NEDMIGS
MCID: NRD103
MIFTS: 28

Neurodevelopmental Disorder with Microcephaly and Gray Sclerae (NEDMIGS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae:

Name: Neurodevelopmental Disorder with Microcephaly and Gray Sclerae 57
Mental Retardation, Autosomal Recessive 55 73 29 6
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome 58
Mental Retardation, Autosomal Recessive 55, Formerly; Mrt55, Formerly 57
Mental Retardation, Autosomal Recessive 55, Formerly 57
Mrt55, Formerly 57
Nedmigs 57
Mrt55 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
neurodevelopmental disorder with microcephaly and gray sclerae:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

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


Summaries for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

OMIM® : 57 Neurodevelopmental disorder with microcephaly and gray sclerae (NEDMIGS) is a severe autosomal recessive disorder characterized by impaired global development with hypotonia often precluding independent ambulation, profoundly impaired intellectual development with poor or absent language, mild microcephaly, and abnormal visual fixation. Patients also have gray sclerae and may have coarse facial features. Most affected individuals have seizures; some may have brain imaging abnormalities (summary by Shaheen et al., 2016 and Froukh et al., 2020). (617051) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly and Gray Sclerae, also known as mental retardation, autosomal recessive 55, is related to dandy-walker syndrome and anencephaly. An important gene associated with Neurodevelopmental Disorder with Microcephaly and Gray Sclerae is PUS3 (Pseudouridine Synthase 3). Affiliated tissues include kidney, and related phenotypes are coarse facial features and global developmental delay

UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal recessive 55: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Related Diseases for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

Diseases related to Neurodevelopmental Disorder with Microcephaly and Gray Sclerae via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dandy-walker syndrome 9.6 PUS3 HYLS1
2 anencephaly 9.6 PUS3 HYLS1
3 polyhydramnios 9.5 PUS3 HYLS1

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly and Gray Sclerae:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 failure to thrive in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001531
4 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
5 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
6 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
7 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
8 chronic kidney disease 58 31 frequent (33%) Frequent (79-30%) HP:0012622
9 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
10 decreased glomerular filtration rate 58 31 frequent (33%) Frequent (79-30%) HP:0012213
11 progressive microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000253
12 bilateral tonic-clonic seizure with focal onset 31 frequent (33%) HP:0007334
13 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
14 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
15 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
16 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
17 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
18 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
19 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
20 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
21 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
22 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
23 gait imbalance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002141
24 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
25 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
26 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
27 blue nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100814
28 cyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000961
29 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
30 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
31 tubulointerstitial nephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001970
32 visual hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002367
33 arachnoid cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0100702
34 pseudobulbar behavioral symptoms 58 31 occasional (7.5%) Occasional (29-5%) HP:0002193
35 dysplastic corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0006989
36 dilation of lateral ventricles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006956
37 multifocal hyperintensity of cerebral white matter on mri 58 31 occasional (7.5%) Occasional (29-5%) HP:0040329
38 ventriculomegaly 58 31 Occasional (29-5%) HP:0002119
39 seizures 58 Very frequent (99-80%)
40 gait disturbance 58 Occasional (29-5%)
41 microcephaly 31 HP:0000252
42 cerebral atrophy 31 HP:0002059
43 multifocal cerebral white matter abnormalities 58 Frequent (79-30%)
44 generalized tonic-clonic seizures with focal onset 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
global developmental delay
ventriculomegaly
cerebral atrophy
inability to walk
more
Abdomen Gastrointestinal:
dysphagia

Head And Neck Eyes:
strabismus
poor visual fixation
gray sclerae

Growth Other:
poor overall growth

Head And Neck Ears:
hearing loss, sensorineural (in 1 patient)

Cardiovascular Heart:
patent ductus arteriosus (in 1 family)

Skeletal Spine:
scoliosis

Growth Height:
short stature

Head And Neck Face:
coarse facies

Muscle Soft Tissue:
hypotonia, severe

Head And Neck Head:
microcephaly, borderline (-2.1 to -3.3 sd)

Skin Nails Hair Skin:
mongolian spots (in 1 family)

Clinical features from OMIM®:

617051 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

Genetic Tests for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

Genetic tests related to Neurodevelopmental Disorder with Microcephaly and Gray Sclerae:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 55 29 PUS3

Anatomical Context for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly and Gray Sclerae:

40
Kidney

Publications for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

Articles related to Neurodevelopmental Disorder with Microcephaly and Gray Sclerae:

# Title Authors PMID Year
1
Genetic basis of neurodevelopmental disorders in 103 Jordanian families. 57 6
32056211 2020
2
A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease. 6 57
30308082 2018
3
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. 6 57
28454995 2017
4
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. 57 6
27055666 2016

Variations for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HYLS1 NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) SNV Pathogenic/Likely pathogenic 253169 rs774005569 11:125763823-125763823 11:125893928-125893928
2 HYLS1 NM_031307.4(PUS3):c.1A>G (p.Met1Val) SNV Likely pathogenic 692029 rs543614309 11:125766179-125766179 11:125896284-125896284
3 HYLS1 NM_031307.4(PUS3):c.1179_1180CT[1] (p.Ser394fs) Microsatellite Likely pathogenic 619235 rs753229591 11:125763944-125763945 11:125894049-125894050
4 HYLS1 NM_031307.4(PUS3):c.1048C>T (p.Gln350Ter) SNV Likely pathogenic 930377 11:125764078-125764078 11:125894183-125894183
5 HYLS1 NM_031307.4(PUS3):c.366_367del (p.Ala123fs) Deletion Likely pathogenic 931751 11:125765813-125765814 11:125895918-125895919
6 HYLS1 NM_031307.4(PUS3):c.578G>A (p.Arg193Gln) SNV Likely pathogenic 632593 rs576405108 11:125765485-125765485 11:125895590-125895590
7 HYLS1 NM_031307.4(PUS3):c.497G>A (p.Arg166Gln) SNV Likely pathogenic 632594 rs200876642 11:125765566-125765566 11:125895671-125895671
8 HYLS1 NM_031307.4(PUS3):c.1082T>A (p.Met361Lys) SNV Uncertain significance 931750 11:125764044-125764044 11:125894149-125894149

Expression for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae.

Pathways for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

GO Terms for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

Sources for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

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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