MRXSA
MCID: INT383
MIFTS: 27

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

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

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
Armfield X-Linked Mental Retardation Syndrome 57 29 6
Mental Retardation Syndrome, X-Linked, Armfield Type 57 13
X-Linked Intellectual Disability, Armfield Type 58
Armfield Syndrome 58
Mrxsa 57

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®:

57 (Updated 05-Mar-2021)
Miscellaneous:
variable phenotype
onset in infancy
de novo mutation (in some patients)

Inheritance:
x-linked recessive


HPO:

31
intellectual developmental disorder, x-linked, syndromic, armfield type:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:

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


External Ids:

OMIM® 57 300261
OMIM Phenotypic Series 57 PS309510
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1846057
Orphanet 58 ORPHA85276
MedGen 41 C1846057

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 05-Mar-2021)

MalaCards based summary : Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type, also known as armfield x-linked mental retardation syndrome, is related to agenesis of corpus callosum, cardiac, ocular, and genital syndrome and armfield syndrome, and has symptoms including seizures An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type is FAM50A (Family With Sequence Similarity 50 Member A). Affiliated tissues include eye, kidney and brain, and related phenotypes are cataract and strabismus

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 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.4
2 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:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 occasional (7.5%) Frequent (79-30%) HP:0000518
2 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
3 cleft palate 58 31 occasional (7.5%) Frequent (79-30%) HP:0000175
4 glaucoma 58 31 occasional (7.5%) Frequent (79-30%) HP:0000501
5 midface retrusion 58 31 occasional (7.5%) Frequent (79-30%) HP:0011800
6 malar flattening 31 occasional (7.5%) HP:0000272
7 short stature 58 31 Very frequent (99-80%) HP:0004322
8 small hand 58 31 Very frequent (99-80%) HP:0200055
9 short foot 58 31 Very frequent (99-80%) HP:0001773
10 macrocephaly 58 Occasional (29-5%)
11 intellectual disability 31 HP:0001249
12 seizures 58 Very frequent (99-80%)
13 global developmental delay 58 Very frequent (99-80%)
14 depressed nasal bridge 58 Occasional (29-5%)
15 inguinal hernia 58 Frequent (79-30%)
16 macrotia 58 Frequent (79-30%)
17 mandibular prognathia 58 Occasional (29-5%)
18 aminoaciduria 58 Occasional (29-5%)
19 brachycephaly 58 Occasional (29-5%)
20 intellectual disability, severe 58 Very frequent (99-80%)
21 prominent forehead 31 HP:0011220
22 cryptorchidism 58 Occasional (29-5%)
23 micrognathia 58 Very frequent (99-80%)
24 epicanthus 58 Very frequent (99-80%)
25 wide mouth 58 Occasional (29-5%)
26 cerebral cortical atrophy 58 Occasional (29-5%)
27 downslanted palpebral fissures 58 Very frequent (99-80%)
28 downturned corners of mouth 58 Occasional (29-5%)
29 patent ductus arteriosus 58 Occasional (29-5%)
30 abnormal cardiac septum morphology 58 Occasional (29-5%)
31 intellectual disability, moderate 58 Very frequent (99-80%)
32 short philtrum 58 Frequent (79-30%)
33 broad forehead 58 Very frequent (99-80%)
34 capillary hemangioma 58 Occasional (29-5%)
35 abnormality of the elbow 58 Occasional (29-5%)
36 abnormal hand morphology 31 HP:0005922
37 organic aciduria 58 Occasional (29-5%)
38 nevus flammeus of the forehead 58 Occasional (29-5%)
39 limited elbow extension 58 Occasional (29-5%)
40 facial capillary hemangioma 58 Occasional (29-5%)
41 galactosuria 58 Occasional (29-5%)
42 long ear 58 Occasional (29-5%)
43 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus
strabismus
myopia
glaucoma
hypotelorism
more
Neurologic Central Nervous System:
global developmental delay
hypertonia
hypotonia
enlarged ventricles
seizures (in some patients)
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 05-Mar-2021)

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,...

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

# Genetic test Affiliating Genes
1 Armfield X-Linked Mental Retardation Syndrome 29 FAM50A

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

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

40
Eye, Kidney, Brain, Heart

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 6
32703943 2020
2
X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28. 6 57
10398235 1999
3
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type. 61
33498634 2021

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

ClinVar genetic disease variations for Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAM50A NM_004699.4(FAM50A):c.616T>G (p.Trp206Gly) SNV Pathogenic 872939
2 FAM50A NM_004699.4(FAM50A):c.761A>G (p.Glu254Gly) SNV Pathogenic 872938
3 FAM50A NM_004699.4(FAM50A):c.817C>T (p.Arg273Trp) SNV Pathogenic 872940
4 FAM50A NM_004699.4(FAM50A):c.763G>A (p.Asp255Asn) SNV Pathogenic 872937
5 FAM50A NM_004699.4(FAM50A):c.764A>G (p.Asp255Gly) SNV Pathogenic 872936

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,...

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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