MRXSA
MCID: ARM005
MIFTS: 16

Armfield Syndrome (MRXSA)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Armfield Syndrome

MalaCards integrated aliases for Armfield Syndrome:

Name: Armfield Syndrome 12 15
Mental Retardation Syndrome, X-Linked, Armfield Type 12
Syndromic X-Linked Mental Retardation Armfield Type 12
X-Linked Intellectual Disability, Armfield Type 12
Armfield X-Linked Mental Retardation Syndrome 12
Mrxsa 12

Classifications:



Summaries for Armfield Syndrome

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has material basis in variation in the chromosomal region Xq28.

MalaCards based summary : Armfield Syndrome, also known as mental retardation syndrome, x-linked, armfield type, is related to intellectual developmental disorder, x-linked, syndromic, armfield type. An important gene associated with Armfield Syndrome is FAM50A (Family With Sequence Similarity 50 Member A). Related phenotypes are global developmental delay and short stature

Related Diseases for Armfield Syndrome

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

# Related Disease Score Top Affiliating Genes
1 intellectual developmental disorder, x-linked, syndromic, armfield type 11.1

Symptoms & Phenotypes for Armfield Syndrome

Human phenotypes related to Armfield Syndrome:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 hallmark (90%) HP:0001263
2 short stature 31 hallmark (90%) HP:0004322
3 intellectual disability, severe 31 hallmark (90%) HP:0010864
4 micrognathia 31 hallmark (90%) HP:0000347
5 epicanthus 31 hallmark (90%) HP:0000286
6 downslanted palpebral fissures 31 hallmark (90%) HP:0000494
7 intellectual disability, moderate 31 hallmark (90%) HP:0002342
8 broad forehead 31 hallmark (90%) HP:0000337
9 small hand 31 hallmark (90%) HP:0200055
10 short foot 31 hallmark (90%) HP:0001773
11 seizure 31 hallmark (90%) HP:0001250
12 cataract 31 frequent (33%) HP:0000518
13 inguinal hernia 31 frequent (33%) HP:0000023
14 macrotia 31 frequent (33%) HP:0000400
15 cleft palate 31 frequent (33%) HP:0000175
16 glaucoma 31 frequent (33%) HP:0000501
17 short philtrum 31 frequent (33%) HP:0000322
18 midface retrusion 31 frequent (33%) HP:0011800
19 macrocephaly 31 occasional (7.5%) HP:0000256
20 depressed nasal bridge 31 occasional (7.5%) HP:0005280
21 mandibular prognathia 31 occasional (7.5%) HP:0000303
22 aminoaciduria 31 occasional (7.5%) HP:0003355
23 brachycephaly 31 occasional (7.5%) HP:0000248
24 strabismus 31 occasional (7.5%) HP:0000486
25 cryptorchidism 31 occasional (7.5%) HP:0000028
26 wide mouth 31 occasional (7.5%) HP:0000154
27 cerebral cortical atrophy 31 occasional (7.5%) HP:0002120
28 downturned corners of mouth 31 occasional (7.5%) HP:0002714
29 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
30 abnormal cardiac septum morphology 31 occasional (7.5%) HP:0001671
31 organic aciduria 31 occasional (7.5%) HP:0001992
32 nevus flammeus of the forehead 31 occasional (7.5%) HP:0007413
33 limited elbow extension 31 occasional (7.5%) HP:0001377
34 facial capillary hemangioma 31 occasional (7.5%) HP:0000996
35 galactosuria 31 occasional (7.5%) HP:0012023
36 long ear 31 occasional (7.5%) HP:0400004

Drugs & Therapeutics for Armfield Syndrome

Search Clinical Trials , NIH Clinical Center for Armfield Syndrome

Genetic Tests for Armfield Syndrome

Anatomical Context for Armfield Syndrome

Publications for Armfield Syndrome

Articles related to Armfield Syndrome:

# Title Authors PMID Year
1
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type. 61
33498634 2021

Variations for Armfield Syndrome

Expression for Armfield Syndrome

Search GEO for disease gene expression data for Armfield Syndrome.

Pathways for Armfield Syndrome

GO Terms for Armfield Syndrome

Sources for Armfield Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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