MRXSMP
MCID: MNT146
MIFTS: 30

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

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

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 75 29 13 6 40
Martin-Probst Deafness-Mental Retardation Syndrome 57 75 73
Deafness-Intellectual Disability, Martin-Probst Type Syndrome 12 15
Martin-Probst Syndrome 12 59
Mrxsmp 57 75
Deafness-Intellectual Disability Syndrome, Martin-Probst Type 59
X-Linked Deafness-Intellectual Disability Syndrome Syndrome 59

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
mental retardation, x-linked, syndromic, martin-probst type:
Inheritance x-linked recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 choroideremia and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Mental Retardation, X-Linked, Syndromic, Martin-Probst Type is RAB40AL (RAB40A Like). Affiliated tissues include skin, kidney and eye, and related phenotypes are malar flattening and low-set ears

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.

Description from OMIM: 300519

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:

# Related Disease Score Top Affiliating Genes
1 choroideremia 10.5
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
3 sensorineural hearing loss 10.3

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
telecanthus
epicanthal folds
myopia (in 2 of 3 siblings)

Head And Neck Teeth:
dental malocclusion
abnormal teeth

Head And Neck Face:
micrognathia
malar hypoplasia

Head And Neck Nose:
broad nasal root

Neurologic Central Nervous System:
mental retardation, mild to severe

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)

Skin Nails Hair Skin:
telangiectasias

Hematology:
pancytopenia (in 2 of 3 siblings)

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

Abdomen External Features:
umbilical hernia

Chest Breasts:
hypoplastic nipples
widely spaced nipples

Head And Neck Mouth:
broad mouth
full lower lip

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)

Endocrine Features:
hypothyroidism (in 1 of 3 siblings)


Clinical features from OMIM:

300519

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

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 hypothyroidism 59 32 occasional (7.5%) Frequent (79-30%) HP:0000821
4 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
5 dental malocclusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000689
6 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
7 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
8 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
9 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
10 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
11 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
12 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
13 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
14 pancytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001876
15 thick lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000179
16 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
17 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
18 cryptorchidism 59 32 occasional (7.5%) Frequent (79-30%) HP:0000028
19 wide intermamillary distance 59 32 hallmark (90%) Very frequent (99-80%) HP:0006610
20 aplasia/hypoplasia of the nipples 59 32 hallmark (90%) Very frequent (99-80%) HP:0006709
21 abnormal dermatoglyphics 59 32 hallmark (90%) Very frequent (99-80%) HP:0007477
22 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
23 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
24 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
25 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
26 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
27 renal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000089
28 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
29 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
30 bifid scrotum 59 32 occasional (7.5%) Frequent (79-30%) HP:0000048
31 renal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000110
32 hypertelorism 32 HP:0000316
33 intellectual disability 32 HP:0001249
34 abnormality of the dentition 59 Very frequent (99-80%)
35 proteinuria 32 frequent (33%) HP:0000093
36 micropenis 32 occasional (7.5%) HP:0000054
37 hypoplastic nipples 32 HP:0002557
38 telangiectasia 32 HP:0001009

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

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

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

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

41
Skin, Kidney, Eye

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

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

# Title Authors Year
1
Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. ( 18487380 )
2008

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:

75
# Symbol AA change Variation ID SNP ID
1 RAB40AL p.Asp59Gly VAR_068916 rs145606134

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB40AL NM_001031834.1(RAB40AL): c.176A> G (p.Asp59Gly) single nucleotide variant Uncertain significance rs145606134 GRCh37 Chromosome X, 102192422: 102192422
2 RAB40AL NM_001031834.1(RAB40AL): c.176A> G (p.Asp59Gly) single nucleotide variant Uncertain significance rs145606134 GRCh38 Chromosome X, 102937494: 102937494
3 RAB40AL NM_001031834.1(RAB40AL): c.177C> A (p.Asp59Glu) single nucleotide variant Uncertain significance rs138133927 GRCh37 Chromosome X, 102192423: 102192423
4 RAB40AL NM_001031834.1(RAB40AL): c.177C> A (p.Asp59Glu) single nucleotide variant Uncertain significance rs138133927 GRCh38 Chromosome X, 102937495: 102937495
5 RAB40AL NM_001031834.1(RAB40AL): c.775A> G (p.Ile259Val) single nucleotide variant Benign rs61729484 GRCh38 Chromosome X, 102938093: 102938093
6 RAB40AL NM_001031834.1(RAB40AL): c.775A> G (p.Ile259Val) single nucleotide variant Benign rs61729484 GRCh37 Chromosome X, 102193021: 102193021

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.

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

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74 UMLS via Orphanet
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