
31707845 2019
17
Two-Dimensional Augmented State-Space Approach with Applications to Sparse Representation of Radar Signatures. 61
31653113 2019
18
Insights into Biodegradation Related Metabolism in an Abnormally Low Dissolved Inorganic Carbon (DIC) Petroleum-Contaminated Aquifer by Metagenomics Analysis. 61
31581560 2019
19
Gummosin, a sesquiterpene coumarin from Ferula assa-foetida is preferentially cytotoxic to human breast and prostate cancer cell lines. 61
31516858 2019
20
Success Rates at an Air Force Pilot Academy and Its Relation to Methylphenidate Use. 61
31426894 2019
21
Understanding Australian policies on public health using social and political science theories: reflections from an Academy of the Social Sciences in Australia Workshop. 61
29684128 2019
22
Incentives and disincentives to drug innovation: evidence from recent literature. 61
31038374 2019
23
Methanogenic Degradation of Long n-Alkanes Requires Fumarate-Dependent Activation. 61
31175186 2019
24
Earliest axial fossils from the genus Australopithecus. 61
31203847 2019
25
Biomechanical Analysis of All-Suture Suture Anchor Fixation Compared With Conventional Suture Anchors and Interference Screws for Biceps Tenodesis. 61
31072716 2019
26
Biomechanical Analysis of Medial-Row All-Suture Suture Anchor Fixation for Rotator Cuff Repair in a Pair-Matched Cadaveric Model. 61
31000387 2019
27
Advancing biomarkers for anaerobic o-xylene biodegradation via metagenomic analysis of a methanogenic consortium. 61
30968165 2019
28
Insights into the autotransport process of a trimeric autotransporter, Yersinia Adhesin A (YadA). 61
30600549 2019
29
Methanogenic degradation of branched alkanes in enrichment cultures of production water from a high-temperature petroleum reservoir. 61
30610291 2019
30
Prediction of lncRNAs and their interactions with nucleic acids: benchmarking bioinformatics tools. 61
29697742 2019
31
Antimicrobial Activity of the Essential Oil Obtained from the Seed and Oleo-Gum-Resin of Ferula Assa-Foetida against Oral Pathogens. 61
31777852 2019
32
Antidiabetic and antihyperlipidemic effects of ethanolic Ferula assa-foetida oleo-gum-resin extract in streptozotocin-induced diabetic wistar rats. 61
30471513 2019
33
Genetic differentiation between bitter and sweet asafetida plants using ISSR markers. 61
30556109 2019
34
Phytochemical Analysis and Evaluation of Antimicrobial Activity of Peumus boldus, Psidium guajava, Vernonia polysphaera, Persea Americana, Eucalyptus citriodora Leaf Extracts and Jatropha multifida Raw Sap. 61
30963968 2019
35
Rheological and functional properties of asafoetida gum. 61
30001603 2018
36
The effect of asafoetida essential oil on myocardial ischemic-reperfusion injury in isolated rat hearts. 61
30377592 2018
37
ASSA-PBN: A Toolbox for Probabilistic Boolean Networks. 61
29990128 2018
38
Psychoeducation against depression, anxiety, alexithymia and fibromyalgia: a pilot study in primary care for patients on sick leave. 61
29693478 2018
39
Leaf blade structure of Verbesina macrophylla (Cass.) F. S. Blake (Asteraceae): ontogeny, duct secretion mechanism and essential oil composition. 61
29394523 2018
40
ASSA: Fast identification of statistically significant interactions between long RNAs. 61
29375012 2018
41
Structural characterization and thermal behavior of a gum extracted from Ferula assa foetida L. 61
29253992 2018
42
Colonoscopy surveillance for high risk polyps does not always prevent colorectal cancer. 61
29491684 2018
43
Hemitransdomal versus Dome-Binding Suture. 61
29278861 2018
44
A selection of abstracts presented at the 45th annual conference of the Anatomical Society of Southern Africa (ASSA), 23-26 April 2017, Club Mykonos, Langebaan, Western Cape, South Africa. 61
29460447 2018
45
A Selection of Abstracts Presented at the 44th Annual Conference of the Anatomical Society of Southern Africa (ASSA), May 8-11, 2016, Bloem Spa Hotel and Conference Centre, Bloemfontein, Free State, South Africa. 61
29474741 2018
46
A selection of abstracts presented at the 43rd annual conference of the anatomical society of Southern Africa (ASSA), 9-13 May 2015, Khaya iBHUBESI Conference Venue, Parys, Free State, South Africa. 61
29377262 2018
47
Methanogenic Paraffin Biodegradation: Alkylsuccinate Synthase Gene Quantification and Dicarboxylic Acid Production. 61
29030441 2018
48
Biological activities of farnesiferol C: a review. 61
28948835 2018
49
Metagenomic Analysis of Subtidal Sediments from Polar and Subpolar Coastal Environments Highlights the Relevance of Anaerobic Hydrocarbon Degradation Processes. 61
28702706 2018
50
Vasodilatory effect of asafoetida essential oil on rat aorta rings: The role of nitric oxide, prostacyclin, and calcium channels. 61
29157833 2017

Variations for Aminopterin Syndrome Sine Aminopterin

Expression for Aminopterin Syndrome Sine Aminopterin

Search GEO for disease gene expression data for Aminopterin Syndrome Sine Aminopterin.

Pathways for Aminopterin Syndrome Sine Aminopterin

GO Terms for Aminopterin Syndrome Sine Aminopterin

Sources for Aminopterin Syndrome Sine Aminopterin

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57 OMIM via Orphanet
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63 QIAGEN
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72 UMLS via Orphanet
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