MRXSA
MCID: ARM006
MIFTS: 21

Armfield X-Linked Mental Retardation Syndrome (MRXSA)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Armfield X-Linked Mental Retardation Syndrome

MalaCards integrated aliases for Armfield X-Linked Mental Retardation Syndrome:

Name: Armfield X-Linked Mental Retardation Syndrome 56 12 71
Mental Retardation Syndrome, X-Linked, Armfield Type 56 12 13
X-Linked Intellectual Disability, Armfield Type 12 58
Armfield Syndrome 12 58
Mrxsa 56 12
Mental Retardation, X-Linked, Syndromic, Armfield Type 56
Syndromic X-Linked Mental Retardation Armfield Type 12

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, armfield type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
one family with 6 probands described (as of september 2000)


HPO:

31
armfield x-linked mental retardation syndrome:
Inheritance x-linked recessive inheritance


Classifications:

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


Summaries for Armfield X-Linked Mental Retardation 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 X-Linked Mental Retardation Syndrome, is also known as mental retardation syndrome, x-linked, armfield type, and has symptoms including seizures An important gene associated with Armfield X-Linked Mental Retardation Syndrome is MRXSA (Armfield X-Linked Mental Retardation Syndrome). Affiliated tissues include eye, and related phenotypes are seizures and global developmental delay

More information from OMIM: 300261 PS309510

Related Diseases for Armfield X-Linked Mental Retardation Syndrome

Symptoms & Phenotypes for Armfield X-Linked Mental Retardation Syndrome

Human phenotypes related to Armfield X-Linked Mental Retardation Syndrome:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
6 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
7 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
8 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
9 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
10 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
11 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
12 cataract 58 31 occasional (7.5%) Frequent (79-30%) HP:0000518
13 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
14 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
15 midface retrusion 58 31 occasional (7.5%) Frequent (79-30%) HP:0011800
16 cleft palate 58 31 occasional (7.5%) Frequent (79-30%) HP:0000175
17 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
18 glaucoma 58 31 occasional (7.5%) Frequent (79-30%) HP:0000501
19 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
20 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
21 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
22 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
23 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
24 aminoaciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003355
25 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
26 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
27 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
28 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
29 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
30 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
31 nevus flammeus of the forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0007413
32 limited elbow extension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001377
33 organic aciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001992
34 facial capillary hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000996
35 long ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0400004
36 galactosuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012023
37 malar flattening 31 occasional (7.5%) HP:0000272
38 intellectual disability 31 HP:0001249
39 prominent forehead 31 HP:0011220
40 capillary hemangioma 58 Occasional (29-5%)
41 abnormality of the elbow 58 Occasional (29-5%)
42 abnormal hand morphology 31 HP:0005922

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
mental retardation, moderate to severe

Head And Neck Head:
prominent forehead
midface hypoplasia (in some patients)

Head And Neck Mouth:
cleft palate (in some patients)

Skeletal Feet:
small feet

Growth Height:
short stature

Head And Neck Eyes:
glaucoma (in some patients)
strabismus (in some patients)
cataracts (in some patients)

Skeletal Hands:
small hands

Clinical features from OMIM:

300261

UMLS symptoms related to Armfield X-Linked Mental Retardation Syndrome:


seizures

Drugs & Therapeutics for Armfield X-Linked Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Armfield X-Linked Mental Retardation Syndrome

Genetic Tests for Armfield X-Linked Mental Retardation Syndrome

Anatomical Context for Armfield X-Linked Mental Retardation Syndrome

MalaCards organs/tissues related to Armfield X-Linked Mental Retardation Syndrome:

40
Eye

Publications for Armfield X-Linked Mental Retardation Syndrome

Articles related to Armfield X-Linked Mental Retardation Syndrome:

# Title Authors PMID Year
1
X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28. 56
10398235 1999

Variations for Armfield X-Linked Mental Retardation Syndrome

Expression for Armfield X-Linked Mental Retardation Syndrome

Search GEO for disease gene expression data for Armfield X-Linked Mental Retardation Syndrome.

Pathways for Armfield X-Linked Mental Retardation Syndrome

GO Terms for Armfield X-Linked Mental Retardation Syndrome

Sources for Armfield X-Linked Mental Retardation Syndrome

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
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