Abnormal facial shape, and Abnormality of mitochondrial metabolism

Diseases related with Abnormal facial shape and Abnormality of mitochondrial metabolism

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Abnormality of mitochondrial metabolism that can help you solving undiagnosed cases.


Top matches:

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5


Related symptoms:

  • Abnormal facial shape
  • Cognitive impairment
  • Feeding difficulties
  • Epicanthus
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5

Low match OPTIC ATROPHY 11; OPA11


OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY 11; OPA11

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

Low match PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD


Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Low match LEIGH SYNDROME; LS


Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998).Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (OMIM ), complex II deficiency (OMIM ), complex III deficiency (OMIM ), complex IV deficiency (cytochrome c oxidase; {220110}), or complex V deficiency (OMIM ).

LEIGH SYNDROME; LS Is also known as necrotizing encephalopathy, infantile subacute, of leigh|sne

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about LEIGH SYNDROME; LS

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 7


3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Low match BETHLEM MYOPATHY


Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Low match LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME


Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014).

LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME Is also known as lethal neonatal rigidity-multifocal seizure syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME

Low match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of mitochondrial metabolism

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Increased serum lactate Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormal facial shape and Abnormality of mitochondrial metabolism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Seizures Optic atrophy Brain atrophy Intellectual disability Encephalopathy Acidosis Muscular hypotonia of the trunk Dystonia Strabismus Microcephaly Growth delay Cerebral atrophy Respiratory failure Muscular hypotonia Lactic acidosis Hyperreflexia Metabolic acidosis Cardiomyopathy Myoclonus Developmental regression Decreased activity of the pyruvate dehydrogenase complex Aciduria Ventriculomegaly Hyperactivity Failure to thrive Nystagmus Rigidity Cerebellar atrophy Flexion contracture Gliosis

Rare Symptoms - Less than 30% cases


Abnormality of eye movement Hypertrophic cardiomyopathy Neonatal hypotonia Hypertonia Agenesis of corpus callosum Cataract Scoliosis Progressive neurologic deterioration Lethargy Neurodegeneration Tetraplegia Spastic tetraplegia Respiratory insufficiency Choreoathetosis Dysphagia Round face Truncal ataxia Cognitive impairment Increased CSF lactate Progressive encephalopathy Upslanted palpebral fissure Mild microcephaly Ptosis Motor delay Global brain atrophy Dysarthria Frontal bossing Micrognathia Ophthalmoplegia Neuronal loss in central nervous system Visual impairment Absent speech Macrotia Tachypnea Ketosis Muscle weakness Myopathy Short stature Babinski sign Dysmetria Hyperammonemia Myopia Delayed myelination Vomiting Epicanthus Congenital muscular dystrophy Camptodactyly of finger Hip dislocation Abnormality of the foot Increased variability in muscle fiber diameter Distal amyotrophy Muscular dystrophy Long face Cachexia Limb-girdle muscular dystrophy Generalized muscle weakness Torticollis Peripheral axonal neuropathy Growth hormone deficiency Respiratory insufficiency due to muscle weakness EMG abnormality Congenital hip dislocation Lissencephaly Pachygyria Progressive microcephaly Scarring Congenital neutropenia Opisthotonus Myeloid leukemia Acute myeloid leukemia Dyslexia Upper motor neuron dysfunction Dysgraphia 3-Methylglutaconic aciduria Absence seizures Hip dysplasia Esotropia Inability to walk Joint stiffness High palate Talipes equinovarus Kyphosis Hyperhidrosis Hyperkeratosis Kyphoscoliosis Proximal muscle weakness Joint laxity Facial palsy Multiple joint contractures Protruding ear Feeding difficulties in infancy Spinal rigidity Mildly elevated creatine phosphokinase Multifocal seizures Short nose EEG abnormality Apnea Myelodysplasia Thin vermilion border Abnormality of the skeletal system Peripheral neuropathy Delayed speech and language development Uplifted earlobe Hypoplasia of the frontal lobes Myoclonic spasms Hypoplasia of the corpus callosum Limb joint contracture Muscle fibrillation Dysphasia Generalized myoclonic seizures Epileptic encephalopathy Abnormal autonomic nervous system physiology Narrow forehead Clonus Bradycardia Status epilepticus Delayed skeletal maturation Gait ataxia Generalized amyotrophy Slender build Difficulty climbing stairs Cerebral visual impairment Ankle contracture Progressive proximal muscle weakness Recurrent lower respiratory tract infections Proximal amyotrophy Delayed puberty Follicular hyperkeratosis Congenital cataract Type 1 muscle fiber predominance Muscle fiber necrosis Downslanted palpebral fissures Pectus carinatum Nocturnal hypoventilation Impaired mastication Hyperextensibility at wrists Increased laxity of fingers Increased laxity of ankles Low-set ears Deeply set eye Depressed nasal bridge High forehead Mandibular prognathia Dry skin Sensorineural hearing impairment Abnormality of extrapyramidal motor function Tetralogy of Fallot Exercise intolerance Ragged-red muscle fibers Glucose intolerance Exertional dyspnea Mitochondrial myopathy Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Cryptorchidism Edema Blindness Abnormal vertebral morphology Triangular face Aminoaciduria Abnormality of the vertebral column Titubation Acute encephalopathy Encephalomalacia Wide nasal bridge Anteverted nares Intellectual disability, severe Long philtrum Dilatation Blue sclerae Cirrhosis Pneumonia Cerebellar hypoplasia Hypoglycemia Elevated hepatic transaminase Abnormality of the liver Decreased liver function Poor suck Abnormality of coagulation Increased serum pyruvate Hearing impairment Macrocephaly Midface retrusion Hypermetropia Paresthesia Amblyopia Leukoencephalopathy Hyperkinesis Facial diplegia Abnormality of the basal ganglia Hyporeflexia Narrow mouth Dyspnea Malabsorption Poor speech Areflexia Cerebral cortical atrophy Neutropenia CNS demyelination Pallor Peripheral demyelination Pigmentary retinopathy Optic disc pallor Hypertrichosis Leukodystrophy Incoordination Failure to thrive in infancy Emotional lability Asymmetric septal hypertrophy Abnormal pattern of respiration Difficulty walking Respiratory arrest Hepatocellular necrosis Mitochondrial respiratory chain defects Episodic metabolic acidosis Recurrent infections Hypothyroidism Abnormal pyramidal sign Attention deficit hyperactivity disorder Leukemia Abnormality of movement Abnormality of the eye Gait disturbance Abnormality of the nervous system Preeclampsia Paralysis Small for gestational age Coma Clumsiness Heterotopia Partial agenesis of the corpus callosum Infantile spasms Central hypotonia Hyperventilation Mild global developmental delay Short attention span Skeletal muscle atrophy Breech presentation Episodic ataxia Severe lactic acidosis Broad philtrum Olivopontocerebellar atrophy Hyperalaninemia Flared nostrils Congenital lactic acidosis Chronic lactic acidosis Basal ganglia cysts Apneic episodes precipitated by illness, fatigue, stress Optic nerve hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopathy and Elevated hepatic transaminase, related diseases and genetic alterations Skeletal muscle atrophy and Photophobia, related diseases and genetic alterations Obesity and Myoclonus, related diseases and genetic alterations Cardiomyopathy and Pheochromocytoma, related diseases and genetic alterations Hypertelorism and Nail dystrophy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more