MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:5933
Name:Hyperphenylalaninemia, BH4-Deficient, B
Definition:
Alternative IDs:OMIM:233910
ParentIDs:MESH:D010661
TreeNumbers:C10.228.140.163.100.687/C562656 |C16.320.565.100.766/C562656 |C16.320.565.189.687/C562656 |C18.452.132.100.687/C562656 |C18.452.648.100.766/C562656 |C18.452.648.189.687/C562656
Synonyms:GTP Cyclohydrolase I Deficiency |GTP CYCLOHYDROLASE I DEFICIENCY DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE, INCLUDED |HPABH4B |Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To GTP Cyclohydrolase I Def
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: C562656
MeSH: C562656
OMIM: 233910;
MSeqDR LSDB:  
Genes: GCH1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0000496Abnormality of eye movement
4 HP:0001266Choreoathetosis
5 HP:0002015Dysphagia
NAMDC:  Dysphagia
6 HP:0001332Dystonia
NAMDC:  Dystonia
7 HP:0001954Episodic fever
8 HP:0003781Excessive salivation
9 HP:0001263Global developmental delay
NAMDC:  Mental retardation
10 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
11 HP:0002487Hyperkinesis
12 HP:0004923Hyperphenylalaninemia
13 HP:0006887Intellectual disability, progressive
14 HP:0000737Irritability
15 HP:0001254Lethargy
16 HP:0002509Limb hypertonia
17 HP:0002344Progressive neurologic deterioration
18 HP:0002063Rigidity
19 HP:0001250Seizures
NAMDC:  Seizures
20 HP:0006829Severe muscular hypotonia
21 HP:0001337Tremor
22 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000161.3(GCH1):c.*1628A>C2643GCH1Uncertain significance185031007RCV000335964|RCV002480134|RCV000407257; NMONDO:MONDO:0100184,MedGen:C0268467|MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:98808; MONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910, Orphanet:2102, Orphanet:238583|MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:9880814553091075530910714:g.55309107T>GClinGen:CA10640293CN221588 Dystonia, dopa-responsive;
NM_000161.3(GCH1):c.*1033C>T2643GCH1Uncertain significance867220379RCV001114193|RCV001114194|RCV002505690; NMONDO:MONDO:0100184,MedGen:C0268467|MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:98808|MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:98808; MONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910, Orphanet:2102, Orphanet:23858314553097025530970214:g.55309702G>A-
NM_000161.3(GCH1):c.*34C>T2643GCH1Uncertain significance757193609RCV001111004|RCV001111005|RCV002505684; NMONDO:MONDO:0100184,MedGen:C0268467|MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:98808|MONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910, Orphanet:2102, Orphanet:238583; MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:9880814553107015531070114:g.55310701G>A-
NM_000161.3(GCH1):c.644T>C (p.Met215Thr)2643GCH1Likely pathogenic2140038918RCV002264873; NMONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910, Orphanet:2102, Orphanet:23858314553108445531084455310844-
NM_000161.3(GCH1):c.514G>A (p.Val172Ile)2643GCH1Uncertain significance1566660315RCV001823509; NMONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910, Orphanet:2102, Orphanet:23858314553138445531384455313844-
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu)2643GCH1Uncertain significance748944982RCV000513209|RCV001063206|RCV002481651; NMedGen:C3661900|MONDO:MONDO:0100184,MedGen:C0268467; MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:98808|MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:98808; MONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910, Orphanet:2102, Orphanet:238514553690545536905414:g.55369054G>CClinGen:CA7193636CN517202 not provided;
NM_000161.3(GCH1):c.299C>T (p.Ser100Leu)2643GCH1Uncertain significance527416949RCV001910908|RCV002490140; NMONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:98808; MONDO:MONDO:0100184,MedGen:C0268467|MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:98808; MONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910, Orphanet:2102, Orphanet:23858314553690835536908355369083-
NM_000161.3(GCH1):c.16G>T (p.Val6Leu)2643GCH1Uncertain significance1413964407RCV001948499|RCV002491979; NMONDO:MONDO:0100184,MedGen:C0268467; MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:98808|MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:98808; MONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910, Orphanet:2102, Orphanet:23858314553693665536936655369366-
NM_000161.3(GCH1):c.-56G>A2643GCH1Uncertain significance866010535RCV000293943|RCV000385904|RCV002480135; NMONDO:MONDO:0100184,MedGen:C0268467|MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:98808|MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230, Orphanet:98808; MONDO:MONDO:0100186,MedGen:CN305333,OMIM:233910, Orphanet:2102, Orphanet:23858314553694375536943714:g.55369437C>TClinGen:CA10644322CN221588 Dystonia, dopa-responsive;
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