Hepatomegaly, and Intellectual disability, mild

Diseases related with Hepatomegaly and Intellectual disability, mild

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Intellectual disability, mild that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive|insensitivity to pain, channelopathy-associated|asymbolia for pain

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

Other less relevant matches:

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

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

Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Intellectual disability, mild

Symptoms // Phenotype % cases
Elevated hepatic transaminase Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertriglyceridemia Cardiomyopathy Pain Hearing impairment Generalized hypotonia Short stature Hepatosplenomegaly Skeletal muscle atrophy Thin upper lip vermilion Myopathy Hyperlipidemia Hepatic failure Hepatic fibrosis Cirrhosis Cardiomegaly Motor delay Congestive heart failure Fever Hepatic steatosis Elevated serum creatine phosphokinase Immunodeficiency

Rare Symptoms - Less than 30% cases

Hypoglycemia Cognitive impairment Full cheeks Midface retrusion Seizures Gait ataxia Depressed nasal bridge Growth delay Acetabular dysplasia Recurrent corneal erosions Hypertrophic cardiomyopathy Deeply set eye Abnormal facial shape Thin vermilion border Long philtrum Proximal muscle weakness Progressive muscle weakness Insulin resistance Obesity Recurrent infections Coarse facial features Wide nasal bridge Distal amyotrophy Epicanthus Exercise intolerance Smooth philtrum Low-set ears Ventricular hypertrophy Areflexia Broad nasal tip Hyperhidrosis Myalgia Ataxia Macroglossia Distal muscle weakness Macrotia Abnormality of the liver Reduced visual acuity Hyporeflexia Lipodystrophy Sensorineural hearing impairment Lipoatrophy Peripheral neuropathy Triangular face Hernia Strabismus Pancreatitis Acanthosis nigricans Accelerated skeletal maturation Tall stature Umbilical hernia Mandibular prognathia Epidermal acanthosis Hirsutism Nephrolithiasis Thrombocytopenia Abnormality of the genital system Hypertrichosis Visual impairment Polycystic ovaries Hyperinsulinemia Cystic angiomatosis of bone Generalized lipodystrophy Decreased fertility in females Pneumonia Decreased serum leptin Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Labial hypertrophy Reduced intrathoracic adipose tissue Acute pancreatitis Thick hair Clitoral hypertrophy Generalized muscular appearance from birth Bone cyst Microcephaly Long foot Nystagmus Decreased fertility Polyphagia High pitched voice Skeletal muscle hypertrophy Large hands Congenital generalized lipodystrophy Dysostosis multiplex Recurrent respiratory infections Low posterior hairline Abnormality of metabolism/homeostasis Inguinal hernia Prominent forehead Abdominal pain Hyperactivity Developmental regression Attention deficit hyperactivity disorder Synophrys Joint hypermobility High, narrow palate Memory impairment Hoarse voice Macrocephaly Periorbital fullness Generalized hirsutism Sleep apnea Hyperkinesis Cholelithiasis Prolonged partial thromboplastin time 2-3 toe syndactyly Thoracic hypoplasia Upper airway obstruction Hypoplastic nipples Protuberant abdomen Frontal bossing High palate Posteriorly rotated ears Albinism Upslanted palpebral fissure Retrognathia Photophobia Conductive hearing impairment Respiratory tract infection Carious teeth Spinal deformities Episodic abdominal pain Neutropenia Hip dysplasia Recurrent bacterial infections Pulmonary fibrosis Abnormality of the mitochondrion Periodontitis Ocular albinism Fair hair Interstitial pneumonitis Granulocytopenia Congenital neutropenia Intermittent thrombocytopenia Aberrant melanosome maturation Scoliosis Hypertelorism Long hallux Prolonged prothrombin time Hypertension Skeletal myopathy Abnormality of the Leydig cells Anosmia Acute hepatic failure Distal lower limb muscle weakness Saccadic smooth pursuit Dysmetric saccades Generalized limb muscle atrophy Stuttering Recurrent fractures Urinary incontinence Hypohidrosis Abnormal autonomic nervous system physiology Steppage gait Cerebellar vermis atrophy Anhidrosis Bowel incontinence Decreased number of peripheral myelinated nerve fibers Hyposmia Pain insensitivity Painless fractures due to injury Muscular hypotonia Peripheral axonal neuropathy Lactic acidosis Left ventricular hypertrophy Progressive gait ataxia Foot dorsiflexor weakness Abnormality of lipid metabolism Hypolipidemia Delayed speech and language development Abnormality of the nervous system Malabsorption Dysmetria Cholestasis Slurred speech Steatorrhea Fat malabsorption Vertical supranuclear gaze palsy Vitamin D deficiency Spasticity Sensorimotor neuropathy Hyperreflexia Optic atrophy Tremor Talipes equinovarus Cerebellar atrophy Paresthesia Distal sensory impairment Progressive cerebellar ataxia Sensory impairment Intention tremor Frequent falls Neurodevelopmental delay Increased muscle fatiguability Clubbing of toes Lymphadenopathy Periportal fibrosis Ketotic hypoglycemia Respiratory insufficiency Arrhythmia Arthralgia Joint stiffness Abnormal pyramidal sign Skin rash Arthrogryposis multiplex congenita Arachnodactyly Prominent nose Ketosis Thick lower lip vermilion Abnormality of the face Subcutaneous nodule Hyperostosis Right bundle branch block Increased antibody level in blood Elevated erythrocyte sedimentation rate Microcytic anemia Episodic fever Clubbing of fingers Erythema nodosum Micronodular cirrhosis Recurrent sinusitis Sinus tachycardia Difficulty running Increased hepatic glycogen content Fatigue Diabetes mellitus Difficulty walking Ichthyosis Waddling gait Fasciculations Easy fatigability Psoriasiform dermatitis Gowers sign Neck muscle weakness Progressive hearing impairment Progressive proximal muscle weakness Increased muscle lipid content Failure to thrive Anteverted nares Malar flattening Carcinoma Scarring Otitis media Epistaxis Decreased liver function Sinusitis Expressive language delay


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Abnormal blistering of the skin, related diseases and genetic alterations Ptosis and Joint stiffness, related diseases and genetic alterations Obesity and Sloping forehead, related diseases and genetic alterations Spasticity and Premature birth, related diseases and genetic alterations Cryptorchidism and Low-set ears, related diseases and genetic alterations Anemia and Cyanosis, related diseases and genetic alterations