NMIHBA
MCID: NRD026
MIFTS: 21

Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies (NMIHBA)

Categories: Genetic diseases, Neuronal diseases

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

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies:

Name: Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies 58 76 6
Nmihba 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth


HPO:

33
neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies:
Onset and clinical course congenital onset progressive


Classifications:



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

OMIM : 58 NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017). (617481)

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies, is also known as nmihba. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies is PRUNE1 (Prune Exopolyphosphatase 1). Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are seizures and cataract

UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies: An autosomal recessive neurodevelopmental and degenerative disorder characterized by primary microcephaly, profound global developmental delay, and severe intellectual disability. Additional clinical features include dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination.

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

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

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 cataract 33 very rare (1%) HP:0000518
3 optic atrophy 33 very rare (1%) HP:0000648
4 clonus 33 HP:0002169
5 macrotia 33 HP:0000400
6 microcephaly 33 HP:0000252
7 skeletal muscle atrophy 33 HP:0003202
8 protruding ear 33 HP:0000411
9 cerebral cortical atrophy 33 HP:0002120
10 proptosis 33 HP:0000520
11 plagiocephaly 33 HP:0001357
12 cerebellar atrophy 33 HP:0001272
13 generalized hypotonia 33 HP:0001290
14 hypoplasia of the corpus callosum 33 HP:0002079
15 spastic tetraparesis 33 HP:0001285
16 profound global developmental delay 33 HP:0012736
17 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
clonus
cerebellar atrophy
delayed myelination
cortical atrophy
more
Skeletal Feet:
talipes equinovarus

Skeletal Skull:
plagiocephaly

Muscle Soft Tissue:
hypotonia
muscle atrophy

Head And Neck Eyes:
optic atrophy (in some patients)
prominent eyes
cataracts (in some patients)

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal Spine:
scoliosis

Head And Neck Head:
plagiocephaly
microcephaly (up to -6.0)

Head And Neck Face:
sloping forehead

Head And Neck Ears:
large ears
prominent ears

Skeletal:
joint contractures, progressive

Head And Neck Mouth:
narrow palate (in some patients)

Clinical features from OMIM:

617481

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

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies

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

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

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies:

42
Brain, Eye, Skeletal Muscle

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

Articles related to Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies:

# Title Authors Year
1
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. ( 28334956 )
2017
2
Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. ( 28211990 )
2017
3
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. ( 26539891 )
2015

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

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies:

76
# Symbol AA change Variation ID SNP ID
1 PRUNE1 p.Asp30Asn VAR_078986 rs105752192
2 PRUNE1 p.Asp106Asn VAR_078988 rs773618224
3 PRUNE1 p.Arg128Gln VAR_078989 rs767769359
4 PRUNE1 p.Arg297Trp VAR_078991 rs752599948

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRUNE1 NM_021222.1(PRUNE1): c.521-2A> G single nucleotide variant Likely pathogenic rs886039608 GRCh37 Chromosome 1, 150997989: 150997989
2 PRUNE1 NM_021222.1(PRUNE1): c.521-2A> G single nucleotide variant Likely pathogenic rs886039608 GRCh38 Chromosome 1, 151025513: 151025513
3 PRUNE1 NM_021222.2(PRUNE1): c.88G> A (p.Asp30Asn) single nucleotide variant Likely pathogenic rs1057521927 GRCh37 Chromosome 1, 150990336: 150990336
4 PRUNE1 NM_021222.2(PRUNE1): c.88G> A (p.Asp30Asn) single nucleotide variant Likely pathogenic rs1057521927 GRCh38 Chromosome 1, 151017860: 151017860
5 PRUNE1 NM_021222.1(PRUNE1): c.383G> A (p.Arg128Gln) single nucleotide variant Likely pathogenic rs767769359 GRCh37 Chromosome 1, 150997134: 150997134
6 PRUNE1 NM_021222.1(PRUNE1): c.383G> A (p.Arg128Gln) single nucleotide variant Likely pathogenic rs767769359 GRCh38 Chromosome 1, 151024658: 151024658
7 PRUNE1 NM_021222.2(PRUNE1): c.316G> A (p.Asp106Asn) single nucleotide variant Pathogenic/Likely pathogenic rs773618224 GRCh37 Chromosome 1, 150991126: 150991126
8 PRUNE1 NM_021222.2(PRUNE1): c.316G> A (p.Asp106Asn) single nucleotide variant Pathogenic/Likely pathogenic rs773618224 GRCh38 Chromosome 1, 151018650: 151018650
9 PRUNE1 NM_021222.2(PRUNE1): c.520G> T (p.Gly174Ter) single nucleotide variant Likely pathogenic rs200618384 GRCh37 Chromosome 1, 150997271: 150997271
10 PRUNE1 NM_021222.2(PRUNE1): c.520G> T (p.Gly174Ter) single nucleotide variant Likely pathogenic rs200618384 GRCh38 Chromosome 1, 151024795: 151024795
11 PRUNE1 NM_021222.2(PRUNE1): c.160C> A (p.Pro54Thr) single nucleotide variant Pathogenic rs1085308033 GRCh37 Chromosome 1, 150990970: 150990970
12 PRUNE1 NM_021222.2(PRUNE1): c.160C> A (p.Pro54Thr) single nucleotide variant Pathogenic rs1085308033 GRCh38 Chromosome 1, 151018494: 151018494
13 PRUNE1 NM_021222.2(PRUNE1): c.889C> T (p.Arg297Trp) single nucleotide variant Pathogenic rs752599948 GRCh37 Chromosome 1, 151001376: 151001376
14 PRUNE1 NM_021222.2(PRUNE1): c.889C> T (p.Arg297Trp) single nucleotide variant Pathogenic rs752599948 GRCh38 Chromosome 1, 151028900: 151028900
15 PRUNE1 NM_021222.3(PRUNE1): c.901A> G (p.Ile301Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 151001388: 151001388
16 PRUNE1 NM_021222.3(PRUNE1): c.901A> G (p.Ile301Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 151028912: 151028912

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

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies.

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

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

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

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