Mental Retardation, X-Linked, Syndromic, Martin-Probst Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MRXSMP MCID: MNT146 MIFTS: 32	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type (MRXSMP) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Name: Mental Retardation, X-Linked, Syndromic, Martin-Probst Type ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ³⁹

Martin-Probst Deafness-Mental Retardation Syndrome ⁵⁷ ⁷² ⁷⁰

Deafness-Intellectual Disability, Martin-Probst Type Syndrome ¹² ¹⁵

Martin-Probst Syndrome ¹² ⁵⁸

Mrxsmp ⁵⁷ ⁷²

Hearing Loss-Intellectual Disability Syndrome, Martin-Probst Type ⁵⁸

X-Linked Hearing Loss-Intellectual Disability Syndrome Syndrome ⁵⁸

Deafness-Intellectual Disability Syndrome, Martin-Probst Type ⁵⁸

X-Linked Deafness-Intellectual Disability Syndrome Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

deafness-intellectual disability syndrome, martin-probst type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
x-linked recessive

Miscellaneous:
three males in 1 family have been reported (last curated august 2012)

HPO:

³¹

mental retardation, x-linked, syndromic, martin-probst type:
Inheritance x-linked recessive inheritance

Classifications:

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

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060830

OMIM® ⁵⁷ 300519

OMIM Phenotypic Series ⁵⁷ PS309510

MeSH ⁴⁴ D038901

ICD10 ³² Q87.8

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷¹ C1845285

Orphanet ⁵⁸ ORPHA85321

MedGen ⁴¹ C1845285

UMLS ⁷⁰ C1845285

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Summaries for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

UniProtKB/Swiss-Prot : ⁷² Mental retardation, X-linked, syndromic, Martin-Probst type: A rare neurodevelopmental disorder characterized by mental retardation, sensorineural hearing loss, short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormal dermatoglyphics, renal insufficiency, and impaired haematopoiesis. Mental retardation is defined as significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Martin-Probst Type, also known as martin-probst deafness-mental retardation syndrome, is related to sensorineural hearing loss and retinitis pigmentosa. An important gene associated with Mental Retardation, X-Linked, Syndromic, Martin-Probst Type is RAB40AL (RAB40A Like). Affiliated tissues include eye, and related phenotypes are dental malocclusion and wide nasal bridge

Disease Ontology : ¹² A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has material basis in variation on the X chromosome.

More information from OMIM: 300519 PS309510

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Related Diseases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	sensorineural hearing loss	29.0	TIMM8A RAB40AL POU3F4 KCNE5
2	retinitis pigmentosa	10.3
3	choroideremia	10.3
4	branchiootic syndrome 1	10.3
5	neuroretinitis	10.3
6	spinal muscular atrophy	10.3
7	retinitis	10.3
8	muscular atrophy	10.3
9	charcot-marie-tooth hereditary neuropathy	10.3
10	x-linked distal hereditary motor neuropathy	10.3
11	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
12	amme complex	9.8	TIMM8A KCNE5
13	deafness, x-linked 6	9.7	TIMM8A POU3F4
14	deafness, x-linked 1	9.7	TIMM8A POU3F4
15	x-linked nonsyndromic deafness	9.6	TIMM8A POU3F4
16	mohr-tranebjaerg syndrome	9.5	TIMM8A POU3F4
17	deafness, x-linked 2	9.4	TIMM8A POU3F4
18	deafness, x-linked 4	9.3	TIMM8A SPIN3 RAB40AL POU3F4

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

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Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

⁵⁸ ³¹ (show all 40)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dental malocclusion ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000689
2	wide nasal bridge ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000431
3	umbilical hernia ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0001537
4	sensorineural hearing impairment ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000407
5	intellectual disability, severe ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010864
6	wide intermamillary distance ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0006610
7	aplasia/hypoplasia of the nipples ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006709
8	low-set ears ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000369
9	abnormal dermatoglyphics ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007477
10	wide mouth ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000154
11	intellectual disability, moderate ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002342
12	malar flattening ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000272
13	telecanthus ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000506
14	hypothyroidism ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000821
15	cataract ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000518
16	microcephaly ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000252
17	short stature ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0004322
18	renal insufficiency ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000083
19	thick lower lip vermilion ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000179
20	everted lower lip vermilion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000232
21	cryptorchidism ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000028
22	micrognathia ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000347
23	epicanthus ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000286
24	myopia ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000545
25	telangiectasia of the skin ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100585
26	bifid scrotum ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000048
27	renal hypoplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000089
28	blepharophimosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000581
29	hypoplasia of penis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008736
30	pancytopenia ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0001876
31	renal dysplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000110
32	hypertelorism ³¹	very rare (1%)		HP:0000316
33	proteinuria ³¹	very rare (1%)		HP:0000093
34	micropenis ³¹	very rare (1%)		HP:0000054
35	hypoplastic nipples ³¹	very rare (1%)		HP:0002557
36	telangiectasia ³¹	very rare (1%)		HP:0001009
37	narrow palpebral fissure ³¹	very rare (1%)		HP:0045025
38	chordee ³¹	very rare (1%)		HP:0000041
39	intellectual disability ³¹			HP:0001249
40	abnormality of the dentition ⁵⁸		Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Eyes:
hypertelorism
telecanthus
epicanthal folds
myopia (in 2 of 3 siblings)

