Hepatomegaly, and Iris coloboma

Diseases related with Hepatomegaly and Iris coloboma

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

Top matches:

High match ALG2-CDG

ALG2-CDG is a form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.

ALG2-CDG Is also known as congenital disorder of glycosylation type 1i|cdg ii|cdgii|cdg syndrome type ii|mannosyltransferase 2 deficiency|carbohydrate deficient glycoprotein syndrome type ii|cdg1i|congenital disorder of glycosylation type ii|cdg-ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG2-CDG

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Other less relevant matches:

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

High match ACROOSTEOLYSIS

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

BRANCHIO-OCULO-FACIAL SYNDROME Is also known as bofs|hemangiomatous branchial clefts-lip pseudocleft syndrome|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging|bof syndrome|lip pseudocleft-hemangiomatous branchial cyst syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIO-OCULO-FACIAL SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Iris coloboma

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Iris coloboma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Coloboma Splenomegaly Micrognathia Low-set ears Short stature Hydrocephalus Short neck Anteverted nares Cleft palate Patent ductus arteriosus Abnormality of the kidney Agenesis of corpus callosum Telecanthus Multicystic kidney dysplasia Microphthalmia Scoliosis Renal cyst Cataract Microcephaly Muscular hypotonia Strabismus Intestinal malrotation Downslanted palpebral fissures Hypospadias Abnormality of the dentition Inguinal hernia Ptosis Kyphosis Hyperreflexia Bowing of the long bones Polycystic kidney dysplasia Visual impairment Biparietal narrowing Aplasia/Hypoplasia of the corpus callosum Polydactyly Wide mouth Hepatic fibrosis Retinal dystrophy Dolichocephaly Encephalocele Macrocephaly Dilatation Myopia Wide nasal bridge Arnold-Chiari malformation Generalized hypotonia Failure to thrive Abnormality of the hypothalamus-pituitary axis Ataxia Hearing impairment Prominent occiput Osteopenia Cryptorchidism Recurrent fractures Postaxial hand polydactyly

