MRXSA
MCID: ARM006
MIFTS: 22

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 58 12 13 74
Mental Retardation Syndrome, X-Linked, Armfield Type 58 12
X-Linked Intellectual Disability, Armfield Type 12 60
Armfield Syndrome 12 60
Mrxsa 58 12
Mental Retardation, X-Linked, Syndromic, Armfield Type 58
Syndromic X-Linked Mental Retardation Armfield Type 12

Characteristics:

Orphanet epidemiological data:

60
x-linked intellectual disability, armfield type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
x-linked recessive

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


HPO:

33
armfield x-linked mental retardation syndrome:
Inheritance x-linked recessive inheritance


Classifications:



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

Description from OMIM: 300261

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:

60 33 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
5 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
6 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
7 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
8 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
9 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
10 small hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0200055
11 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
12 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
13 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
14 cataract 60 33 occasional (7.5%) Frequent (79-30%) HP:0000518
15 cleft palate 60 33 occasional (7.5%) Frequent (79-30%) HP:0000175
16 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
17 glaucoma 60 33 occasional (7.5%) Frequent (79-30%) HP:0000501
18 midface retrusion 60 33 occasional (7.5%) Frequent (79-30%) HP:0011800
19 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
20 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303
21 depressed nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005280
22 aminoaciduria 60 33 occasional (7.5%) Occasional (29-5%) HP:0003355
23 brachycephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000248
24 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
25 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
26 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
27 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
28 wide mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000154
29 downturned corners of mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0002714
30 nevus flammeus of the forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0007413
31 limited elbow extension 60 33 occasional (7.5%) Occasional (29-5%) HP:0001377
32 organic aciduria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001992
33 facial capillary hemangioma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000996
34 long ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0400004
35 galactosuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0012023
36 malar flattening 33 occasional (7.5%) HP:0000272
37 abnormal cardiac septum morphology 33 occasional (7.5%) HP:0001671
38 intellectual disability 33 HP:0001249
39 prominent forehead 33 HP:0011220
40 capillary hemangiomas 60 Occasional (29-5%)
41 abnormality of the cardiac septa 60 Occasional (29-5%)
42 abnormality of the elbow 60 Occasional (29-5%)
43 abnormal hand morphology 33 HP:0005922

Symptoms via clinical synopsis from OMIM:

58
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:

42
Eye

Publications for Armfield X-Linked Mental Retardation Syndrome

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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