Microphthalmia, and Increased serum lactate

Diseases related with Microphthalmia and Increased serum lactate

In the following list you will find some of the most common rare diseases related to Microphthalmia and Increased serum lactate that can help you solving undiagnosed cases.


Top matches:

High match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

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

Low match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

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Other less relevant matches:

Low match BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Low match BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3


Related symptoms:

  • Global developmental delay
  • Acidosis
  • Hypoglycemia
  • Metabolic acidosis
  • Increased serum lactate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21


Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21 Is also known as coxpd21

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypoplasia of the corpus callosum
  • Hypertonia
  • Muscular hypotonia of the trunk


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23


Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Top 5 symptoms//phenotypes associated to Microphthalmia and Increased serum lactate

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Microphthalmia and Increased serum lactate. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Frontal bossing Nephrocalcinosis Dehydration Aciduria Metabolic acidosis Hypokalemia Hyperaldosteronism Hypercalciuria Failure to thrive Cataract

Rare Symptoms - Less than 30% cases


Visual impairment Abnormally large globe Protruding ear Fetal polyuria Increased urinary potassium Hypochloremia Motor delay Congenital cataract Hypokalemic metabolic alkalosis Delayed puberty Long face Muscular hypotonia Metabolic alkalosis Alkalosis Renal salt wasting Hyperchloriduria Lactic acidosis Hyponatremia Arrhythmia Prominent forehead Short stature Polyhydramnios Small for gestational age Nephrolithiasis Nystagmus Triangular face Premature birth Hypoplasia of the corpus callosum Polydipsia Polyuria Scoliosis Micrognathia Hypokalemic alkalosis Feeding difficulties in infancy Hypertrophic cardiomyopathy Abnormal facial shape Long philtrum Renal insufficiency Cognitive impairment Cardiomyopathy Short nose Constipation Upslanted palpebral fissure High forehead Mandibular prognathia Hyporeflexia Muscular hypotonia of the trunk Deeply set eye Abnormality of mitochondrial metabolism Peripheral neuropathy Inability to walk Sparse hair Abnormality of the skeletal system Optic atrophy Hepatic failure Bulbous nose Myopia Spasticity Delayed speech and language development Distal amyotrophy Hip dysplasia Delayed myelination Underdeveloped nasal alae Postnatal microcephaly Infantile muscular hypotonia Tented upper lip vermilion Dystonia Absence seizures Peripheral axonal neuropathy Optic nerve hypoplasia Hypertelorism Ataxia Pectus carinatum High palate Gait ataxia Depressed nasal bridge Delayed skeletal maturation Absent speech Microcephaly Hypoammonemia Esotropia Epicanthus Downslanted palpebral fissures Anteverted nares Abnormality of the foot Cerebellar atrophy Dense posterior cortical cataract Hypomagnesemia Adducted thumb Hypernatriuria Sensorineural hearing impairment Fatigue Edema Stage 5 chronic kidney disease Postural instability Hydrops fetalis Glomerulosclerosis Congenital sensorineural hearing impairment Tubulointerstitial fibrosis Decreased glomerular filtration rate Mesangial hypercellularity Low-to-normal blood pressure Global glomerulosclerosis Hypochloremic metabolic alkalosis Hypokalemic hypochloremic metabolic alkalosis Reduced renal corticomedullary differentiation Coloboma Hypoglycemia Hypertonia Hepatic steatosis Limb hypertonia Intrauterine growth retardation Hearing impairment Renal juxtaglomerular cell hypertrophy/hyperplasia Pain Hyperkalemia Fever Macrocephaly Vomiting Diarrhea Macrotia Osteopenia Paresthesia Muscle cramps Generalized muscle weakness Ventricular arrhythmia Hyperthyroidism Increased serum prostaglandin E2 Lentiglobus Chondrocalcinosis Tetany Impaired platelet aggregation Increased circulating renin level Hypocalciuria Pseudohypoaldosteronism Hyposthenuria Renal potassium wasting Hyperactive renin-angiotensin system Hyperprostaglandinuria Wrist swelling Lacrimation abnormality Abnormality of dentin Delayed eruption of teeth Camptodactyly of finger Attention deficit hyperactivity disorder Corneal opacity Hip dislocation Platyspondyly Malabsorption Carious teeth Genu valgum Joint hyperflexibility Joint hypermobility Hematuria Everted lower lip vermilion Recurrent fractures Irritability Abnormal bleeding Full cheeks Abnormality of the ribs Fine hair Sparse scalp hair Osteoarthritis Open mouth Abnormality of the metaphysis Subcutaneous nodule Hypoplasia of dental enamel Dental crowding Amblyopia Joint stiffness Low-set, posteriorly rotated ears Abnormality of epiphysis morphology Areflexia Growth delay Strabismus Cryptorchidism Anemia Ventriculomegaly Respiratory insufficiency Blindness Abnormality of the dentition Behavioral abnormality Kyphosis Thrombocytopenia Depressivity Inguinal hernia Intellectual disability, moderate Recurrent respiratory infections Glaucoma Reduced visual acuity Gastroesophageal reflux Umbilical hernia Thin upper lip vermilion EEG abnormality Neonatal hypotonia Arthritis Anxiety Proteinuria Aggressive behavior Stereotypy Clonus Bicarbonaturia Renal Fanconi syndrome Gingivitis Periodontitis Taurodontia Renal tubular dysfunction Generalized hypopigmentation Atelectasis Hyperphosphaturia Buphthalmos Abnormal pupil morphology Abnormality of the renal tubule Cheilitis Keloids Urogenital fistula Patellar dislocation Proximal renal tubular acidosis Vitamin D deficiency Oligosacchariduria Chorioretinal dysplasia Abnormality of calcium-phosphate metabolism Elevated serum acid phosphatase Benign neoplasm of the central nervous system Periventricular cysts Elevated amniotic fluid alpha-fetoprotein Finger swelling Odontogenic neoplasm Elevated maternal serum alpha-fetoprotein Atypical scarring of skin Multiple renal cysts Skin ulcer Self-injurious behavior Joint contracture of the hand Narrow palate Aminoaciduria Abnormality of dental enamel Azoospermia Neoplasm of the skin Hypercholesterolemia Reduced number of teeth Deep philtrum Abnormality of the voice Rickets Glomerulonephritis Chronic otitis media Joint swelling Obsessive-compulsive behavior Flat occiput Diabetes insipidus Open bite Hypophosphatemia Dysphasia Congenital glaucoma Pathologic fracture Hyperparathyroidism Abnormal joint morphology Glomerulopathy Osteomalacia Renal tubular acidosis Congestive heart failure



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Muscular dystrophy, related diseases and genetic alterations Depressed nasal bridge and Alopecia, related diseases and genetic alterations Cleft palate and Polyhydramnios, related diseases and genetic alterations Hypertension and Abnormality of the metaphysis, related diseases and genetic alterations Global developmental delay and Prominent forehead, related diseases and genetic alterations Autoimmunity and Pes planus, related diseases and genetic alterations

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