Neurodevelopmental Disorder with Microcephaly and Gray Sclerae disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 617051

MeSH ⁴⁴ D008607

Orphanet ⁵⁸ ORPHA488627

MedGen ⁴¹ C4310745 CN237814

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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.

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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

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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)

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Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

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

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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

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Anatomical Context for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

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

⁴⁰

Kidney

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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	Froukh T...Buchert R	32056211	2020
2	A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease. ⁶ ⁵⁷	Abdelrahman HA...Al-Gazali L	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	Alfares A...Zada AAP	28454995	2017
4	A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. ⁵⁷ ⁶	Shaheen R...Alkuraya FS	27055666	2016

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Genes for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

Genes related to Neurodevelopmental Disorder with Microcephaly and Gray Sclerae (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PUS3	Pseudouridine Synthase 3	Protein Coding	950	Molecular basis known ⁵⁷ Causative germline mutation ⁵⁸ Genetic Tests ²⁹
2	HYLS1	HYLS1 Centriolar And Ciliogenesis Associated	Protein Coding	425	Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	27055666 28454995 30308082 (more) 32056211

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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

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Expression for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

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

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Pathways for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

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GO Terms for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

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Sources for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Neurodevelopmental Disorder with Microcephaly and Gray Sclerae (NEDMIGS)

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

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:

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Anatomical Context for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

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

Publications for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

Articles related to Neurodevelopmental Disorder with Microcephaly and Gray Sclerae:

Genes for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

Genes related to Neurodevelopmental Disorder with Microcephaly and Gray Sclerae (2 elite genes):

Variations for Neurodevelopmental Disorder with Microcephaly and Gray Sclerae

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

Expression 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