NMIHBA
MCID: NRD026
MIFTS: 20

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 57 75 6
Nmihba 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth


HPO:

32
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 : 57 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 clonus

UniProtKB/Swiss-Prot : 75 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 clonus 32 HP:0002169
3 macrotia 32 HP:0000400
4 cataract 32 very rare (1%) HP:0000518
5 global developmental delay 32 HP:0001263
6 microcephaly 32 HP:0000252
7 optic atrophy 32 very rare (1%) HP:0000648
8 skeletal muscle atrophy 32 HP:0003202
9 protruding ear 32 HP:0000411
10 cerebral cortical atrophy 32 HP:0002120
11 proptosis 32 HP:0000520
12 plagiocephaly 32 HP:0001357
13 cerebellar atrophy 32 HP:0001272
14 generalized hypotonia 32 HP:0001290
15 spastic tetraparesis 32 HP:0001285
16 hypoplasia of the corpus callosum 32 HP:0002079
17 delayed myelination 32 HP:0012448

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:

41
Brain, Eye, Skeletal Muscle

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

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

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

75
# 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 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRUNE1 NM_021222.2(PRUNE1): c.521-2A> G single nucleotide variant Likely pathogenic rs886039608 GRCh37 Chromosome 1, 150997989: 150997989
2 PRUNE1 NM_021222.2(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_021222.2(PRUNE1): c.383G> A (p.Arg128Gln) single nucleotide variant Likely pathogenic rs767769359 GRCh37 Chromosome 1, 150997134: 150997134
6 PRUNE1 NM_021222.2(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

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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