NEDMCR
MCID: NRD046
MIFTS: 17

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 75 6
Nedmcr 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death in childhood may occur
three unrelated consanguineous families have been reported (last curated march 2018)


HPO:

32
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities:
Onset and clinical course infantile onset


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 kidney, and related phenotypes are seizures and dysphagia

Description from OMIM: 617913

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

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia

Head And Neck Head:
microcephaly

Skeletal Pelvis:
congenital hip dislocation

Genitourinary Kidneys:
hydronephrosis
calcinosis
small kidneys
tubulopathy, variable

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

Growth Other:
poor overall growth

Cardiovascular Vascular:
hypertension secondary to renal disease

Neurologic Central Nervous System:
seizures
inability to walk
poor head control
delayed myelination
head lag
more
Head And Neck Face:
micrognathia

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
poor swallowing
gastroesophageal reflux disease

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


Clinical features from OMIM:

617913

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 dysphagia 32 HP:0002015
3 cataract 32 HP:0000518
4 global developmental delay 32 HP:0001263
5 optic atrophy 32 very rare (1%) HP:0000648
6 gastroesophageal reflux 32 HP:0002020
7 aminoaciduria 32 very rare (1%) HP:0003355
8 absent speech 32 HP:0001344
9 inability to walk 32 HP:0002540
10 renal hypoplasia 32 HP:0000089
11 hydronephrosis 32 HP:0000126
12 poor head control 32 HP:0002421
13 delayed myelination 32 HP:0012448
14 calcinosis 32 HP:0003761

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:

41
Brain, Kidney

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

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GEMIN4 NM_015721.2(GEMIN4): c.2452T> C (p.Trp818Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882219 GRCh38 Chromosome 17, 745591: 745591
2 GEMIN4 NM_015721.2(GEMIN4): c.2452T> C (p.Trp818Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882219 GRCh37 Chromosome 17, 648831: 648831

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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