Congestive heart failure, and Macroglossia

Diseases related with Congestive heart failure and Macroglossia

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Macroglossia that can help you solving undiagnosed cases.


Top matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W


Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W Is also known as lgmd2w

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Talipes equinovarus
  • Cardiomyopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I


Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I Is also known as lgmdr9|lgmd2i|muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related|muscular dystrophy, limb-girdle, autosomal recessive 9|limb-girdle muscular dystrophy due to fkrp deficiency|muscular dystrophy, limb-girdle, type 2i

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Respiratory insufficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I

Medium match FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE


FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C

Medium match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Medium match DUCHENNE MUSCULAR DYSTROPHY


Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

Medium match GLYCOGEN STORAGE DISEASE II; GSD2


Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Medium match MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2


Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Medium match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Macroglossia

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Macroglossia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Arrhythmia Splenomegaly Respiratory insufficiency Scoliosis Seizures Proximal muscle weakness Elevated serum creatine phosphokinase Muscular dystrophy Calf muscle hypertrophy Flexion contracture Difficulty running Thick lower lip vermilion Cardiomegaly Limb-girdle muscular dystrophy Failure to thrive Osteopenia Myopathy Exercise intolerance Cognitive impairment Muscular hypotonia Pain Intellectual disability, mild Dilatation Macrotia Hearing impairment Dyspnea Global developmental delay Fever Hepatosplenomegaly Progressive proximal muscle weakness Difficulty climbing stairs Myalgia Progressive muscle weakness Waddling gait Respiratory failure Hyperlordosis Dilated cardiomyopathy Scapular winging

