MCID: HYP698
MIFTS: 22

Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2

Categories: Genetic diseases

Aliases & Classifications for Hypotonia, Infantile, with Psychomotor Retardation and...

MalaCards integrated aliases for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

Name: Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 57 75 29 6
Ihprf2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or early infancy


HPO:

32
hypotonia, infantile, with psychomotor retardation and characteristic facies 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypotonia, Infantile, with Psychomotor Retardation and...

OMIM : 57 Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419). (616801)

MalaCards based summary : Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2, also known as ihprf2, is related to unc80 deficiency and hypotonia. An important gene associated with Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 is UNC80 (Unc-80 Homolog, NALCN Channel Complex Subunit). Affiliated tissues include brain, and related phenotypes are open mouth and thin upper lip vermilion

UniProtKB/Swiss-Prot : 75 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2: An autosomal recessive, neurodegenerative disease characterized by severe truncal hypotonia since birth or early infancy, progressive peripheral spasticity, and profound psychomotor developmental delay. Some patients may have seizures.

Related Diseases for Hypotonia, Infantile, with Psychomotor Retardation and...

Diseases related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 unc80 deficiency 10.9
2 hypotonia 9.9
3 infantile hypotonia 9.9

Symptoms & Phenotypes for Hypotonia, Infantile, with Psychomotor Retardation and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Face:
frontal bossing
smooth philtrum
short philtrum
high forehead
triangular face
more
Growth Other:
failure to thrive
intrauterine growth retardation (in some patients)

Head And Neck Head:
microcephaly
brachycephaly
plagiocephaly

Head And Neck Mouth:
open mouth
thin upper lip

Skeletal Spine:
scoliosis (in some patients)

Skeletal Pelvis:
hip contractures (in some patients)

Head And Neck Neck:
short neck

Head And Neck Eyes:
ptosis
nystagmus
strabismus
esotropia
epicanthal folds
more
Abdomen Gastrointestinal:
constipation
poor feeding

Head And Neck Nose:
anteverted nares
prominent nasal bridge
bulbous nose

Neurologic Central Nervous System:
intellectual disability, profound
encephalopathy
global developmental delay, severe
inability to walk independently
cerebral atrophy (in some patients)
more
Skeletal Hands:
tapering fingers

Muscle Soft Tissue:
hypotonia, severe, persistent
disuse muscle atrophy


Clinical features from OMIM:

616801

Human phenotypes related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

32 (show all 46)
# Description HPO Frequency HPO Source Accession
1 open mouth 32 HP:0000194
2 thin upper lip vermilion 32 HP:0000219
3 brachycephaly 32 HP:0000248
4 microcephaly 32 very rare (1%) HP:0000252
5 epicanthus 32 HP:0000286
6 facial hypotonia 32 very rare (1%) HP:0000297
7 smooth philtrum 32 HP:0000319
8 short philtrum 32 HP:0000322
9 triangular face 32 HP:0000325
10 broad forehead 32 HP:0000337
11 high forehead 32 HP:0000348
12 posteriorly rotated ears 32 HP:0000358
13 low-set ears 32 HP:0000369
14 bulbous nose 32 HP:0000414
15 prominent nasal bridge 32 HP:0000426
16 prominent nose 32 HP:0000448
17 anteverted nares 32 HP:0000463
18 short neck 32 HP:0000470
19 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
20 ptosis 32 HP:0000508
21 esotropia 32 very rare (1%) HP:0000565
22 nystagmus 32 HP:0000639
23 osteopenia 32 HP:0000938
24 tapered finger 32 HP:0001182
25 seizures 32 occasional (7.5%) HP:0001250
26 spasticity 32 HP:0001257
27 generalized hypotonia 32 HP:0001290
28 absent speech 32 very rare (1%) HP:0001344
29 plagiocephaly 32 HP:0001357
30 intrauterine growth retardation 32 occasional (7.5%) HP:0001511
31 failure to thrive in infancy 32 HP:0001531
32 frontal bossing 32 HP:0002007
33 constipation 32 HP:0002019
34 cerebral atrophy 32 occasional (7.5%) HP:0002059
35 hypoplasia of the corpus callosum 32 very rare (1%) HP:0002079
36 intellectual disability, profound 32 HP:0002187
37 global brain atrophy 32 HP:0002283
38 scoliosis 32 occasional (7.5%) HP:0002650
39 hip contracture 32 occasional (7.5%) HP:0003273
40 cachexia 32 very rare (1%) HP:0004326
41 profound static encephalopathy 32 HP:0007069
42 prominent forehead 32 HP:0011220
43 feeding difficulties 32 HP:0011968
44 appendicular hypotonia 32 very rare (1%) HP:0012389
45 profound global developmental delay 32 very rare (1%) HP:0012736
46 dyskinesia 32 occasional (7.5%) HP:0100660

