NEDMCR
MCID: NRD046
MIFTS: 21

Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities (NEDMCR)

Categories: Genetic diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities:

Name: Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 57 72 6
Nedmcr 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death in childhood may occur


HPO:

31
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

UniProtKB/Swiss-Prot : 72 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities: An autosomal recessive, severe neurodevelopmental disorder characterized by global developmental delay since infancy, microcephaly, poor or absent speech, and inability to walk or spasticity. Additional features include renal abnormalities, congenital cataracts, gastroesophageal reflux disease, seizures with onset in infancy or childhood, hyporeflexia, and non-specific white matter abnormalities on brain imaging.

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities, is also known as nedmcr. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities is GEMIN4 (Gem Nuclear Organelle Associated Protein 4). Affiliated tissues include brain, and related phenotypes are optic atrophy and aminoaciduria

More information from OMIM: 617913

Related Diseases for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 31 very rare (1%) HP:0000648
2 aminoaciduria 31 very rare (1%) HP:0003355
3 dysphagia 31 HP:0002015
4 high palate 31 HP:0000218
5 osteopenia 31 HP:0000938
6 cataract 31 HP:0000518
7 microcephaly 31 HP:0000252
8 gastroesophageal reflux 31 HP:0002020
9 absent speech 31 HP:0001344
10 micrognathia 31 HP:0000347
11 congenital hip dislocation 31 HP:0001374
12 hydronephrosis 31 HP:0000126
13 renal hypoplasia 31 HP:0000089
14 hyporeflexia 31 HP:0001265
15 severe global developmental delay 31 HP:0011344
16 poor head control 31 HP:0002421
17 inability to walk 31 HP:0002540
18 calcinosis 31 HP:0003761
19 delayed myelination 31 HP:0012448
20 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
poor head control
central hypotonia
inability to walk
delayed myelination
more
Head And Neck Head:
microcephaly

Skeletal Pelvis:
congenital hip dislocation

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Eyes:
cataracts
optic atrophy (1 patient)

Abdomen Gastrointestinal:
poor swallowing
gastroesophageal reflux disease

Cardiovascular Vascular:
hypertension secondary to renal disease

Skeletal:
osteopenia

Head And Neck Face:
micrognathia

Genitourinary Kidneys:
hydronephrosis
calcinosis
small kidneys
tubulopathy, variable

Head And Neck Mouth:
high-arched palate

Growth Other:
poor overall growth

Laboratory Abnormalities:
aminoaciduria (in some patients)
electrolyte abnormalities due to renal disease (in some patients)

Skeletal Limbs:
epiphyseal dysplasia, mild

Clinical features from OMIM®:

617913 (Updated 20-May-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities

Genetic Tests for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Anatomical Context for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities:

40
Brain

Publications for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Articles related to Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities:

# Title Authors PMID Year
1
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract. 6 57
27878435 2017
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 57 6
25558065 2015
3
Autozygome and high throughput confirmation of disease genes candidacy. 57
30237576 2019

Variations for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GEMIN4 NM_015721.3(GEMIN4):c.494G>A (p.Trp165Ter) SNV Pathogenic 1028000 GRCh37: 17:650789-650789
GRCh38: 17:747549-747549
2 GEMIN4 NM_015721.3(GEMIN4):c.1316_1317delinsAAT (p.Ala439fs) Indel Pathogenic 1031936 GRCh37: 17:649966-649967
GRCh38: 17:746726-746727
3 GEMIN4 NM_015721.3(GEMIN4):c.2546del (p.Phe849fs) Deletion Pathogenic 1031938 GRCh37: 17:648737-648737
GRCh38: 17:745497-745497
4 GEMIN4 NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg) SNV Likely pathogenic 183310 rs730882219 GRCh37: 17:648831-648831
GRCh38: 17:745591-745591
5 GEMIN4 NM_015721.3(GEMIN4):c.3094C>T (p.Gln1032Ter) SNV Uncertain significance 638472 rs574891003 GRCh37: 17:648189-648189
GRCh38: 17:744949-744949
6 GEMIN4 NM_015721.3(GEMIN4):c.1580A>G (p.Asn527Ser) SNV Uncertain significance 983113 GRCh37: 17:649703-649703
GRCh38: 17:746463-746463
7 GEMIN4 NM_015721.3(GEMIN4):c.2264C>T (p.Ser755Phe) SNV Uncertain significance 1027999 GRCh37: 17:649019-649019
GRCh38: 17:745779-745779
8 GEMIN4 NM_015721.3(GEMIN4):c.1787C>T (p.Pro596Leu) SNV Uncertain significance 1031937 GRCh37: 17:649496-649496
GRCh38: 17:746256-746256
9 GEMIN4 NM_015721.3(GEMIN4):c.673C>T (p.Gln225Ter) SNV Uncertain significance 1028001 GRCh37: 17:650610-650610
GRCh38: 17:747370-747370

Expression for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities.

Pathways for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

GO Terms for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Sources for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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