Armfield X-Linked Mental Retardation Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0050764

OMIM ⁵⁶ 300261

OMIM Phenotypic Series ⁵⁶ PS309510

ICD10 ³² Q87.8

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷² C1846057

Orphanet ⁵⁸ ORPHA85276

MedGen ⁴¹ C1846057

UMLS ⁷¹ C1846057

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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 global developmental delay and short stature

More information from OMIM: 300261 PS309510

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Related Diseases for Armfield X-Linked Mental Retardation Syndrome

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Symptoms & Phenotypes for Armfield X-Linked Mental Retardation Syndrome

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

⁵⁸ ³¹ (showing 43, show less)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001263
2	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
3	intellectual disability, severe ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010864
4	micrognathia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000347
5	epicanthus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000286
6	downslanted palpebral fissures ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000494
7	intellectual disability, moderate ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002342
8	broad forehead ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000337
9	small hand ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0200055
10	short foot ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001773
11	seizure ³¹	hallmark (90%)		HP:0001250
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	cleft palate ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0000175
16	glaucoma ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0000501
17	short philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000322
18	midface retrusion ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0011800
19	depressed nasal bridge ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005280
20	macrocephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000256
21	mandibular prognathia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000303
22	aminoaciduria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003355
23	brachycephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000248
24	strabismus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000486
25	cryptorchidism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000028
26	wide mouth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000154
27	cerebral cortical atrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002120
28	downturned corners of mouth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002714
29	patent ductus arteriosus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001643
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	organic aciduria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001992
33	limited elbow extension ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001377
34	facial capillary hemangioma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000996
35	galactosuria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012023
36	long ear ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0400004
37	malar flattening ³¹	occasional (7.5%)		HP:0000272
38	intellectual disability ³¹			HP:0001249
39	seizures ⁵⁸		Very frequent (99-80%)
40	prominent forehead ³¹			HP:0011220
41	capillary hemangioma ⁵⁸		Occasional (29-5%)
42	abnormality of the elbow ⁵⁸		Occasional (29-5%)
43	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

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Drugs & Therapeutics for Armfield X-Linked Mental Retardation Syndrome

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

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Genetic Tests for Armfield X-Linked Mental Retardation Syndrome

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Anatomical Context for Armfield X-Linked Mental Retardation Syndrome

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

⁴⁰

Eye

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Publications for Armfield X-Linked Mental Retardation Syndrome

Articles related to Armfield X-Linked Mental Retardation Syndrome:

(showing 1, show less)

#	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	Armfield K...Stevenson RE	10398235	1999

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Genes for Armfield X-Linked Mental Retardation Syndrome

Genes related to Armfield X-Linked Mental Retardation Syndrome (1 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MRXSA	Armfield X-Linked Mental Retardation Syndrome	Genetic Locus	58.77	Genetic linkage ⁵⁶ GeneCards inferred via : Gene name (show sections)

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Variations for Armfield X-Linked Mental Retardation Syndrome

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Expression for Armfield X-Linked Mental Retardation Syndrome

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

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Pathways for Armfield X-Linked Mental Retardation Syndrome

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GO Terms for Armfield X-Linked Mental Retardation Syndrome

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Armfield X-Linked Mental Retardation Syndrome (MRXSA)

Aliases & Classifications for Armfield X-Linked Mental Retardation Syndrome

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Armfield X-Linked Mental Retardation Syndrome

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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics 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:

Publications for Armfield X-Linked Mental Retardation Syndrome

Articles related to Armfield X-Linked Mental Retardation Syndrome:

Genes for Armfield X-Linked Mental Retardation Syndrome

Genes related to Armfield X-Linked Mental Retardation Syndrome (1 elite genes):

Variations for Armfield X-Linked Mental Retardation Syndrome

Expression 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