MCID: HYP722
MIFTS: 15

Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Categories: Genetic diseases

Aliases & Classifications for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

MalaCards integrated aliases for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient:

Name: Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 57 75 29 6
Hpanbh4 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable neurologic features
favorable response to treatment with neurotransmitter precursors and bh4 supplementation
no defect in bh4 metabolism


HPO:

32
hyperphenylalaninemia, mild, non-bh4-deficient:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

OMIM : 57 Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017). (617384)

MalaCards based summary : Hyperphenylalaninemia, Mild, Non-Bh4-Deficient, is also known as hpanbh4. An important gene associated with Hyperphenylalaninemia, Mild, Non-Bh4-Deficient is DNAJC12 (DnaJ Heat Shock Protein Family (Hsp40) Member C12). Related phenotypes are nystagmus and delayed speech and language development

UniProtKB/Swiss-Prot : 75 Hyperphenylalaninemia, mild, non-BH4-deficient: An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability.

Related Diseases for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Symptoms & Phenotypes for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
oculogyric crises

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
increased serum phenylalanine
decreased dopamine and serotonin metabolites in the cerebrospinal fluid

Neurologic Central Nervous System:
intellectual disability, mild
dystonia
parkinsonism
broad-based gait
extrapyramidal signs
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features


Clinical features from OMIM:

617384

Human phenotypes related to Hyperphenylalaninemia, Mild, Non-Bh4-Deficient:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 delayed speech and language development 32 HP:0000750
3 intellectual disability, mild 32 HP:0001256
4 global developmental delay 32 HP:0001263
5 generalized hypotonia 32 HP:0001290
6 parkinsonism 32 HP:0001300
7 dystonia 32 HP:0001332
8 broad-based gait 32 HP:0002136

Drugs & Therapeutics for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Search Clinical Trials , NIH Clinical Center for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Genetic Tests for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Genetic tests related to Hyperphenylalaninemia, Mild, Non-Bh4-Deficient:

# Genetic test Affiliating Genes
1 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 29 DNAJC12

Anatomical Context for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Publications for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Variations for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

UniProtKB/Swiss-Prot genetic disease variations for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient:

75
# Symbol AA change Variation ID SNP ID
1 DNAJC12 p.Arg72Pro VAR_078797

ClinVar genetic disease variations for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJC12 NM_021800.2(DNAJC12): c.298-968_503-2603del deletion Pathogenic
2 DNAJC12 NM_021800.2(DNAJC12): c.215G> C (p.Arg72Pro) single nucleotide variant Pathogenic rs1035794099 GRCh38 Chromosome 10, 67811606: 67811606
3 DNAJC12 NM_021800.2(DNAJC12): c.215G> C (p.Arg72Pro) single nucleotide variant Pathogenic rs1035794099 GRCh37 Chromosome 10, 69571364: 69571364
4 DNAJC12 NM_021800.2(DNAJC12): c.158-2A> T single nucleotide variant Pathogenic rs775029664 GRCh37 Chromosome 10, 69571423: 69571423
5 DNAJC12 NM_021800.2(DNAJC12): c.158-2A> T single nucleotide variant Pathogenic rs775029664 GRCh38 Chromosome 10, 67811665: 67811665

Expression for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Search GEO for disease gene expression data for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient.

Pathways for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

GO Terms for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Sources for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

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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