MRXSA
MCID: ARM006
MIFTS: 22

Armfield X-Linked Mental Retardation Syndrome (MRXSA)

Categories: Eye diseases, Fetal 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 57 12 13 73
Mental Retardation Syndrome, X-Linked, Armfield Type 57 12
X-Linked Intellectual Disability, Armfield Type 12 59
Armfield Syndrome 12 59
Mrxsa 57 12
Mental Retardation, X-Linked, Syndromic, Armfield Type 57
Syndromic X-Linked Mental Retardation Armfield Type 12

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability, armfield type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
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 macrocephaly and seizures

Description from OMIM: 300261

Related Diseases for Armfield X-Linked Mental Retardation Syndrome

Symptoms & Phenotypes for Armfield X-Linked Mental Retardation Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
4 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
5 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
6 cataract 59 32 occasional (7.5%) Frequent (79-30%) HP:0000518
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 aminoaciduria 59 32 occasional (7.5%) Occasional (29-5%) HP:0003355
11 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
12 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
13 cleft palate 59 32 occasional (7.5%) Frequent (79-30%) HP:0000175
14 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
15 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
16 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
17 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
18 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
19 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
20 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
21 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
22 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
23 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
24 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
25 small hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0200055
26 glaucoma 59 32 occasional (7.5%) Frequent (79-30%) HP:0000501
27 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
28 downturned corners of mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0002714
29 midface retrusion 59 32 occasional (7.5%) Frequent (79-30%) HP:0011800
30 nevus flammeus of the forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0007413
31 limited elbow extension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001377
32 organic aciduria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001992
33 facial capillary hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000996
34 long ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0400004
35 galactosuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0012023
36 malar flattening 32 occasional (7.5%) HP:0000272
37 intellectual disability 32 HP:0001249
38 prominent forehead 32 HP:0011220
39 capillary hemangiomas 59 Occasional (29-5%)
40 abnormality of the cardiac septa 59 Occasional (29-5%)
41 abnormality of the elbow 59 Occasional (29-5%)
42 abnormal hand morphology 32 HP:0005922
43 abnormal cardiac septum morphology 32 occasional (7.5%) HP:0001671

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:

41
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

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11 DGIdb
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19 FMA
28 GO
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30 HGMD
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32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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