MRXSMP
MCID: MNT146
MIFTS: 33

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 73 29 13 6 39
Martin-Probst Deafness-Mental Retardation Syndrome 57 73 71
Deafness-Intellectual Disability, Martin-Probst Type Syndrome 12 15
Martin-Probst Syndrome 12 58
Mrxsmp 57 73
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 05-Mar-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:

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


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

UniProtKB/Swiss-Prot : 73 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

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

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



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:

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 05-Mar-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 05-Mar-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

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:

40
Eye

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
15389700 2004
2
Characterisation and genetic mapping of a new X linked deafness syndrome. 57
11073537 2000
3
Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. 61
18487380 2008

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 GRCh37 Pos GRCh38 Pos
1 RAB40AL NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) SNV Uncertain significance 37017 rs145606134 X:102192422-102192422 X:102937494-102937494
2 RAB40AL NM_001031834.1(RAB40AL):c.177C>A (p.Asp59Glu) SNV Uncertain significance 518404 rs138133927 X:102192423-102192423 X:102937495-102937495
3 RAB40AL NM_001031834.1(RAB40AL):c.775A>G (p.Ile259Val) SNV Benign 518405 rs61729484 X:102193021-102193021 X:102938093-102938093

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

73
# Symbol AA change Variation ID SNP ID
1 RAB40AL p.Asp59Gly VAR_068916 rs145606134

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

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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