Rare Symptoms - Less than 30% cases

Narrow mouth Arthralgia Skeletal dysplasia Aplasia/Hypoplasia of the cerebellum Occipital encephalocele Talipes equinovarus Syndactyly Dandy-Walker malformation Osteoporosis Recurrent respiratory infections Talipes Ventricular septal defect Coarctation of aorta Hernia Headache Long philtrum Peripheral neuropathy Hemangioma Short distal phalanx of finger Coarse facial features High palate Periodontitis Decreased skull ossification Mitral stenosis Biconcave vertebral bodies Platybasia Rough bone trabeculation Absent frontal sinuses Hypoplastic 5th lumbar vertebrae Partial absence of toe Malar flattening Depressed nasal bridge Multiple renal cysts Upslanted palpebral fissure Microcornea Preauricular pit Intrauterine growth retardation Hydronephrosis Cleft lip Cleft upper lip Pulmonary hypoplasia Renal agenesis Preaxial polydactyly Patellar dislocation Syringomyelia Umbilical hernia Full cheeks Pectus carinatum Synophrys Delayed puberty Joint hyperflexibility Dry skin Thin vermilion border Thick eyebrow Abnormality of the eye Wide nose Downturned corners of mouth Thickened skin Open bite Bone pain Short toe Aortic valve stenosis Skin ulcer Low anterior hairline Generalized hirsutism Wormian bones Abnormality of the fingernails Osteolysis Coarse hair Abnormality of the voice Oral cleft Brachydactyly Hypertension Occipital meningocele Abnormality of the liver Prominent nasal bridge Autistic behavior Low-set, posteriorly rotated ears Stage 5 chronic kidney disease Long face Nephropathy Alopecia Multiple small medullary renal cysts Highly arched eyebrow Neoplasm Cerebellar vermis hypoplasia Pachygyria Abnormality of cardiovascular system morphology Renal insufficiency Abnormality of the nervous system Congenital hepatic fibrosis Ventriculomegaly Nephronophthisis Molar tooth sign on MRI Agenesis of cerebellar vermis Cerebellar hypoplasia Abnormality of neuronal migration Intellectual disability, severe Blindness Chorioretinal coloboma Aplasia/Hypoplasia of the cerebellar vermis Frontal bossing Foot polydactyly Apnea Single umbilical artery Breech presentation Asplenia Meningocele Intellectual disability, moderate Abnormality of the uterus Abnormality of the larynx Abnormality of the ureter Bile duct proliferation Cystic renal dysplasia Ambiguous genitalia, male Portal fibrosis Cerebellar dysplasia Accessory spleen Ambiguous genitalia, female Elevated alpha-fetoprotein Lobulated tongue Adrenal hypoplasia Cognitive impairment Anencephaly Sacral dimple Motor delay Supernumerary ribs Spherocytosis External ear malformation Fever Anosmia Azoospermia Delayed speech and language development Hypogonadotrophic hypogonadism Hypoplasia of penis Mitral valve prolapse Optic atrophy Hemolytic anemia Blepharophimosis Hypogonadism Clinodactyly Abnormal cardiac septum morphology Natal tooth Omphalocele External genital hypoplasia Hydroureter Radial deviation of finger Spontaneous abortion Spina bifida Renal dysplasia Abnormality of the genital system Hypotelorism Anal atresia Oligohydramnios Sloping forehead Hypsarrhythmia Webbed neck Postaxial polydactyly CNS hypomyelination Abnormality of coagulation Meningoencephalocele Urethral obstruction Urethral atresia Atypical scarring of skin Fingernail dysplasia Nasolacrimal duct obstruction Bifid nasal tip White forelock Hypoplastic fingernail Retinal coloboma Premature skin wrinkling Bilateral cleft lip Abnormality of the philtrum Median cleft lip Aplasia cutis congenita Hamartoma Non-midline cleft lip Premature graying of hair Supernumerary nipple Preaxial hand polydactyly Lacrimal duct stenosis Everted upper lip vermilion Anophthalmia Short nasal septum Ectopic thymus tissue Supraauricular pit Upper lip pit Duplication of internal organs Malrotation of colon Postauricular pit Enlarged vestibular aqueduct Auricular pit Polycoria Lower lip pit Branchial anomaly Hypoplastic superior helix Small forehead Dermoid cyst Branchial fistula Lacrimal duct atresia Unilateral renal agenesis Proximal placement of thumb Neural tube defect Flexion contracture Abnormality of the pinna Hyperlordosis Conductive hearing impairment Gastroesophageal reflux Posteriorly rotated ears Clinodactyly of the 5th finger Intellectual disability, mild Sensorineural hearing impairment Microtia Craniorachischisis Large placenta Olfactory lobe agenesis Elevated amniotic fluid alpha-fetoprotein Hypoplasia of the bladder Epicanthus Cerebral hypoplasia Postnatal growth retardation Neurological speech impairment Overfolded helix Joint contracture of the hand Pyloric stenosis Nasal speech Dermal atrophy Deep philtrum Reduced number of teeth Abnormality of the outer ear Elbow flexion contracture Short thumb Small for gestational age Low posterior hairline Tetralogy of Fallot Microdontia Wide intermamillary distance Broad nasal tip Hypodontia Single transverse palmar crease Everted lower lip vermilion Atrial septal defect Joint hypermobility Diarrhea Vertebral segmentation defect Renal corticomedullary cysts Overgrowth Cerebral calcification Exotropia Horseshoe kidney Plagiocephaly Reduced tendon reflexes Tubulointerstitial fibrosis Abnormality of vision Precocious puberty Rickets Melanocytic nevus Abnormality of dental morphology Dilated fourth ventricle Basal cell carcinoma Generalized muscle weakness Hyperphosphaturia Abnormality of dental color Adenoma sebaceum Asymmetric growth Cavernous hemangioma Porencephalic cyst Hypophosphatemic rickets Hemihypertrophy Neurofibromas Abnormality of finger Gangrene Genu recurvatum Dilatation of the cerebral artery Irregular hyperpigmentation Osteomalacia Nevus Hypopigmentation of the skin Hemimegalencephaly Neoplasm of the liver Feeding difficulties in infancy Abnormality of eye movement Elevated hepatic transaminase Cirrhosis Round face Gastrointestinal hemorrhage Apraxia Cholestasis Oculomotor apraxia Chronic kidney disease Portal hypertension Gait disturbance Abnormality of abdomen morphology Optic nerve coloboma Esophageal varix Ichthyosis EEG abnormality Facial asymmetry Ophthalmoplegia Corneal opacity Attention deficit hyperactivity disorder Brainstem dysplasia Carcinoma Renal sodium wasting Cholestatic liver disease Kyphoscoliosis Spasticity Tremor Intrahepatic biliary atresia Chronic hepatic failure Abnormal pattern of respiration Cranial asymmetry Epidermal nevus Feeding difficulties Recurrent infections Spastic tetraplegia Febrile seizures Abnormality of the skull Hypoplasia of the zygomatic bone Tetraplegia Lethargy Autism Weight loss Abnormality of the mandible Hyperactivity Pneumonia Encephalopathy Pain Thrombocytopenia Joint laxity Leukopenia Flank pain Hypertonia Cerebral atrophy Osteolytic defects of the phalanges of the toes Basilar invagination Premature loss of permanent teeth Basilar impression Respiratory arrest Respiratory tract infection Osteolytic defects of the phalanges of the hand Delayed cranial suture closure Glomerulonephritis Dental malocclusion Hematuria Paresthesia Aspiration Delayed gross motor development Nevus sebaceous Tubular atrophy Polydipsia Hypoplasia of the brainstem Polyuria Congenital blindness Severe vision loss Postaxial foot polydactyly Undetectable electroretinogram Tachypnea Abnormal facial shape Nevus sebaceus Linear nevus sebaceous Odontogenic neoplasm Odontoma Abnormality of toe Hand polydactyly Intellectual disability, progressive Breast carcinoma Uraciluria Hypoventilation Aspiration pneumonia Diffuse cerebral atrophy Stomatitis Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Anemia Aganglionic megacolon Behavioral abnormality Dyspnea Hepatosplenomegaly Severe global developmental delay Hepatic steatosis Heterotopia Fusion of middle ear ossicles


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