Abnormal facial shape, and Elevated hepatic transaminase

Diseases related with Abnormal facial shape and Elevated hepatic transaminase

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Elevated hepatic transaminase 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 NEPHRONOPHTHISIS 15; NPHP15


Related symptoms:

  • Seizures
  • Global developmental delay
  • Nystagmus
  • Abnormal facial shape
  • Blindness


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 15; NPHP15

Low match CCDC115-CDG


Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For a general discussion of CDGs, see CDG1A (OMIM ).

CCDC115-CDG Is also known as cdgiio|carbohydrate deficient glycoprotein syndrome type iio|congenital disorder of glycosylation type 2o|cdg-iio|cdg syndrome type iio|cdg iio|cdg2o|congenital disorder of glycosylation type iio

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ptosis
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CCDC115-CDG

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Other less relevant matches:

Low match PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2


Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

Low match GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH


GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Low match SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME


Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

Low match SECKEL SYNDROME 10; SCKL10


Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

Low match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Elevated hepatic transaminase

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Elevated hepatic transaminase. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Hepatomegaly Generalized hypotonia Hepatic steatosis Hepatic failure CNS hypomyelination Lactic acidosis Hypoglycemia Short stature Acidosis Decreased liver function

Rare Symptoms - Less than 30% cases


Delayed puberty Metabolic acidosis Intrauterine growth retardation Intellectual disability Increased serum lactate Elevated serum creatine phosphokinase Sensorineural hearing impairment Hypertension Micrognathia Hearing impairment Elevated serum aspartate aminotransferase Elevated serum alanine aminotransferase Abdominal aortic aneurysm Congestive heart failure Muscle weakness Acute pancreatitis Fever Fatigue Cardiomyopathy Intellectual disability, mild Prominent forehead Hypogonadism Hypothyroidism Dyspnea Cleft lip Cleft palate Elevated circulating follicle stimulating hormone level Elevated circulating luteinizing hormone level Acanthosis nigricans Severe short stature Diabetes mellitus Retinal detachment Ventricular hypertrophy Hypertriglyceridemia Microretrognathia Metaphyseal widening Dilatation Aortic aneurysm Cone-shaped epiphysis Glucose intolerance Glycosuria Insulin-resistant diabetes mellitus Skin tags Slender long bone Hypogonadotrophic hypogonadism Dilated cardiomyopathy Focal segmental glomerulosclerosis Osteoporosis Proteinuria Neutropenia Abnormal bleeding Nephrolithiasis Recurrent bacterial infections Hyperlipidemia Pancreatitis Inflammation of the large intestine Hyperuricemia Abnormal protein glycosylation Protuberant abdomen Hepatocellular carcinoma Enlarged kidney Gout Xanthomatosis Xanthelasma Oral ulcer Decreased glomerular filtration rate Lipemia retinalis Recurrent infections Type II transferrin isoform profile Tachycardia Malignant hyperthermia Muscle cramps Bifid uvula Chest pain Hepatitis Cardiac arrest Cerebral hypomyelination Exercise intolerance Abnormality of the coagulation cascade Rhabdomyolysis Pierre-Robin sequence Cerebral venous thrombosis Hyperinsulinemic hypoglycemia Small face Type I transferrin isoform profile Chronic hepatitis Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral white matter atrophy Cerebellar atrophy Corpus callosum atrophy Increased LDL cholesterol concentration Splenomegaly Hepatosplenomegaly Jaundice Cirrhosis Long face Hypercholesterolemia Prolonged neonatal jaundice Cholestatic liver disease Abnormal glycosylation Skeletal muscle atrophy Elevated alkaline phosphatase of bone origin Decreased serum ceruloplasmin Copper accumulation in liver Depressed nasal bridge Anteverted nares High forehead Apnea Polymicrogyria Downslanted palpebral fissures Ptosis Triangular face Ketosis Feeding difficulties Epicanthus Vomiting Tachypnea Hyperammonemia Poor suck Abnormality of mitochondrial metabolism Abnormality of coagulation Increased serum pyruvate Congenital blindness Nystagmus Blindness Obesity Polydactyly Retinal degeneration Cerebellar vermis hypoplasia Bronchiectasis Nephronophthisis Renal cyst Large fontanelles Episodic fever Cognitive impairment Postnatal growth retardation Full cheeks Round face Cholestasis Hyperextensible skin Strabismus Optic atrophy Intellectual disability, severe Dystonia Hydronephrosis Cerebral atrophy Hyperactivity Cerebral cortical atrophy Aggressive behavior Abnormal pyramidal sign Abnormality of eye movement Tetraplegia Brain atrophy Joint laxity Spasticity Wide anterior fontanel Ventriculomegaly Severe muscular hypotonia Lissencephaly Infantile muscular hypotonia Multiple renal cysts Severe failure to thrive Large face Low-set ears Brachydactyly Edema Redundant neck skin Patent ductus arteriosus Agenesis of corpus callosum Neonatal hypotonia Feeding difficulties in infancy Small for gestational age Lethargy Redundant skin Hypokinesia Doll-like facies



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and High, narrow palate, related diseases and genetic alterations Strabismus and Delayed speech and language development, related diseases and genetic alterations Hypertension and Short distal phalanx of finger, related diseases and genetic alterations Micrognathia and Retrognathia, related diseases and genetic alterations Cataract and Omphalocele, related diseases and genetic alterations

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