Drugs & Therapeutics for Hypotonia, Infantile, with Psychomotor Retardation and...

Search Clinical Trials , NIH Clinical Center for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2

Genetic Tests for Hypotonia, Infantile, with Psychomotor Retardation and...

Genetic tests related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

# Genetic test Affiliating Genes
1 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 29 UNC80

Anatomical Context for Hypotonia, Infantile, with Psychomotor Retardation and...

MalaCards organs/tissues related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

41
Brain

Publications for Hypotonia, Infantile, with Psychomotor Retardation and...

Variations for Hypotonia, Infantile, with Psychomotor Retardation and...

UniProtKB/Swiss-Prot genetic disease variations for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

75
# Symbol AA change Variation ID SNP ID
1 UNC80 p.Val189Met VAR_075874 rs864321623
2 UNC80 p.Pro1700Ser VAR_075875 rs869025316

ClinVar genetic disease variations for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 UNC80 NM_032504.1(UNC80): c.565G> A (p.Val189Met) single nucleotide variant Likely pathogenic rs864321623 GRCh38 Chromosome 2, 209777524: 209777524
2 UNC80 NM_032504.1(UNC80): c.565G> A (p.Val189Met) single nucleotide variant Likely pathogenic rs864321623 GRCh37 Chromosome 2, 210642248: 210642248
3 UNC80 NM_032504.1(UNC80): c.1078C> T (p.Arg360Ter) single nucleotide variant Likely pathogenic rs200659479 GRCh38 Chromosome 2, 209813719: 209813719
4 UNC80 NM_032504.1(UNC80): c.1078C> T (p.Arg360Ter) single nucleotide variant Likely pathogenic rs200659479 GRCh37 Chromosome 2, 210678443: 210678443
5 UNC80 NM_032504.1(UNC80): c.3793C> T (p.Arg1265Ter) single nucleotide variant Likely pathogenic rs864321622 GRCh38 Chromosome 2, 209872917: 209872917
6 UNC80 NM_032504.1(UNC80): c.3793C> T (p.Arg1265Ter) single nucleotide variant Likely pathogenic rs864321622 GRCh37 Chromosome 2, 210737641: 210737641
7 UNC80 NM_032504.1(UNC80): c.5098C> T (p.Pro1700Ser) single nucleotide variant Likely pathogenic rs869025316 GRCh37 Chromosome 2, 210783340: 210783340
8 UNC80 NM_032504.1(UNC80): c.5098C> T (p.Pro1700Ser) single nucleotide variant Likely pathogenic rs869025316 GRCh38 Chromosome 2, 209918616: 209918616
9 UNC80 NM_032504.1(UNC80): c.7607G> C (p.Arg2536Thr) single nucleotide variant Likely pathogenic rs869025317 GRCh37 Chromosome 2, 210824431: 210824431
10 UNC80 NM_032504.1(UNC80): c.7607G> C (p.Arg2536Thr) single nucleotide variant Likely pathogenic rs869025317 GRCh38 Chromosome 2, 209959707: 209959707
11 UNC80 NM_032504.1(UNC80): c.2033delA (p.Asn678Thrfs) deletion Likely pathogenic rs869025318 GRCh37 Chromosome 2, 210685105: 210685105
12 UNC80 NM_032504.1(UNC80): c.2033delA (p.Asn678Thrfs) deletion Likely pathogenic rs869025318 GRCh38 Chromosome 2, 209820381: 209820381