Abdomen External Features:
umbilical hernia

Head And Neck Ears:
low-set ears
hearing loss, sensorineural, severe to profound

Head And Neck Nose:
broad nasal root

Neurologic Central Nervous System:
mental retardation, mild to severe

Growth Height:
short stature (in 2 of 3 siblings)

Genitourinary External Genitalia Male:
bifid scrotum (in 1 of 3 siblings)
small phallus (in 1 of 3 siblings)

Genitourinary Kidneys:
hypoplastic kidneys (in 2 of 3 siblings)
proteinuria (in 2 of 3 siblings)
renal insufficiency (in 2 of 3 siblings)

Hematology:
pancytopenia (in 2 of 3 siblings)

Head And Neck Teeth:
dental malocclusion
abnormal teeth

Head And Neck Face:
micrognathia
malar hypoplasia

Chest Breasts:
hypoplastic nipples
widely spaced nipples

Head And Neck Mouth:
broad mouth
full lower lip

Skin Nails Hair Skin:
telangiectases

Head And Neck Head:
microcephaly (in 2 of 3 siblings)

Genitourinary Internal Genitalia Male:
cryptorchidism (in 1 of 3 siblings)
absence of the vas deferens and epididymis (in 1 of 3 siblings)

Endocrine Features:
hypothyroidism (in 1 of 3 siblings)

Clinical features from OMIM®:

300519 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type according to GeneCards Suite gene sharing:

²⁶ (show all 16)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-117	9.55	BHLHE22
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	9.55	POU3F4
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.55	BHLHE22
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-137	9.55	TIMM8A
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-172	9.55	BHLHE22
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-173	9.55	BHLHE22
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-191	9.55	POU3F4 TIMM8A
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-209	9.55	BHLHE22
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-211	9.55	TIMM8A
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-213	9.55	BHLHE22
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-26	9.55	TIMM8A
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-30	9.55	POU3F4
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-32	9.55	TIMM8A
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-35	9.55	POU3F4
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-53	9.55	BHLHE22
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-70	9.55	BHLHE22

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Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

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Genetic Tests for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

#	Genetic test	Affiliating Genes
1	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type ²⁹

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Anatomical Context for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

⁴⁰

Eye

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Publications for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Articles related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

#	Title	Authors	PMID	Year
1	Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome. ⁵⁷	Probst FJ...Martin DM	15389700	2004
2	Characterisation and genetic mapping of a new X linked deafness syndrome. ⁵⁷	Martin DM...Petty EM	11073537	2000
3	Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. ⁶¹	Poloschek CM...Berger W	18487380	2008

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Genes for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RAB40AL	RAB40A Like	Protein Coding	326.97	Causative variation ⁷² DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	MRXSMP	Martin-Probst Deafness-Mental Retardation Syndrome	Genetic Locus	50	Genetic linkage ⁵⁷
3	LINC00630	Long Intergenic Non-Protein Coding RNA 630	RNA Gene	8.64	GeneCards inferred via : Variants (show sections)
4	ARMCX2	Armadillo Repeat Containing X-Linked 2	Protein Coding	7.12	DISEASES inferred ¹⁵
5	KCNE5	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5	Protein Coding	6.51	DISEASES inferred ¹⁵
6	SPIN3	Spindlin Family Member 3	Protein Coding	6.25	DISEASES inferred ¹⁵
7	DIAPH2	Diaphanous Related Formin 2	Protein Coding	6.2	DISEASES inferred ¹⁵
8	TIMM8A	Translocase Of Inner Mitochondrial Membrane 8A	Protein Coding	6.03	DISEASES inferred ¹⁵
9	POU3F4	POU Class 3 Homeobox 4	Protein Coding	6	DISEASES inferred ¹⁵
10	BHLHE22	Basic Helix-Loop-Helix Family Member E22	Protein Coding	5.79	DISEASES inferred ¹⁵

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Variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RAB40AL , LINC00630	NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly)	SNV	Uncertain significance	37017	rs145606134	GRCh37: X:102192422-102192422 GRCh38: X:102937494-102937494
2	RAB40AL , LINC00630	NM_001031834.1(RAB40AL):c.177C>A (p.Asp59Glu)	SNV	Uncertain significance	518404	rs138133927	GRCh37: X:102192423-102192423 GRCh38: X:102937495-102937495
3	RAB40AL , LINC00630	NM_001031834.1(RAB40AL):c.775A>G (p.Ile259Val)	SNV	Benign	518405	rs61729484	GRCh37: X:102193021-102193021 GRCh38: X:102938093-102938093

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	RAB40AL	p.Asp59Gly	VAR_068916	rs145606134

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Expression for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type.

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Pathways for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

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GO Terms for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

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Sources for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Mental Retardation, X-Linked, Syndromic, Martin-Probst Type (MRXSMP)

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Related Diseases for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Publications for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Articles related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Genes for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Genes related to Mental Retardation, X-Linked, Syndromic, Martin-Probst Type (2 elite genes):

Variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type:

Expression for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Pathways for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type

Sources for Mental Retardation, X-Linked, Syndromic, Martin-Probst Type