Phenotypes for disease #01895 (HMGCLD (HMG-CoA lyase deficiency), OMIM:246450)

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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140 entries on 2 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000297667	see paper; ..., non-ketotic hypoglycemia, lethargy, urinary organic acid excretion characteristic of HL deficiency	HMG-CoA lyase deficiency	HMGCL	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405118
0000297669	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405120
0000297670	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405121
0000297671	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405122
0000297672	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405123
0000297673	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405124
0000297674	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405125
0000297675	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405126
0000297676	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405127
0000297677	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405128
0000297678	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405129
0000297679	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405130
0000297680	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405131
0000297681	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405132
0000297682	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405133
0000297683	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405134
0000297684	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405135
0000297685	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405136
0000297686	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405137
0000297687	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405138
0000297688	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405139
0000297689	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405140
0000297690	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405141
0000297691	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405142
0000297692	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405143
0000297693	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405144
0000297694	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405145
0000297695	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405146
0000297696	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405147
0000297697	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405148
0000297698	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405149
0000297699	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405150
0000297700	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405151
0000297701	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405152
0000297702	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405153
0000297703	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405154
0000297704	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405155
0000297705	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405156
0000297706	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405157
0000297707	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405158
0000297708	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405159
0000297709	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405160
0000297710	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405161
0000297711	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405162
0000297712	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405163
0000297713	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405164
0000297714	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405165
0000297715	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405166
0000297716	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405167
0000297717	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405168
0000297718	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405169
0000297719	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405170
0000297720	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405171
0000297721	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405172
0000297722	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405173
0000297723	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405174
0000297724	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Muhammad Umair	00405175
0000297912	see paper; ..., 2d-seizures, metabolic acidosis, normalized with supportive treatment; 9m-moderate developmental delay, upper respiratory infection	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405364
0000297913	see paper; ..., 4d-tachypnea, hepatomegaly, lethargy, hypotonia	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405367
0000297914	see paper; ..., 9m-acute episode diagnosed as Reye-like syndrome	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	17y	-	-	-	-	Johan den Dunnen	00405368
0000297915	see paper; ..., vomiting, hypotonia, hepato- megaly, metabolic acidosis without ketosis	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405384
0000297916	see paper; ..., 2d-vomiting, convulsions, hypotonia, slight hepatomegaly, hypoglycaemia corrrected by intravenous glucoe administration	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405385
0000297959	see paper; ..., tachypnea, lethargy, hypotonia, convulsions	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405428
0000297960	see paper; ..., vomiting, lethargy, convulsions, hypoglycemia, liver dysfunction, metabolic acidosis, hyperammonemi; 4y4m-normal development	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	04y04m	-	-	7m	-	Johan den Dunnen	00405429
0000297961	see paper; ..., vomiting, drowsiness, hypoglycemia, metabolic acidosis, hyperammonemia; 9y10m-normal development	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	9y10m	-	-	1d	-	Johan den Dunnen	00405430
0000297962	see paper; ..., coma, convulsion, hypoglycemia, metabolic acidosis, hyperammonemia; 3y8m-normal development	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	3y8m	-	-	1y3m	-	Johan den Dunnen	00405431
0000297963	see paper; ..., drowsiness, hypoglycemia, metabolic acidosis, liver dysfunction; 3y6m-normal development	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	3y6m	-	-	1y2m	-	Johan den Dunnen	00405432
0000297964	see paper; ..., hypothermia, convulsions, hypoglycemia, metabolic acidosis, liver dysfunction; 4y9m-bilateral occipital porencephaly	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	04y09m	-	-	2d	-	Johan den Dunnen	00405433
0000297969	see paper; ..., 3d-metabolic acidosis, discharged with diagnosis tubular renal acidosis; 3m-vomiting, lethargy, hypotonia, hepatomegaly	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405446
0000297970	see paper; ...	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	06y	-	-	-	-	Johan den Dunnen	00405447
0000297971	see paper; ...	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	04y	-	-	-	-	Johan den Dunnen	00405448
0000297972	see paper; ...	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	18y	-	00y18m	-	-	Johan den Dunnen	00405449
0000297973	see paper; ...	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	00y05m	-	-	-	-	Johan den Dunnen	00405450
0000297974	see paper; ..., 48h-metabolic acidosis, hypoglycemia	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	00y00m02d	-	-	Johan den Dunnen	00405451
0000297975	see paper; ..., 4m-aciduria, recurrent vomiting, muscular hypotonia, comatose attacks, hyperammonemia, liver dysfunction, massive excretion of organic acids typical of HMG-CoA lyase deficiency	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	00y04m	-	-	Johan den Dunnen	00405452
0000297976	see paper; ...	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	00y05m	-	-	-	-	Johan den Dunnen	00405453
0000297978	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405455
0000297979	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405456
0000297980	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405457
0000297981	see paper; ..., generalized tonic-clonic seizures	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	00y08m	-	-	-	-	Johan den Dunnen	00405458
0000298012	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405489
0000298013	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405490
0000298014	seizures, hypoglycaemia, sepsis	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	09y	-	-	-	-	Johan den Dunnen	00405491
0000298015	vomiting, hypoglycaemia, metabolic acidosis	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	12y	-	-	-	-	Johan den Dunnen	00405492
0000298016	seizures, vomiting, metabolic acidosis, hyperammonaemia	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	17y	-	-	-	-	Johan den Dunnen	00405493
0000298017	hypoglycaemia, hepatomegaly, metabolic acidosis	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	00y10m	-	-	-	-	Johan den Dunnen	00405494
0000298018	see paper; ..., HL deficiency, tachypnea, hypothermia, hypoglycemia, metabolic acidosis, disturbed consciousness	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	15y	-	-	-	-	Johan den Dunnen	00405495
0000298019	see paper; ..., 4m-respiratory tract infection, fevers, alternations in consciousness, hepatomegaly, metabolic acidosis, impaired liver function, hyperammonemia, hypoglycemia, generalized tonic and clonic convulsions	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00405496
0000298036	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405513
0000298037	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405514
0000298038	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405515
0000298039	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405516
0000298040	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405517
0000298041	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405518
0000298042	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405519
0000298043	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405520
0000298044	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405521
0000298045	-	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00405522
0000298046	see paper; ...	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	03y	-	-	-	-	Johan den Dunnen	00405523
0000298047	see paper; ..., macrocephaly, left ventricular noncompaction, recurrent pulmonary infections, nonketotic hypoglycemia, seizure, metabolic acidosis	HMG-CoA lyase deficiency	HMGCLD	Familial, autosomal recessive	00y08m	-	-	-	-	Johan den Dunnen	00405524

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Global Variome shared LOVD

CXCR3 (chemokine (C-X-C motif) receptor 3)