13 UNC80 NM_032504.1(UNC80): c.7757T> A (p.Leu2586Ter) single nucleotide variant Likely pathogenic rs869025319 GRCh37 Chromosome 2, 210832310: 210832310
14 UNC80 NM_032504.1(UNC80): c.7757T> A (p.Leu2586Ter) single nucleotide variant Likely pathogenic rs869025319 GRCh38 Chromosome 2, 209967586: 209967586
15 UNC80 NM_032504.1(UNC80): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic rs869025320 GRCh37 Chromosome 2, 210640622: 210640622
16 UNC80 NM_032504.1(UNC80): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic rs869025320 GRCh38 Chromosome 2, 209775898: 209775898
17 UNC80 NM_032504.1(UNC80): c.1806G> C (p.Gln602His) single nucleotide variant Likely pathogenic rs200473652 GRCh37 Chromosome 2, 210683829: 210683829
18 UNC80 NM_032504.1(UNC80): c.1806G> C (p.Gln602His) single nucleotide variant Likely pathogenic rs200473652 GRCh38 Chromosome 2, 209819105: 209819105
19 UNC80 NM_032504.1(UNC80): c.6607G> A (p.Asp2203Asn) single nucleotide variant Likely pathogenic rs886041094 GRCh37 Chromosome 2, 210806103: 210806103
20 UNC80 NM_032504.1(UNC80): c.6607G> A (p.Asp2203Asn) single nucleotide variant Likely pathogenic rs886041094 GRCh38 Chromosome 2, 209941379: 209941379
21 UNC80 NM_032504.1(UNC80): c.2399delT (p.Leu800Trpfs) deletion Pathogenic rs1135401813 GRCh37 Chromosome 2, 210690698: 210690698
22 UNC80 NM_032504.1(UNC80): c.2399delT (p.Leu800Trpfs) deletion Pathogenic rs1135401813 GRCh38 Chromosome 2, 209825974: 209825974
23 UNC80 NM_032504.1(UNC80): c.4150G> T (p.Glu1384Ter) single nucleotide variant Pathogenic rs981874506 GRCh38 Chromosome 2, 209888128: 209888128
24 UNC80 NM_032504.1(UNC80): c.4150G> T (p.Glu1384Ter) single nucleotide variant Pathogenic rs981874506 GRCh37 Chromosome 2, 210752852: 210752852
25 UNC80 NM_032504.1(UNC80): c.8574+2T> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 209976305: 209976305
26 UNC80 NM_032504.1(UNC80): c.8574+2T> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 210841029: 210841029
27 UNC80 NM_032504.1(UNC80): c.8573_8574delAG (p.Lys2858Thrfs) deletion Pathogenic GRCh37 Chromosome 2, 210841026: 210841027
28 UNC80 NM_032504.1(UNC80): c.8573_8574delAG (p.Lys2858Thrfs) deletion Pathogenic GRCh38 Chromosome 2, 209976302: 209976303
29 UNC80 NM_032504.1(UNC80): c.1513C> T (p.Arg505Ter) single nucleotide variant Likely pathogenic rs767633598 GRCh37 Chromosome 2, 210681810: 210681810
30 UNC80 NM_032504.1(UNC80): c.1513C> T (p.Arg505Ter) single nucleotide variant Likely pathogenic rs767633598 GRCh38 Chromosome 2, 209817086: 209817086

Expression for Hypotonia, Infantile, with Psychomotor Retardation and...

Search GEO for disease gene expression data for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2.

Pathways for Hypotonia, Infantile, with Psychomotor Retardation and...

GO Terms for Hypotonia, Infantile, with Psychomotor Retardation and...

Sources for Hypotonia, Infantile, with Psychomotor Retardation and...

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