MRXSA
MCID: INT383
MIFTS: 25

Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type (MRXSA)

Categories: Genetic diseases, Mental diseases, Neuronal diseases
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Aliases & Classifications for Intellectual Developmental Disorder, X-Linked, Syndromic,...

MalaCards integrated aliases for Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type:

Name: Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type 57 73
Armfield X-Linked Mental Retardation Syndrome 57 12 71
Mrxsa 57 73

Characteristics:


Inheritance:

X-linked recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable phenotype
onset in infancy
de novo mutation (in some patients)


Classifications:



Summaries for Intellectual Developmental Disorder, X-Linked, Syndromic,...

OMIM®: 57 MRXSA is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, usually accompanied by walking difficulties and poor or absent speech. Affected individuals have dysmorphic features, including large head circumference, downslanting palpebral fissures, bulbous nose, high-arched palate, short stature, and small hands and feet. Ocular anomalies, including strabismus, exotropia, myopia, and keratoconus, are common. Some patients may develop seizures. Additional variable features, such as mild congenital heart defects, joint stiffness, renal anomalies, and hemangiomas, may also be present (summary by Lee et al., 2020). (300261) (Updated 24-Oct-2022)

MalaCards based summary: Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type, also known as armfield x-linked mental retardation syndrome, is related to autism x-linked 2 and cerebellar atrophy, developmental delay, and seizures, and has symptoms including seizures An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type is MRXSA (Armfield X-Linked Mental Retardation Syndrome). Affiliated tissues include heart, kidney and brain, and related phenotypes are cataract and strabismus

UniProtKB/Swiss-Prot: 73 An X-linked recessive disorder characterized by global developmental delay with impaired intellectual development, walking difficulties and poor or absent speech. Affected individuals display a distinctive phenotype characterized by postnatal growth retardation, variable head circumference with a prominent forehead and dysmorphic facial features, ocular abnormalities, and seizures.

Related Diseases for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Diseases related to Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autism x-linked 2 10.4
2 cerebellar atrophy, developmental delay, and seizures 10.4
3 armfield syndrome 10.4

Symptoms & Phenotypes for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Human phenotypes related to Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type:

30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 30 Occasional (7.5%) HP:0000518
2 strabismus 30 Occasional (7.5%) HP:0000486
3 cleft palate 30 Occasional (7.5%) HP:0000175
4 glaucoma 30 Occasional (7.5%) HP:0000501
5 malar flattening 30 Occasional (7.5%) HP:0000272
6 midface retrusion 30 Occasional (7.5%) HP:0011800
7 intellectual disability 30 HP:0001249
8 short stature 30 HP:0004322
9 prominent forehead 30 HP:0011220
10 small hand 30 HP:0200055
11 short foot 30 HP:0001773
12 seizure 30 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Eyes:
nystagmus
strabismus
myopia
glaucoma
hypotelorism
more
Neurologic Central Nervous System:
global developmental delay
hypertonia
hypotonia
thin corpus callosum
enlarged ventricles
more
Skeletal:
joint stiffness

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
high arched palate
large lips

Head And Neck Ears:
low-set ears
large ears
overfolded helices

Skeletal Spine:
kyphoscoliosis

Skeletal Feet:
pes cavus
hammertoes
clubfoot
small feet
foot eversion

Cardiovascular Heart:
congenital heart defects (in some patients)

Head And Neck Head:
large head circumference (in some patients)

Skin Nails Hair Skin:
facial hemangioma (in some patients)

Abdomen Gastrointestinal:
dysphagia
feeding difficulties
imperforate anus (1 patient)

Head And Neck Nose:
depressed nasal bridge
bulbous nose
upturned nose

Abdomen:
umbilical hernia

Head And Neck Face:
prominent forehead
micrognathia
short philtrum
midface hypoplasia
bitemporal narrowing
more
Genitourinary External Genitalia Male:
cryptorchidism
micropenis
small scrotum
genitourinary anomalies (in some patients)

Genitourinary Kidneys:
horseshoe kidney
renal agenesis
duplicated kidney

Head And Neck Teeth:
dental crowding
hypodontia

Neurologic Behavioral Psychiatric Manifestations:
impulsivity
sleep disturbances
aggression

Skeletal Hands:
small hands

Skeletal Limbs:
limb abnormalities (in some patients)

Clinical features from OMIM®:

300261 (Updated 24-Oct-2022)

UMLS symptoms related to Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type:


seizures

Drugs & Therapeutics for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Search Clinical Trials, NIH Clinical Center for Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

Genetic Tests for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Anatomical Context for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Organs/tissues related to Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type:

MalaCards : Heart, Kidney, Brain

Publications for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Articles related to Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type:

# Title Authors PMID Year
1
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. 57
32703943 2020
2
X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28. 57
10398235 1999
3
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type. 62
33498634 2021

Variations for Intellectual Developmental Disorder, X-Linked, Syndromic,...

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type:

73
# Symbol AA change Variation ID SNP ID
1 FAM50A p.Glu254Gly VAR_084566
2 FAM50A p.Asp255Gly VAR_084567
3 FAM50A p.Asp255Asn VAR_084568
4 FAM50A p.Arg273Trp VAR_084569

Expression for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Search GEO for disease gene expression data for Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.

Pathways for Intellectual Developmental Disorder, X-Linked, Syndromic,...

GO Terms for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Sources for Intellectual Developmental Disorder, X-Linked, Syndromic,...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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