Rare Symptoms - Less than 30% cases


Increased antibody level in blood Erythema nodosum Clubbing of fingers Microcytic anemia Elevated erythrocyte sedimentation rate Restrictive ventilatory defect Lipodystrophy Kyphosis Prominent nose Hypertension Skin rash Arthralgia Hyperhidrosis Difficulty walking Muscle fiber necrosis Lymphadenopathy Recurrent respiratory infections Intellectual disability, severe Intestinal pseudo-obstruction Elbow flexion contracture Growth abnormality Macrocephaly Coarse facial features Umbilical hernia Ptosis Tetraparesis Delayed eruption of teeth Intellectual disability, profound Diarrhea Hypertrichosis Exertional dyspnea Intellectual disability, progressive Limb muscle weakness Attention deficit hyperactivity disorder Scarring EEG abnormality Gowers sign Calf muscle pseudohypertrophy Motor delay Abnormal facial shape Inability to walk Shortened PR interval Nocturnal hypoventilation Hypertrophic cardiomyopathy Achilles tendon contracture Falls Hypoglycemia Shoulder girdle muscle weakness Frequent falls Left ventricular failure Toe walking Pelvic girdle muscle weakness Restrictive deficit on pulmonary function testing Myoglobinuria Congenital muscular dystrophy Pneumonia Apnea Gingival fibromatosis Retinopathy Long penis Corneal opacity Dolichocephaly Abnormality of the cerebral white matter Neurodegeneration Tetraplegia Colpocephaly Postural instability Thin bony cortex Severe short stature Asthma Pigmentary retinopathy Spastic tetraplegia Dystrophic fingernails Broad ribs Progressive neurologic deterioration Recurrent otitis media Split hand Abnormality of retinal pigmentation Hoarse voice Rod-cone dystrophy Short neck Pes cavus Rimmed vacuoles Elevated hepatic transaminase Arthritis Erythema Abnormality of the liver Camptodactyly of finger Hypertriglyceridemia Hyperpigmentation of the skin Bone pain Lymphopenia Conjunctivitis Glucose intolerance Long fingers Hypermelanotic macule Basal ganglia calcification Myositis Inguinal hernia Abnormally large globe Immune dysregulation Generalized lipodystrophy Flexion contracture of toe Hypochromic anemia Panniculitis Episcleritis Stiff skin Finger swelling Adipose tissue loss Visual impairment Short distal phalanx of toe Aortic regurgitation Hydrocephalus Spastic tetraparesis Thick vermilion border Widely spaced teeth Patent ductus arteriosus High palate Brachydactyly Generalized hirsutism Gingival overgrowth Wide nasal bridge Babinski sign Biliary atresia Downslanted palpebral fissures Abnormality of the skeletal system Thickened skin Generalized hypertrichosis Nephrolithiasis Small nail Hernia Posteriorly rotated ears Cataract Polydactyly Mandibular prognathia Polyhydramnios Protruding ear Wide mouth Broad forehead Bilateral sensorineural hearing impairment Congenital cataract Synophrys Joint hypermobility Bulbous nose Thick eyebrow Short distal phalanx of finger Hirsutism Hemivertebrae Sensorineural hearing impairment Corneal dystrophy Anonychia Protruding tongue Sleep apnea Overgrowth Incoordination Mild short stature Aortic root aneurysm Abnormal heart valve morphology Scaphocephaly Papilledema Obstructive sleep apnea Dysostosis multiplex Pericardial effusion Myelopathy Retinal fold Heparan sulfate excretion in urine Accelerated skeletal maturation Tracheobronchomalacia Spina bifida occulta Strabismus Dermatan sulfate excretion in urine Hemangioma Metaphyseal widening Retinoschisis Hyperextensibility of the finger joints Urinary glycosaminoglycan excretion Everted upper lip vermilion Aortic arch aneurysm Prominent eyelashes Cervical cord compression Cavernous hemangioma Large for gestational age Myopia Absent muscle dystrophin expression Thrombocytopenia Abnormal pyramidal sign Upper limb muscle weakness Neck flexor weakness Muscle fiber atrophy Tip-toe gait Right ventricular dilatation Increased endomysial connective tissue Left ventricular systolic dysfunction Abnormal macrophage morphology EMG: myotonic runs EMG: positive sharp waves EMG: myotonic discharges Absent muscle fiber gamma sarcoglycan Reduced muscle fiber alpha sarcoglycan Joint stiffness Arthrogryposis multiplex congenita Increased variability in muscle fiber diameter Arachnodactyly Abnormality of the face Subcutaneous nodule Hyperostosis Right bundle branch block Lipoatrophy Episodic fever Clubbing of toes Abnormality of the Leydig cells Delayed speech and language development Blindness Vomiting Behavioral abnormality Cerebral atrophy Right ventricular hypertrophy Skeletal muscle hypertrophy Constipation Micrognathia Talipes equinovarus Increased connective tissue Reduced systolic function Triangular tongue Kyphoscoliosis Muscle cramps Abnormal lung morphology Vertebral fusion Diaphragmatic weakness Exercise-induced myoglobinuria Abnormality of the Achilles tendon Thigh hypertrophy Reduced muscle fiber alpha dystroglycan Reduced muscle fiber merosin Respiratory distress EMG: myopathic abnormalities Pulmonary edema Broad-based gait Lumbar hyperlordosis Long face Unsteady gait Facial palsy Biventricular hypertrophy Sinus bradycardia Ascites Enlarged kidney Neonatal hypoglycemia Heart murmur Bradycardia Cyanosis Hypotension Hyporeflexia Hyperactivity Recurrent infections Respiratory insufficiency due to muscle weakness Gastroesophageal reflux Conductive hearing impairment Paralysis Stroke Generalized muscle weakness Urinary incontinence Peripheral demyelination Abnormality of the cardiovascular system Type II diabetes mellitus Ventricular hypertrophy Aspiration EMG abnormality Macular degeneration Atherosclerosis Delayed gross motor development Areflexia Increased muscle fatiguability Edema Anemia Short stature Firm muscles Abnormal CNS myelination Abdominal wall muscle weakness Diaphragmatic paralysis Atrioventricular block Stroke-like episode Wolff-Parkinson-White syndrome Dilatation of the cerebral artery Dysphasia Emphysema Nasal speech Acidosis Abnormality of metabolism/homeostasis Abnormality of the eye Male pseudohermaphroditism Respiratory tract infection Distal muscle weakness Nyctalopia Cough Distal amyotrophy Chest pain Sudden cardiac death Specific learning disability Ventricular arrhythmia Hypokalemia Myotonia Abnormality of color vision Hypoventilation Abnormal EKG Chromosome breakage Headache Hemiatrophy Dysphagia Fatigue Gait disturbance Feeding difficulties Growth delay Red-green dyschromatopsia Proximal lower limb amyotrophy Limb-girdle muscle weakness Gastroparesis Shoulder girdle muscle atrophy Proximal muscle weakness in lower limbs Gastrointestinal dysmotility Breech presentation Congenital stationary night blindness Mesiodens



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